HLA-B — 40 ClinVar variants
All ClinVar germline HLA-B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
1 Pathogenic · 8 Benign · 30 Likely benign · 1 Uncertain significance
Full HLA-B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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HLA-B p.Val320Ala
Uncertain significance
Single submitter
spondyloarthropathy, susceptibility to, 1
Predictors split 3
The independent predictors disagree with each other — read with care.
- HLA-B p.Leu133Phe Benign Single submitter
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HLA-B p.Asp54Gly
Likely benign
No assertion criteria
HLA-B-related disorder
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HLA-B p.Gly107Cys
Likely benign
No assertion criteria
HLA-B-related disorder
All HLA-B variants
Pathogenic 1
- p.Trp241Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Benign 8
- p.Glu69fs Single submitter
- p.Leu133Phe Single submitter ⚠
- p.Val327= Single submitter
- p.Ala93Thr No assertion criteria HLA-B-related disorder
- p.Arg180fs No assertion criteria HLA-B-related disorder
- p.Gln94fs No assertion criteria HLA-B-related disorder
- p.Ser121Arg No assertion criteria HLA-B-related disorder
- p.Tyr140Ser No assertion criteria HLA-B-related disorder
Likely benign 30
- p.His216= Multiple submitters
- p.Ala163= Single submitter
- p.Ala325= Single submitter
- p.Ala93= Single submitter
- p.Arg106= Single submitter
- p.Arg180= Single submitter
- p.Arg258= Single submitter
- p.Asn198= Single submitter
- p.Gln94= Single submitter
- p.Glu278= Single submitter
- p.Gly245= Single submitter
- p.His287= Single submitter
- p.Ile311= Single submitter
- p.Leu105= Single submitter
- p.Met331Val Single submitter
- p.Pro39= Single submitter
- p.Ser26= Single submitter
- p.Thr158= Single submitter
- p.Thr162= Single submitter
- p.Thr282= Single submitter
- p.Tyr123Phe Single submitter
- p.Tyr123Ser Single submitter
- p.Val285= Single submitter
- p.Val358= Single submitter
- p.Asn104fs No assertion criteria HLA-B-related disorder
- p.Asp54Gly No assertion criteria HLA-B-related disorder ⚠
- p.Gly107Cys No assertion criteria HLA-B-related disorder ⚠
- p.Gly107fs No assertion criteria HLA-B-related disorder
- p.Leu105fs No assertion criteria HLA-B-related disorder
- p.Tyr33His No assertion criteria HLA-B-related disorder
Uncertain significance 1
- p.Val320Ala Single submitter spondyloarthropathy, susceptibility to, 1 ⚠