CCDC80 — 142 ClinVar variants
All ClinVar germline CCDC80 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →
4 Benign · 13 Likely benign · 125 Uncertain significance
Full CCDC80 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 128
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 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC80 p.Ala101Val Uncertain significance Single submitter
- CCDC80 p.Ala110Pro Uncertain significance Single submitter
- CCDC80 p.Ala110Ser Uncertain significance Single submitter
- CCDC80 p.Ala125Pro Uncertain significance Single submitter
- CCDC80 p.Ala318Pro Uncertain significance Single submitter
- CCDC80 p.Ala335Thr Uncertain significance Single submitter
- CCDC80 p.Ala336Ser Uncertain significance Single submitter
- CCDC80 p.Ala340Gly Uncertain significance Single submitter
- CCDC80 p.Ala350Ser Uncertain significance Single submitter
- CCDC80 p.Ala630Ser Uncertain significance Single submitter
- CCDC80 p.Ala904Val Uncertain significance Single submitter
- CCDC80 p.Ala93Thr Uncertain significance Single submitter
- CCDC80 p.Arg273Lys Uncertain significance Single submitter
- CCDC80 p.Arg327Gln Uncertain significance Single submitter
- CCDC80 p.Arg349Thr Uncertain significance Single submitter
- CCDC80 p.Arg419Gln Uncertain significance Single submitter
- CCDC80 p.Arg426Lys Uncertain significance Single submitter
- CCDC80 p.Arg467His Uncertain significance Single submitter
- CCDC80 p.Arg471Gln Uncertain significance Single submitter
- CCDC80 p.Arg702Ser Uncertain significance Single submitter
- CCDC80 p.Arg746Gln Uncertain significance Single submitter
- CCDC80 p.Arg746Pro Uncertain significance Single submitter
- CCDC80 p.Arg776Gln Uncertain significance Single submitter
- CCDC80 p.Arg776Trp Uncertain significance Single submitter
- CCDC80 p.Arg842Gln Uncertain significance Single submitter
- CCDC80 p.Asn556Asp Uncertain significance Single submitter
- CCDC80 p.Asp174Asn Uncertain significance Single submitter
- CCDC80 p.Asp421Tyr Uncertain significance Single submitter
- CCDC80 p.Asp560Gly Uncertain significance Single submitter
- CCDC80 p.Asp614Asn Uncertain significance Single submitter
- CCDC80 p.Asp844Asn Uncertain significance Single submitter
- CCDC80 p.Asp891Asn Uncertain significance Single submitter
- CCDC80 p.Gln192His Uncertain significance Single submitter
- CCDC80 p.Gln498Pro Uncertain significance Single submitter
- CCDC80 p.Gln797Glu Uncertain significance Single submitter
- CCDC80 p.Glu121Ala Uncertain significance Single submitter
- CCDC80 p.Glu270Lys Uncertain significance Single submitter
- CCDC80 p.Glu309Lys Uncertain significance Single submitter
- CCDC80 p.Glu325Asp Uncertain significance Single submitter
- CCDC80 p.Glu425Lys Uncertain significance Single submitter
- CCDC80 p.Glu505Asp Uncertain significance Single submitter
- CCDC80 p.Glu523Lys Uncertain significance Single submitter
- CCDC80 p.Glu915Lys Uncertain significance Single submitter
- CCDC80 p.Gly197Glu Uncertain significance Single submitter
- CCDC80 p.Gly307Arg Uncertain significance Single submitter
- CCDC80 p.Gly35Glu Uncertain significance Single submitter
- CCDC80 p.Gly873Arg Uncertain significance Single submitter
