BPIFB4 — 108 ClinVar variants
All ClinVar germline BPIFB4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
11 Likely benign · 97 Uncertain significance
Full BPIFB4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BPIFB4 p.Ala165Ser Uncertain significance Single submitter
- BPIFB4 p.Ala185Thr Uncertain significance Single submitter
- BPIFB4 p.Ala269Ser Uncertain significance Single submitter
- BPIFB4 p.Ala439Thr Uncertain significance Single submitter
- BPIFB4 p.Ala462Thr Uncertain significance Single submitter
- BPIFB4 p.Ala496Val Uncertain significance Single submitter
- BPIFB4 p.Ala4Gly Uncertain significance Single submitter
- BPIFB4 p.Ala4Val Uncertain significance Single submitter
- BPIFB4 p.Ala542Thr Uncertain significance Single submitter
- BPIFB4 p.Ala8Val Uncertain significance Single submitter
- BPIFB4 p.Ala97Ser Uncertain significance Single submitter
- BPIFB4 p.Ala9Val Uncertain significance Single submitter
- BPIFB4 p.Arg150Gln Uncertain significance Single submitter
- BPIFB4 p.Arg236Trp Uncertain significance Single submitter
- BPIFB4 p.Arg240Gln Uncertain significance Single submitter
- BPIFB4 p.Arg240Trp Uncertain significance Single submitter
- BPIFB4 p.Arg279Gly Uncertain significance Single submitter
- BPIFB4 p.Arg284His Uncertain significance Single submitter
- BPIFB4 p.Arg294Gln Uncertain significance Single submitter
- BPIFB4 p.Asn313Ser Uncertain significance Single submitter
- BPIFB4 p.Asn317Asp Uncertain significance Single submitter
- BPIFB4 p.Asp60Asn Uncertain significance Single submitter
- BPIFB4 p.Asp94Asn Uncertain significance Single submitter
- BPIFB4 p.Gln482His Uncertain significance Single submitter
- BPIFB4 p.Glu112Lys Uncertain significance Single submitter
- BPIFB4 p.Glu21Lys Uncertain significance Single submitter
- BPIFB4 p.Glu505Asp Uncertain significance Single submitter
- BPIFB4 p.Gly100Ala Uncertain significance Single submitter
- BPIFB4 p.Gly101Val Uncertain significance Single submitter
- BPIFB4 p.Gly137Trp Uncertain significance Single submitter
- BPIFB4 p.Gly145Ser Uncertain significance Single submitter
- BPIFB4 p.Gly167Asp Uncertain significance Single submitter
- BPIFB4 p.Gly186Asp Uncertain significance Single submitter
- BPIFB4 p.Gly213Ser Uncertain significance Single submitter
- BPIFB4 p.Gly244Ser Uncertain significance Single submitter
- BPIFB4 p.Gly347Ser Uncertain significance Single submitter
- BPIFB4 p.Gly388Ala Uncertain significance Single submitter
- BPIFB4 p.Gly39Val Uncertain significance Single submitter
- BPIFB4 p.Gly83Asp Uncertain significance Single submitter
- BPIFB4 p.His67Arg Uncertain significance Single submitter
- BPIFB4 p.Ile217Phe Uncertain significance Single submitter
- BPIFB4 p.Ile274Val Uncertain significance Single submitter
- BPIFB4 p.Ile334Leu Uncertain significance Single submitter
- BPIFB4 p.Ile481Val Uncertain significance Single submitter
- BPIFB4 p.Ile561Thr Uncertain significance Single submitter
- BPIFB4 p.Ile603Thr Uncertain significance Single submitter
- BPIFB4 p.Ile61Phe Uncertain significance Single submitter
- BPIFB4 p.Leu266Val Uncertain significance Single submitter
- BPIFB4 p.Leu26Ile Uncertain significance Single submitter
