CABYR — 79 ClinVar variants
All ClinVar germline CABYR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
1 Likely benign · 78 Uncertain significance
Full CABYR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CABYR c.541+105G>A Uncertain significance Single submitter
- CABYR c.541+155A>C Uncertain significance Single submitter
- CABYR c.541+186G>A Uncertain significance Single submitter
- CABYR c.541+205C>T Uncertain significance Single submitter
- CABYR c.541+255G>A Uncertain significance Single submitter
- CABYR c.541+265A>G Uncertain significance Single submitter
- CABYR c.541+306G>C Uncertain significance Single submitter
- CABYR c.541+407A>G Uncertain significance Single submitter
- CABYR c.541+424A>G Uncertain significance Single submitter
- CABYR c.541+430T>C Uncertain significance Single submitter
- CABYR c.541+477C>A Uncertain significance Single submitter
- CABYR c.541+477C>T Uncertain significance Single submitter
- CABYR c.541+478C>T Uncertain significance Single submitter
- CABYR c.541+495T>A Uncertain significance Single submitter
- CABYR c.541+52T>C Uncertain significance Single submitter
- CABYR c.541+582T>C Uncertain significance Single submitter
- CABYR c.541+657G>A Uncertain significance Single submitter
- CABYR c.541+69G>A Uncertain significance Single submitter
- CABYR c.541+69G>C Uncertain significance Single submitter
- CABYR c.541+711C>T Uncertain significance Single submitter
- CABYR c.541+73T>C Uncertain significance Single submitter
- CABYR c.541+751C>T Uncertain significance Single submitter
- CABYR c.541+771G>A Uncertain significance Single submitter
- CABYR c.541+774A>G Uncertain significance Single submitter
- CABYR c.541+787A>G Uncertain significance Single submitter
- CABYR c.541+834G>C Uncertain significance Single submitter
- CABYR c.541+844G>A Uncertain significance Single submitter
- CABYR c.541+844G>C Uncertain significance Single submitter
- CABYR c.541+873T>C Uncertain significance Single submitter
- CABYR c.541+914A>C Uncertain significance Single submitter
- CABYR c.541+933G>A Uncertain significance Single submitter
- CABYR c.541+94C>T Uncertain significance Single submitter
- CABYR c.541+96G>C Uncertain significance Single submitter
- CABYR p.Arg48Ser Uncertain significance Single submitter
- CABYR p.Asp106His Uncertain significance Single submitter
- CABYR p.Gly130Asp Uncertain significance Single submitter
- CABYR p.Gly138Asp Uncertain significance Single submitter
- CABYR p.Gly139Ser Uncertain significance Single submitter
- CABYR p.Gly139Val Uncertain significance Single submitter
- CABYR p.Gly20Arg Uncertain significance Single submitter
- CABYR p.Leu8Arg Uncertain significance Single submitter
- CABYR p.Lys94Glu Uncertain significance Single submitter
- CABYR p.Met99Leu Uncertain significance Single submitter
- CABYR p.Met99Val Uncertain significance Single submitter
- CABYR p.Pro158Ser Uncertain significance Single submitter
- CABYR p.Pro76Ser Uncertain significance Single submitter
- CABYR p.Ser155Pro Uncertain significance Single submitter
- CABYR p.Ser93Pro Uncertain significance Single submitter
- CABYR p.Thr75Ser Uncertain significance Single submitter
- CABYR p.Tyr115Asn Uncertain significance Single submitter
- CABYR p.Val168Ile Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- CABYR c.541+127C>T Uncertain significance Single submitter
- CABYR c.541+154A>G Uncertain significance Single submitter
- CABYR c.541+199C>T Uncertain significance Single submitter
- CABYR c.541+232C>T Uncertain significance Single submitter
- CABYR c.541+24G>T Uncertain significance Single submitter
- CABYR c.541+294G>T Uncertain significance Single submitter
- CABYR c.541+302G>T Uncertain significance Single submitter
- CABYR c.541+337T>C Uncertain significance Single submitter
