CCDC27 — 134 ClinVar variants

All ClinVar germline CCDC27 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

1 Benign · 16 Likely benign · 117 Uncertain significance

Full CCDC27 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 118

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 78

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 CCDC27 variants

Benign 1

p.Arg104Lys Single submitter

Likely benign 16

p.Ala305Thr Single submitter
p.Ala400Ser Single submitter
p.Arg458Gln Single submitter
p.Arg90His Single submitter ⚠
p.Asp292Glu Single submitter
p.Glu310= Single submitter
p.Gly117Ser Single submitter
p.Gly157Glu Single submitter
p.Leu582= Single submitter
p.Met227Thr Single submitter
p.Pro22Ser Single submitter
p.Pro390= Single submitter
p.Ser58Leu Single submitter
p.Val183Leu Single submitter
p.Val359Ala Single submitter
p.Arg474= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 117

p.Ala112Pro Single submitter ⚠
p.Ala112Val Single submitter ⚠
p.Ala153Val Single submitter ⚠
p.Ala293Thr Single submitter ⚠
p.Ala324Val Single submitter ⚠
p.Ala574Val Single submitter ⚠
p.Ala78Asp Single submitter ⚠
p.Ala78Thr Single submitter ⚠
p.Arg125Gln Single submitter ⚠
p.Arg19Trp Single submitter ⚠
p.Arg201Gln Single submitter ⚠
p.Arg398Ser Single submitter ⚠
p.Arg474Gln Single submitter ⚠
p.Arg489Gln Single submitter ⚠
p.Arg509Gln Single submitter ⚠
p.Arg522Gln Single submitter ⚠
p.Arg522Trp Single submitter ⚠
p.Arg549Lys Single submitter ⚠
p.Arg572Cys Single submitter ⚠
p.Arg572His Single submitter ⚠
p.Arg90Cys Single submitter ⚠
p.Asn161Asp Single submitter ⚠
p.Asp17Val Single submitter ⚠
p.Asp333Asn Single submitter ⚠
p.Asp352Asn Single submitter ⚠
p.Asp381Ala Single submitter ⚠
p.Asp381Tyr Single submitter ⚠
p.Asp451Gly Single submitter ⚠
p.Asp610Ala Single submitter ⚠
p.Cys134Tyr Single submitter ⚠
p.Gln136His Single submitter ⚠
p.Gln249His Single submitter ⚠
p.Gln314Leu Single submitter ⚠
p.Gln479Arg Single submitter ⚠
p.Gln548Lys Single submitter ⚠
p.Glu253Lys Single submitter ⚠
p.Glu263Lys Single submitter ⚠
p.Glu310Lys Single submitter ⚠
p.Glu312Lys Single submitter ⚠
p.Glu338Lys Single submitter ⚠
p.Glu346Gln Single submitter ⚠
p.Glu351Gln Single submitter ⚠
p.Glu374Gly Single submitter ⚠
p.Glu377Asp Single submitter ⚠
p.Glu392Gly Single submitter ⚠
p.Glu394Gly Single submitter ⚠
p.Glu405Gly Single submitter ⚠
p.Glu430Gly Single submitter ⚠
p.Glu496Val Single submitter ⚠
p.Glu502Asp Single submitter ⚠
p.Glu514Gln Single submitter ⚠
p.Glu541Lys Single submitter ⚠
p.Glu555Lys Single submitter ⚠
p.Glu583Gln Single submitter ⚠
p.Glu583Lys Single submitter ⚠
p.Glu605Lys Single submitter ⚠
p.Glu643Gln Single submitter ⚠
p.Gly277Asp Single submitter ⚠
p.Gly345Arg Single submitter ⚠
p.His309Leu Single submitter ⚠
p.His309Tyr Single submitter ⚠
p.His315Tyr Single submitter ⚠
p.His366Arg Single submitter ⚠
p.Ile159Thr Single submitter ⚠
p.Ile564Thr Single submitter ⚠
p.Leu188Phe Single submitter ⚠
p.Leu290Phe Single submitter ⚠
p.Leu429Gln Single submitter ⚠
p.Leu488Phe Single submitter ⚠
p.Leu542Val Single submitter ⚠
p.Leu575Arg Single submitter ⚠
p.Lys105Glu Single submitter ⚠
p.Lys202Asn Single submitter ⚠
p.Lys225Asn Single submitter ⚠
p.Lys225Glu Single submitter ⚠
p.Lys521Arg Single submitter ⚠
p.Lys651Gln Single submitter ⚠
p.Met119Thr Single submitter ⚠
p.Met144Ile Single submitter ⚠
p.Met227Ile Single submitter ⚠
p.Met267Ile Single submitter ⚠
p.Met45Ile Single submitter ⚠
p.Met73Ile Single submitter ⚠
p.Phe306Leu Single submitter ⚠
p.Phe31Ser Single submitter ⚠
p.Phe407Cys Single submitter ⚠
p.Phe407Leu Single submitter ⚠
p.Pro109Ser Single submitter ⚠
p.Pro211Leu Single submitter ⚠
p.Pro326Leu Single submitter ⚠
p.Pro396Leu Single submitter ⚠
p.Pro637Ala Single submitter ⚠
p.Pro637Arg Single submitter ⚠
p.Ser145Pro Single submitter ⚠
p.Ser219Phe Single submitter ⚠
p.Ser29Cys Single submitter ⚠
p.Ser323Phe Single submitter ⚠
p.Ser364Thr Single submitter ⚠
p.Ser401Pro Single submitter ⚠
p.Ser406Trp Single submitter ⚠
p.Ser559Asn Single submitter ⚠
p.Ser580Tyr Single submitter ⚠
p.Ser95Leu Single submitter ⚠
p.Thr116Ala Single submitter ⚠
p.Thr130Met Single submitter ⚠
p.Thr165Asn Single submitter ⚠
p.Thr213Ile Single submitter ⚠
p.Thr482Ile Single submitter ⚠
p.Thr91Met Single submitter ⚠
p.Trp166Ser Single submitter ⚠
p.Trp317Cys Single submitter ⚠
p.Tyr418Ser Single submitter ⚠
p.Val212Phe Single submitter ⚠
p.Val248Ile Single submitter ⚠
p.Val365Met Single submitter ⚠
p.Val442Leu Single submitter ⚠
p.Val68Leu Single submitter ⚠