CBY2 — 85 ClinVar variants

All ClinVar germline CBY2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

3 Likely benign · 82 Uncertain significance

Full CBY2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 46

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

Predictors split 36

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

All CBY2 variants

Likely benign 3

c.157-8T>C Single submitter
p.Val228Ala Single submitter
p.Val345Ala Single submitter

Uncertain significance 82

p.Ala163Thr Single submitter ⚠
p.Ala205Asp Single submitter ⚠
p.Ala214Thr Single submitter ⚠
p.Ala214Val Single submitter ⚠
p.Ala224Glu Single submitter ⚠
p.Ala269Val Single submitter ⚠
p.Ala76Thr Single submitter ⚠
p.Arg141His Single submitter ⚠
p.Arg183Ser Single submitter ⚠
p.Arg209Gly Single submitter ⚠
p.Arg240His Single submitter ⚠
p.Arg251Trp Single submitter ⚠
p.Arg28Ser Single submitter ⚠
p.Arg325Gly Single submitter ⚠
p.Arg374Pro Single submitter ⚠
p.Arg423Cys Single submitter ⚠
p.Arg423His Single submitter ⚠
p.Arg438Gly Single submitter ⚠
p.Arg82Cys Single submitter ⚠
p.Asn172Ser Single submitter ⚠
p.Asn193Asp Single submitter ⚠
p.Asn380Lys Single submitter ⚠
p.Asn404Lys Single submitter ⚠
p.Asn64Ser Single submitter ⚠
p.Asp101His Single submitter ⚠
p.Asp111Asn Single submitter ⚠
p.Asp125Glu Single submitter ⚠
p.Asp132Glu Single submitter ⚠
p.Asp351Asn Single submitter ⚠
p.Asp36Gly Single submitter ⚠
p.Cys292Gly Single submitter ⚠
p.Gln197His Single submitter ⚠
p.Gln22Arg Single submitter ⚠
p.Gln367His Single submitter ⚠
p.Gln384Pro Single submitter ⚠
p.Glu138Asp Single submitter ⚠
p.Glu138Gly Single submitter ⚠
p.Glu171Lys Single submitter ⚠
p.Glu184Lys Single submitter ⚠
p.Glu201Gly Single submitter ⚠
p.Glu211Lys Single submitter ⚠
p.Glu243Lys Single submitter ⚠
p.Glu309Ala Single submitter ⚠
p.Glu309Lys Single submitter ⚠
p.Glu319Asp Single submitter ⚠
p.Glu429Lys Single submitter ⚠
p.Gly303Asp Single submitter ⚠
p.Gly352Cys Single submitter ⚠
p.Gly392Asp Single submitter ⚠
p.Gly54Ser Single submitter ⚠
p.His288Asp Single submitter ⚠
p.His288Gln Single submitter ⚠
p.Ile195Thr Single submitter ⚠
p.Ile428Val Single submitter ⚠
p.Leu296Gln Single submitter ⚠
p.Leu349Arg Single submitter ⚠
p.Leu400Pro Single submitter ⚠
p.Leu42Val Single submitter ⚠
p.Leu62Arg Single submitter ⚠
p.Leu62Ile Single submitter ⚠
p.Met103Val Single submitter ⚠
p.Met188Arg Single submitter ⚠
p.Met330Ile Single submitter ⚠
p.Met330Thr Single submitter ⚠
p.Met424Ile Single submitter ⚠
p.Pro102Ser Single submitter ⚠
p.Pro118Leu Single submitter ⚠
p.Pro215Arg Single submitter ⚠
p.Pro239Thr Single submitter ⚠
p.Pro287Leu Single submitter ⚠
p.Pro51Ser Single submitter ⚠
p.Pro99His Single submitter ⚠
p.Ser39Tyr Single submitter ⚠
p.Ser41Asn Single submitter ⚠
p.Ser439Arg Single submitter ⚠
p.Ser439Ile Single submitter ⚠
p.Ser47Arg Single submitter ⚠
p.Trp200Cys Single submitter ⚠
p.Tyr432Cys Single submitter ⚠
p.Val238Met Single submitter ⚠
p.Val448Phe Single submitter ⚠
p.Val49Ala Single submitter ⚠