CEP85L — 183 ClinVar variants
All ClinVar germline CEP85L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →
4 Pathogenic · 3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 3 Conflicting · 6 Benign · 37 Likely benign · 122 Uncertain significance
Full CEP85L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 116
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CEP85L p.Ser58Cys
Likely pathogenic
No assertion criteria
Posterior Predominant Lissencephaly
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CEP85L p.Thr44Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CEP85L p.Arg151Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEP85L p.Arg241Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEP85L p.Gly122Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEP85L p.Ile186Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEP85L p.Thr66Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CEP85L p.Ala10Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ala10Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ala164Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ala24Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg13Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg154Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg305Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg305Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg332Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg347Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg372Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg398Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Asn106Asp Uncertain significance Single submitter
- CEP85L p.Asn313Lys Uncertain significance Single submitter
-
CEP85L p.Asp121Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Asp142Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Asp379Asn Uncertain significance Single submitter
- CEP85L p.Asp484Gly Uncertain significance Single submitter
- CEP85L p.Gln327Leu Uncertain significance Single submitter
-
CEP85L p.Gln333Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Gln421Pro
Uncertain significance
Single submitter
lissencephaly 10
-
CEP85L p.Gln441Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Gln626Arg Uncertain significance Single submitter
-
CEP85L p.Glu209Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Glu209Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Glu261Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Glu315Gln Uncertain significance Single submitter
- CEP85L p.Glu423Lys Uncertain significance Single submitter
- CEP85L p.Glu758Gly Uncertain significance Single submitter
-
CEP85L p.Gly12Arg
Uncertain significance
Single submitter
lissencephaly 10
- CEP85L p.Gly171Ser Uncertain significance Single submitter
- CEP85L p.Gly182Val Uncertain significance Single submitter
-
CEP85L p.Gly18Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Gly286Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.His205Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ile218Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ile265Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ile712Thr
Uncertain significance
Single submitter
lissencephaly 10
-
CEP85L p.Leu280Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Leu534Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Lys148Glu
Uncertain significance
Single submitter
lissencephaly 10
-
CEP85L p.Lys474Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Lys570Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Lys717Asn Uncertain significance Single submitter
-
CEP85L p.Met254Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Met363Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Met654Thr Uncertain significance Single submitter
-
CEP85L p.Pro152Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Pro152Gln Uncertain significance Single submitter
-
CEP85L p.Pro23Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Pro274Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Pro430Thr Uncertain significance Single submitter
-
CEP85L p.Ser126Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ser126Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ser257Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ser262Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Ser319Arg Uncertain significance Single submitter
