BPIFC — 70 ClinVar variants
All ClinVar germline BPIFC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
3 Benign · 3 Likely benign · 64 Uncertain significance
Full BPIFC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BPIFC p.Ala184Val Uncertain significance Single submitter
- BPIFC p.Ala204Ser Uncertain significance Single submitter
- BPIFC p.Ala209Val Uncertain significance Single submitter
- BPIFC p.Ala96Ser Uncertain significance Single submitter
- BPIFC p.Ala96Val Uncertain significance Single submitter
- BPIFC p.Arg326Gln Uncertain significance Single submitter
- BPIFC p.Arg326Trp Uncertain significance Single submitter
- BPIFC p.Asn426Ser Uncertain significance Single submitter
- BPIFC p.Asn82Asp Uncertain significance Single submitter
- BPIFC p.Asp462His Uncertain significance Single submitter
- BPIFC p.Asp475Asn Uncertain significance Single submitter
- BPIFC p.Cys200Trp Uncertain significance Single submitter
- BPIFC p.Gln315Arg Uncertain significance Single submitter
- BPIFC p.Gln500Glu Uncertain significance Single submitter
- BPIFC p.Gly142Asp Uncertain significance Single submitter
- BPIFC p.Gly493Asp Uncertain significance Single submitter
- BPIFC p.Ile145Met Uncertain significance Single submitter
- BPIFC p.Ile282Leu Uncertain significance Single submitter
- BPIFC p.Ile348Thr Uncertain significance Single submitter
- BPIFC p.Ile364Met Uncertain significance Single submitter
- BPIFC p.Ile431Leu Uncertain significance Single submitter
- BPIFC p.Leu402Trp Uncertain significance Single submitter
- BPIFC p.Leu59Phe Uncertain significance Single submitter
- BPIFC p.Lys477Arg Uncertain significance Single submitter
- BPIFC p.Lys483Glu Uncertain significance Single submitter
- BPIFC p.Met338Leu Uncertain significance Single submitter
- BPIFC p.Pro265Ser Uncertain significance Single submitter
- BPIFC p.Ser166Arg Uncertain significance Single submitter
- BPIFC p.Thr116Ala Uncertain significance Single submitter
- BPIFC p.Tyr162Phe Uncertain significance Single submitter
- BPIFC p.Tyr226His Uncertain significance Single submitter
- BPIFC p.Val170Ile Uncertain significance Single submitter
- BPIFC p.Val170Leu Uncertain significance Single submitter
- BPIFC p.Val251Ile Uncertain significance Single submitter
- BPIFC p.Val379Ile Uncertain significance Single submitter
- BPIFC p.Val421Ile Uncertain significance Single submitter
- BPIFC p.Val459Ile Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- BPIFC p.Arg273Cys Uncertain significance Single submitter
- BPIFC p.Arg416Cys Uncertain significance Single submitter
- BPIFC p.Asp359Asn Uncertain significance Single submitter
- BPIFC p.Glu51Ala Uncertain significance Single submitter
- BPIFC p.Gly11Glu Uncertain significance Single submitter
- BPIFC p.Gly129Arg Uncertain significance Single submitter
- BPIFC p.Gly142Ser Uncertain significance Single submitter
- BPIFC p.Gly174Arg Uncertain significance Single submitter
- BPIFC p.Ile463Thr Uncertain significance Single submitter
- BPIFC p.Leu133Met Uncertain significance Single submitter
- BPIFC p.Leu15Pro Uncertain significance Single submitter
- BPIFC p.Leu199Val Uncertain significance Single submitter
- BPIFC p.Leu246Met Uncertain significance Single submitter