- CCDC80 p.Gly920Ser Uncertain significance Single submitter
- CCDC80 p.His473Arg Uncertain significance Single submitter
- CCDC80 p.His540Gln Uncertain significance Single submitter
- CCDC80 p.His603Gln Uncertain significance Single submitter
- CCDC80 p.His675Pro Uncertain significance Single submitter
- CCDC80 p.Ile61Thr Uncertain significance Single submitter
- CCDC80 p.Ile673Val Uncertain significance Single submitter
- CCDC80 p.Ile888Thr Uncertain significance Single submitter
- CCDC80 p.Leu171Met Uncertain significance Single submitter
- CCDC80 p.Lys172Glu Uncertain significance Single submitter
- CCDC80 p.Lys509Arg Uncertain significance Single submitter
- CCDC80 p.Lys509Asn Uncertain significance Single submitter
- CCDC80 p.Lys533Glu Uncertain significance Single submitter
- CCDC80 p.Lys622Arg Uncertain significance Single submitter
- CCDC80 p.Lys622Asn Uncertain significance Single submitter
- CCDC80 p.Lys851Glu Uncertain significance Single submitter
- CCDC80 p.Met117Leu Uncertain significance Single submitter
- CCDC80 p.Met11Val Uncertain significance Single submitter
- CCDC80 p.Met671Val Uncertain significance Single submitter
- CCDC80 p.Met866Thr Uncertain significance Single submitter
- CCDC80 p.Phe771Val Uncertain significance Single submitter
- CCDC80 p.Phe864Tyr Uncertain significance Single submitter
- CCDC80 p.Pro23Ser Uncertain significance Single submitter
- CCDC80 p.Pro23Thr Uncertain significance Single submitter
- CCDC80 p.Pro339Ser Uncertain significance Single submitter
- CCDC80 p.Pro348Arg Uncertain significance Single submitter
- CCDC80 p.Pro375Ser Uncertain significance Single submitter
- CCDC80 p.Pro408Thr Uncertain significance Single submitter
- CCDC80 p.Pro416Ser Uncertain significance Single submitter
- CCDC80 p.Pro482Gln Uncertain significance Single submitter
- CCDC80 p.Ser138Phe Uncertain significance Single submitter
- CCDC80 p.Ser308Gly Uncertain significance Single submitter
- CCDC80 p.Ser441Arg Uncertain significance Single submitter
- CCDC80 p.Ser79Thr Uncertain significance Single submitter
- CCDC80 p.Thr591Ile Uncertain significance Single submitter
- CCDC80 p.Thr732Lys Uncertain significance Single submitter
- CCDC80 p.Thr814Ile Uncertain significance Single submitter
- CCDC80 p.Tyr248Cys Uncertain significance Single submitter
- CCDC80 p.Tyr638His Uncertain significance Single submitter
- CCDC80 p.Tyr727Cys Uncertain significance Single submitter
- CCDC80 p.Val102Leu Uncertain significance Single submitter
- CCDC80 p.Val175Ala Uncertain significance Single submitter
- CCDC80 p.Val200Met Uncertain significance Single submitter
- CCDC80 p.Val729Ile Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- CCDC80 p.Ala805Val Benign Multiple submitters
- CCDC80 p.Tyr938His Likely benign Multiple submitters
- CCDC80 p.Ala368Glu Uncertain significance Single submitter
- CCDC80 p.Arg419Trp Uncertain significance Single submitter
- CCDC80 p.Arg50Trp Uncertain significance Single submitter
- CCDC80 p.Arg514Trp Uncertain significance Single submitter
- CCDC80 p.Arg642Cys Uncertain significance Single submitter
- CCDC80 p.Asp738His Uncertain significance Single submitter
- CCDC80 p.Asp932Ala Uncertain significance Single submitter