- BPIFB4 p.Leu551His Uncertain significance Single submitter
- BPIFB4 p.Leu563Phe Uncertain significance Single submitter
- BPIFB4 p.Leu81Pro Uncertain significance Single submitter
- BPIFB4 p.Met177Ile Uncertain significance Single submitter
- BPIFB4 p.Met177Thr Uncertain significance Single submitter
- BPIFB4 p.Met282Val Uncertain significance Single submitter
- BPIFB4 p.Met507Thr Uncertain significance Single submitter
- BPIFB4 p.Met539Lys Uncertain significance Single submitter
- BPIFB4 p.Met564Ile Uncertain significance Single submitter
- BPIFB4 p.Met564Val Uncertain significance Single submitter
- BPIFB4 p.Pro159His Uncertain significance Single submitter
- BPIFB4 p.Pro454Ala Uncertain significance Single submitter
- BPIFB4 p.Pro476Ser Uncertain significance Single submitter
- BPIFB4 p.Pro71Thr Uncertain significance Single submitter
- BPIFB4 p.Pro73Ala Uncertain significance Single submitter
- BPIFB4 p.Pro73Arg Uncertain significance Single submitter
- BPIFB4 p.Pro73Gln Uncertain significance Single submitter
- BPIFB4 p.Thr174Ala Uncertain significance Single submitter
- BPIFB4 p.Thr225Met Uncertain significance Single submitter
- BPIFB4 p.Thr24Met Uncertain significance Single submitter
- BPIFB4 p.Thr533Ala Uncertain significance Single submitter
- BPIFB4 p.Thr96Ala Uncertain significance Single submitter
- BPIFB4 p.Tyr252Phe Uncertain significance Single submitter
- BPIFB4 p.Val15Leu Uncertain significance Single submitter
- BPIFB4 p.Val161Ile Uncertain significance Single submitter
- BPIFB4 p.Val211Met Uncertain significance Single submitter
- BPIFB4 p.Val326Ile Uncertain significance Single submitter
- BPIFB4 p.Val32Met Uncertain significance Single submitter
- BPIFB4 p.Val349Met Uncertain significance Single submitter
- BPIFB4 p.Val68Ala Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- BPIFB4 p.Ala496Glu Uncertain significance Single submitter
- BPIFB4 p.Arg254Cys Likely benign Single submitter
- BPIFB4 p.Arg289Pro Uncertain significance Single submitter
- BPIFB4 p.Arg289Trp Uncertain significance Single submitter
- BPIFB4 p.Gly216Asp Uncertain significance Single submitter
- BPIFB4 p.Gly244Ala Uncertain significance Single submitter
- BPIFB4 p.Gly259Arg Uncertain significance Single submitter
- BPIFB4 p.Gly286Asp Uncertain significance Single submitter
- BPIFB4 p.Gly397Arg Uncertain significance Single submitter
- BPIFB4 p.Ile217Asn Uncertain significance Single submitter
- BPIFB4 p.Ile521Thr Uncertain significance Single submitter
- BPIFB4 p.Leu241Pro Uncertain significance Single submitter
- BPIFB4 p.Leu477Phe Uncertain significance Single submitter
- BPIFB4 p.Phe375Leu Uncertain significance Single submitter
- BPIFB4 p.Phe426Leu Uncertain significance Single submitter
- BPIFB4 p.Val556Leu Uncertain significance Single submitter
All BPIFB4 variants
Likely benign 11
- c.169+107T>G Single submitter
- c.170-154T>C Single submitter
- p.Ala185Ser Single submitter
- p.Ala579Thr Single submitter
- p.Ala614Thr Single submitter
- p.Arg236Gln Single submitter
- p.Arg254Cys Single submitter ⚠
- p.Asp325Asn Single submitter
- p.His20Gln Single submitter
- p.Thr24= Single submitter
- p.Thr29= Single submitter