- BPIFC p.Leu394Trp Uncertain significance Single submitter
- BPIFC p.Leu59Pro Uncertain significance Single submitter
- BPIFC p.Phe125Leu Uncertain significance Single submitter
- BPIFC p.Phe263Ser Uncertain significance Single submitter
- BPIFC p.Pro262His Uncertain significance Single submitter
- BPIFC p.Pro262Thr Uncertain significance Single submitter
- BPIFC p.Ser136Cys Uncertain significance Single submitter
- BPIFC p.Thr35Ser Uncertain significance Single submitter
- BPIFC p.Trp16Arg Uncertain significance Single submitter
- BPIFC p.Tyr41Cys Uncertain significance Single submitter
- BPIFC p.Tyr41His Uncertain significance Single submitter
- BPIFC p.Tyr78Cys Uncertain significance Single submitter
- BPIFC p.Val323Gly Uncertain significance Single submitter
- BPIFC p.Val323Met Uncertain significance Single submitter
All BPIFC variants
Benign 3
- c.531-16dup Single submitter
- c.531-17_531-16dup Single submitter
- c.531-18_531-16dup Single submitter
Likely benign 3
- p.Ala105Val Single submitter
- p.Asn82= Single submitter
- p.Val299Ala Single submitter
Uncertain significance 64
- p.Ala184Val Single submitter ⚠
- p.Ala204Ser Single submitter ⚠
- p.Ala209Val Single submitter ⚠
- p.Ala96Ser Single submitter ⚠
- p.Ala96Val Single submitter ⚠
- p.Arg273Cys Single submitter ⚠
- p.Arg326Gln Single submitter ⚠
- p.Arg326Trp Single submitter ⚠
- p.Arg416Cys Single submitter ⚠
- p.Asn426Ser Single submitter ⚠
- p.Asn82Asp Single submitter ⚠
- p.Asp359Asn Single submitter ⚠
- p.Asp462His Single submitter ⚠
- p.Asp475Asn Single submitter ⚠
- p.Cys200Trp Single submitter ⚠
- p.Gln315Arg Single submitter ⚠
- p.Gln500Glu Single submitter ⚠
- p.Glu51Ala Single submitter ⚠
- p.Gly11Glu Single submitter ⚠
- p.Gly129Arg Single submitter ⚠
- p.Gly142Asp Single submitter ⚠
- p.Gly142Ser Single submitter ⚠
- p.Gly174Arg Single submitter ⚠
- p.Gly493Asp Single submitter ⚠
- p.Ile145Met Single submitter ⚠
- p.Ile282Leu Single submitter ⚠
- p.Ile348Thr Single submitter ⚠
- p.Ile364Met Single submitter ⚠
- p.Ile431Leu Single submitter ⚠
- p.Ile463Thr Single submitter ⚠
- p.Leu133Met Single submitter ⚠
- p.Leu15Pro Single submitter ⚠
- p.Leu199Val Single submitter ⚠
- p.Leu246Met Single submitter ⚠
- p.Leu394Trp Single submitter ⚠
- p.Leu402Trp Single submitter ⚠
- p.Leu59Phe Single submitter ⚠
- p.Leu59Pro Single submitter ⚠
- p.Lys477Arg Single submitter ⚠
- p.Lys483Glu Single submitter ⚠
- p.Met338Leu Single submitter ⚠
- p.Phe125Leu Single submitter ⚠
- p.Phe263Ser Single submitter ⚠
- p.Pro262His Single submitter ⚠
- p.Pro262Thr Single submitter ⚠
- p.Pro265Ser Single submitter ⚠
- p.Ser136Cys Single submitter ⚠
- p.Ser166Arg Single submitter ⚠
- p.Thr116Ala Single submitter ⚠
- p.Thr35Ser Single submitter ⚠
- p.Trp16Arg Single submitter ⚠
- p.Tyr162Phe Single submitter ⚠
- p.Tyr226His Single submitter ⚠
- p.Tyr41Cys Single submitter ⚠
- p.Tyr41His Single submitter ⚠
- p.Tyr78Cys Single submitter ⚠
- p.Val170Ile Single submitter ⚠
- p.Val170Leu Single submitter ⚠
- p.Val251Ile Single submitter ⚠
- p.Val323Gly Single submitter ⚠
- p.Val323Met Single submitter ⚠
- p.Val379Ile Single submitter ⚠
- p.Val421Ile Single submitter ⚠
- p.Val459Ile Single submitter ⚠