BPIFA1 — 43 ClinVar variants
All ClinVar germline BPIFA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Benign · 4 Likely benign · 38 Uncertain significance
Full BPIFA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BPIFA1 p.Asp112Glu Uncertain significance Single submitter
- BPIFA1 p.Gln20Pro Uncertain significance Single submitter
- BPIFA1 p.Gln30Glu Uncertain significance Single submitter
- BPIFA1 p.Glu171Lys Uncertain significance Single submitter
- BPIFA1 p.Gly196Ser Uncertain significance Single submitter
- BPIFA1 p.Gly249Arg Uncertain significance Single submitter
- BPIFA1 p.Gly66Asp Uncertain significance Single submitter
- BPIFA1 p.Gly6Ser Uncertain significance Single submitter
- BPIFA1 p.Gly80Glu Uncertain significance Single submitter
- BPIFA1 p.His182Tyr Uncertain significance Single submitter
- BPIFA1 p.Ile108Met Uncertain significance Single submitter
- BPIFA1 p.Ile159Phe Uncertain significance Single submitter
- BPIFA1 p.Ile236Leu Uncertain significance Single submitter
- BPIFA1 p.Ile76Val Uncertain significance Single submitter
- BPIFA1 p.Ile8Thr Uncertain significance Single submitter
- BPIFA1 p.Leu115Val Uncertain significance Single submitter
- BPIFA1 p.Leu116Met Uncertain significance Single submitter
- BPIFA1 p.Leu215Val Uncertain significance Single submitter
- BPIFA1 p.Leu24Gln Uncertain significance Single submitter
- BPIFA1 p.Phe21Tyr Uncertain significance Single submitter
- BPIFA1 p.Pro144Ser Uncertain significance Single submitter
- BPIFA1 p.Pro41Leu Uncertain significance Single submitter
- BPIFA1 p.Pro41Ser Uncertain significance Single submitter
- BPIFA1 p.Ser56Arg Uncertain significance Single submitter
- BPIFA1 p.Ser56Thr Uncertain significance Single submitter
- BPIFA1 p.Thr160Ala Uncertain significance Single submitter
- BPIFA1 p.Thr45Ile Uncertain significance Single submitter
- BPIFA1 p.Val131Ala Uncertain significance Single submitter
- BPIFA1 p.Val166Met Uncertain significance Single submitter
- BPIFA1 p.Val253Phe Uncertain significance Single submitter
- BPIFA1 p.Val26Met Uncertain significance Single submitter
- BPIFA1 p.Val98Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- BPIFA1 p.Gly85Cys Uncertain significance Single submitter
- BPIFA1 p.Ile137Thr Uncertain significance Single submitter
- BPIFA1 p.Leu139Phe Uncertain significance Single submitter
- BPIFA1 p.Pro216Ser Uncertain significance Single submitter
- BPIFA1 p.Pro72Leu Uncertain significance Single submitter
- BPIFA1 p.Val146Asp Uncertain significance Single submitter
All BPIFA1 variants
Benign 1
- p.Gln188Lys Multiple submitters
Likely benign 4
- p.Arg152Lys Single submitter
- p.Asn103Lys Single submitter
- p.Gln188His Single submitter
- p.Val26Leu Single submitter
Uncertain significance 38
- p.Asp112Glu Single submitter ⚠
- p.Gln20Pro Single submitter ⚠
- p.Gln30Glu Single submitter ⚠
- p.Glu171Lys Single submitter ⚠
- p.Gly196Ser Single submitter ⚠
- p.Gly249Arg Single submitter ⚠
- p.Gly66Asp Single submitter ⚠
- p.Gly6Ser Single submitter ⚠
- p.Gly80Glu Single submitter ⚠
- p.Gly85Cys Single submitter ⚠
- p.His182Tyr Single submitter ⚠
- p.Ile108Met Single submitter ⚠
- p.Ile137Thr Single submitter ⚠
- p.Ile159Phe Single submitter ⚠
- p.Ile236Leu Single submitter ⚠
- p.Ile76Val Single submitter ⚠
- p.Ile8Thr Single submitter ⚠
- p.Leu115Val Single submitter ⚠
- p.Leu116Met Single submitter ⚠
- p.Leu139Phe Single submitter ⚠
- p.Leu215Val Single submitter ⚠
- p.Leu24Gln Single submitter ⚠
- p.Phe21Tyr Single submitter ⚠
- p.Pro144Ser Single submitter ⚠
- p.Pro216Ser Single submitter ⚠
- p.Pro41Leu Single submitter ⚠
- p.Pro41Ser Single submitter ⚠
- p.Pro72Leu Single submitter ⚠
- p.Ser56Arg Single submitter ⚠
- p.Ser56Thr Single submitter ⚠
- p.Thr160Ala Single submitter ⚠
- p.Thr45Ile Single submitter ⚠
- p.Val131Ala Single submitter ⚠
- p.Val146Asp Single submitter ⚠
- p.Val166Met Single submitter ⚠
- p.Val253Phe Single submitter ⚠
- p.Val26Met Single submitter ⚠
- p.Val98Met Single submitter ⚠