YWHAH — 14 ClinVar variants
All ClinVar germline YWHAH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
14 Uncertain significance
Full YWHAH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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.
- YWHAH p.Arg172Gln Uncertain significance Single submitter
- YWHAH p.Arg227Gln Uncertain significance Single submitter
- YWHAH p.Arg4Gln Uncertain significance Single submitter
- YWHAH p.Asp203Ala Uncertain significance Single submitter
- YWHAH p.Gln164Lys Uncertain significance Single submitter
- YWHAH p.Glu148Lys Uncertain significance Single submitter
- YWHAH p.Glu213Lys Uncertain significance Single submitter
- YWHAH p.Lys142Glu Uncertain significance Single submitter
- YWHAH p.Thr234Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All YWHAH variants
Uncertain significance 14
- p.Arg172Gln Single submitter ⚠
- p.Arg227Gln Single submitter ⚠
- p.Arg4Gln Single submitter ⚠
- p.Arg86Gln Single submitter ⚠
- p.Asp203Ala Single submitter ⚠
- p.Gln164Lys Single submitter ⚠
- p.Glu118Asp Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Glu213Lys Single submitter ⚠
- p.Ile171Val Single submitter ⚠
- p.Lys142Glu Single submitter ⚠
- p.Thr234Met Single submitter ⚠
- p.Thr70Ile Single submitter ⚠
- p.Tyr131Cys Single submitter ⚠