- CCDC80 p.Glu195Asp Uncertain significance Single submitter
- CCDC80 p.Glu246Ala Uncertain significance Single submitter
- CCDC80 p.Glu259Lys Uncertain significance Single submitter
- CCDC80 p.Glu573Gln Uncertain significance Single submitter
- CCDC80 p.Glu704Gly Uncertain significance Single submitter
- CCDC80 p.Glu751Gln Uncertain significance Single submitter
- CCDC80 p.Gly198Val Uncertain significance Single submitter
- CCDC80 p.Gly621Ser Uncertain significance Single submitter
- CCDC80 p.Ile184Met Uncertain significance Single submitter
- CCDC80 p.Leu531Phe Uncertain significance Single submitter
- CCDC80 p.Leu626Phe Uncertain significance Single submitter
- CCDC80 p.Leu692Met Uncertain significance Single submitter
- CCDC80 p.Lys587Asn Uncertain significance Single submitter
- CCDC80 p.Lys672Asn Uncertain significance Single submitter
- CCDC80 p.Met117Ile Uncertain significance Single submitter
- CCDC80 p.Met883Ile Uncertain significance Single submitter
- CCDC80 p.Phe463Cys Uncertain significance Single submitter
- CCDC80 p.Pro157Ser Uncertain significance Single submitter
- CCDC80 p.Pro249Ala Uncertain significance Single submitter
- CCDC80 p.Pro861Leu Uncertain significance Single submitter
- CCDC80 p.Pro949Leu Uncertain significance Single submitter
- CCDC80 p.Ser618Pro Uncertain significance Single submitter
- CCDC80 p.Ser95Trp Uncertain significance Single submitter
- CCDC80 p.Thr629Ala Uncertain significance Single submitter
- CCDC80 p.Val102Met Likely benign Single submitter
- CCDC80 p.Val188Met Uncertain significance Single submitter
- CCDC80 p.Val252Ile Uncertain significance Single submitter
- CCDC80 p.Val828Met Uncertain significance Single submitter
All CCDC80 variants
Benign 4
- p.Ala805Val Multiple submitters ⚠
- p.His473Tyr Multiple submitters
- p.Tyr163= Multiple submitters
- p.Thr89= Single submitter
Likely benign 13
- p.Tyr938His Multiple submitters ⚠
- p.Ala338Thr Single submitter
- p.Ala613= Single submitter
- p.Ala613Thr Single submitter
- p.Arg462His Single submitter
- p.Arg467= Single submitter
- p.Arg696His Single submitter
- p.Asn444Asp Single submitter
- p.Asp522Glu Single submitter
- p.Lys609Arg Single submitter
- p.Thr398Ala Single submitter
- p.Val102Met Single submitter ⚠
- p.Val845Ile Single submitter
Uncertain significance 125
- p.Ala101Val Single submitter ⚠
- p.Ala110Pro Single submitter ⚠
- p.Ala110Ser Single submitter ⚠
- p.Ala125Pro Single submitter ⚠
- p.Ala318Pro Single submitter ⚠
- p.Ala335Thr Single submitter ⚠
- p.Ala336Ser Single submitter ⚠
- p.Ala340Gly Single submitter ⚠
- p.Ala350Ser Single submitter ⚠
- p.Ala368Glu Single submitter ⚠
- p.Ala630Ser Single submitter ⚠
- p.Ala904Val Single submitter ⚠
- p.Ala93Thr Single submitter ⚠
- p.Arg273Lys Single submitter ⚠
- p.Arg327Gln Single submitter ⚠
- p.Arg349Thr Single submitter ⚠
- p.Arg419Gln Single submitter ⚠
- p.Arg419Trp Single submitter ⚠
- p.Arg426Lys Single submitter ⚠
- p.Arg467His Single submitter ⚠
- p.Arg471Gln Single submitter ⚠
- p.Arg50Trp Single submitter ⚠
- p.Arg514Trp Single submitter ⚠
- p.Arg642Cys Single submitter ⚠
- p.Arg702Ser Single submitter ⚠
- p.Arg746Gln Single submitter ⚠
- p.Arg746Pro Single submitter ⚠
