CCDC167 — 21 ClinVar variants
All ClinVar germline CCDC167 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
2 Likely benign · 19 Uncertain significance
Full CCDC167 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC167 p.Ala60Ser Uncertain significance Single submitter
- CCDC167 p.Arg26Gln Uncertain significance Single submitter
- CCDC167 p.Asn77Ser Uncertain significance Single submitter
- CCDC167 p.Asp16Asn Uncertain significance Single submitter
- CCDC167 p.Gly17Arg Uncertain significance Single submitter
- CCDC167 p.Lys3Glu Uncertain significance Single submitter
- CCDC167 p.Lys4Asn Uncertain significance Single submitter
- CCDC167 p.Lys59Arg Uncertain significance Single submitter
- CCDC167 p.Ser61Ala Uncertain significance Single submitter
- CCDC167 p.Thr89Met Uncertain significance Single submitter
- CCDC167 p.Val91Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CCDC167 p.Arg26Trp Uncertain significance Single submitter
- CCDC167 p.Arg35Gly Uncertain significance Single submitter
- CCDC167 p.Arg39Trp Uncertain significance Single submitter
- CCDC167 p.Arg75Gln Uncertain significance Single submitter
- CCDC167 p.Glu19Gly Uncertain significance Single submitter
- CCDC167 p.Glu64Gly Uncertain significance Single submitter
- CCDC167 p.Leu56Gln Uncertain significance Single submitter
- CCDC167 p.Leu90Phe Uncertain significance Single submitter
All CCDC167 variants
Likely benign 2
- p.Arg39Gln Single submitter
- p.Val91Ile Single submitter
Uncertain significance 19
- p.Ala60Ser Single submitter ⚠
- p.Arg26Gln Single submitter ⚠
- p.Arg26Trp Single submitter ⚠
- p.Arg35Gly Single submitter ⚠
- p.Arg39Trp Single submitter ⚠
- p.Arg75Gln Single submitter ⚠
- p.Asn77Ser Single submitter ⚠
- p.Asp16Asn Single submitter ⚠
- p.Glu19Gly Single submitter ⚠
- p.Glu64Gly Single submitter ⚠
- p.Gly17Arg Single submitter ⚠
- p.Leu56Gln Single submitter ⚠
- p.Leu90Phe Single submitter ⚠
- p.Lys3Glu Single submitter ⚠
- p.Lys4Asn Single submitter ⚠
- p.Lys59Arg Single submitter ⚠
- p.Ser61Ala Single submitter ⚠
- p.Thr89Met Single submitter ⚠
- p.Val91Ala Single submitter ⚠