BPIFB3 — 76 ClinVar variants
All ClinVar germline BPIFB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
5 Likely benign · 71 Uncertain significance
Full BPIFB3 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 lean, ClinVar uncertain 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BPIFB3 p.Ala134Ser Uncertain significance Single submitter
- BPIFB3 p.Ala134Val Uncertain significance Single submitter
- BPIFB3 p.Ala135Val Uncertain significance Single submitter
- BPIFB3 p.Ala144Ser Uncertain significance Single submitter
- BPIFB3 p.Ala211Val Uncertain significance Single submitter
- BPIFB3 p.Ala28Ser Uncertain significance Single submitter
- BPIFB3 p.Ala28Thr Uncertain significance Single submitter
- BPIFB3 p.Ala317Thr Uncertain significance Single submitter
- BPIFB3 p.Ala391Thr Uncertain significance Single submitter
- BPIFB3 p.Ala414Asp Uncertain significance Single submitter
- BPIFB3 p.Ala439Thr Uncertain significance Single submitter
- BPIFB3 p.Arg142Gln Uncertain significance Single submitter
- BPIFB3 p.Arg142Leu Uncertain significance Single submitter
- BPIFB3 p.Arg261His Uncertain significance Single submitter
- BPIFB3 p.Asn349Ser Uncertain significance Single submitter
- BPIFB3 p.Asn464His Uncertain significance Single submitter
- BPIFB3 p.Asp256Glu Uncertain significance Single submitter
- BPIFB3 p.Asp416Asn Uncertain significance Single submitter
- BPIFB3 p.Asp441Asn Uncertain significance Single submitter
- BPIFB3 p.Glu225Asp Uncertain significance Single submitter
- BPIFB3 p.Glu86Lys Uncertain significance Single submitter
- BPIFB3 p.Gly165Asp Uncertain significance Single submitter
- BPIFB3 p.Gly210Glu Uncertain significance Single submitter
- BPIFB3 p.Gly25Ser Uncertain significance Single submitter
- BPIFB3 p.Gly288Arg Uncertain significance Single submitter
- BPIFB3 p.Gly36Ser Uncertain significance Single submitter
- BPIFB3 p.Gly62Asp Uncertain significance Single submitter
- BPIFB3 p.Gly65Asp Uncertain significance Single submitter
- BPIFB3 p.Gly83Asp Uncertain significance Single submitter
- BPIFB3 p.His426Arg Uncertain significance Single submitter
- BPIFB3 p.Ile239Lys Uncertain significance Single submitter
- BPIFB3 p.Ile461Thr Uncertain significance Single submitter
- BPIFB3 p.Leu173Met Uncertain significance Single submitter
- BPIFB3 p.Leu208Ile Uncertain significance Single submitter
- BPIFB3 p.Leu319Val Uncertain significance Single submitter
- BPIFB3 p.Lys350Glu Uncertain significance Single submitter
- BPIFB3 p.Lys368Glu Uncertain significance Single submitter
- BPIFB3 p.Lys448Met Uncertain significance Single submitter
- BPIFB3 p.Met298Leu Uncertain significance Single submitter
- BPIFB3 p.Pro267Ser Uncertain significance Single submitter
- BPIFB3 p.Pro343Ser Uncertain significance Single submitter
- BPIFB3 p.Pro434Thr Uncertain significance Single submitter
- BPIFB3 p.Ser200Gly Uncertain significance Single submitter
- BPIFB3 p.Ser390Leu Uncertain significance Single submitter
- BPIFB3 p.Ser399Tyr Uncertain significance Single submitter
- BPIFB3 p.Ser404Arg Uncertain significance Single submitter
- BPIFB3 p.Thr162Arg Uncertain significance Single submitter
- BPIFB3 p.Thr23Met Uncertain significance Single submitter
- BPIFB3 p.Thr26Met Uncertain significance Single submitter
- BPIFB3 p.Thr313Ala Uncertain significance Single submitter
- BPIFB3 p.Thr313Asn Uncertain significance Single submitter
- BPIFB3 p.Thr97Met Uncertain significance Single submitter
