PWWP2B — 128 ClinVar variants
All ClinVar germline PWWP2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →
10 Likely benign · 118 Uncertain significance
Full PWWP2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 113
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 106
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PWWP2B p.Ala111Thr Uncertain significance Single submitter
- PWWP2B p.Ala197Val Uncertain significance Single submitter
- PWWP2B p.Ala285Thr Uncertain significance Single submitter
- PWWP2B p.Ala308Val Uncertain significance Single submitter
- PWWP2B p.Ala324Thr Uncertain significance Single submitter
- PWWP2B p.Ala326Val Uncertain significance Single submitter
- PWWP2B p.Ala367Val Uncertain significance Single submitter
- PWWP2B p.Ala378Val Uncertain significance Single submitter
- PWWP2B p.Ala441Val Uncertain significance Single submitter
- PWWP2B p.Ala454Thr Uncertain significance Single submitter
- PWWP2B p.Ala461Pro Uncertain significance Single submitter
- PWWP2B p.Arg152Gln Uncertain significance Single submitter
- PWWP2B p.Arg154His Uncertain significance Single submitter
- PWWP2B p.Arg157Cys Uncertain significance Single submitter
- PWWP2B p.Arg163His Uncertain significance Single submitter
- PWWP2B p.Arg170His Uncertain significance Single submitter
- PWWP2B p.Arg172Trp Uncertain significance Single submitter
- PWWP2B p.Arg201His Uncertain significance Single submitter
- PWWP2B p.Arg213His Uncertain significance Single submitter
- PWWP2B p.Arg237Cys Uncertain significance Single submitter
- PWWP2B p.Arg237His Uncertain significance Single submitter
- PWWP2B p.Arg281His Uncertain significance Single submitter
- PWWP2B p.Arg299Gly Uncertain significance Single submitter
- PWWP2B p.Arg302Gln Uncertain significance Single submitter
- PWWP2B p.Arg304Gln Uncertain significance Single submitter
- PWWP2B p.Arg334Cys Uncertain significance Single submitter
- PWWP2B p.Arg334Pro Uncertain significance Single submitter
- PWWP2B p.Arg339Cys Uncertain significance Single submitter
- PWWP2B p.Arg339Leu Uncertain significance Single submitter
- PWWP2B p.Arg339Ser Uncertain significance Single submitter
- PWWP2B p.Arg362Trp Uncertain significance Single submitter
- PWWP2B p.Arg459Gly Uncertain significance Single submitter
- PWWP2B p.Arg459Ser Uncertain significance Single submitter
- PWWP2B p.Arg462Cys Uncertain significance Single submitter
- PWWP2B p.Arg462His Uncertain significance Single submitter
- PWWP2B p.Arg68Gln Uncertain significance Single submitter
- PWWP2B p.Asn358Asp Uncertain significance Single submitter
- PWWP2B p.Asp293Val Uncertain significance Single submitter
- PWWP2B p.Asp298Asn Uncertain significance Single submitter
- PWWP2B p.Asp327Asn Uncertain significance Single submitter
- PWWP2B p.Asp389Asn Uncertain significance Single submitter
- PWWP2B p.Asp58Asn Uncertain significance Single submitter
- PWWP2B p.Asp74Asn Uncertain significance Single submitter
- PWWP2B p.Cys394Arg Uncertain significance Single submitter
- PWWP2B p.Gln175Arg Uncertain significance Single submitter
- PWWP2B p.Gln79Arg Uncertain significance Single submitter
- PWWP2B p.Glu122Gly Uncertain significance Single submitter
- PWWP2B p.Glu217Gln Uncertain significance Single submitter
- PWWP2B p.Glu219Lys Uncertain significance Single submitter
- PWWP2B p.Glu295Lys Uncertain significance Single submitter
- PWWP2B p.Glu300Gln Uncertain significance Single submitter
- PWWP2B p.Glu352Lys Uncertain significance Single submitter
- PWWP2B p.Glu402Lys Uncertain significance Single submitter
- PWWP2B p.Glu437Asp Uncertain significance Single submitter
- PWWP2B p.Glu71Lys Uncertain significance Single submitter
- PWWP2B p.Gly290Ser Uncertain significance Single submitter
- PWWP2B p.Gly359Arg Uncertain significance Single submitter
