ATXN3L — 41 ClinVar variants
All ClinVar germline ATXN3L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
2 Conflicting · 5 Likely benign · 34 Uncertain significance
Full ATXN3L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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.
- ATXN3L p.Ala153Val Uncertain significance Single submitter
- ATXN3L p.Ala232Val Uncertain significance Single submitter
- ATXN3L p.Arg237Cys Uncertain significance Single submitter
- ATXN3L p.Arg242Ile Uncertain significance Single submitter
- ATXN3L p.Gln100Glu Uncertain significance Single submitter
- ATXN3L p.Gln176His Uncertain significance Single submitter
- ATXN3L p.Glu184Lys Uncertain significance Single submitter
- ATXN3L p.Glu26Lys Uncertain significance Single submitter
- ATXN3L p.Glu42Gln Uncertain significance Single submitter
- ATXN3L p.Glu50Gly Uncertain significance Single submitter
- ATXN3L p.Glu67Gly Uncertain significance Single submitter
- ATXN3L p.Gly103Ser Uncertain significance Single submitter
- ATXN3L p.Gly73Cys Uncertain significance Single submitter
- ATXN3L p.Gly73Ser Uncertain significance Single submitter
- ATXN3L p.His202Gln Uncertain significance Single submitter
- ATXN3L p.His311Gln Uncertain significance Single submitter
- ATXN3L p.Met186Thr Uncertain significance Single submitter
- ATXN3L p.Pro189Ser Uncertain significance Single submitter
- ATXN3L p.Pro279Ser Uncertain significance Single submitter
- ATXN3L p.Ser135Phe Uncertain significance Single submitter
- ATXN3L p.Ser263Leu Uncertain significance Single submitter
- ATXN3L p.Ser317Arg Uncertain significance Single submitter
- ATXN3L p.Thr122Ala Uncertain significance Single submitter
- ATXN3L p.Thr221Ile Uncertain significance Single submitter
- ATXN3L p.Val183Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- ATXN3L p.Ala174Gly Uncertain significance Single submitter
- ATXN3L p.Gln16Arg Uncertain significance Single submitter
- ATXN3L p.His38Pro Uncertain significance Single submitter
- ATXN3L p.Leu13Val Uncertain significance Single submitter
- ATXN3L p.Leu169Pro Uncertain significance Single submitter
- ATXN3L p.Phe121Leu Uncertain significance Single submitter
- ATXN3L p.Pro170Ser Uncertain significance Single submitter
- ATXN3L p.Pro65His Uncertain significance Single submitter
- ATXN3L p.Ser111Phe Uncertain significance Single submitter
All ATXN3L variants
Conflicting classifications of pathogenicity 2
- p.Met255Val Single submitter ⚠
- p.Thr316Ile Single submitter ⚠
Likely benign 5
- p.Arg154Gln Single submitter
- p.Gly260Arg Single submitter
- p.Thr316del Single submitter
- p.Val208Ile Single submitter
- p.Lys289Ter No assertion criteria intellectual disability
Uncertain significance 34
- p.Ala153Val Single submitter ⚠
- p.Ala174Gly Single submitter ⚠
- p.Ala232Val Single submitter ⚠
- p.Arg237Cys Single submitter ⚠
- p.Arg242Ile Single submitter ⚠
- p.Gln100Glu Single submitter ⚠
- p.Gln16Arg Single submitter ⚠
- p.Gln176His Single submitter ⚠
- p.Glu184Lys Single submitter ⚠
- p.Glu26Lys Single submitter ⚠
- p.Glu42Gln Single submitter ⚠
- p.Glu50Gly Single submitter ⚠
- p.Glu67Gly Single submitter ⚠
- p.Gly103Ser Single submitter ⚠
- p.Gly73Cys Single submitter ⚠
- p.Gly73Ser Single submitter ⚠
- p.His202Gln Single submitter ⚠
- p.His311Gln Single submitter ⚠
- p.His38Pro Single submitter ⚠
- p.Leu13Val Single submitter ⚠
- p.Leu169Pro Single submitter ⚠
- p.Met186Thr Single submitter ⚠
- p.Phe121Leu Single submitter ⚠
- p.Pro170Ser Single submitter ⚠
- p.Pro189Ser Single submitter ⚠
- p.Pro279Ser Single submitter ⚠
- p.Pro65His Single submitter ⚠
- p.Ser111Phe Single submitter ⚠
- p.Ser135Phe Single submitter ⚠
- p.Ser263Leu Single submitter ⚠
- p.Ser317Arg Single submitter ⚠
- p.Thr122Ala Single submitter ⚠
- p.Thr221Ile Single submitter ⚠
- p.Val183Ala Single submitter ⚠