BPHL — 46 ClinVar variants
All ClinVar germline BPHL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Benign · 2 Likely benign · 43 Uncertain significance
Full BPHL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BPHL p.Ala164Pro Uncertain significance Single submitter
- BPHL p.Ala236Ser Uncertain significance Single submitter
- BPHL p.Ala34Ser Uncertain significance Single submitter
- BPHL p.Arg12Cys Uncertain significance Single submitter
- BPHL p.Arg12Leu Uncertain significance Single submitter
- BPHL p.Arg226Gln Uncertain significance Single submitter
- BPHL p.Gly212Asp Uncertain significance Single submitter
- BPHL p.Gly68Glu Uncertain significance Single submitter
- BPHL p.His25Gln Uncertain significance Single submitter
- BPHL p.Ile147Asn Uncertain significance Single submitter
- BPHL p.Ile238Thr Uncertain significance Single submitter
- BPHL p.Lys151Arg Uncertain significance Single submitter
- BPHL p.Lys151Glu Uncertain significance Single submitter
- BPHL p.Phe114Ser Uncertain significance Single submitter
- BPHL p.Pro31Arg Uncertain significance Single submitter
- BPHL p.Pro96Ser Uncertain significance Single submitter
- BPHL p.Ser173Gly Uncertain significance Single submitter
- BPHL p.Ser72Asn Uncertain significance Single submitter
- BPHL p.Thr169Ser Uncertain significance Single submitter
- BPHL p.Tyr197Cys Uncertain significance Single submitter
- BPHL p.Val4Gly Uncertain significance Single submitter
- BPHL p.Val92Ala Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- BPHL p.Ala127Val Benign Single submitter
- BPHL p.Ala164Thr Uncertain significance Single submitter
- BPHL p.Ala166Thr Uncertain significance Single submitter
- BPHL p.Ala252Val Uncertain significance Single submitter
- BPHL p.Arg249Gln Uncertain significance Single submitter
- BPHL p.Arg249Trp Uncertain significance Single submitter
- BPHL p.Arg277Cys Uncertain significance Single submitter
- BPHL p.Asn223Ser Uncertain significance Single submitter
- BPHL p.Asn85Ser Uncertain significance Single submitter
- BPHL p.Asp106Asn Uncertain significance Single submitter
- BPHL p.Asp112Glu Uncertain significance Single submitter
- BPHL p.Gln291Pro Uncertain significance Single submitter
- BPHL p.Glu171Lys Uncertain significance Single submitter
- BPHL p.Glu177Gly Uncertain significance Single submitter
- BPHL p.Glu287Val Uncertain significance Single submitter
- BPHL p.Gly261Ala Uncertain significance Single submitter
- BPHL p.Leu146Phe Uncertain significance Single submitter
- BPHL p.Pro220Arg Uncertain significance Single submitter
- BPHL p.Ser134Cys Uncertain significance Single submitter
- BPHL p.Ser38Trp Uncertain significance Single submitter
- BPHL p.Tyr167His Uncertain significance Single submitter
- BPHL p.Tyr201Cys Uncertain significance Single submitter
All BPHL variants
Benign 1
- p.Ala127Val Single submitter ⚠
Likely benign 2
- p.Arg231Gln Single submitter
- p.Lys129= Single submitter
Uncertain significance 43
- p.Ala164Pro Single submitter ⚠
- p.Ala164Thr Single submitter ⚠
- p.Ala166Thr Single submitter ⚠
- p.Ala236Ser Single submitter ⚠
- p.Ala252Val Single submitter ⚠
- p.Ala34Ser Single submitter ⚠
- p.Arg12Cys Single submitter ⚠
- p.Arg12Leu Single submitter ⚠
- p.Arg226Gln Single submitter ⚠
- p.Arg249Gln Single submitter ⚠
- p.Arg249Trp Single submitter ⚠
- p.Arg277Cys Single submitter ⚠
- p.Asn223Ser Single submitter ⚠
- p.Asn85Ser Single submitter ⚠
- p.Asp106Asn Single submitter ⚠
- p.Asp112Glu Single submitter ⚠
- p.Gln291Pro Single submitter ⚠
- p.Glu171Lys Single submitter ⚠
- p.Glu177Gly Single submitter ⚠
- p.Glu287Val Single submitter ⚠
- p.Gly212Asp Single submitter ⚠
- p.Gly261Ala Single submitter ⚠
- p.Gly68Glu Single submitter ⚠
- p.His25Gln Single submitter ⚠
- p.Ile147Asn Single submitter ⚠
- p.Ile238Thr Single submitter ⚠
- p.Leu146Phe Single submitter ⚠
- p.Lys151Arg Single submitter ⚠
- p.Lys151Glu Single submitter ⚠
- p.Phe114Ser Single submitter ⚠
- p.Pro220Arg Single submitter ⚠
- p.Pro31Arg Single submitter ⚠
- p.Pro96Ser Single submitter ⚠
- p.Ser134Cys Single submitter ⚠
- p.Ser173Gly Single submitter ⚠
- p.Ser38Trp Single submitter ⚠
- p.Ser72Asn Single submitter ⚠
- p.Thr169Ser Single submitter ⚠
- p.Tyr167His Single submitter ⚠
- p.Tyr197Cys Single submitter ⚠
- p.Tyr201Cys Single submitter ⚠
- p.Val4Gly Single submitter ⚠
- p.Val92Ala Single submitter ⚠