- PWWP2B p.Gly375Cys Uncertain significance Single submitter
- PWWP2B p.Gly376Arg Uncertain significance Single submitter
- PWWP2B p.Gly397Ser Uncertain significance Single submitter
- PWWP2B p.Gly435Asp Uncertain significance Single submitter
- PWWP2B p.Gly451Ser Uncertain significance Single submitter
- PWWP2B p.Gly81Arg Uncertain significance Single submitter
- PWWP2B p.His450Gln Uncertain significance Single submitter
- PWWP2B p.His473Gln Uncertain significance Single submitter
- PWWP2B p.Ile313Val Uncertain significance Single submitter
- PWWP2B p.Ile481Phe Uncertain significance Single submitter
- PWWP2B p.Leu105Phe Uncertain significance Single submitter
- PWWP2B p.Leu472Pro Uncertain significance Single submitter
- PWWP2B p.Lys392Asn Uncertain significance Single submitter
- PWWP2B p.Pro103Leu Uncertain significance Single submitter
- PWWP2B p.Pro116Leu Uncertain significance Single submitter
- PWWP2B p.Pro161Ala Uncertain significance Single submitter
- PWWP2B p.Pro161Leu Uncertain significance Single submitter
- PWWP2B p.Pro188Arg Uncertain significance Single submitter
- PWWP2B p.Pro188Leu Uncertain significance Single submitter
- PWWP2B p.Pro243Leu Uncertain significance Single submitter
- PWWP2B p.Pro294Ser Uncertain significance Single submitter
- PWWP2B p.Pro323Leu Uncertain significance Single submitter
- PWWP2B p.Pro347Leu Uncertain significance Single submitter
- PWWP2B p.Pro366Leu Uncertain significance Single submitter
- PWWP2B p.Pro411Ala Uncertain significance Single submitter
- PWWP2B p.Pro440Leu Uncertain significance Single submitter
- PWWP2B p.Pro455Ser Uncertain significance Single submitter
- PWWP2B p.Pro466Leu Uncertain significance Single submitter
- PWWP2B p.Pro55Leu Uncertain significance Single submitter
- PWWP2B p.Pro86Arg Uncertain significance Single submitter
- PWWP2B p.Pro86Leu Uncertain significance Single submitter
- PWWP2B p.Pro86Thr Uncertain significance Single submitter
- PWWP2B p.Pro87Leu Uncertain significance Single submitter
- PWWP2B p.Ser306Phe Uncertain significance Single submitter
- PWWP2B p.Ser310Leu Uncertain significance Single submitter
- PWWP2B p.Ser385Leu Uncertain significance Single submitter
- PWWP2B p.Ser424Gly Uncertain significance Single submitter
- PWWP2B p.Ser436Leu Uncertain significance Single submitter
- PWWP2B p.Ser43Cys Uncertain significance Single submitter
- PWWP2B p.Ser447Leu Uncertain significance Single submitter
- PWWP2B p.Ser447Trp Uncertain significance Single submitter
- PWWP2B p.Ser478Leu Uncertain significance Single submitter
- PWWP2B p.Ser529Leu Uncertain significance Single submitter
- PWWP2B p.Thr151Met Uncertain significance Single submitter
- PWWP2B p.Thr439Lys Uncertain significance Single submitter
- PWWP2B p.Thr443Met Uncertain significance Single submitter
- PWWP2B p.Thr464Met Uncertain significance Single submitter
- PWWP2B p.Val322Leu Uncertain significance Single submitter
- PWWP2B p.Val408Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- PWWP2B p.Arg133Gln Uncertain significance Single submitter
- PWWP2B p.Arg133Gly Uncertain significance Single submitter
- PWWP2B p.Arg146Lys Uncertain significance Single submitter
- PWWP2B p.Arg236Trp Uncertain significance Single submitter
- PWWP2B p.Arg334His Uncertain significance Single submitter
- PWWP2B p.Gln175His Uncertain significance Single submitter
- PWWP2B p.Pro331Arg Uncertain significance Single submitter
All PWWP2B variants
Likely benign 10
- p.Ala200Pro Single submitter
- p.Arg281Cys Single submitter
- p.Arg524Gln Single submitter
- p.Arg89His Single submitter
- p.Gly435Ser Single submitter
- p.Gly514Ser Single submitter
- p.Leu361Pro Single submitter
- p.Pro286Leu Single submitter
- p.Thr224Met Single submitter
- p.Gln246Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 118
- p.Ala111Thr Single submitter ⚠
