BPI — 86 ClinVar variants
All ClinVar germline BPI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
1 Conflicting · 11 Benign · 8 Likely benign · 66 Uncertain significance
Full BPI gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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.
- BPI c.-6G>A Uncertain significance Single submitter
- BPI p.Ala241Val Uncertain significance Single submitter
- BPI p.Ala267Ser Uncertain significance Single submitter
- BPI p.Ala478Thr Uncertain significance Single submitter
- BPI p.Ala51Thr Uncertain significance Single submitter
- BPI p.Arg319Gln Uncertain significance Single submitter
- BPI p.Asn100Ser Uncertain significance Single submitter
- BPI p.Asn109Lys Uncertain significance Single submitter
- BPI p.Asp132Asn Uncertain significance Single submitter
- BPI p.Asp143Asn Uncertain significance Single submitter
- BPI p.Asp278Glu Uncertain significance Single submitter
- BPI p.Gln449Arg Uncertain significance Single submitter
- BPI p.Gly129Ser Uncertain significance Single submitter
- BPI p.Gly21Ser Uncertain significance Single submitter
- BPI p.Gly253Glu Uncertain significance Single submitter
- BPI p.His344Arg Uncertain significance Single submitter
- BPI p.His388Arg Uncertain significance Single submitter
- BPI p.His417Tyr Uncertain significance Single submitter
- BPI p.Lys154Met Uncertain significance Single submitter
- BPI p.Lys334Arg Uncertain significance Single submitter
- BPI p.Met271Thr Uncertain significance Single submitter
- BPI p.Met280Ile Uncertain significance Single submitter
- BPI p.Met280Val Uncertain significance Single submitter
- BPI p.Phe383Val Uncertain significance Single submitter
- BPI p.Ser208Phe Uncertain significance Single submitter
- BPI p.Ser257Asn Uncertain significance Single submitter
- BPI p.Val436Leu Uncertain significance Single submitter
- BPI p.Val465Ile Uncertain significance Single submitter
- BPI p.Val480Ile Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- BPI p.Ala333Thr Likely benign Multiple submitters
- BPI p.Arg86Cys Benign Multiple submitters
- BPI p.Ala110Thr Uncertain significance Single submitter
- BPI p.Ala230Pro Uncertain significance Single submitter
- BPI p.Ala26Val Uncertain significance Single submitter
- BPI p.Ala2Asp Uncertain significance Single submitter
- BPI p.Ala300Ser Uncertain significance Single submitter
- BPI p.Ala372Val Uncertain significance Single submitter
- BPI p.Ala380Pro Uncertain significance Single submitter
- BPI p.Arg194Gln Uncertain significance Single submitter
- BPI p.Asp132Ala Uncertain significance Single submitter
- BPI p.Asp278Tyr Uncertain significance Single submitter
- BPI p.Asp309Glu Uncertain significance Single submitter
- BPI p.Gln38Arg Uncertain significance Single submitter
- BPI p.Gln94Glu Uncertain significance Single submitter
- BPI p.Gly137Ala Uncertain significance Single submitter
- BPI p.Gly359Ser Uncertain significance Single submitter
- BPI p.Ile182Thr Uncertain significance Single submitter
- BPI p.Lys323Arg Uncertain significance Single submitter
- BPI p.Phe131Val Uncertain significance Single submitter
- BPI p.Phe318Leu Uncertain significance Single submitter
- BPI p.Phe336Leu Uncertain significance Single submitter
- BPI p.Phe423Leu Uncertain significance Single submitter
- BPI p.Phe473Ile Uncertain significance Single submitter
- BPI p.Pro221Thr Uncertain significance Single submitter
- BPI p.Pro264Ser Uncertain significance Single submitter
- BPI p.Pro330Arg Uncertain significance Single submitter