-
CEP85L p.Ser335Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ser417Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Thr246Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Thr267Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Thr314Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Thr337Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Trp323Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Tyr230Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Tyr354Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Tyr422Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Tyr794Cys Uncertain significance Single submitter
-
CEP85L p.Val294Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Val341Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Val455Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Val524Ile Uncertain significance Single submitter
-
CEP85L p.Val76Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Val76Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 35
The independent predictors disagree with each other — read with care.
-
CEP85L p.Ile508Val
Uncertain significance
Multiple submitters
lissencephaly 10
- CEP85L p.Leu658Val Likely benign Multiple submitters
-
CEP85L p.Ala402Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg222Trp
Likely benign
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg305Trp
Uncertain significance
Single submitter
lissencephaly 10
-
CEP85L p.Arg380Trp
Likely benign
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg391Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg398Trp
Likely benign
Single submitter
Inborn genetic diseases
-
CEP85L p.Arg4Cys
Uncertain significance
Single submitter
lissencephaly 10
- CEP85L p.Asp523Gly Uncertain significance Single submitter
-
CEP85L p.Asp65Asn
Likely pathogenic
Single submitter
lissencephaly 10
-
CEP85L p.Glu368Gly
Uncertain significance
Single submitter
lissencephaly 10
-
CEP85L p.Glu445Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Glu554Ala
Uncertain significance
Single submitter
CEP85L-related disorder
-
CEP85L p.Ile783Val
Likely benign
Single submitter
Inborn genetic diseases
-
CEP85L p.Leu388Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ser144Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ser160Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Ser202Arg Uncertain significance Single submitter
-
CEP85L p.Ser224Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CEP85L p.Ser349Arg
Uncertain significance
Single submitter
CEP85L-related disorder
-
CEP85L p.Ser58Asn
Conflicting
Single submitter
lissencephaly 10
-
CEP85L p.Ser61Phe
Conflicting
Single submitter
lissencephaly 10
-
CEP85L p.Ser63Arg
Likely pathogenic
Single submitter
lissencephaly spectrum disorders
-
CEP85L p.Ser83Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Ser87Phe Uncertain significance Single submitter
-
CEP85L p.Thr510Ala
Uncertain significance
Single submitter
lissencephaly 10
- CEP85L p.Thr510Asn Uncertain significance Single submitter
- CEP85L p.Thr520Asn Uncertain significance Single submitter
- CEP85L p.Trp299Arg Uncertain significance Single submitter
-
CEP85L p.Trp2Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CEP85L p.Trp360Leu Uncertain significance Single submitter
-
CEP85L p.Val665Ala
Uncertain significance
Single submitter
lissencephaly 10
- CEP85L p.Val776Met Uncertain significance Single submitter
-
CEP85L p.Ile68Thr
Pathogenic/Likely pathogenic
No assertion criteria
Posterior Predominant Lissencephaly
All CEP85L variants
Pathogenic 4
- c.232+1G>A Single submitter
- c.232+1G>T Single submitter neurodevelopmental disorder
- c.232+2T>A Single submitter lissencephaly spectrum disorders
- p.Met1Ile Single submitter lissencephaly spectrum disorders
Pathogenic/Likely pathogenic 3
- c.232+3G>T No assertion criteria Posterior Predominant Lissencephaly
- c.232+5G>A No assertion criteria Posterior Predominant Lissencephaly
- p.Ile68Thr No assertion criteria Posterior Predominant Lissencephaly ⚠
Likely pathogenic 8
- c.232+5G>C Single submitter lissencephaly 10
- p.Asp65Asn Single submitter lissencephaly 10 ⚠
