CBY3 — 37 ClinVar variants
All ClinVar germline CBY3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
2 Likely benign · 35 Uncertain significance
Full CBY3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CBY3 p.Ala216Pro Uncertain significance Single submitter
- CBY3 p.Ala216Val Uncertain significance Single submitter
- CBY3 p.Arg204His Uncertain significance Single submitter
- CBY3 p.Arg219Lys Uncertain significance Single submitter
- CBY3 p.Asn110Ser Uncertain significance Single submitter
- CBY3 p.Asn129Lys Uncertain significance Single submitter
- CBY3 p.Asp188Val Uncertain significance Single submitter
- CBY3 p.Asp6Gly Uncertain significance Single submitter
- CBY3 p.Gln77Lys Uncertain significance Single submitter
- CBY3 p.Gln78His Uncertain significance Single submitter
- CBY3 p.Glu201Gln Uncertain significance Single submitter
- CBY3 p.Gly20Ser Uncertain significance Single submitter
- CBY3 p.Gly29Glu Uncertain significance Single submitter
- CBY3 p.His68Tyr Uncertain significance Single submitter
- CBY3 p.Leu181Val Uncertain significance Single submitter
- CBY3 p.Met194Lys Uncertain significance Single submitter
- CBY3 p.Met197Thr Uncertain significance Single submitter
- CBY3 p.Met233Arg Uncertain significance Single submitter
- CBY3 p.Pro206Ser Uncertain significance Single submitter
- CBY3 p.Pro236Leu Uncertain significance Single submitter
- CBY3 p.Ser169Ile Uncertain significance Single submitter
- CBY3 p.Ser70Arg Uncertain significance Single submitter
- CBY3 p.Thr141Pro Uncertain significance Single submitter
- CBY3 p.Thr66Met Uncertain significance Single submitter
- CBY3 p.Thr75Ala Uncertain significance Single submitter
- CBY3 p.Val171Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CBY3 p.Arg196Cys Uncertain significance Single submitter
- CBY3 p.Arg196His Uncertain significance Single submitter
- CBY3 p.Arg41His Uncertain significance Single submitter
- CBY3 p.Gly117Asp Uncertain significance Single submitter
- CBY3 p.Met194Ile Uncertain significance Single submitter
- CBY3 p.Ser48Cys Uncertain significance Single submitter
- CBY3 p.Thr191Ile Uncertain significance Single submitter
- CBY3 p.Trp73Gly Uncertain significance Single submitter
- CBY3 p.Val208Met Uncertain significance Single submitter
All CBY3 variants
Likely benign 2
- p.Arg166Gln Single submitter
- p.Gln77Arg Single submitter
Uncertain significance 35
- p.Ala216Pro Single submitter ⚠
- p.Ala216Val Single submitter ⚠
- p.Arg196Cys Single submitter ⚠
- p.Arg196His Single submitter ⚠
- p.Arg204His Single submitter ⚠
- p.Arg219Lys Single submitter ⚠
- p.Arg41His Single submitter ⚠
- p.Asn110Ser Single submitter ⚠
- p.Asn129Lys Single submitter ⚠
- p.Asp188Val Single submitter ⚠
- p.Asp6Gly Single submitter ⚠
- p.Gln77Lys Single submitter ⚠
- p.Gln78His Single submitter ⚠
- p.Glu201Gln Single submitter ⚠
- p.Gly117Asp Single submitter ⚠
- p.Gly20Ser Single submitter ⚠
- p.Gly29Glu Single submitter ⚠
- p.His68Tyr Single submitter ⚠
- p.Leu181Val Single submitter ⚠
- p.Met194Ile Single submitter ⚠
- p.Met194Lys Single submitter ⚠
- p.Met197Thr Single submitter ⚠
- p.Met233Arg Single submitter ⚠
- p.Pro206Ser Single submitter ⚠
- p.Pro236Leu Single submitter ⚠
- p.Ser169Ile Single submitter ⚠
- p.Ser48Cys Single submitter ⚠
- p.Ser70Arg Single submitter ⚠
- p.Thr141Pro Single submitter ⚠
- p.Thr191Ile Single submitter ⚠
- p.Thr66Met Single submitter ⚠
- p.Thr75Ala Single submitter ⚠
- p.Trp73Gly Single submitter ⚠
- p.Val171Met Single submitter ⚠
- p.Val208Met Single submitter ⚠