BTLA — 20 ClinVar variants
All ClinVar germline BTLA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
1 Likely benign · 19 Uncertain significance
Full BTLA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTLA p.Arg114Leu Uncertain significance Single submitter
- BTLA p.Asp229Val Uncertain significance Single submitter
- BTLA p.Gln207Pro Uncertain significance Single submitter
- BTLA p.Glu92Asp Uncertain significance Single submitter
- BTLA p.Gly193Glu Uncertain significance Single submitter
- BTLA p.Gly9Val Uncertain significance Single submitter
- BTLA p.His202Tyr Uncertain significance Single submitter
- BTLA p.His29Tyr Uncertain significance Single submitter
- BTLA p.Ile265Thr Uncertain significance Single submitter
- BTLA p.Leu203Pro Uncertain significance Single submitter
- BTLA p.Pro279Ser Uncertain significance Single submitter
- BTLA p.Ser240Thr Uncertain significance Single submitter
- BTLA p.Val218Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- BTLA p.Asn261Ser Uncertain significance Single submitter
- BTLA p.Asn268Tyr Uncertain significance Single submitter
- BTLA p.Asn75Ile Uncertain significance Single submitter
- BTLA p.Pro53Leu Uncertain significance Single submitter
- BTLA p.Ser259Cys Uncertain significance Single submitter
- BTLA p.Thr78Ile Uncertain significance Single submitter
All BTLA variants
Likely benign 1
- p.Leu232Phe Single submitter
Uncertain significance 19
- p.Arg114Leu Single submitter ⚠
- p.Asn261Ser Single submitter ⚠
- p.Asn268Tyr Single submitter ⚠
- p.Asn75Ile Single submitter ⚠
- p.Asp229Val Single submitter ⚠
- p.Gln207Pro Single submitter ⚠
- p.Glu92Asp Single submitter ⚠
- p.Gly193Glu Single submitter ⚠
- p.Gly9Val Single submitter ⚠
- p.His202Tyr Single submitter ⚠
- p.His29Tyr Single submitter ⚠
- p.Ile265Thr Single submitter ⚠
- p.Leu203Pro Single submitter ⚠
- p.Pro279Ser Single submitter ⚠
- p.Pro53Leu Single submitter ⚠
- p.Ser240Thr Single submitter ⚠
- p.Ser259Cys Single submitter ⚠
- p.Thr78Ile Single submitter ⚠
- p.Val218Ala Single submitter ⚠