BZW2 — 40 ClinVar variants
All ClinVar germline BZW2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
1 Likely benign · 39 Uncertain significance
Full BZW2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BZW2 p.Ala128Thr Uncertain significance Single submitter
- BZW2 p.Ala166Thr Uncertain significance Single submitter
- BZW2 p.Ala184Thr Uncertain significance Single submitter
- BZW2 p.Ala304Thr Uncertain significance Single submitter
- BZW2 p.Ala377Glu Uncertain significance Single submitter
- BZW2 p.Arg62Cys Uncertain significance Single submitter
- BZW2 p.Arg84Cys Uncertain significance Single submitter
- BZW2 p.Asn223Ile Uncertain significance Single submitter
- BZW2 p.Asn95Ser Uncertain significance Single submitter
- BZW2 p.Asp244Glu Uncertain significance Single submitter
- BZW2 p.Asp287Gly Uncertain significance Single submitter
- BZW2 p.Gln250Lys Uncertain significance Single submitter
- BZW2 p.Gln263His Uncertain significance Single submitter
- BZW2 p.Gln268Arg Uncertain significance Single submitter
- BZW2 p.Glu145Asp Uncertain significance Single submitter
- BZW2 p.Glu261Asp Uncertain significance Single submitter
- BZW2 p.Glu403Val Uncertain significance Single submitter
- BZW2 p.Leu137Pro Uncertain significance Single submitter
- BZW2 p.Leu288Ile Uncertain significance Single submitter
- BZW2 p.Leu329Val Uncertain significance Single submitter
- BZW2 p.Lys127Arg Uncertain significance Single submitter
- BZW2 p.Lys320Arg Uncertain significance Single submitter
- BZW2 p.Met302Thr Uncertain significance Single submitter
- BZW2 p.Thr163Ile Uncertain significance Single submitter
- BZW2 p.Thr33Ile Uncertain significance Single submitter
- BZW2 p.Thr83Met Uncertain significance Single submitter
- BZW2 p.Thr91Ala Uncertain significance Single submitter
- BZW2 p.Val178Ile Uncertain significance Single submitter
- BZW2 p.Val222Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- BZW2 p.Arg13Gln Uncertain significance Single submitter
- BZW2 p.Arg17Gln Uncertain significance Single submitter
- BZW2 p.Arg84Pro Uncertain significance Single submitter
- BZW2 p.Asp104Gly Uncertain significance Single submitter
- BZW2 p.Asp20Gly Uncertain significance Single submitter
- BZW2 p.Asp287Val Uncertain significance Single submitter
- BZW2 p.Leu68Phe Uncertain significance Single submitter
- BZW2 p.Val48Ala Uncertain significance Single submitter
All BZW2 variants
Likely benign 1
- p.Leu68= Single submitter
Uncertain significance 39
- p.Ala128Thr Single submitter ⚠
- p.Ala166Thr Single submitter ⚠
- p.Ala184Thr Single submitter ⚠
- p.Ala304Thr Single submitter ⚠
- p.Ala377Glu Single submitter ⚠
- p.Arg13Gln Single submitter ⚠
- p.Arg17Gln Single submitter ⚠
- p.Arg62Cys Single submitter ⚠
- p.Arg84Cys Single submitter ⚠
- p.Arg84Pro Single submitter ⚠
- p.Asn223Ile Single submitter ⚠
- p.Asn95Ser Single submitter ⚠
- p.Asp104Gly Single submitter ⚠
- p.Asp20Gly Single submitter ⚠
- p.Asp244Glu Single submitter ⚠
- p.Asp287Gly Single submitter ⚠
- p.Asp287Val Single submitter ⚠
- p.Gln250Lys Single submitter ⚠
- p.Gln263His Single submitter ⚠
- p.Gln268Arg Single submitter ⚠
- p.Glu145Asp Single submitter ⚠
- p.Glu261Asp Single submitter ⚠
- p.Glu403Val Single submitter ⚠
- p.Leu137Phe Single submitter
- p.Leu137Pro Single submitter ⚠
- p.Leu288Ile Single submitter ⚠
- p.Leu329Val Single submitter ⚠
- p.Leu59Val Single submitter
- p.Leu68Phe Single submitter ⚠
- p.Lys127Arg Single submitter ⚠
- p.Lys320Arg Single submitter ⚠
- p.Met302Thr Single submitter ⚠
- p.Thr163Ile Single submitter ⚠
- p.Thr33Ile Single submitter ⚠
- p.Thr83Met Single submitter ⚠
- p.Thr91Ala Single submitter ⚠
- p.Val178Ile Single submitter ⚠
- p.Val222Ile Single submitter ⚠
- p.Val48Ala Single submitter ⚠