YWHAZ — 59 ClinVar variants
All ClinVar germline YWHAZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
5 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 7 Benign · 2 Benign/Likely benign · 24 Likely benign · 17 Uncertain significance
Full YWHAZ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
YWHAZ p.Ser230Trp
Conflicting
Single submitter
Noonan-like disorder
Predictors lean, ClinVar uncertain 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
YWHAZ p.Arg222Thr
Uncertain significance
Single submitter
Popov-Chang syndrome
- YWHAZ p.Asn108Ser Uncertain significance Single submitter
- YWHAZ p.Cys25Ser Uncertain significance Single submitter
- YWHAZ p.Glu131Lys Uncertain significance Single submitter
- YWHAZ p.Glu180Lys Uncertain significance Single submitter
- YWHAZ p.Glu39Lys Uncertain significance Single submitter
- YWHAZ p.Gly123Glu Uncertain significance Single submitter
-
YWHAZ p.Gly53Arg
Uncertain significance
Single submitter
Popov-Chang syndrome
- YWHAZ p.Leu172Val Uncertain significance Single submitter
- YWHAZ p.Lys103Asn Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All YWHAZ variants
Pathogenic 5
- p.Arg127Cys Single submitter
- p.Glu14Ter No assertion criteria Popov-Chang syndrome
- p.Lys49Asn No assertion criteria Popov-Chang syndrome
- p.Ser145Leu No assertion criteria Popov-Chang syndrome
- p.Ser230fs No assertion criteria Popov-Chang syndrome
Likely pathogenic 3
- p.Arg127His Single submitter Popov-Chang syndrome
- p.Glu186delinsAspLeu Single submitter Cardiofaciocutaneous spectrum disorder
- p.Val62fs Single submitter Popov-Chang syndrome
Conflicting classifications of pathogenicity 1
- p.Ser230Trp Single submitter Noonan-like disorder ⚠
Benign 7
- c.583-5C>T Multiple submitters
- p.Glu87= Multiple submitters
- c.679-11T>C Single submitter
- p.Asp2= Single submitter
- p.Asp235= Single submitter
- p.Gln147Lys Single submitter
- p.Ser190= Single submitter
Benign/Likely benign 2
- c.582+20C>A Multiple submitters
- c.678+18T>G Multiple submitters
Likely benign 24
- p.Leu129= Multiple submitters
- c.294+11A>G Single submitter
- c.294+14C>T Single submitter
- c.294+537_294+538insAA Single submitter
- c.294+537A>G Single submitter
- c.294+7A>C Single submitter
- c.295-14C>T Single submitter
- c.295-19T>C Single submitter
- c.295-20C>G Single submitter
- c.418+19T>G Single submitter
- c.419-15G>T Single submitter
- c.582+20del Single submitter
- c.678+13C>T Single submitter
- c.679-14C>T Single submitter
- c.-9C>T Single submitter
- p.Ala13= Single submitter
- p.Ala195= Single submitter
- p.Ala54= Single submitter
- p.Arg41= Single submitter
- p.Gly123= Single submitter
- p.Lys85= Single submitter
- p.Pro165= Single submitter
- p.Thr205= Single submitter
- p.Thr88= Single submitter
Uncertain significance 17
- c.678+3A>G Single submitter
- p.Ala54delinsGlyIlePheSerGlnLeuLeuIleLysMetLeuTer Single submitter YWHAZ-related disorder
- p.Arg222Thr Single submitter Popov-Chang syndrome ⚠
- p.Asn108Ser Single submitter ⚠
- p.Asp204_Ser207delinsGluGluPheIleGlnArgGlnHisAlaLeuTyr Single submitter
- p.Cys25Ser Single submitter ⚠
- p.Gln77Lys Single submitter ⚠
- p.Glu131Lys Single submitter ⚠
- p.Glu180Lys Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Gly123Glu Single submitter ⚠
- p.Gly53Arg Single submitter Popov-Chang syndrome ⚠
- p.Leu172Val Single submitter ⚠
- p.Lys103Asn Single submitter ⚠
- p.Met218fs Single submitter
- p.Phe177fs Single submitter
- p.Ser63Ter Single submitter