- p.Ala197Val Single submitter ⚠
- p.Ala285Thr Single submitter ⚠
- p.Ala308Val Single submitter ⚠
- p.Ala324Thr Single submitter ⚠
- p.Ala326Val Single submitter ⚠
- p.Ala367Val Single submitter ⚠
- p.Ala378Val Single submitter ⚠
- p.Ala441Val Single submitter ⚠
- p.Ala454Thr Single submitter ⚠
- p.Ala461Pro Single submitter ⚠
- p.Arg133Gln Single submitter ⚠
- p.Arg133Gly Single submitter ⚠
- p.Arg146Lys Single submitter ⚠
- p.Arg150His Single submitter
- p.Arg152Gln Single submitter ⚠
- p.Arg154His Single submitter ⚠
- p.Arg157Cys Single submitter ⚠
- p.Arg163His Single submitter ⚠
- p.Arg170His Single submitter ⚠
- p.Arg172Trp Single submitter ⚠
- p.Arg201His Single submitter ⚠
- p.Arg213His Single submitter ⚠
- p.Arg236Trp Single submitter ⚠
- p.Arg237Cys Single submitter ⚠
- p.Arg237His Single submitter ⚠
- p.Arg281His Single submitter ⚠
- p.Arg299Gly Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Arg304Gln Single submitter ⚠
- p.Arg334Cys Single submitter ⚠
- p.Arg334His Single submitter ⚠
- p.Arg334Leu Single submitter
- p.Arg334Pro Single submitter ⚠
- p.Arg339Cys Single submitter ⚠
- p.Arg339Leu Single submitter ⚠
- p.Arg339Ser Single submitter ⚠
- p.Arg362Trp Single submitter ⚠
- p.Arg459Gly Single submitter ⚠
- p.Arg459Ser Single submitter ⚠
- p.Arg462Cys Single submitter ⚠
- p.Arg462His Single submitter ⚠
- p.Arg557Cys Single submitter
- p.Arg564Gln Single submitter
- p.Arg68Gln Single submitter ⚠
- p.Asn358Asp Single submitter ⚠
- p.Asp293Val Single submitter ⚠
- p.Asp298Asn Single submitter ⚠
- p.Asp327Asn Single submitter ⚠
- p.Asp389Asn Single submitter ⚠
- p.Asp58Asn Single submitter ⚠
- p.Asp74Asn Single submitter ⚠
- p.Cys394Arg Single submitter ⚠
- p.Gln175Arg Single submitter ⚠
- p.Gln175His Single submitter ⚠
- p.Gln79Arg Single submitter ⚠
- p.Glu122Gly Single submitter ⚠
- p.Glu217Gln Single submitter ⚠
- p.Glu219Lys Single submitter ⚠
- p.Glu295Lys Single submitter ⚠
- p.Glu300Gln Single submitter ⚠
- p.Glu352Lys Single submitter ⚠
- p.Glu402Lys Single submitter ⚠
- p.Glu437Asp Single submitter ⚠
- p.Glu71Lys Single submitter ⚠
- p.Gly290Ser Single submitter ⚠
- p.Gly359Arg Single submitter ⚠
- p.Gly375Cys Single submitter ⚠
- p.Gly376Arg Single submitter ⚠
- p.Gly397Ser Single submitter ⚠
- p.Gly435Asp Single submitter ⚠
- p.Gly451Ser Single submitter ⚠
- p.Gly81Arg Single submitter ⚠
- p.His450Gln Single submitter ⚠
- p.His473Gln Single submitter ⚠
- p.Ile313Val Single submitter ⚠
- p.Ile481Phe Single submitter ⚠
- p.Leu105Phe Single submitter ⚠
- p.Leu472Pro Single submitter ⚠
- p.Lys392Asn Single submitter ⚠
- p.Pro103Leu Single submitter ⚠
- p.Pro116Leu Single submitter ⚠
- p.Pro161Ala Single submitter ⚠
- p.Pro161Leu Single submitter ⚠
- p.Pro188Arg Single submitter ⚠
- p.Pro188Leu Single submitter ⚠
- p.Pro243Leu Single submitter ⚠
- p.Pro294Ser Single submitter ⚠
- p.Pro323Leu Single submitter ⚠
- p.Pro331Arg Single submitter ⚠
- p.Pro347Leu Single submitter ⚠
- p.Pro366Leu Single submitter ⚠
- p.Pro411Ala Single submitter ⚠
- p.Pro440Leu Single submitter ⚠
- p.Pro455Ser Single submitter ⚠
- p.Pro466Leu Single submitter ⚠
- p.Pro55Leu Single submitter ⚠
- p.Pro86Arg Single submitter ⚠
- p.Pro86Leu Single submitter ⚠
- p.Pro86Thr Single submitter ⚠
- p.Pro87Leu Single submitter ⚠
- p.Ser306Phe Single submitter ⚠
- p.Ser310Leu Single submitter ⚠
- p.Ser385Leu Single submitter ⚠
- p.Ser424Gly Single submitter ⚠
- p.Ser436Leu Single submitter ⚠
- p.Ser43Cys Single submitter ⚠
- p.Ser447Leu Single submitter ⚠
- p.Ser447Trp Single submitter ⚠
- p.Ser478Leu Single submitter ⚠
- p.Ser529Leu Single submitter ⚠
- p.Thr151Met Single submitter ⚠
- p.Thr439Lys Single submitter ⚠
- p.Thr443Met Single submitter ⚠
- p.Thr464Met Single submitter ⚠
- p.Val322Leu Single submitter ⚠
- p.Val408Leu Single submitter ⚠
- p.Val490Met Single submitter