CCDC82 — 95 ClinVar variants

All ClinVar germline CCDC82 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 1 Benign · 8 Likely benign · 82 Uncertain significance

Full CCDC82 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 79

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 36

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

Predictors split 43

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

All CCDC82 variants

Pathogenic 1

p.Phe61fs Single submitter

Likely pathogenic 2

p.Arg23Ter Single submitter intellectual disability
p.Arg237Ter No assertion criteria CCDC82-related disorder

Conflicting classifications of pathogenicity 1

p.Arg179Ter Single submitter CCDC82-Related Disorders

Benign 1

p.Thr108Ala Multiple submitters

Likely benign 8

c.991+17G>A Single submitter
p.Asn283Asp Single submitter
p.Gly106Ser Single submitter
p.Ile34Val Single submitter
p.Leu130Ser Single submitter ⚠
p.Leu130Val Single submitter ⚠
p.Ser81Asn Single submitter
p.Tyr432His Single submitter

Uncertain significance 82

p.Ala233Thr Single submitter ⚠
p.Ala351Thr Single submitter ⚠
p.Arg11Gly Single submitter ⚠
p.Arg179Gln Single submitter ⚠
p.Arg211Cys Single submitter ⚠
p.Arg237Gln Single submitter ⚠
p.Arg23Gln Single submitter ⚠
p.Arg252Cys Single submitter ⚠
p.Arg252His Single submitter ⚠
p.Arg255Cys Single submitter ⚠
p.Arg255His Single submitter ⚠
p.Arg255Leu Single submitter ⚠
p.Arg383Cys Single submitter ⚠
p.Arg388Cys Single submitter ⚠
p.Arg388His Single submitter ⚠
p.Arg397His Single submitter ⚠
p.Arg431His Single submitter ⚠
p.Arg447Ser Single submitter ⚠
p.Arg471Cys Single submitter ⚠
p.Arg471His Single submitter ⚠
p.Arg473Lys Single submitter ⚠
p.Arg509Thr Single submitter ⚠
p.Arg513Leu Single submitter ⚠
p.Arg513Trp Single submitter ⚠
p.Asn453Lys Single submitter ⚠
p.Asn95Ser Single submitter ⚠
p.Asp147Asn Single submitter ⚠
p.Asp159Asn Single submitter ⚠
p.Asp171Asn Single submitter ⚠
p.Asp263Asn Single submitter ⚠
p.Asp282Asn Single submitter ⚠
p.Asp296Asn Single submitter ⚠
p.Cys424fs Single submitter
p.Gln143His Single submitter ⚠
p.Gln401Arg Single submitter ⚠
p.Gln401His Single submitter ⚠
p.Gln487Glu Single submitter ⚠
p.Glu150Ter Single submitter
p.Glu407Lys Single submitter ⚠
p.Glu488Asp Single submitter ⚠
p.Glu48Gly Single submitter ⚠
p.Glu54Asp Single submitter ⚠
p.Glu59Gly Single submitter ⚠
p.Glu66Ala Single submitter ⚠
p.Glu66Gln Single submitter ⚠
p.Gly180Arg Single submitter ⚠
p.Gly206Arg Single submitter ⚠
p.Gly218Val Single submitter ⚠
p.Gly290Arg Single submitter ⚠
p.Gly72Ala Single submitter ⚠
p.His129Arg Single submitter ⚠
p.His378Arg Single submitter ⚠
p.His457Tyr Single submitter ⚠
p.Ile294Val Single submitter ⚠
p.Ile349Val Single submitter ⚠
p.Leu243Arg Single submitter ⚠
p.Lys139Asn Single submitter ⚠
p.Lys181Arg Single submitter ⚠
p.Lys181Asn Single submitter ⚠
p.Lys181Glu Single submitter ⚠
p.Lys244Arg Single submitter ⚠
p.Lys403Ter Single submitter CCDC82-related disorder
p.Lys521Arg Single submitter ⚠
p.Lys89Glu Single submitter ⚠
p.Phe483Leu Single submitter ⚠
p.Ser103Cys Single submitter ⚠
p.Ser187Phe Single submitter ⚠
p.Ser192Asn Single submitter ⚠
p.Ser195Asn Single submitter ⚠
p.Ser251Cys Single submitter ⚠
p.Ser264Ala Single submitter ⚠
p.Ser40Gly Single submitter ⚠
p.Ser40Thr Single submitter ⚠
p.Ser470Arg Single submitter ⚠
p.Ser69fs Single submitter
p.Ser97Gly Single submitter ⚠
p.Thr141Ile Single submitter ⚠
p.Thr9Arg Single submitter ⚠
p.Tyr337Cys Single submitter ⚠
p.Tyr536Asp Single submitter ⚠
p.Val214Ile Single submitter ⚠
p.Asp125fs No assertion criteria