- p.Arg776Gln Single submitter ⚠
- p.Arg776Trp Single submitter ⚠
- p.Arg842Gln Single submitter ⚠
- p.Asn556Asp Single submitter ⚠
- p.Asp174Asn Single submitter ⚠
- p.Asp421Tyr Single submitter ⚠
- p.Asp560Gly Single submitter ⚠
- p.Asp614Asn Single submitter ⚠
- p.Asp738His Single submitter ⚠
- p.Asp844Asn Single submitter ⚠
- p.Asp891Asn Single submitter ⚠
- p.Asp932Ala Single submitter ⚠
- p.Gln192His Single submitter ⚠
- p.Gln498Pro Single submitter ⚠
- p.Gln797Glu Single submitter ⚠
- p.Glu121Ala Single submitter ⚠
- p.Glu195Asp Single submitter ⚠
- p.Glu246Ala Single submitter ⚠
- p.Glu259Lys Single submitter ⚠
- p.Glu270Lys Single submitter ⚠
- p.Glu309Lys Single submitter ⚠
- p.Glu325Asp Single submitter ⚠
- p.Glu425Lys Single submitter ⚠
- p.Glu505Asp Single submitter ⚠
- p.Glu523Lys Single submitter ⚠
- p.Glu573Gln Single submitter ⚠
- p.Glu704Gly Single submitter ⚠
- p.Glu751Gln Single submitter ⚠
- p.Glu915Lys Single submitter ⚠
- p.Gly197Glu Single submitter ⚠
- p.Gly198Val Single submitter ⚠
- p.Gly307Arg Single submitter ⚠
- p.Gly35Glu Single submitter ⚠
- p.Gly621Ser Single submitter ⚠
- p.Gly873Arg Single submitter ⚠
- p.Gly920Ser Single submitter ⚠
- p.His473Arg Single submitter ⚠
- p.His540Gln Single submitter ⚠
- p.His603Gln Single submitter ⚠
- p.His675Pro Single submitter ⚠
- p.Ile184Met Single submitter ⚠
- p.Ile61Thr Single submitter ⚠
- p.Ile673Val Single submitter ⚠
- p.Ile888Thr Single submitter ⚠
- p.Leu171Met Single submitter ⚠
- p.Leu531Phe Single submitter ⚠
- p.Leu626Phe Single submitter ⚠
- p.Leu692Met Single submitter ⚠
- p.Lys172Glu Single submitter ⚠
- p.Lys509Arg Single submitter ⚠
- p.Lys509Asn Single submitter ⚠
- p.Lys533Glu Single submitter ⚠
- p.Lys587Asn Single submitter ⚠
- p.Lys622Arg Single submitter ⚠
- p.Lys622Asn Single submitter ⚠
- p.Lys672Asn Single submitter ⚠
- p.Lys851Glu Single submitter ⚠
- p.Met117Ile Single submitter ⚠
- p.Met117Leu Single submitter ⚠
- p.Met11Val Single submitter ⚠
- p.Met671Val Single submitter ⚠
- p.Met866Thr Single submitter ⚠
- p.Met883Ile Single submitter ⚠
- p.Phe463Cys Single submitter ⚠
- p.Phe771Val Single submitter ⚠
- p.Phe864Tyr Single submitter ⚠
- p.Pro157Ser Single submitter ⚠
- p.Pro23Ser Single submitter ⚠
- p.Pro23Thr Single submitter ⚠
- p.Pro249Ala Single submitter ⚠
- p.Pro339Ser Single submitter ⚠
- p.Pro348Arg Single submitter ⚠
- p.Pro375Ser Single submitter ⚠
- p.Pro408Thr Single submitter ⚠
- p.Pro416Ser Single submitter ⚠
- p.Pro482Gln Single submitter ⚠
- p.Pro861Leu Single submitter ⚠
- p.Pro949Leu Single submitter ⚠
- p.Ser138Phe Single submitter ⚠
- p.Ser308Gly Single submitter ⚠
- p.Ser441Arg Single submitter ⚠
- p.Ser618Pro Single submitter ⚠
- p.Ser79Thr Single submitter ⚠
- p.Ser95Trp Single submitter ⚠
- p.Thr591Ile Single submitter ⚠
- p.Thr629Ala Single submitter ⚠
- p.Thr732Lys Single submitter ⚠
- p.Thr814Ile Single submitter ⚠
- p.Tyr248Cys Single submitter ⚠
- p.Tyr638His Single submitter ⚠
- p.Tyr727Cys Single submitter ⚠
- p.Val102Leu Single submitter ⚠
- p.Val175Ala Single submitter ⚠
- p.Val188Met Single submitter ⚠
- p.Val200Met Single submitter ⚠
- p.Val252Ile Single submitter ⚠
- p.Val729Ile Single submitter ⚠
- p.Val828Met Single submitter ⚠