CHIC2 — 11 ClinVar variants
All ClinVar germline CHIC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
2 Likely benign · 9 Uncertain significance
Full CHIC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 4
The independent predictors disagree with each other — read with care.
All CHIC2 variants
Likely benign 2
- p.Leu130= Single submitter
- c.175-5T>C No assertion criteria CHIC2-related disorder
Uncertain significance 9
- p.Arg163Gln Single submitter ⚠
- p.Arg16Gln Single submitter ⚠
- p.Glu20Ala Single submitter ⚠
- p.Ile151Met Single submitter ⚠
- p.Leu75Val Single submitter ⚠
- p.Lys109Arg Single submitter ⚠
- p.Pro160Gln Single submitter ⚠
- p.Ser137Arg Single submitter ⚠
- p.Thr39Ile Single submitter ⚠