BFAR — 62 ClinVar variants
All ClinVar germline BFAR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
1 Benign · 1 Likely benign · 60 Uncertain significance
Full BFAR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BFAR p.Ala156Val Uncertain significance Single submitter
- BFAR p.Ala238Thr Uncertain significance Single submitter
- BFAR p.Ala238Val Uncertain significance Single submitter
- BFAR p.Ala90Val Uncertain significance Single submitter
- BFAR p.Ala98Thr Uncertain significance Single submitter
- BFAR p.Arg135Pro Uncertain significance Single submitter
- BFAR p.Arg55His Uncertain significance Single submitter
- BFAR p.Asn137Ser Uncertain significance Single submitter
- BFAR p.Asp125His Uncertain significance Single submitter
- BFAR p.Asp172His Uncertain significance Single submitter
- BFAR p.Asp290Glu Uncertain significance Single submitter
- BFAR p.Asp293Asn Uncertain significance Single submitter
- BFAR p.Asp39Asn Uncertain significance Single submitter
- BFAR p.Cys34Tyr Uncertain significance Single submitter
- BFAR p.Glu259Gly Uncertain significance Single submitter
- BFAR p.His171Tyr Uncertain significance Single submitter
- BFAR p.Ile106Val Uncertain significance Single submitter
- BFAR p.Ile230Val Uncertain significance Single submitter
- BFAR p.Ile299Met Uncertain significance Single submitter
- BFAR p.Ile314Val Uncertain significance Single submitter
- BFAR p.Ile433Thr Uncertain significance Single submitter
- BFAR p.Ile99Met Uncertain significance Single submitter
- BFAR p.Ile99Val Uncertain significance Single submitter
- BFAR p.Leu116Pro Uncertain significance Single submitter
- BFAR p.Leu272Pro Uncertain significance Single submitter
- BFAR p.Lys181Thr Uncertain significance Single submitter
- BFAR p.Lys335Thr Uncertain significance Single submitter
- BFAR p.Met12Val Uncertain significance Single submitter
- BFAR p.Phe406Leu Uncertain significance Single submitter
- BFAR p.Pro128Ser Uncertain significance Single submitter
- BFAR p.Pro131Ala Uncertain significance Single submitter
- BFAR p.Pro19Leu Uncertain significance Single submitter
- BFAR p.Ser337Cys Uncertain significance Single submitter
- BFAR p.Ser382Leu Uncertain significance Single submitter
- BFAR p.Thr292Ala Uncertain significance Single submitter
- BFAR p.Thr45Ile Uncertain significance Single submitter
- BFAR p.Trp329Arg Uncertain significance Single submitter
- BFAR p.Val246Ile Uncertain significance Single submitter
- BFAR p.Val9Ala Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- BFAR p.Arg245His Benign Multiple submitters
- BFAR p.Ala59Val Uncertain significance Single submitter
- BFAR p.Arg245Cys Uncertain significance Single submitter
- BFAR p.Arg443Trp Uncertain significance Single submitter
- BFAR p.Cys421Tyr Uncertain significance Single submitter
- BFAR p.Gly143Ala Uncertain significance Single submitter
- BFAR p.Lys177Asn Uncertain significance Single submitter
- BFAR p.Phe95Leu Uncertain significance Single submitter
- BFAR p.Pro253Arg Uncertain significance Single submitter
- BFAR p.Pro253His Uncertain significance Single submitter
- BFAR p.Pro253Leu Uncertain significance Single submitter
- BFAR p.Pro297Ser Uncertain significance Single submitter
- BFAR p.Pro304Leu Uncertain significance Single submitter
- BFAR p.Pro96Ser Uncertain significance Single submitter
- BFAR p.Ser376Phe Uncertain significance Single submitter
- BFAR p.Ser65Leu Uncertain significance Single submitter
- BFAR p.Thr325Met Uncertain significance Single submitter
- BFAR p.Trp351Arg Uncertain significance Single submitter
- BFAR p.Trp381Cys Uncertain significance Single submitter
- BFAR p.Tyr122Cys Uncertain significance Single submitter
- BFAR p.Tyr228Cys Uncertain significance Single submitter
- BFAR p.Val210Leu Uncertain significance Single submitter
All BFAR variants
Benign 1
- p.Arg245His Multiple submitters ⚠
Likely benign 1
- p.Gly24Ser Single submitter
Uncertain significance 60
- p.Ala156Val Single submitter ⚠
- p.Ala238Thr Single submitter ⚠
- p.Ala238Val Single submitter ⚠
- p.Ala59Val Single submitter ⚠
- p.Ala90Val Single submitter ⚠
- p.Ala98Thr Single submitter ⚠
- p.Arg135Pro Single submitter ⚠
- p.Arg245Cys Single submitter ⚠
- p.Arg443Trp Single submitter ⚠
- p.Arg55His Single submitter ⚠
- p.Asn137Ser Single submitter ⚠
- p.Asp125His Single submitter ⚠
- p.Asp172His Single submitter ⚠
- p.Asp290Glu Single submitter ⚠
- p.Asp293Asn Single submitter ⚠
- p.Asp39Asn Single submitter ⚠
- p.Cys34Tyr Single submitter ⚠
- p.Cys421Tyr Single submitter ⚠
- p.Glu259Gly Single submitter ⚠
- p.Gly143Ala Single submitter ⚠
- p.His171Tyr Single submitter ⚠
- p.Ile106Val Single submitter ⚠
- p.Ile230Val Single submitter ⚠
- p.Ile299Met Single submitter ⚠
- p.Ile314Val Single submitter ⚠
- p.Ile433Thr Single submitter ⚠
- p.Ile99Met Single submitter ⚠
- p.Ile99Val Single submitter ⚠
- p.Leu116Pro Single submitter ⚠
- p.Leu272Pro Single submitter ⚠
- p.Lys177Asn Single submitter ⚠
- p.Lys181Thr Single submitter ⚠
- p.Lys335Thr Single submitter ⚠
- p.Met12Val Single submitter ⚠
- p.Phe406Leu Single submitter ⚠
- p.Phe95Leu Single submitter ⚠
- p.Pro128Ser Single submitter ⚠
- p.Pro131Ala Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro253Arg Single submitter ⚠
- p.Pro253His Single submitter ⚠
- p.Pro253Leu Single submitter ⚠
- p.Pro297Ser Single submitter ⚠
- p.Pro304Leu Single submitter ⚠
- p.Pro96Ser Single submitter ⚠
- p.Ser337Cys Single submitter ⚠
- p.Ser376Phe Single submitter ⚠
- p.Ser382Leu Single submitter ⚠
- p.Ser65Leu Single submitter ⚠
- p.Thr292Ala Single submitter ⚠
- p.Thr325Met Single submitter ⚠
- p.Thr45Ile Single submitter ⚠
- p.Trp329Arg Single submitter ⚠
- p.Trp351Arg Single submitter ⚠
- p.Trp381Cys Single submitter ⚠
- p.Tyr122Cys Single submitter ⚠
- p.Tyr228Cys Single submitter ⚠
- p.Val210Leu Single submitter ⚠
- p.Val246Ile Single submitter ⚠
- p.Val9Ala Single submitter ⚠