BLID — 21 ClinVar variants
All ClinVar germline BLID variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
21 Uncertain significance
Full BLID gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BLID p.Ala41Ser Uncertain significance Single submitter
- BLID p.Ala49Val Uncertain significance Single submitter
- BLID p.Arg31Gln Uncertain significance Single submitter
- BLID p.Arg44His Uncertain significance Single submitter
- BLID p.Asn54Lys Uncertain significance Single submitter
- BLID p.Asn54Ser Uncertain significance Single submitter
- BLID p.Cys101Arg Uncertain significance Single submitter
- BLID p.His13Tyr Uncertain significance Single submitter
- BLID p.His84Arg Uncertain significance Single submitter
- BLID p.His84Pro Uncertain significance Single submitter
- BLID p.Ile12Met Uncertain significance Single submitter
- BLID p.Ile37Leu Uncertain significance Single submitter
- BLID p.Ile95Val Uncertain significance Single submitter
- BLID p.Met77Arg Uncertain significance Single submitter
- BLID p.Pro57Arg Uncertain significance Single submitter
- BLID p.Thr26Ile Uncertain significance Single submitter
- BLID p.Thr26Ser Uncertain significance Single submitter
- BLID p.Tyr38Cys Uncertain significance Single submitter
- BLID p.Tyr91Phe Uncertain significance Single submitter
- BLID p.Val64Glu Uncertain significance Single submitter
- BLID p.Val97Gly Uncertain significance Single submitter
All BLID variants
Uncertain significance 21
- p.Ala41Ser Single submitter ⚠
- p.Ala49Val Single submitter ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg44His Single submitter ⚠
- p.Asn54Lys Single submitter ⚠
- p.Asn54Ser Single submitter ⚠
- p.Cys101Arg Single submitter ⚠
- p.His13Tyr Single submitter ⚠
- p.His84Arg Single submitter ⚠
- p.His84Pro Single submitter ⚠
- p.Ile12Met Single submitter ⚠
- p.Ile37Leu Single submitter ⚠
- p.Ile95Val Single submitter ⚠
- p.Met77Arg Single submitter ⚠
- p.Pro57Arg Single submitter ⚠
- p.Thr26Ile Single submitter ⚠
- p.Thr26Ser Single submitter ⚠
- p.Tyr38Cys Single submitter ⚠
- p.Tyr91Phe Single submitter ⚠
- p.Val64Glu Single submitter ⚠
- p.Val97Gly Single submitter ⚠