Uncertain significance 97
- p.Ala165Ser Single submitter ⚠
- p.Ala185Thr Single submitter ⚠
- p.Ala269Ser Single submitter ⚠
- p.Ala439Thr Single submitter ⚠
- p.Ala462Thr Single submitter ⚠
- p.Ala496Glu Single submitter ⚠
- p.Ala496Val Single submitter ⚠
- p.Ala4Gly Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Ala542Thr Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Ala97Ser Single submitter ⚠
- p.Ala9Val Single submitter ⚠
- p.Arg150Gln Single submitter ⚠
- p.Arg236Trp Single submitter ⚠
- p.Arg240Gln Single submitter ⚠
- p.Arg240Trp Single submitter ⚠
- p.Arg279Gly Single submitter ⚠
- p.Arg284His Single submitter ⚠
- p.Arg289Pro Single submitter ⚠
- p.Arg289Trp Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Asn313Ser Single submitter ⚠
- p.Asn317Asp Single submitter ⚠
- p.Asp60Asn Single submitter ⚠
- p.Asp94Asn Single submitter ⚠
- p.Gln482His Single submitter ⚠
- p.Glu112Lys Single submitter ⚠
- p.Glu21Lys Single submitter ⚠
- p.Glu505Asp Single submitter ⚠
- p.Gly100Ala Single submitter ⚠
- p.Gly101Val Single submitter ⚠
- p.Gly137Trp Single submitter ⚠
- p.Gly145Ser Single submitter ⚠
- p.Gly167Asp Single submitter ⚠
- p.Gly186Asp Single submitter ⚠
- p.Gly213Ser Single submitter ⚠
- p.Gly216Asp Single submitter ⚠
- p.Gly244Ala Single submitter ⚠
- p.Gly244Ser Single submitter ⚠
- p.Gly259Arg Single submitter ⚠
- p.Gly286Asp Single submitter ⚠
- p.Gly347Ser Single submitter ⚠
- p.Gly388Ala Single submitter ⚠
- p.Gly397Arg Single submitter ⚠
- p.Gly39Val Single submitter ⚠
- p.Gly557Ser Single submitter
- p.Gly83Asp Single submitter ⚠
- p.His67Arg Single submitter ⚠
- p.Ile217Asn Single submitter ⚠
- p.Ile217Phe Single submitter ⚠
- p.Ile274Val Single submitter ⚠
- p.Ile334Leu Single submitter ⚠
- p.Ile481Val Single submitter ⚠
- p.Ile521Thr Single submitter ⚠
- p.Ile561Thr Single submitter ⚠
- p.Ile603Thr Single submitter ⚠
- p.Ile61Phe Single submitter ⚠
- p.Leu241Pro Single submitter ⚠
- p.Leu266Val Single submitter ⚠
- p.Leu26Ile Single submitter ⚠
- p.Leu477Phe Single submitter ⚠
- p.Leu551His Single submitter ⚠
- p.Leu563Phe Single submitter ⚠
- p.Leu590Val Single submitter
- p.Leu81Pro Single submitter ⚠
- p.Met177Ile Single submitter ⚠
- p.Met177Thr Single submitter ⚠
- p.Met282Val Single submitter ⚠
- p.Met507Thr Single submitter ⚠
- p.Met539Lys Single submitter ⚠
- p.Met564Ile Single submitter ⚠
- p.Met564Val Single submitter ⚠
- p.Phe375Leu Single submitter ⚠
- p.Phe426Leu Single submitter ⚠
- p.Pro159His Single submitter ⚠
- p.Pro454Ala Single submitter ⚠
- p.Pro476Ser Single submitter ⚠
- p.Pro71Thr Single submitter ⚠
- p.Pro73Ala Single submitter ⚠
- p.Pro73Arg Single submitter ⚠
- p.Pro73Gln Single submitter ⚠
- p.Thr174Ala Single submitter ⚠
- p.Thr225Met Single submitter ⚠
- p.Thr24Met Single submitter ⚠
- p.Thr533Ala Single submitter ⚠
- p.Thr96Ala Single submitter ⚠
- p.Tyr252Phe Single submitter ⚠
- p.Val15Leu Single submitter ⚠
- p.Val161Ile Single submitter ⚠
- p.Val211Met Single submitter ⚠
- p.Val326Ile Single submitter ⚠
- p.Val32Met Single submitter ⚠
- p.Val349Met Single submitter ⚠
- p.Val508Gly Single submitter
- p.Val556Leu Single submitter ⚠
- p.Val68Ala Single submitter ⚠