CACYBP — 21 ClinVar variants
All ClinVar germline CACYBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
2 Benign · 19 Uncertain significance
Full CACYBP 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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CACYBP p.Arg208Gln Uncertain significance Single submitter
- CACYBP p.Ile152Thr Uncertain significance Single submitter
- CACYBP p.Leu120Pro Uncertain significance Single submitter
- CACYBP p.Lys178Glu Uncertain significance Single submitter
- CACYBP p.Pro187Ser Uncertain significance Single submitter
- CACYBP p.Ser137Cys Uncertain significance Single submitter
- CACYBP p.Thr101Pro Uncertain significance Single submitter
- CACYBP p.Tyr125His Uncertain significance Single submitter
- CACYBP p.Val13Leu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CACYBP p.Arg26Gly Uncertain significance Single submitter
- CACYBP p.Gln7His Uncertain significance Single submitter
- CACYBP p.Glu184Gly Uncertain significance Single submitter
- CACYBP p.Glu227Gly Uncertain significance Single submitter
- CACYBP p.Leu55Phe Uncertain significance Single submitter
- CACYBP p.Lys171Arg Uncertain significance Single submitter
- CACYBP p.Pro100Leu Uncertain significance Single submitter
- CACYBP p.Pro60Arg Uncertain significance Single submitter
- CACYBP p.Pro60Leu Uncertain significance Single submitter
- CACYBP p.Thr69Met Uncertain significance Single submitter
All CACYBP variants
Benign 2
- p.Thr109= Multiple submitters
- c.530+9A>G Single submitter
Uncertain significance 19
- p.Arg208Gln Single submitter ⚠
- p.Arg26Gly Single submitter ⚠
- p.Gln7His Single submitter ⚠
- p.Glu184Gly Single submitter ⚠
- p.Glu227Gly Single submitter ⚠
- p.Ile152Thr Single submitter ⚠
- p.Leu120Pro Single submitter ⚠
- p.Leu55Phe Single submitter ⚠
- p.Lys171Arg Single submitter ⚠
- p.Lys178Glu Single submitter ⚠
- p.Pro100Leu Single submitter ⚠
- p.Pro187Ser Single submitter ⚠
- p.Pro60Arg Single submitter ⚠
- p.Pro60Leu Single submitter ⚠
- p.Ser137Cys Single submitter ⚠
- p.Thr101Pro Single submitter ⚠
- p.Thr69Met Single submitter ⚠
- p.Tyr125His Single submitter ⚠
- p.Val13Leu Single submitter ⚠