NPBWR1 — 55 ClinVar variants
All ClinVar germline NPBWR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
1 Benign · 3 Likely benign · 51 Uncertain significance
Full NPBWR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NPBWR1 p.Ala239Thr Uncertain significance Single submitter
- NPBWR1 p.Ala258Val Uncertain significance Single submitter
- NPBWR1 p.Ala298Asp Uncertain significance Single submitter
- NPBWR1 p.Ala30Thr Uncertain significance Single submitter
- NPBWR1 p.Ala312Ser Uncertain significance Single submitter
- NPBWR1 p.Ala327Thr Uncertain significance Single submitter
- NPBWR1 p.Arg100Gln Uncertain significance Single submitter
- NPBWR1 p.Arg146Gln Uncertain significance Single submitter
- NPBWR1 p.Arg146Gly Uncertain significance Single submitter
- NPBWR1 p.Arg156Cys Uncertain significance Single submitter
- NPBWR1 p.Arg316Gly Uncertain significance Single submitter
- NPBWR1 p.Arg325Gly Uncertain significance Single submitter
- NPBWR1 p.Arg67His Uncertain significance Single submitter
- NPBWR1 p.Asn73Lys Uncertain significance Single submitter
- NPBWR1 p.Gln281Arg Uncertain significance Single submitter
- NPBWR1 p.Glu182Lys Uncertain significance Single submitter
- NPBWR1 p.Gly105Arg Uncertain significance Single submitter
- NPBWR1 p.Ile47Phe Uncertain significance Single submitter
- NPBWR1 p.Leu139Val Uncertain significance Single submitter
- NPBWR1 p.Leu205Phe Uncertain significance Single submitter
- NPBWR1 p.Leu21Val Uncertain significance Single submitter
- NPBWR1 p.Leu52Pro Uncertain significance Single submitter
- NPBWR1 p.Leu99Met Uncertain significance Single submitter
- NPBWR1 p.Met108Leu Uncertain significance Single submitter
- NPBWR1 p.Phe75Val Uncertain significance Single submitter
- NPBWR1 p.Pro19Leu Uncertain significance Single submitter
- NPBWR1 p.Pro41Leu Uncertain significance Single submitter
- NPBWR1 p.Ser122Phe Uncertain significance Single submitter
- NPBWR1 p.Ser123Arg Uncertain significance Single submitter
- NPBWR1 p.Ser159Arg Uncertain significance Single submitter
- NPBWR1 p.Thr265Ala Uncertain significance Single submitter
- NPBWR1 p.Tyr44His Uncertain significance Single submitter
- NPBWR1 p.Val169Leu Uncertain significance Single submitter
- NPBWR1 p.Val175Ala Uncertain significance Single submitter
- NPBWR1 p.Val189Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- NPBWR1 p.Arg201Cys Uncertain significance Single submitter
- NPBWR1 p.Cys324Tyr Uncertain significance Single submitter
- NPBWR1 p.Gly211Val Uncertain significance Single submitter
- NPBWR1 p.Gly51Ser Uncertain significance Single submitter
- NPBWR1 p.Met68Thr Uncertain significance Single submitter
- NPBWR1 p.Phe305Leu Uncertain significance Single submitter
- NPBWR1 p.Pro33Ser Uncertain significance Single submitter
- NPBWR1 p.Ser15Leu Uncertain significance Single submitter
- NPBWR1 p.Ser270Arg Uncertain significance Single submitter
- NPBWR1 p.Thr207Lys Uncertain significance Single submitter
- NPBWR1 p.Tyr223Phe Uncertain significance Single submitter
All NPBWR1 variants
Benign 1
- p.Arg319Cys Multiple submitters
Likely benign 3
- p.Ala30Pro Single submitter
- p.Asp181Glu Single submitter
- p.Ile288Val Single submitter
Uncertain significance 51
- p.Ala239Thr Single submitter ⚠
- p.Ala258Val Single submitter ⚠
- p.Ala298Asp Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala312Ser Single submitter ⚠
- p.Ala327Thr Single submitter ⚠
- p.Arg100Gln Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg146Gly Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg201Cys Single submitter ⚠
- p.Arg315Cys Single submitter
- p.Arg316Gly Single submitter ⚠
- p.Arg325Gly Single submitter ⚠
- p.Arg67His Single submitter ⚠
- p.Asn73Lys Single submitter ⚠
- p.Cys324Tyr Single submitter ⚠
- p.Gln281Arg Single submitter ⚠
- p.Glu182Lys Single submitter ⚠
- p.Gly105Arg Single submitter ⚠
- p.Gly211Val Single submitter ⚠
- p.Gly51Ser Single submitter ⚠
- p.Ile47Phe Single submitter ⚠
- p.Leu139Val Single submitter ⚠
- p.Leu205Phe Single submitter ⚠
- p.Leu21Val Single submitter ⚠
- p.Leu52Pro Single submitter ⚠
- p.Leu99Met Single submitter ⚠
- p.Met108Leu Single submitter ⚠
- p.Met68Thr Single submitter ⚠
- p.Phe305Leu Single submitter ⚠
- p.Phe75Tyr Single submitter
- p.Phe75Val Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro33Ser Single submitter ⚠
- p.Pro41Leu Single submitter ⚠
- p.Ser122Phe Single submitter ⚠
- p.Ser123Arg Single submitter ⚠
- p.Ser159Arg Single submitter ⚠
- p.Ser15Leu Single submitter ⚠
- p.Ser270Arg Single submitter ⚠
- p.Thr207Lys Single submitter ⚠
- p.Thr207Met Single submitter
- p.Thr250Asn Single submitter
- p.Thr265Ala Single submitter ⚠
- p.Tyr125Cys Single submitter
- p.Tyr223Phe Single submitter ⚠
- p.Tyr44His Single submitter ⚠
- p.Val169Leu Single submitter ⚠
- p.Val175Ala Single submitter ⚠
- p.Val189Met Single submitter ⚠