- CABYR c.541+358T>G Uncertain significance Single submitter
- CABYR c.541+387G>A Uncertain significance Single submitter
- CABYR c.541+445A>C Uncertain significance Single submitter
- CABYR c.541+445A>G Uncertain significance Single submitter
- CABYR c.541+455G>C Uncertain significance Single submitter
- CABYR c.541+474T>G Uncertain significance Single submitter
- CABYR c.541+517C>A Uncertain significance Single submitter
- CABYR c.541+544C>T Uncertain significance Single submitter
- CABYR c.541+570A>T Uncertain significance Single submitter
- CABYR c.541+624G>A Uncertain significance Single submitter
- CABYR c.541+676A>G Uncertain significance Single submitter
- CABYR c.541+766C>G Uncertain significance Single submitter
- CABYR c.541+81G>A Uncertain significance Single submitter
- CABYR c.541+865G>T Uncertain significance Single submitter
- CABYR p.Arg7Ile Uncertain significance Single submitter
- CABYR p.Asn29Ser Uncertain significance Single submitter
- CABYR p.Lys148Asn Uncertain significance Single submitter
- CABYR p.Phe122Ser Uncertain significance Single submitter
- CABYR p.Thr134Met Uncertain significance Single submitter
All CABYR variants
Likely benign 1
- c.541+322T>C Single submitter
Uncertain significance 78
- c.541+105G>A Single submitter ⚠
- c.541+127C>T Single submitter ⚠
- c.541+154A>G Single submitter ⚠
- c.541+155A>C Single submitter ⚠
- c.541+186G>A Single submitter ⚠
- c.541+199C>T Single submitter ⚠
- c.541+205C>T Single submitter ⚠
- c.541+232C>T Single submitter ⚠
- c.541+24G>T Single submitter ⚠
- c.541+255G>A Single submitter ⚠
- c.541+265A>G Single submitter ⚠
- c.541+294G>T Single submitter ⚠
- c.541+302G>T Single submitter ⚠
- c.541+306G>C Single submitter ⚠
- c.541+337T>C Single submitter ⚠
- c.541+358T>G Single submitter ⚠
- c.541+387G>A Single submitter ⚠
- c.541+407A>G Single submitter ⚠
- c.541+424A>G Single submitter ⚠
- c.541+430T>C Single submitter ⚠
- c.541+445A>C Single submitter ⚠
- c.541+445A>G Single submitter ⚠
- c.541+455G>C Single submitter ⚠
- c.541+474T>G Single submitter ⚠
- c.541+477C>A Single submitter ⚠
- c.541+477C>T Single submitter ⚠
- c.541+478C>T Single submitter ⚠
- c.541+495T>A Single submitter ⚠
- c.541+517C>A Single submitter ⚠
- c.541+52T>C Single submitter ⚠
- c.541+544C>T Single submitter ⚠
- c.541+570A>T Single submitter ⚠
- c.541+582T>C Single submitter ⚠
- c.541+624G>A Single submitter ⚠
- c.541+657G>A Single submitter ⚠
- c.541+676A>G Single submitter ⚠
- c.541+69G>A Single submitter ⚠
- c.541+69G>C Single submitter ⚠
- c.541+711C>T Single submitter ⚠
- c.541+73T>C Single submitter ⚠
- c.541+751C>T Single submitter ⚠
- c.541+766C>G Single submitter ⚠
- c.541+771G>A Single submitter ⚠
- c.541+774A>G Single submitter ⚠
- c.541+787A>G Single submitter ⚠
- c.541+81G>A Single submitter ⚠
- c.541+834G>C Single submitter ⚠
- c.541+844G>A Single submitter ⚠
- c.541+844G>C Single submitter ⚠
- c.541+865G>T Single submitter ⚠
- c.541+873T>C Single submitter ⚠
- c.541+914A>C Single submitter ⚠
- c.541+933G>A Single submitter ⚠
- c.541+94C>T Single submitter ⚠
- c.541+96G>C Single submitter ⚠
- p.Arg48Ser Single submitter ⚠
- p.Arg7Ile Single submitter ⚠
- p.Asn29Ser Single submitter ⚠
- p.Asp106His Single submitter ⚠
- p.Gly130Asp Single submitter ⚠
- p.Gly138Asp Single submitter ⚠
- p.Gly139Ser Single submitter ⚠
- p.Gly139Val Single submitter ⚠
- p.Gly20Arg Single submitter ⚠
- p.Leu8Arg Single submitter ⚠
- p.Lys148Asn Single submitter ⚠
- p.Lys94Glu Single submitter ⚠
- p.Met99Leu Single submitter ⚠
- p.Met99Val Single submitter ⚠
- p.Phe122Ser Single submitter ⚠
- p.Pro158Ser Single submitter ⚠
- p.Pro76Ser Single submitter ⚠
- p.Ser155Pro Single submitter ⚠
- p.Ser93Pro Single submitter ⚠
- p.Thr134Met Single submitter ⚠
- p.Thr75Ser Single submitter ⚠
- p.Tyr115Asn Single submitter ⚠
- p.Val168Ile Single submitter ⚠