BPIFB6 — 75 ClinVar variants
All ClinVar germline BPIFB6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
14 Likely benign · 61 Uncertain significance
Full BPIFB6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BPIFB6 p.Ala349Asp Uncertain significance Single submitter
- BPIFB6 p.Ala37Thr Uncertain significance Single submitter
- BPIFB6 p.Ala445Ser Uncertain significance Single submitter
- BPIFB6 p.Ala51Ser Uncertain significance Single submitter
- BPIFB6 p.Arg17Gln Uncertain significance Single submitter
- BPIFB6 p.Arg25Gln Uncertain significance Single submitter
- BPIFB6 p.Arg344Gln Uncertain significance Single submitter
- BPIFB6 p.Arg346Gln Uncertain significance Single submitter
- BPIFB6 p.Arg3Trp Uncertain significance Single submitter
- BPIFB6 p.Asn190Lys Uncertain significance Single submitter
- BPIFB6 p.Asn371Ser Uncertain significance Single submitter
- BPIFB6 p.Asp280Gly Uncertain significance Single submitter
- BPIFB6 p.Cys137Tyr Uncertain significance Single submitter
- BPIFB6 p.Glu357Ala Uncertain significance Single submitter
- BPIFB6 p.Glu40Lys Uncertain significance Single submitter
- BPIFB6 p.Glu50Lys Uncertain significance Single submitter
- BPIFB6 p.Gly171Glu Uncertain significance Single submitter
- BPIFB6 p.Gly198Ser Uncertain significance Single submitter
- BPIFB6 p.Gly240Arg Uncertain significance Single submitter
- BPIFB6 p.Gly453Ser Uncertain significance Single submitter
- BPIFB6 p.Gly52Asp Uncertain significance Single submitter
- BPIFB6 p.His166Gln Uncertain significance Single submitter
- BPIFB6 p.Ile177Met Uncertain significance Single submitter
- BPIFB6 p.Ile234Val Uncertain significance Single submitter
- BPIFB6 p.Ile283Thr Uncertain significance Single submitter
- BPIFB6 p.Ile87Val Uncertain significance Single submitter
- BPIFB6 p.Leu436Val Uncertain significance Single submitter
- BPIFB6 p.Lys155Asn Uncertain significance Single submitter
- BPIFB6 p.Lys326Arg Uncertain significance Single submitter
- BPIFB6 p.Met103Thr Uncertain significance Single submitter
- BPIFB6 p.Met103Val Uncertain significance Single submitter
- BPIFB6 p.Met325Val Uncertain significance Single submitter
- BPIFB6 p.Met340Ile Uncertain significance Single submitter
- BPIFB6 p.Met432Val Uncertain significance Single submitter
- BPIFB6 p.Pro194Ser Uncertain significance Single submitter
- BPIFB6 p.Pro196Leu Uncertain significance Single submitter
- BPIFB6 p.Pro246His Uncertain significance Single submitter
- BPIFB6 p.Pro287Ser Uncertain significance Single submitter
- BPIFB6 p.Pro320Ala Uncertain significance Single submitter
- BPIFB6 p.Ser391Leu Uncertain significance Single submitter
- BPIFB6 p.Ser41Gly Uncertain significance Single submitter
- BPIFB6 p.Thr98Ala Uncertain significance Single submitter
- BPIFB6 p.Val111Met Uncertain significance Single submitter
- BPIFB6 p.Val197Met Uncertain significance Single submitter
- BPIFB6 p.Val415Ile Uncertain significance Single submitter
- BPIFB6 p.Val422Leu Uncertain significance Single submitter
- BPIFB6 p.Val76Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- BPIFB6 p.Ala445Asp Uncertain significance Single submitter