- p.Gln697Ter Single submitter lissencephaly 10
- p.Ser20fs Single submitter lissencephaly 10
- p.Ser63Arg Single submitter lissencephaly spectrum disorders ⚠
- p.Gly69Arg No assertion criteria Posterior Predominant Lissencephaly
- p.Met1Leu No assertion criteria Posterior Predominant Lissencephaly
- p.Ser58Cys No assertion criteria Posterior Predominant Lissencephaly ⚠
Conflicting classifications of pathogenicity 3
- p.Ser58Asn Single submitter lissencephaly 10 ⚠
- p.Ser61Phe Single submitter lissencephaly 10 ⚠
- p.Thr44Ser Single submitter Inborn genetic diseases ⚠
Benign 6
- c.1020+17269T>G Multiple submitters lissencephaly 10
- c.1258-7C>G Single submitter
- c.-20T>C Single submitter
- p.Ala7Val Single submitter Inborn genetic diseases
- p.Pro251Thr Single submitter lissencephaly 10
- p.Ser137Gly Single submitter lissencephaly 10
Likely benign 37
- c.1020+17280C>A Multiple submitters dilated cardiomyopathy 1P
- c.1020+17468G>A Multiple submitters lissencephaly 10
- p.Leu658Val Multiple submitters ⚠
- p.Lys220Thr Multiple submitters Inborn genetic diseases
- c.2023-4G>A Single submitter
- p.Ala109Thr Single submitter Inborn genetic diseases
- p.Arg222Trp Single submitter Inborn genetic diseases ⚠
- p.Arg332Gln Single submitter Inborn genetic diseases
- p.Arg347His Single submitter Inborn genetic diseases
- p.Arg380Trp Single submitter Inborn genetic diseases ⚠
- p.Arg398Trp Single submitter Inborn genetic diseases ⚠
- p.Arg465= Single submitter
- p.Gln141Glu Single submitter Inborn genetic diseases
- p.Gln560= Single submitter
- p.His387Arg Single submitter Inborn genetic diseases
- p.Ile186Thr Single submitter Inborn genetic diseases
- p.Ile328= Single submitter
- p.Ile783Val Single submitter Inborn genetic diseases ⚠
- p.Leu388= Single submitter
- p.Leu729Ser Single submitter
- p.Lys276Glu Single submitter Inborn genetic diseases
- p.Lys493= Single submitter
- p.Lys646Glu Single submitter
- p.Lys660Glu Single submitter
- p.Met279Ile Single submitter
- p.Met339Val Single submitter Inborn genetic diseases
- p.Pro152= Single submitter
- p.Ser157= Single submitter
- p.Ser202= Single submitter
- p.Ser293= Single submitter
- p.Ser432= Single submitter
- p.Ser432Ala Single submitter Inborn genetic diseases
- p.Val252Ile Single submitter Inborn genetic diseases
- c.1437+64_1437+67del No assertion criteria CEP85L-related disorder
- p.Ala164= No assertion criteria CEP85L-related disorder
- p.Ile595= No assertion criteria CEP85L-related disorder
- p.Val436Ile No assertion criteria CEP85L-related disorder
Uncertain significance 122
- p.Arg151Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg241Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp624fs Multiple submitters Inborn genetic diseases
- p.Gly122Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile186Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile508Val Multiple submitters lissencephaly 10 ⚠
- p.Thr66Ile Multiple submitters Inborn genetic diseases ⚠
- c.1437+28G>T Single submitter
- c.1590+3A>T Single submitter lissencephaly 10
- c.1590+6A>G Single submitter Inborn genetic diseases
- c.1914+1G>T Single submitter
- p.Ala10Pro Single submitter Inborn genetic diseases ⚠
- p.Ala10Val Single submitter Inborn genetic diseases ⚠
- p.Ala164Asp Single submitter Inborn genetic diseases ⚠
- p.Ala24Thr Single submitter Inborn genetic diseases ⚠
- p.Ala402Thr Single submitter Inborn genetic diseases ⚠
- p.Arg13Gly Single submitter Inborn genetic diseases ⚠
- p.Arg151fs Single submitter lissencephaly 10
- p.Arg154Gly Single submitter Inborn genetic diseases ⚠
- p.Arg305Gln Single submitter Inborn genetic diseases ⚠
- p.Arg305Leu Single submitter Inborn genetic diseases ⚠
- p.Arg305Trp Single submitter lissencephaly 10 ⚠
- p.Arg332Gly Single submitter Inborn genetic diseases ⚠
- p.Arg347Cys Single submitter Inborn genetic diseases ⚠
- p.Arg372Lys Single submitter Inborn genetic diseases ⚠
- p.Arg391Ser Single submitter Inborn genetic diseases ⚠
- p.Arg398Gln Single submitter Inborn genetic diseases ⚠
- p.Arg4Cys Single submitter lissencephaly 10 ⚠
- p.Arg50Ter Single submitter
- p.Asn106Asp Single submitter ⚠
- p.Asn313Lys Single submitter ⚠
- p.Asn538fs Single submitter
- p.Asp121Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp142Val Single submitter Inborn genetic diseases ⚠
