BLZF1 — 47 ClinVar variants
All ClinVar germline BLZF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
3 Likely benign · 44 Uncertain significance
Full BLZF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BLZF1 p.Ala305Val Uncertain significance Single submitter
- BLZF1 p.Ala54Val Uncertain significance Single submitter
- BLZF1 p.Arg152His Uncertain significance Single submitter
- BLZF1 p.Arg152Leu Uncertain significance Single submitter
- BLZF1 p.Arg182His Uncertain significance Single submitter
- BLZF1 p.Asn120Asp Uncertain significance Single submitter
- BLZF1 p.Asn128Ser Uncertain significance Single submitter
- BLZF1 p.Asn191Asp Uncertain significance Single submitter
- BLZF1 p.Asn391Ser Uncertain significance Single submitter
- BLZF1 p.Asn94Lys Uncertain significance Single submitter
- BLZF1 p.Asp355His Uncertain significance Single submitter
- BLZF1 p.Gln186Glu Uncertain significance Single submitter
- BLZF1 p.Glu125Lys Uncertain significance Single submitter
- BLZF1 p.Glu71Lys Uncertain significance Single submitter
- BLZF1 p.Leu400Ile Uncertain significance Single submitter
- BLZF1 p.Leu400Phe Uncertain significance Single submitter
- BLZF1 p.Lys266Glu Uncertain significance Single submitter
- BLZF1 p.Lys320Glu Uncertain significance Single submitter
- BLZF1 p.Lys67Glu Uncertain significance Single submitter
- BLZF1 p.Met74Leu Uncertain significance Single submitter
- BLZF1 p.Met74Thr Uncertain significance Single submitter
- BLZF1 p.Pro93His Uncertain significance Single submitter
- BLZF1 p.Ser14Leu Uncertain significance Single submitter
- BLZF1 p.Thr348Asn Uncertain significance Single submitter
- BLZF1 p.Val12Asp Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- BLZF1 p.Ser101Tyr Likely benign Multiple submitters
- BLZF1 p.Arg179Cys Uncertain significance Single submitter
- BLZF1 p.Arg179His Uncertain significance Single submitter
- BLZF1 p.Arg207His Uncertain significance Single submitter
- BLZF1 p.Arg238Cys Uncertain significance Single submitter
- BLZF1 p.Arg254Trp Uncertain significance Single submitter
- BLZF1 p.Arg258Cys Uncertain significance Single submitter
- BLZF1 p.Gln174His Uncertain significance Single submitter
- BLZF1 p.Gln211Arg Uncertain significance Single submitter
- BLZF1 p.Glu122Lys Uncertain significance Single submitter
- BLZF1 p.Leu151Phe Uncertain significance Single submitter
- BLZF1 p.Met336Ile Uncertain significance Single submitter
- BLZF1 p.Pro285Leu Uncertain significance Single submitter
- BLZF1 p.Ser101Phe Uncertain significance Single submitter
- BLZF1 p.Ser291Arg Uncertain significance Single submitter
- BLZF1 p.Ser49Arg Uncertain significance Single submitter
- BLZF1 p.Thr264Ala Uncertain significance Single submitter
- BLZF1 p.Trp277Arg Uncertain significance Single submitter
- BLZF1 p.Val224Ile Uncertain significance Single submitter
- BLZF1 p.Val340Ala Uncertain significance Single submitter
All BLZF1 variants
Likely benign 3
- p.Ser101Tyr Multiple submitters ⚠
- p.Arg394Gln Single submitter
- p.Ile17Val Single submitter
Uncertain significance 44
- p.Ala305Val Single submitter ⚠
- p.Ala54Val Single submitter ⚠
- p.Arg152His Single submitter ⚠
- p.Arg152Leu Single submitter ⚠
- p.Arg179Cys Single submitter ⚠
- p.Arg179His Single submitter ⚠
- p.Arg182His Single submitter ⚠
- p.Arg207His Single submitter ⚠
- p.Arg238Cys Single submitter ⚠
- p.Arg254Trp Single submitter ⚠
- p.Arg258Cys Single submitter ⚠
- p.Asn120Asp Single submitter ⚠
- p.Asn128Ser Single submitter ⚠
- p.Asn191Asp Single submitter ⚠
- p.Asn391Ser Single submitter ⚠
- p.Asn94Lys Single submitter ⚠
- p.Asp355His Single submitter ⚠
- p.Gln174His Single submitter ⚠
- p.Gln186Glu Single submitter ⚠
- p.Gln211Arg Single submitter ⚠
- p.Glu122Lys Single submitter ⚠
- p.Glu125Lys Single submitter ⚠
- p.Glu71Lys Single submitter ⚠
- p.Leu151Phe Single submitter ⚠
- p.Leu400Ile Single submitter ⚠
- p.Leu400Phe Single submitter ⚠
- p.Lys266Glu Single submitter ⚠
- p.Lys320Glu Single submitter ⚠
- p.Lys67Glu Single submitter ⚠
- p.Met336Ile Single submitter ⚠
- p.Met74Leu Single submitter ⚠
- p.Met74Thr Single submitter ⚠
- p.Pro285Leu Single submitter ⚠
- p.Pro93His Single submitter ⚠
- p.Ser101Phe Single submitter ⚠
- p.Ser14Leu Single submitter ⚠
- p.Ser291Arg Single submitter ⚠
- p.Ser49Arg Single submitter ⚠
- p.Thr264Ala Single submitter ⚠
- p.Thr348Asn Single submitter ⚠
- p.Trp277Arg Single submitter ⚠
- p.Val12Asp Single submitter ⚠
- p.Val224Ile Single submitter ⚠
- p.Val340Ala Single submitter ⚠