- BPIFB6 p.Arg120Trp Uncertain significance Single submitter
- BPIFB6 p.Asp178Tyr Uncertain significance Single submitter
- BPIFB6 p.Gly393Asp Uncertain significance Single submitter
- BPIFB6 p.Ile298Thr Uncertain significance Single submitter
- BPIFB6 p.Leu286Pro Uncertain significance Single submitter
- BPIFB6 p.Lys159Asn Uncertain significance Single submitter
- BPIFB6 p.Pro194Leu Uncertain significance Single submitter
- BPIFB6 p.Pro306Ser Uncertain significance Single submitter
- BPIFB6 p.Ser264Cys Uncertain significance Single submitter
- BPIFB6 p.Thr291Ala Uncertain significance Single submitter
- BPIFB6 p.Tyr412Cys Uncertain significance Single submitter
All BPIFB6 variants
Likely benign 14
- c.1143-4A>G Single submitter
- c.517-18T>C Single submitter
- c.846+18_846+28del Single submitter
- c.97+19C>T Single submitter
- p.Ala210Thr Single submitter
- p.Ala212Thr Single submitter
- p.Ala242Thr Single submitter
- p.Arg123Gln Single submitter
- p.Leu13= Single submitter
- p.Met156Val Single submitter
- p.Thr213= Single submitter
- p.Trp345Arg Single submitter
- p.Val131Met Single submitter
- p.Val203Ile Single submitter
Uncertain significance 61
- c.303-6C>T Single submitter
- p.Ala349Asp Single submitter ⚠
- p.Ala37Thr Single submitter ⚠
- p.Ala445Asp Single submitter ⚠
- p.Ala445Ser Single submitter ⚠
- p.Ala51Ser Single submitter ⚠
- p.Arg120Trp Single submitter ⚠
- p.Arg17Gln Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg344Gln Single submitter ⚠
- p.Arg346Gln Single submitter ⚠
- p.Arg3Trp Single submitter ⚠
- p.Asn190Lys Single submitter ⚠
- p.Asn371Ser Single submitter ⚠
- p.Asp178Tyr Single submitter ⚠
- p.Asp280Gly Single submitter ⚠
- p.Cys137Tyr Single submitter ⚠
- p.Glu357Ala Single submitter ⚠
- p.Glu40Lys Single submitter ⚠
- p.Glu50Lys Single submitter ⚠
- p.Gly171Glu Single submitter ⚠
- p.Gly198Ser Single submitter ⚠
- p.Gly240Arg Single submitter ⚠
- p.Gly393Asp Single submitter ⚠
- p.Gly453Ser Single submitter ⚠
- p.Gly52Asp Single submitter ⚠
- p.His166Gln Single submitter ⚠
- p.Ile177Met Single submitter ⚠
- p.Ile234Val Single submitter ⚠
- p.Ile283Thr Single submitter ⚠
- p.Ile298Thr Single submitter ⚠
- p.Ile87Val Single submitter ⚠
- p.Leu286Pro Single submitter ⚠
- p.Leu436Val Single submitter ⚠
- p.Lys155Asn Single submitter ⚠
- p.Lys159Asn Single submitter ⚠
- p.Lys326Arg Single submitter ⚠
- p.Met103Thr Single submitter ⚠
- p.Met103Val Single submitter ⚠
- p.Met325Val Single submitter ⚠
- p.Met340Ile Single submitter ⚠
- p.Met432Val Single submitter ⚠
- p.Pro194Leu Single submitter ⚠
- p.Pro194Ser Single submitter ⚠
- p.Pro196Leu Single submitter ⚠
- p.Pro246His Single submitter ⚠
- p.Pro287Ser Single submitter ⚠
- p.Pro306Ser Single submitter ⚠
- p.Pro320Ala Single submitter ⚠
- p.Pro427Leu Single submitter
- p.Ser264Cys Single submitter ⚠
- p.Ser391Leu Single submitter ⚠
- p.Ser41Gly Single submitter ⚠
- p.Thr291Ala Single submitter ⚠
- p.Thr98Ala Single submitter ⚠
- p.Tyr412Cys Single submitter ⚠
- p.Val111Met Single submitter ⚠
- p.Val197Met Single submitter ⚠
- p.Val415Ile Single submitter ⚠
- p.Val422Leu Single submitter ⚠
- p.Val76Ile Single submitter ⚠