BTF3 — 14 ClinVar variants
All ClinVar germline BTF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
14 Uncertain significance
Full BTF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTF3 p.Ala156Val Uncertain significance Single submitter
- BTF3 p.Arg71Cys Uncertain significance Single submitter
- BTF3 p.Asp185Glu Uncertain significance Single submitter
- BTF3 p.Gly24Glu Uncertain significance Single submitter
- BTF3 p.His137Leu Uncertain significance Single submitter
- BTF3 p.Leu143Pro Uncertain significance Single submitter
- BTF3 p.Met108Val Uncertain significance Single submitter
- BTF3 p.Pro23Thr Uncertain significance Single submitter
- BTF3 p.Thr28Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All BTF3 variants
Uncertain significance 14
- p.Ala156Val Single submitter ⚠
- p.Arg13Trp Single submitter ⚠
- p.Arg71Cys Single submitter ⚠
- p.Asp185Glu Single submitter ⚠
- p.Gln59Arg Single submitter ⚠
- p.Gly183Arg Single submitter ⚠
- p.Gly24Glu Single submitter ⚠
- p.His137Leu Single submitter ⚠
- p.Leu143Pro Single submitter ⚠
- p.Lys67Arg Single submitter ⚠
- p.Met108Val Single submitter ⚠
- p.Pro23Thr Single submitter ⚠
- p.Thr28Ala Single submitter ⚠
- p.Thr80Ala Single submitter ⚠