- BPIFB3 p.Val139Met Uncertain significance Single submitter
- BPIFB3 p.Val354Ile Uncertain significance Single submitter
- BPIFB3 p.Val366Ile Uncertain significance Single submitter
- BPIFB3 p.Val462Ala Uncertain significance Single submitter
- BPIFB3 p.Val59Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- BPIFB3 p.Ala352Asp Uncertain significance Single submitter
- BPIFB3 p.Arg338Pro Uncertain significance Single submitter
- BPIFB3 p.Asp31Ala Uncertain significance Single submitter
- BPIFB3 p.Gly68Glu Uncertain significance Single submitter
- BPIFB3 p.Gly79Arg Uncertain significance Single submitter
- BPIFB3 p.Ile239Thr Uncertain significance Single submitter
- BPIFB3 p.Leu186Val Uncertain significance Single submitter
- BPIFB3 p.Leu333Phe Uncertain significance Single submitter
- BPIFB3 p.Leu35Arg Uncertain significance Single submitter
- BPIFB3 p.Phe375Leu Uncertain significance Single submitter
- BPIFB3 p.Pro302Thr Uncertain significance Single submitter
All BPIFB3 variants
Likely benign 5
- p.Glu46Gly Single submitter
- p.Gly429Arg Single submitter
- p.Leu27= Single submitter
- p.Ser114Asn Single submitter
- p.Ser141= Single submitter
Uncertain significance 71
- p.Ala134Ser Single submitter ⚠
- p.Ala134Val Single submitter ⚠
- p.Ala135Val Single submitter ⚠
- p.Ala144Ser Single submitter ⚠
- p.Ala211Val Single submitter ⚠
- p.Ala28Ser Single submitter ⚠
- p.Ala28Thr Single submitter ⚠
- p.Ala317Thr Single submitter ⚠
- p.Ala352Asp Single submitter ⚠
- p.Ala391Thr Single submitter ⚠
- p.Ala414Asp Single submitter ⚠
- p.Ala439Thr Single submitter ⚠
- p.Arg142Gln Single submitter ⚠
- p.Arg142Leu Single submitter ⚠
- p.Arg261His Single submitter ⚠
- p.Arg338Pro Single submitter ⚠
- p.Asn349Ser Single submitter ⚠
- p.Asn464His Single submitter ⚠
- p.Asp256Glu Single submitter ⚠
- p.Asp31Ala Single submitter ⚠
- p.Asp416Asn Single submitter ⚠
- p.Asp441Asn Single submitter ⚠
- p.Glu225Asp Single submitter ⚠
- p.Glu86Lys Single submitter ⚠
- p.Gly151Ser Single submitter
- p.Gly165Asp Single submitter ⚠
- p.Gly210Glu Single submitter ⚠
- p.Gly25Ser Single submitter ⚠
- p.Gly288Arg Single submitter ⚠
- p.Gly36Ser Single submitter ⚠
- p.Gly62Asp Single submitter ⚠
- p.Gly65Asp Single submitter ⚠
- p.Gly68Glu Single submitter ⚠
- p.Gly79Arg Single submitter ⚠
- p.Gly83Asp Single submitter ⚠
- p.His426Arg Single submitter ⚠
- p.Ile239Lys Single submitter ⚠
- p.Ile239Thr Single submitter ⚠
- p.Ile461Thr Single submitter ⚠
- p.Leu173Met Single submitter ⚠
- p.Leu186Val Single submitter ⚠
- p.Leu208Ile Single submitter ⚠
- p.Leu319Val Single submitter ⚠
- p.Leu333Phe Single submitter ⚠
- p.Leu35Arg Single submitter ⚠
- p.Leu398Pro Single submitter
- p.Lys350Glu Single submitter ⚠
- p.Lys368Glu Single submitter ⚠
- p.Lys448Met Single submitter ⚠
- p.Met298Leu Single submitter ⚠
- p.Phe375Leu Single submitter ⚠
- p.Pro267Ser Single submitter ⚠
- p.Pro302Thr Single submitter ⚠
- p.Pro343Ser Single submitter ⚠
- p.Pro434Thr Single submitter ⚠
- p.Ser200Gly Single submitter ⚠
- p.Ser390Leu Single submitter ⚠
- p.Ser399Tyr Single submitter ⚠
- p.Ser404Arg Single submitter ⚠
- p.Thr117Ala Single submitter
- p.Thr162Arg Single submitter ⚠
- p.Thr23Met Single submitter ⚠
- p.Thr26Met Single submitter ⚠
- p.Thr313Ala Single submitter ⚠
- p.Thr313Asn Single submitter ⚠
- p.Thr97Met Single submitter ⚠
- p.Val139Met Single submitter ⚠
- p.Val354Ile Single submitter ⚠
- p.Val366Ile Single submitter ⚠
- p.Val462Ala Single submitter ⚠
- p.Val59Met Single submitter ⚠