ATXN7L3B — 15 ClinVar variants
All ClinVar germline ATXN7L3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
15 Uncertain significance
Full ATXN7L3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATXN7L3B p.Arg71Cys Uncertain significance Single submitter
- ATXN7L3B p.Arg91Cys Uncertain significance Single submitter
- ATXN7L3B p.Asn8Thr Uncertain significance Single submitter
- ATXN7L3B p.Asp66Gly Uncertain significance Single submitter
- ATXN7L3B p.Gln90His Uncertain significance Single submitter
- ATXN7L3B p.Gly84Arg Uncertain significance Single submitter
- ATXN7L3B p.Gly84Glu Uncertain significance Single submitter
- ATXN7L3B p.Ile61Phe Uncertain significance Single submitter
- ATXN7L3B p.Pro73Gln Uncertain significance Single submitter
- ATXN7L3B p.Pro78Ser Uncertain significance Single submitter
- ATXN7L3B p.Pro81Arg Uncertain significance Single submitter
- ATXN7L3B p.Pro81Thr Uncertain significance Single submitter
- ATXN7L3B p.Tyr45His Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All ATXN7L3B variants
Uncertain significance 15
- p.Arg71Cys Single submitter ⚠
- p.Arg91Cys Single submitter ⚠
- p.Asn8Thr Single submitter ⚠
- p.Asp10Ala Single submitter ⚠
- p.Asp66Gly Single submitter ⚠
- p.Gln90His Single submitter ⚠
- p.Gly84Arg Single submitter ⚠
- p.Gly84Glu Single submitter ⚠
- p.Ile61Phe Single submitter ⚠
- p.Leu9Val Single submitter ⚠
- p.Pro73Gln Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Pro81Arg Single submitter ⚠
- p.Pro81Thr Single submitter ⚠
- p.Tyr45His Single submitter ⚠