GZMB — 50 ClinVar variants
All ClinVar germline GZMB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
4 Benign · 5 Likely benign · 41 Uncertain significance
Full GZMB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GZMB p.Tyr180Cys Uncertain significance Multiple submitters
- GZMB p.Ala134Ser Uncertain significance Single submitter
- GZMB p.Arg128Lys Uncertain significance Single submitter
- GZMB p.Arg178Cys Uncertain significance Single submitter
- GZMB p.Arg221Gln Uncertain significance Single submitter
- GZMB p.Arg246Cys Uncertain significance Single submitter
- GZMB p.Arg48Lys Uncertain significance Single submitter
- GZMB p.Asp182Glu Uncertain significance Single submitter
- GZMB p.Asp42Tyr Uncertain significance Single submitter
- GZMB p.Gln161Arg Uncertain significance Single submitter
- GZMB p.Gln168Leu Uncertain significance Single submitter
- GZMB p.Gly146Ser Uncertain significance Single submitter
- GZMB p.Gly24Arg Uncertain significance Single submitter
- GZMB p.Gly51Ser Uncertain significance Single submitter
- GZMB p.Ile79Val Uncertain significance Single submitter
- GZMB p.Met165Val Uncertain significance Single submitter
- GZMB p.Met244Leu Uncertain significance Single submitter
- GZMB p.Phe52Leu Uncertain significance Single submitter
- GZMB p.Pro138Ser Uncertain significance Single submitter
- GZMB p.Pro84Ala Uncertain significance Single submitter
- GZMB p.Ser143Arg Uncertain significance Single submitter
- GZMB p.Thr150Met Uncertain significance Single submitter
- GZMB p.Thr197Asn Uncertain significance Single submitter
- GZMB p.Tyr247Cys Uncertain significance Single submitter
- GZMB p.Val59Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- GZMB p.Arg120Gly Uncertain significance Single submitter
- GZMB p.Gln168Lys Uncertain significance Single submitter
- GZMB p.Gln86Arg Uncertain significance Single submitter
- GZMB p.Gly220Val Uncertain significance Single submitter
- GZMB p.Leu153Pro Uncertain significance Single submitter
- GZMB p.Met244Lys Uncertain significance Single submitter
- GZMB p.Met244Thr Uncertain significance Single submitter
- GZMB p.Ser235Ile Uncertain significance Single submitter
- GZMB p.Val72Ile Uncertain significance Single submitter
All GZMB variants
Benign 4
- p.Lys80= Multiple submitters
- p.Pro94Ala Multiple submitters
- p.Tyr219= Multiple submitters
- c.55+10C>G Single submitter
Likely benign 5
- p.Asn107= Multiple submitters
- p.Arg171Gln Single submitter
- p.Asn210Lys Single submitter
- p.Leu160= Single submitter
- p.Pro84= Single submitter
Uncertain significance 41
- p.Tyr180Cys Multiple submitters ⚠
- p.Ala134Ser Single submitter ⚠
- p.Arg120Gly Single submitter ⚠
- p.Arg128Lys Single submitter ⚠
- p.Arg178Cys Single submitter ⚠
- p.Arg221Gln Single submitter ⚠
- p.Arg246Cys Single submitter ⚠
- p.Arg32Cys Single submitter
- p.Arg48Lys Single submitter ⚠
- p.Asp182Glu Single submitter ⚠
- p.Asp42Tyr Single submitter ⚠
- p.Gln161Arg Single submitter ⚠
- p.Gln168Leu Single submitter ⚠
- p.Gln168Lys Single submitter ⚠
- p.Gln86Arg Single submitter ⚠
- p.Glu26Asp Single submitter
- p.Gly146Ser Single submitter ⚠
- p.Gly220Val Single submitter ⚠
- p.Gly23Ala Single submitter
- p.Gly23Arg Single submitter
- p.Gly24Arg Single submitter ⚠
- p.Gly51Ser Single submitter ⚠
- p.Ile79Val Single submitter ⚠
- p.Leu153Pro Single submitter ⚠
- p.Met165Val Single submitter ⚠
- p.Met244Leu Single submitter ⚠
- p.Met244Lys Single submitter ⚠
- p.Met244Thr Single submitter ⚠
- p.Phe52Leu Single submitter ⚠
- p.Pro138Ser Single submitter ⚠
- p.Pro226Arg Single submitter
- p.Pro84Ala Single submitter ⚠
- p.Ser143Arg Single submitter ⚠
- p.Ser235Ile Single submitter ⚠
- p.Thr150Met Single submitter ⚠
- p.Thr197Asn Single submitter ⚠
- p.Tyr247Cys Single submitter ⚠
- p.Val167Met Single submitter
- p.Val189Met Single submitter
- p.Val59Met Single submitter ⚠
- p.Val72Ile Single submitter ⚠