CEP76 — 97 ClinVar variants

All ClinVar germline CEP76 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

2 Pathogenic · 11 Likely pathogenic · 1 Conflicting · 2 Benign · 6 Likely benign · 75 Uncertain significance

Full CEP76 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 80

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 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CEP76 p.Phe511Ile Conflicting Single submitter

Predictors lean, ClinVar uncertain 48

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

Predictors split 27

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

All CEP76 variants

Pathogenic 2

p.Lys374= Single submitter Joubert syndrome 1
p.Pro103Ser Single submitter Joubert syndrome 1 ⚠

Likely pathogenic 11

p.Arg568Pro Single submitter Joubert syndrome 1
p.Cys478Arg Single submitter retinitis pigmentosa
p.His301fs Single submitter Joubert syndrome 1
p.Ile101Thr Single submitter ⚠
p.Ile28fs Single submitter Bardet-Biedl syndrome 1
p.Leu166Pro Single submitter retinitis pigmentosa
p.Leu508fs Single submitter Bardet-Biedl syndrome 1
p.Trp291del Single submitter retinitis pigmentosa
p.Val24Asp Single submitter Joubert syndrome 1
p.Val265Met Single submitter ⚠
p.Arg625His No assertion criteria Short stature ⚠

Conflicting classifications of pathogenicity 1

p.Phe511Ile Single submitter ⚠

Benign 2

p.Gly203Arg No assertion criteria CEP76-related disorder
p.Ser172Asn No assertion criteria CEP76-related disorder

Likely benign 6

p.Ile88Val Single submitter
p.Ser210= Single submitter
p.Thr259Met Single submitter
p.Thr547= Single submitter
c.934-10T>C No assertion criteria CEP76-related disorder
p.Ile316= No assertion criteria CEP76-related disorder

Uncertain significance 75

p.Ala277Val Single submitter ⚠
p.Ala409Val Single submitter ⚠
p.Ala495Thr Single submitter ⚠
p.Ala501Val Single submitter ⚠
p.Ala644Val Single submitter ⚠
p.Ala8Val Single submitter ⚠
p.Arg148His Single submitter ⚠
p.Arg273Cys Single submitter ⚠
p.Arg281Gln Single submitter ⚠
p.Arg298Gln Single submitter ⚠
p.Arg350Gln Single submitter ⚠
p.Arg37Trp Single submitter ⚠
p.Arg454Gln Single submitter ⚠
p.Arg568His Single submitter ⚠
p.Arg58Cys Single submitter ⚠
p.Arg607Cys Single submitter ⚠
p.Arg656Cys Single submitter ⚠
p.Arg656His Single submitter ⚠
p.Asn344Ser Single submitter ⚠
p.Asn576Ser Single submitter ⚠
p.Asp102Gly Single submitter ⚠
p.Asp181Gly Single submitter ⚠
p.Asp91Val Single submitter ⚠
p.Cys133Phe Single submitter ⚠
p.Cys133Tyr Single submitter ⚠
p.Cys469Tyr Single submitter ⚠
p.Cys645Ser Single submitter ⚠
p.Gln552His Single submitter ⚠
p.Gln78Glu Single submitter ⚠
p.Glu30Lys Single submitter ⚠
p.Glu6Gly Single submitter ⚠
p.Gly224Val Single submitter ⚠
p.Gly347Ala Single submitter ⚠
p.Gly375Val Single submitter ⚠
p.Ile432Met Single submitter ⚠
p.Ile456Thr Single submitter ⚠
p.Ile519Thr Single submitter ⚠
p.Ile61Val Single submitter ⚠
p.Ile62Thr Single submitter ⚠
p.Leu482Met Single submitter ⚠
p.Leu532Arg Single submitter ⚠
p.Leu534Val Single submitter ⚠
p.Leu557Ser Single submitter ⚠
p.Met185Val Single submitter ⚠
p.Met233Thr Single submitter ⚠
p.Met252Ile Single submitter ⚠
p.Met412Val Single submitter ⚠
p.Pro471Ser Single submitter ⚠
p.Pro4Leu Single submitter ⚠
p.Pro509Leu Single submitter ⚠
p.Pro616Ser Single submitter ⚠
p.Ser187Pro Single submitter ⚠
p.Ser217Leu Single submitter ⚠
p.Ser221Ala Single submitter ⚠
p.Ser221Leu Single submitter ⚠
p.Ser227Arg Single submitter ⚠
p.Ser2Trp Single submitter ⚠
p.Ser386Thr Single submitter ⚠
p.Ser75Gly Single submitter ⚠
p.Thr135Met Single submitter ⚠
p.Thr177Asn Single submitter ⚠
p.Thr199Ile Single submitter ⚠
p.Thr237Lys Single submitter ⚠
p.Thr365Ile Single submitter ⚠
p.Thr569Ile Single submitter ⚠
p.Val168Ile Single submitter ⚠
p.Val243Leu Single submitter ⚠
p.Val24Ala Single submitter ⚠
p.Val265Leu Single submitter ⚠
p.Val320Ala Single submitter ⚠
p.Val324Phe Single submitter ⚠
p.Val345Asp Single submitter CEP76-related disorder ⚠
p.Val443Asp Single submitter ⚠
p.Ala329Thr No assertion criteria Short stature ⚠
p.Ile36Met No assertion criteria Short stature ⚠