BPIFB1 — 67 ClinVar variants
All ClinVar germline BPIFB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
4 Benign · 5 Likely benign · 58 Uncertain significance
Full BPIFB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BPIFB1 p.Ala314Ser Uncertain significance Single submitter
- BPIFB1 p.Ala467Thr Uncertain significance Single submitter
- BPIFB1 p.Ala49Ser Uncertain significance Single submitter
- BPIFB1 p.Ala49Thr Uncertain significance Single submitter
- BPIFB1 p.Ala61Ser Uncertain significance Single submitter
- BPIFB1 p.Arg316Trp Uncertain significance Single submitter
- BPIFB1 p.Arg373His Uncertain significance Single submitter
- BPIFB1 p.Arg406Gln Uncertain significance Single submitter
- BPIFB1 p.Asn198His Uncertain significance Single submitter
- BPIFB1 p.Asn401His Uncertain significance Single submitter
- BPIFB1 p.Asn48Ser Uncertain significance Single submitter
- BPIFB1 p.Asp233Val Uncertain significance Single submitter
- BPIFB1 p.Gln387Leu Uncertain significance Single submitter
- BPIFB1 p.Gln408Arg Uncertain significance Single submitter
- BPIFB1 p.Gln55Arg Uncertain significance Single submitter
- BPIFB1 p.Glu347Lys Uncertain significance Single submitter
- BPIFB1 p.Glu457Gln Uncertain significance Single submitter
- BPIFB1 p.Glu457Lys Uncertain significance Single submitter
- BPIFB1 p.Gly322Arg Uncertain significance Single submitter
- BPIFB1 p.Gly32Ser Uncertain significance Single submitter
- BPIFB1 p.Gly413Glu Uncertain significance Single submitter
- BPIFB1 p.Gly68Arg Uncertain significance Single submitter
- BPIFB1 p.Ile36Val Uncertain significance Single submitter
- BPIFB1 p.Ile402Val Uncertain significance Single submitter
- BPIFB1 p.Ile90Phe Uncertain significance Single submitter
- BPIFB1 p.Leu332Arg Uncertain significance Single submitter
- BPIFB1 p.Leu475Val Uncertain significance Single submitter
- BPIFB1 p.Leu95Phe Uncertain significance Single submitter
- BPIFB1 p.Lys327Met Uncertain significance Single submitter
- BPIFB1 p.Met116Val Uncertain significance Single submitter
- BPIFB1 p.Met133Ile Uncertain significance Single submitter
- BPIFB1 p.Met133Leu Uncertain significance Single submitter
- BPIFB1 p.Met185Leu Uncertain significance Single submitter
- BPIFB1 p.Pro273Arg Uncertain significance Single submitter
- BPIFB1 p.Pro374Ser Uncertain significance Single submitter
- BPIFB1 p.Ser156Cys Uncertain significance Single submitter
- BPIFB1 p.Ser269Phe Uncertain significance Single submitter
- BPIFB1 p.Ser320Thr Uncertain significance Single submitter
- BPIFB1 p.Ser51Gly Uncertain significance Single submitter
- BPIFB1 p.Thr243Ala Uncertain significance Single submitter
- BPIFB1 p.Thr274Ile Uncertain significance Single submitter
- BPIFB1 p.Thr335Ile Uncertain significance Single submitter
- BPIFB1 p.Thr390Ile Uncertain significance Single submitter
- BPIFB1 p.Val129Ala Uncertain significance Single submitter
- BPIFB1 p.Val289Met Uncertain significance Single submitter
- BPIFB1 p.Val421Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- BPIFB1 p.Ala328Pro Uncertain significance Single submitter
- BPIFB1 p.Ala61Asp Uncertain significance Single submitter
- BPIFB1 p.Arg406Trp Uncertain significance Single submitter
- BPIFB1 p.Arg63Trp Uncertain significance Single submitter
- BPIFB1 p.Gly32Arg Uncertain significance Single submitter
- BPIFB1 p.Leu195Pro Uncertain significance Single submitter
- BPIFB1 p.Leu234His Uncertain significance Single submitter
- BPIFB1 p.Met62Lys Uncertain significance Single submitter
- BPIFB1 p.Phe131Leu Uncertain significance Single submitter
- BPIFB1 p.Pro57Leu Uncertain significance Single submitter
- BPIFB1 p.Val203Met Uncertain significance Single submitter
All BPIFB1 variants
Benign 4
- p.Lys39Arg Multiple submitters
- p.Pro113Ser Multiple submitters
- p.Pro4= Multiple submitters
- p.Thr140Ala Multiple submitters
Likely benign 5
- p.Ala467Gly Single submitter
- p.Arg229His Single submitter
- p.Arg316Gln Single submitter
- p.Ser285Arg Single submitter
- p.Val80Ile Single submitter
Uncertain significance 58
- p.Ala314Ser Single submitter ⚠
- p.Ala328Pro Single submitter ⚠
- p.Ala467Thr Single submitter ⚠
- p.Ala49Ser Single submitter ⚠
- p.Ala49Thr Single submitter ⚠
- p.Ala61Asp Single submitter ⚠
- p.Ala61Ser Single submitter ⚠
- p.Arg316Trp Single submitter ⚠
- p.Arg373His Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg406Trp Single submitter ⚠
- p.Arg63Trp Single submitter ⚠
- p.Asn198His Single submitter ⚠
- p.Asn401His Single submitter ⚠
- p.Asn48Ser Single submitter ⚠
- p.Asp233Val Single submitter ⚠
- p.Gln387Leu Single submitter ⚠
- p.Gln408Arg Single submitter ⚠
- p.Gln55Arg Single submitter ⚠
- p.Glu347Lys Single submitter ⚠
- p.Glu457Gln Single submitter ⚠
- p.Glu457Lys Single submitter ⚠
- p.Gly322Arg Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly32Ser Single submitter ⚠
- p.Gly413Glu Single submitter ⚠
- p.Gly68Arg Single submitter ⚠
- p.Ile36Val Single submitter ⚠
- p.Ile402Val Single submitter ⚠
- p.Ile90Phe Single submitter ⚠
- p.Leu195Pro Single submitter ⚠
- p.Leu234His Single submitter ⚠
- p.Leu332Arg Single submitter ⚠
- p.Leu475Val Single submitter ⚠
- p.Leu95Phe Single submitter ⚠
- p.Lys327Met Single submitter ⚠
- p.Met116Val Single submitter ⚠
- p.Met133Ile Single submitter ⚠
- p.Met133Leu Single submitter ⚠
- p.Met185Leu Single submitter ⚠
- p.Met62Lys Single submitter ⚠
- p.Phe131Leu Single submitter ⚠
- p.Pro113Leu Single submitter
- p.Pro273Arg Single submitter ⚠
- p.Pro374Ser Single submitter ⚠
- p.Pro57Leu Single submitter ⚠
- p.Ser156Cys Single submitter ⚠
- p.Ser269Phe Single submitter ⚠
- p.Ser320Thr Single submitter ⚠
- p.Ser51Gly Single submitter ⚠
- p.Thr243Ala Single submitter ⚠
- p.Thr274Ile Single submitter ⚠
- p.Thr335Ile Single submitter ⚠
- p.Thr390Ile Single submitter ⚠
- p.Val129Ala Single submitter ⚠
- p.Val203Met Single submitter ⚠
- p.Val289Met Single submitter ⚠
- p.Val421Ile Single submitter ⚠