CEP68 — 159 ClinVar variants

All ClinVar germline CEP68 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

8 Benign · 1 Benign/Likely benign · 18 Likely benign · 132 Uncertain significance

Full CEP68 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 134

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 86

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

Predictors split 48

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

All CEP68 variants

Benign 8

c.2007+9C>G Multiple submitters
p.Arg217His Multiple submitters ⚠
p.Phe367Tyr Multiple submitters
p.Ser447= Multiple submitters
p.Val607Ala Multiple submitters
p.Gln578= Single submitter
p.Gly616del Single submitter
p.Leu586= Single submitter

Benign/Likely benign 1

p.His566= Multiple submitters

Likely benign 18

c.1884+21G>A Single submitter
p.Ala10Val Single submitter
p.Ala487Thr Single submitter
p.Arg29Gln Single submitter
p.Arg322His Single submitter
p.Arg410= Single submitter
p.Arg424Trp Single submitter ⚠
p.Arg441Gln Single submitter
p.Arg590His Single submitter
p.Arg723His Single submitter
p.Asn657Ser Single submitter
p.His318Gln Single submitter
p.Met433Val Single submitter
p.Phe530Leu Single submitter
p.Pro230Leu Single submitter
p.Pro486= Single submitter
p.Pro75Leu Single submitter
p.Val231= Single submitter

Uncertain significance 132

p.Ala163Thr Single submitter ⚠
p.Ala214Val Single submitter ⚠
p.Ala325Val Single submitter ⚠
p.Ala344Val Single submitter ⚠
p.Ala417Thr Single submitter ⚠
p.Ala487Pro Single submitter ⚠
p.Ala487Val Single submitter ⚠
p.Ala645Thr Single submitter ⚠
p.Ala645Val Single submitter ⚠
p.Ala721Thr Single submitter ⚠
p.Ala730Thr Single submitter ⚠
p.Ala749Ser Single submitter ⚠
p.Arg264Gly Single submitter ⚠
p.Arg266Cys Single submitter ⚠
p.Arg266His Single submitter ⚠
p.Arg288Cys Single submitter ⚠
p.Arg288His Single submitter ⚠
p.Arg322Cys Single submitter ⚠
p.Arg322Leu Single submitter ⚠
p.Arg410His Single submitter ⚠
p.Arg413Cys Single submitter ⚠
p.Arg413His Single submitter ⚠
p.Arg414Thr Single submitter ⚠
p.Arg424Gln Single submitter ⚠
p.Arg439Lys Single submitter ⚠
p.Arg44Cys Single submitter ⚠
p.Arg44Leu Single submitter ⚠
p.Arg455Lys Single submitter ⚠
p.Arg488Gln Single submitter ⚠
p.Arg564Cys Single submitter ⚠
p.Arg599Gln Single submitter ⚠
p.Arg599Trp Single submitter ⚠
p.Arg669Gln Single submitter ⚠
p.Arg669Trp Single submitter ⚠
p.Arg77Ser Single submitter ⚠
p.Asn296Ser Single submitter ⚠
p.Asn699Lys Single submitter ⚠
p.Asp287Asn Single submitter ⚠
p.Asp320Asn Single submitter ⚠
p.Asp408Asn Single submitter ⚠
p.Asp479Gly Single submitter ⚠
p.Asp550Glu Single submitter ⚠
p.Cys357Arg Single submitter ⚠
p.Cys557Arg Single submitter ⚠
p.Gln19Leu Single submitter ⚠
p.Gln41Arg Single submitter ⚠
p.Gln437His Single submitter ⚠
p.Gln554Lys Single submitter ⚠
p.Gln625Arg Single submitter ⚠
p.Gln633Arg Single submitter ⚠
p.Glu129Lys Single submitter ⚠
p.Glu152Lys Single submitter ⚠
p.Glu229Lys Single submitter ⚠
p.Glu473Val Single submitter ⚠
p.Glu474Gly Single submitter ⚠
p.Glu608Lys Single submitter ⚠
p.Glu89Gln Single submitter ⚠
p.Glu89Lys Single submitter ⚠
p.Gly101Val Single submitter ⚠
p.Gly116Arg Single submitter ⚠
p.Gly22Arg Single submitter ⚠
p.Gly257Ala Single submitter ⚠
p.Gly312Ala Single submitter ⚠
p.Gly444Glu Single submitter ⚠
p.Gly4Cys Single submitter ⚠
p.Gly50Glu Single submitter ⚠
p.Gly553Val Single submitter ⚠
p.Gly581Arg Single submitter ⚠
p.Gly581Val Single submitter ⚠
p.Gly651Arg Single submitter ⚠
p.Gly69Arg Single submitter ⚠
p.His289Asp Single submitter ⚠
p.Ile33Val Single submitter ⚠
p.Ile513Val Single submitter ⚠
p.Ile52Val Single submitter ⚠
p.Ile741Thr Single submitter ⚠
p.Leu282Pro Single submitter ⚠
p.Leu302Met Single submitter ⚠
p.Leu319Pro Single submitter ⚠
p.Leu574Pro Single submitter ⚠
p.Lys122Thr Single submitter ⚠
p.Lys514Asn Single submitter ⚠
p.Lys628Thr Single submitter ⚠
p.Phe602Cys Single submitter ⚠
p.Pro187Leu Single submitter ⚠
p.Pro284Ser Single submitter ⚠
p.Pro308Ala Single submitter ⚠
p.Pro350Leu Single submitter ⚠
p.Pro379Thr Single submitter ⚠
p.Pro401Leu Single submitter ⚠
p.Pro436Ser Single submitter ⚠
p.Pro43Leu Single submitter ⚠
p.Pro509Leu Single submitter ⚠
p.Pro540Arg Single submitter ⚠
p.Pro701Leu Single submitter ⚠
p.Ser100Thr Single submitter ⚠
p.Ser115Tyr Single submitter ⚠
p.Ser13Cys Single submitter ⚠
p.Ser173Leu Single submitter ⚠
p.Ser197Asn Single submitter ⚠
p.Ser199Phe Single submitter ⚠
p.Ser201Cys Single submitter ⚠
p.Ser206Gly Single submitter ⚠
p.Ser20Phe Single submitter ⚠
p.Ser321Asn Single submitter ⚠
p.Ser368Pro Single submitter ⚠
p.Ser435Cys Single submitter ⚠
p.Ser447Pro Single submitter ⚠
p.Ser503Thr Single submitter ⚠
p.Ser524Arg Single submitter ⚠
p.Ser53Ala Single submitter ⚠
p.Ser583Phe Single submitter ⚠
p.Ser592Ala Single submitter ⚠
p.Ser663Thr Single submitter ⚠
p.Ser714Cys Single submitter ⚠
p.Thr151Ile Single submitter ⚠
p.Thr151Ser Single submitter ⚠
p.Thr346Ile Single submitter ⚠
p.Thr464Asn Single submitter ⚠
p.Thr682Met Single submitter ⚠
p.Thr739Ile Single submitter ⚠
p.Thr739Pro Single submitter ⚠
p.Trp56Leu Single submitter ⚠
p.Trp56Ser Single submitter ⚠
p.Tyr482Ser Single submitter ⚠
p.Tyr642Cys Single submitter ⚠
p.Val184Met Single submitter ⚠
p.Val240Met Single submitter ⚠
p.Val492Ile Single submitter ⚠
p.Val55Leu Single submitter ⚠
p.Val647Asp Single submitter ⚠
p.Val91Ala Single submitter ⚠