CCDC81 — 103 ClinVar variants

All ClinVar germline CCDC81 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →

7 Likely benign · 96 Uncertain significance

Full CCDC81 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 96

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 56

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

Predictors split 40

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

All CCDC81 variants

Likely benign 7

p.Ala592Val Single submitter
p.Arg282Gln Single submitter
p.Arg430Gln Single submitter
p.Arg497Gln Single submitter
p.Phe54Leu Single submitter
p.Ser342Gly Single submitter
p.Tyr97= Single submitter

Uncertain significance 96

p.Ala209Val Single submitter ⚠
p.Ala419Val Single submitter ⚠
p.Ala470Gly Single submitter ⚠
p.Ala53Pro Single submitter ⚠
p.Arg136His Single submitter ⚠
p.Arg157Ile Single submitter ⚠
p.Arg157Ser Single submitter ⚠
p.Arg164Thr Single submitter ⚠
p.Arg263Ser Single submitter ⚠
p.Arg347Thr Single submitter ⚠
p.Arg414Gln Single submitter ⚠
p.Arg430Trp Single submitter ⚠
p.Arg439Gly Single submitter ⚠
p.Arg455Cys Single submitter ⚠
p.Arg485Ser Single submitter ⚠
p.Arg497Trp Single submitter ⚠
p.Arg524Gln Single submitter ⚠
p.Arg553Gln Single submitter ⚠
p.Arg553Trp Single submitter ⚠
p.Arg575Gln Single submitter ⚠
p.Arg606Trp Single submitter ⚠
p.Arg621Gln Single submitter ⚠
p.Arg621Pro Single submitter ⚠
p.Arg629Cys Single submitter ⚠
p.Arg649Gly Single submitter ⚠
p.Asn143Thr Single submitter ⚠
p.Asn438Lys Single submitter ⚠
p.Asn527Ser Single submitter ⚠
p.Asp121Gly Single submitter ⚠
p.Asp168Val Single submitter ⚠
p.Asp304His Single submitter ⚠
p.Asp351Val Single submitter ⚠
p.Asp454Tyr Single submitter ⚠
p.Asp475Gly Single submitter ⚠
p.Cys315Ser Single submitter ⚠
p.Gln264Arg Single submitter ⚠
p.Gln323Glu Single submitter ⚠
p.Gln425Pro Single submitter ⚠
p.Gln556Lys Single submitter ⚠
p.Gln616Arg Single submitter ⚠
p.Gln627His Single submitter ⚠
p.Glu293Ala Single submitter ⚠
p.Glu348Val Single submitter ⚠
p.Glu350Gln Single submitter ⚠
p.Glu507Asp Single submitter ⚠
p.Glu574Ala Single submitter ⚠
p.Glu605Asp Single submitter ⚠
p.Gly152Glu Single submitter ⚠
p.Gly188Ser Single submitter ⚠
p.Gly286Ser Single submitter ⚠
p.Gly33Glu Single submitter ⚠
p.Gly67Glu Single submitter ⚠
p.His398Tyr Single submitter ⚠
p.Ile355Thr Single submitter ⚠
p.Ile395Val Single submitter ⚠
p.Ile444Thr Single submitter ⚠
p.Ile51Thr Single submitter ⚠
p.Leu131Ser Single submitter ⚠
p.Leu20Arg Single submitter ⚠
p.Leu215Arg Single submitter ⚠
p.Leu301Pro Single submitter ⚠
p.Leu558Pro Single submitter ⚠
p.Leu566Ser Single submitter ⚠
p.Leu641Pro Single submitter ⚠
p.Lys424Glu Single submitter ⚠
p.Lys492Asn Single submitter ⚠
p.Lys602Gln Single submitter ⚠
p.Lys610Glu Single submitter ⚠
p.Lys95Glu Single submitter ⚠
p.Met173Thr Single submitter ⚠
p.Met173Val Single submitter ⚠
p.Met477Ile Single submitter ⚠
p.Met477Thr Single submitter ⚠
p.Met518Thr Single submitter ⚠
p.Met529Ile Single submitter ⚠
p.Met529Thr Single submitter ⚠
p.Met81Val Single submitter ⚠
p.Phe109Leu Single submitter ⚠
p.Phe146Cys Single submitter ⚠
p.Phe210Leu Single submitter ⚠
p.Phe79Cys Single submitter ⚠
p.Pro106Leu Single submitter ⚠
p.Pro403Leu Single submitter ⚠
p.Pro499Ser Single submitter ⚠
p.Ser296Pro Single submitter ⚠
p.Ser299Asn Single submitter ⚠
p.Ser408Cys Single submitter ⚠
p.Ser590Arg Single submitter ⚠
p.Ser636Gly Single submitter ⚠
p.Thr147Ile Single submitter ⚠
p.Thr172Ile Single submitter ⚠
p.Tyr528Ser Single submitter ⚠
p.Val105Ile Single submitter ⚠
p.Val153Ile Single submitter ⚠
p.Val39Leu Single submitter ⚠
p.Val66Ala Single submitter ⚠