- p.Asp379Asn Single submitter ⚠
- p.Asp484Gly Single submitter ⚠
- p.Asp522fs Single submitter
- p.Asp523Gly Single submitter ⚠
- p.Gln327Leu Single submitter ⚠
- p.Gln333Pro Single submitter Inborn genetic diseases ⚠
- p.Gln421Pro Single submitter lissencephaly 10 ⚠
- p.Gln441Arg Single submitter Inborn genetic diseases ⚠
- p.Gln626Arg Single submitter ⚠
- p.Gln666Ter Single submitter lissencephaly 10
- p.Glu140fs Single submitter
- p.Glu209Gln Single submitter Inborn genetic diseases ⚠
- p.Glu209Gly Single submitter Inborn genetic diseases ⚠
- p.Glu261Lys Single submitter Inborn genetic diseases ⚠
- p.Glu315Gln Single submitter ⚠
- p.Glu368Gly Single submitter lissencephaly 10 ⚠
- p.Glu423Lys Single submitter ⚠
- p.Glu445Asp Single submitter Inborn genetic diseases ⚠
- p.Glu497Ter Single submitter
- p.Glu554Ala Single submitter CEP85L-related disorder ⚠
- p.Glu758Gly Single submitter ⚠
- p.Glu9fs Single submitter CEP85L-related disorder
- p.Gly12Arg Single submitter lissencephaly 10 ⚠
- p.Gly171Ser Single submitter ⚠
- p.Gly172= Single submitter lissencephaly 10
- p.Gly182Val Single submitter ⚠
- p.Gly18Arg Single submitter Inborn genetic diseases ⚠
- p.Gly286Arg Single submitter Inborn genetic diseases ⚠
- p.His205Arg Single submitter Inborn genetic diseases ⚠
- p.Ile218Met Single submitter Inborn genetic diseases ⚠
- p.Ile265Val Single submitter Inborn genetic diseases ⚠
- p.Ile712Thr Single submitter lissencephaly 10 ⚠
- p.Leu280Val Single submitter Inborn genetic diseases ⚠
- p.Leu388Gln Single submitter Inborn genetic diseases ⚠
- p.Leu534Val Single submitter Inborn genetic diseases ⚠
- p.Lys148Glu Single submitter lissencephaly 10 ⚠
- p.Lys474Arg Single submitter Inborn genetic diseases ⚠
- p.Lys570Glu Single submitter Inborn genetic diseases ⚠
- p.Lys717Asn Single submitter ⚠
- p.Met254Thr Single submitter Inborn genetic diseases ⚠
- p.Met363Leu Single submitter Inborn genetic diseases ⚠
- p.Met640fs Single submitter
- p.Met654Thr Single submitter ⚠
- p.Pro152Ala Single submitter Inborn genetic diseases ⚠
- p.Pro152Gln Single submitter ⚠
- p.Pro23Ser Single submitter Inborn genetic diseases ⚠
- p.Pro274Arg Single submitter Inborn genetic diseases ⚠
- p.Pro430Thr Single submitter ⚠
- p.Ser126Arg Single submitter Inborn genetic diseases ⚠
- p.Ser126Thr Single submitter Inborn genetic diseases ⚠
- p.Ser144Phe Single submitter Inborn genetic diseases ⚠
- p.Ser160Pro Single submitter Inborn genetic diseases ⚠
- p.Ser202Arg Single submitter ⚠
- p.Ser224Pro Single submitter Inborn genetic diseases ⚠
- p.Ser257Gly Single submitter Inborn genetic diseases ⚠
- p.Ser262Gly Single submitter Inborn genetic diseases ⚠
- p.Ser319Arg Single submitter ⚠
- p.Ser335Ile Single submitter Inborn genetic diseases ⚠
- p.Ser349Arg Single submitter CEP85L-related disorder ⚠
- p.Ser417Gly Single submitter Inborn genetic diseases ⚠
- p.Ser83Ile Single submitter Inborn genetic diseases ⚠
- p.Ser87Phe Single submitter ⚠
- p.Thr246Ser Single submitter Inborn genetic diseases ⚠
- p.Thr267Ile Single submitter Inborn genetic diseases ⚠
- p.Thr314Lys Single submitter Inborn genetic diseases ⚠
- p.Thr337Ile Single submitter Inborn genetic diseases ⚠
- p.Thr510Ala Single submitter lissencephaly 10 ⚠
- p.Thr510Asn Single submitter ⚠
- p.Thr520Asn Single submitter ⚠
- p.Thr85fs Single submitter
- p.Trp299Arg Single submitter ⚠
- p.Trp2Leu Single submitter Inborn genetic diseases ⚠
- p.Trp323Cys Single submitter Inborn genetic diseases ⚠
- p.Trp360Leu Single submitter ⚠
- p.Trp3Gly Single submitter lissencephaly 10
- p.Tyr230Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr256_Ser257delinsTer Single submitter
- p.Tyr354Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr422Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr794Cys Single submitter ⚠
- p.Val294Ile Single submitter Inborn genetic diseases ⚠
- p.Val341Asp Single submitter Inborn genetic diseases ⚠
- p.Val455Ile Single submitter Inborn genetic diseases ⚠
- p.Val524Ile Single submitter ⚠
- p.Val665Ala Single submitter lissencephaly 10 ⚠
- p.Val76Leu Single submitter Inborn genetic diseases ⚠
- p.Val76Met Single submitter Inborn genetic diseases ⚠
- p.Val776Met Single submitter ⚠