CCDC87 — 141 ClinVar variants

All ClinVar germline CCDC87 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

10 Likely benign · 131 Uncertain significance

Full CCDC87 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 131

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 96

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

Predictors split 35

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

All CCDC87 variants

Likely benign 10

p.Arg307Gln Single submitter
p.Arg447Gln Single submitter
p.Arg723Gln Single submitter
p.Arg96Gln Single submitter
p.Glu8= Single submitter
p.His106Tyr Single submitter
p.Ile793Val Single submitter
p.Ile84Thr Single submitter
p.Leu833= Single submitter
p.Ser300Leu Single submitter

Uncertain significance 131

p.Ala118Val Single submitter ⚠
p.Ala181Val Single submitter ⚠
p.Ala201Ser Single submitter ⚠
p.Ala201Val Single submitter ⚠
p.Ala322Glu Single submitter ⚠
p.Ala390Thr Single submitter ⚠
p.Ala530Val Single submitter ⚠
p.Ala626Thr Single submitter ⚠
p.Ala72Thr Single submitter ⚠
p.Ala79Thr Single submitter ⚠
p.Arg113Gln Single submitter ⚠
p.Arg130Leu Single submitter ⚠
p.Arg142Lys Single submitter ⚠
p.Arg153Pro Single submitter ⚠
p.Arg153Trp Single submitter ⚠
p.Arg17Pro Single submitter ⚠
p.Arg20Pro Single submitter ⚠
p.Arg235His Single submitter ⚠
p.Arg28Met Single submitter ⚠
p.Arg370Cys Single submitter ⚠
p.Arg387Cys Single submitter ⚠
p.Arg394Leu Single submitter ⚠
p.Arg43Gly Single submitter ⚠
p.Arg447Trp Single submitter ⚠
p.Arg451Gly Single submitter ⚠
p.Arg533His Single submitter ⚠
p.Arg533Leu Single submitter ⚠
p.Arg723Leu Single submitter ⚠
p.Arg731Trp Single submitter ⚠
p.Arg750His Single submitter ⚠
p.Arg769Gln Single submitter ⚠
p.Arg80Gln Single submitter ⚠
p.Arg824Gln Single submitter ⚠
p.Arg825Gln Single submitter ⚠
p.Arg827Cys Single submitter ⚠
p.Arg827His Single submitter ⚠
p.Arg82Cys Single submitter ⚠
p.Asn554His Single submitter ⚠
p.Asn656Lys Single submitter ⚠
p.Asn777His Single submitter ⚠
p.Asp356Ala Single submitter ⚠
p.Asp505Glu Single submitter ⚠
p.Asp522Asn Single submitter ⚠
p.Asp700Gly Single submitter ⚠
p.Cys199Tyr Single submitter ⚠
p.Cys303Ser Single submitter ⚠
p.Gln221Arg Single submitter ⚠
p.Gln35Pro Single submitter ⚠
p.Gln406Pro Single submitter ⚠
p.Gln46Arg Single submitter ⚠
p.Gln511Lys Single submitter ⚠
p.Gln539His Single submitter ⚠
p.Glu101Lys Single submitter ⚠
p.Glu125Lys Single submitter ⚠
p.Glu186Gly Single submitter ⚠
p.Glu275Lys Single submitter ⚠
p.Glu317Val Single submitter ⚠
p.Glu355Asp Single submitter ⚠
p.Glu367Asp Single submitter ⚠
p.Glu605Gly Single submitter ⚠
p.Glu642Gln Single submitter ⚠
p.Glu644Asp Single submitter ⚠
p.Glu780Ala Single submitter ⚠
p.Glu788Lys Single submitter ⚠
p.Glu78Val Single submitter ⚠
p.Glu796Lys Single submitter ⚠
p.Glu8Lys Single submitter ⚠
p.Glu90Lys Single submitter ⚠
p.His393Arg Single submitter ⚠
p.His610Pro Single submitter ⚠
p.His771Gln Single submitter ⚠
p.Ile270Thr Single submitter ⚠
p.Ile459Thr Single submitter ⚠
p.Ile541Val Single submitter ⚠
p.Ile612Val Single submitter ⚠
p.Leu116Phe Single submitter ⚠
p.Leu122Val Single submitter ⚠
p.Leu132Gln Single submitter ⚠
p.Leu158Phe Single submitter ⚠
p.Leu206Met Single submitter ⚠
p.Leu230Phe Single submitter ⚠
p.Leu24Pro Single submitter ⚠
p.Leu252Met Single submitter ⚠
p.Leu469Val Single submitter ⚠
p.Leu473Pro Single submitter ⚠
p.Leu473Val Single submitter ⚠
p.Leu556Ser Single submitter ⚠
p.Leu81Val Single submitter ⚠
p.Lys194Arg Single submitter ⚠
p.Lys272Asn Single submitter ⚠
p.Lys536Glu Single submitter ⚠
p.Lys64Arg Single submitter ⚠
p.Lys6Arg Single submitter ⚠
p.Lys813Glu Single submitter ⚠
p.Met283Leu Single submitter ⚠
p.Met312Ile Single submitter ⚠
p.Met312Leu Single submitter ⚠
p.Met481Ile Single submitter ⚠
p.Phe422Val Single submitter ⚠
p.Phe608Val Single submitter ⚠
p.Pro208His Single submitter ⚠
p.Pro236Ala Single submitter ⚠
p.Pro243Gln Single submitter ⚠
p.Pro256Arg Single submitter ⚠
p.Pro268Leu Single submitter ⚠
p.Pro346Leu Single submitter ⚠
p.Pro38Ala Single submitter ⚠
p.Pro39Leu Single submitter ⚠
p.Pro418Ser Single submitter ⚠
p.Pro423Leu Single submitter ⚠
p.Pro49Leu Single submitter ⚠
p.Pro538Leu Single submitter ⚠
p.Pro637Leu Single submitter ⚠
p.Pro646Ser Single submitter ⚠
p.Pro669Ser Single submitter ⚠
p.Pro77Leu Single submitter ⚠
p.Pro99Leu Single submitter ⚠
p.Ser279Thr Single submitter ⚠
p.Ser298Phe Single submitter ⚠
p.Ser568Leu Single submitter ⚠
p.Thr430Asn Single submitter ⚠
p.Thr525Ile Single submitter ⚠
p.Thr755Ala Single submitter ⚠
p.Trp319Cys Single submitter ⚠
p.Trp588Gly Single submitter ⚠
p.Tyr818Cys Single submitter ⚠
p.Val353Met Single submitter ⚠
p.Val439Ile Single submitter ⚠
p.Val546Gly Single submitter ⚠
p.Val699Met Single submitter ⚠
p.Val798Leu Single submitter ⚠