- BPI p.Pro364Leu Uncertain significance Single submitter
- BPI p.Pro375Ser Uncertain significance Single submitter
- BPI p.Ser174Leu Uncertain significance Single submitter
- BPI p.Ser257Gly Uncertain significance Single submitter
- BPI p.Thr22Asn Uncertain significance Single submitter
- BPI p.Thr321Lys Uncertain significance Single submitter
- BPI p.Tyr216Cys Uncertain significance Single submitter
- BPI p.Tyr43Cys Uncertain significance Single submitter
- BPI p.Tyr43His Uncertain significance Single submitter
- BPI p.Val18Ile Uncertain significance Single submitter
- BPI p.Val237Met Uncertain significance Single submitter
All BPI variants
Conflicting classifications of pathogenicity 1
- p.Lys447Glu Single submitter ⚠
Benign 11
- c.664+7G>T Multiple submitters
- p.Ala12Val Multiple submitters
- p.Ala192Val Multiple submitters
- p.Ala8Thr Multiple submitters
- p.Ala8Val Multiple submitters
- p.Arg86Cys Multiple submitters ⚠
- p.Glu136Gln Multiple submitters
- p.Glu212Lys Multiple submitters
- p.Leu17= Multiple submitters
- p.Ser115= Multiple submitters
- p.Val178= Multiple submitters
Likely benign 8
- p.Ala333Thr Multiple submitters ⚠
- p.Ala23Thr Single submitter
- p.Ala275Thr Single submitter
- p.Arg308Thr Single submitter
- p.Glu203Lys Single submitter
- p.Pro150= Single submitter
- p.Thr151= Single submitter
- p.Thr358= Single submitter
Uncertain significance 66
- c.933+6G>A Single submitter
- c.-6G>A Single submitter ⚠
- p.Ala110Thr Single submitter ⚠
- p.Ala230Pro Single submitter ⚠
- p.Ala241Val Single submitter ⚠
- p.Ala267Ser Single submitter ⚠
- p.Ala26Val Single submitter ⚠
- p.Ala2Asp Single submitter ⚠
- p.Ala300Ser Single submitter ⚠
- p.Ala372Val Single submitter ⚠
- p.Ala380Pro Single submitter ⚠
- p.Ala478Thr Single submitter ⚠
- p.Ala51Thr Single submitter ⚠
- p.Arg194Gln Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Asn100Ser Single submitter ⚠
- p.Asn109Lys Single submitter ⚠
- p.Asp132Ala Single submitter ⚠
- p.Asp132Asn Single submitter ⚠
- p.Asp143Asn Single submitter ⚠
- p.Asp278Glu Single submitter ⚠
- p.Asp278Tyr Single submitter ⚠
- p.Asp309Glu Single submitter ⚠
- p.Gln38Arg Single submitter ⚠
- p.Gln449Arg Single submitter ⚠
- p.Gln94Glu Single submitter ⚠
- p.Gly129Ser Single submitter ⚠
- p.Gly137Ala Single submitter ⚠
- p.Gly21Ser Single submitter ⚠
- p.Gly253Glu Single submitter ⚠
- p.Gly359Ser Single submitter ⚠
- p.His344Arg Single submitter ⚠
- p.His388Arg Single submitter ⚠
- p.His417Tyr Single submitter ⚠
- p.Ile182Thr Single submitter ⚠
- p.Lys154Met Single submitter ⚠
- p.Lys323Arg Single submitter ⚠
- p.Lys334Arg Single submitter ⚠
- p.Met271Thr Single submitter ⚠
- p.Met280Ile Single submitter ⚠
- p.Met280Val Single submitter ⚠
- p.Phe131Val Single submitter ⚠
- p.Phe318Leu Single submitter ⚠
- p.Phe336Leu Single submitter ⚠
- p.Phe383Val Single submitter ⚠
- p.Phe423Leu Single submitter ⚠
- p.Phe473Ile Single submitter ⚠
- p.Pro221Thr Single submitter ⚠
- p.Pro264Ser Single submitter ⚠
- p.Pro330Arg Single submitter ⚠
- p.Pro364Leu Single submitter ⚠
- p.Pro375Ser Single submitter ⚠
- p.Ser174Leu Single submitter ⚠
- p.Ser208Phe Single submitter ⚠
- p.Ser257Asn Single submitter ⚠
- p.Ser257Gly Single submitter ⚠
- p.Thr22Asn Single submitter ⚠
- p.Thr321Lys Single submitter ⚠
- p.Tyr216Cys Single submitter ⚠
- p.Tyr43Cys Single submitter ⚠
- p.Tyr43His Single submitter ⚠
- p.Val18Ile Single submitter ⚠
- p.Val237Met Single submitter ⚠
- p.Val436Leu Single submitter ⚠
- p.Val465Ile Single submitter ⚠
- p.Val480Ile Single submitter ⚠