BTF3L4 — 11 ClinVar variants
All ClinVar germline BTF3L4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
11 Uncertain significance
Full BTF3L4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTF3L4 p.Ala129Val Uncertain significance Single submitter
- BTF3L4 p.Arg14Trp Uncertain significance Single submitter
- BTF3L4 p.Arg22His Uncertain significance Single submitter
- BTF3L4 p.Gln40Arg Uncertain significance Single submitter
- BTF3L4 p.Ile67Thr Uncertain significance Single submitter
- BTF3L4 p.Pro132Ala Uncertain significance Single submitter
- BTF3L4 p.Thr86Ile Uncertain significance Single submitter
- BTF3L4 p.Val13Phe Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All BTF3L4 variants
Uncertain significance 11
- p.Ala129Val Single submitter ⚠
- p.Ala7Thr Single submitter ⚠
- p.Arg122Leu Single submitter ⚠
- p.Arg122Trp Single submitter
- p.Arg14Trp Single submitter ⚠
- p.Arg22His Single submitter ⚠
- p.Gln40Arg Single submitter ⚠
- p.Ile67Thr Single submitter ⚠
- p.Pro132Ala Single submitter ⚠
- p.Thr86Ile Single submitter ⚠
- p.Val13Phe Single submitter ⚠