ATXN7L2 — 106 ClinVar variants
All ClinVar germline ATXN7L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →
4 Likely benign · 102 Uncertain significance
Full ATXN7L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 103
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATXN7L2 p.Ala218Val Uncertain significance Single submitter
- ATXN7L2 p.Ala367Thr Uncertain significance Single submitter
- ATXN7L2 p.Ala40Pro Uncertain significance Single submitter
- ATXN7L2 p.Ala543Thr Uncertain significance Single submitter
- ATXN7L2 p.Ala656Val Uncertain significance Single submitter
- ATXN7L2 p.Ala674Thr Uncertain significance Single submitter
- ATXN7L2 p.Ala723Thr Uncertain significance Single submitter
- ATXN7L2 p.Ala728Val Uncertain significance Single submitter
- ATXN7L2 p.Arg154Gln Uncertain significance Single submitter
- ATXN7L2 p.Arg156His Uncertain significance Single submitter
- ATXN7L2 p.Arg341Leu Uncertain significance Single submitter
- ATXN7L2 p.Arg408Trp Uncertain significance Single submitter
- ATXN7L2 p.Arg438Gln Uncertain significance Single submitter
- ATXN7L2 p.Arg441Gln Uncertain significance Single submitter
- ATXN7L2 p.Arg463Gln Uncertain significance Single submitter
- ATXN7L2 p.Arg652Lys Uncertain significance Single submitter
- ATXN7L2 p.Arg662His Uncertain significance Single submitter
- ATXN7L2 p.Arg733Gly Uncertain significance Single submitter
- ATXN7L2 p.Asn693Ser Uncertain significance Single submitter
- ATXN7L2 p.Asp37Val Uncertain significance Single submitter
- ATXN7L2 p.Glu231Lys Uncertain significance Single submitter
- ATXN7L2 p.Glu340Lys Uncertain significance Single submitter
- ATXN7L2 p.Gly157Val Uncertain significance Single submitter
- ATXN7L2 p.Gly391Asp Uncertain significance Single submitter
- ATXN7L2 p.Gly397Glu Uncertain significance Single submitter
- ATXN7L2 p.Gly409Arg Uncertain significance Single submitter
- ATXN7L2 p.Gly409Val Uncertain significance Single submitter
- ATXN7L2 p.Gly422Glu Uncertain significance Single submitter
- ATXN7L2 p.Gly544Ala Uncertain significance Single submitter
- ATXN7L2 p.Gly623Arg Uncertain significance Single submitter
- ATXN7L2 p.Gly650Val Uncertain significance Single submitter
- ATXN7L2 p.Gly681Val Uncertain significance Single submitter
- ATXN7L2 p.Gly684Arg Uncertain significance Single submitter
- ATXN7L2 p.Gly684Val Uncertain significance Single submitter
- ATXN7L2 p.His434Arg Uncertain significance Single submitter
- ATXN7L2 p.Leu207Arg Uncertain significance Single submitter
- ATXN7L2 p.Leu271Arg Uncertain significance Single submitter
- ATXN7L2 p.Leu38Arg Uncertain significance Single submitter
- ATXN7L2 p.Leu659Gln Uncertain significance Single submitter
- ATXN7L2 p.Lys605Arg Uncertain significance Single submitter
- ATXN7L2 p.Lys673Arg Uncertain significance Single submitter
- ATXN7L2 p.Lys734Arg Uncertain significance Single submitter
- ATXN7L2 p.Met649Leu Uncertain significance Single submitter
- ATXN7L2 p.Met649Thr Uncertain significance Single submitter
- ATXN7L2 p.Phe310Val Uncertain significance Single submitter
- ATXN7L2 p.Pro219Ser Uncertain significance Single submitter
- ATXN7L2 p.Pro234Leu Uncertain significance Single submitter
- ATXN7L2 p.Pro405Arg Uncertain significance Single submitter
- ATXN7L2 p.Pro429Ala Uncertain significance Single submitter
- ATXN7L2 p.Pro493Leu Uncertain significance Single submitter
- ATXN7L2 p.Pro501Arg Uncertain significance Single submitter
- ATXN7L2 p.Pro501Leu Uncertain significance Single submitter
- ATXN7L2 p.Pro581Leu Uncertain significance Single submitter
- ATXN7L2 p.Pro651Ser Uncertain significance Single submitter
- ATXN7L2 p.Pro658Thr Uncertain significance Single submitter
- ATXN7L2 p.Pro713Thr Uncertain significance Single submitter
- ATXN7L2 p.Ser553Thr Uncertain significance Single submitter
- ATXN7L2 p.Ser566Leu Uncertain significance Single submitter
- ATXN7L2 p.Ser747Pro Uncertain significance Single submitter
- ATXN7L2 p.Thr637Ala Uncertain significance Single submitter
- ATXN7L2 p.Val595Leu Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- ATXN7L2 p.Ala355Val Uncertain significance Single submitter
- ATXN7L2 p.Ala9Thr Uncertain significance Single submitter
- ATXN7L2 p.Ala9Val Uncertain significance Single submitter
- ATXN7L2 p.Arg112Trp Uncertain significance Single submitter
- ATXN7L2 p.Arg262Gln Uncertain significance Single submitter
- ATXN7L2 p.Arg262Trp Uncertain significance Single submitter
- ATXN7L2 p.Arg322Cys Uncertain significance Single submitter
- ATXN7L2 p.Arg322Leu Uncertain significance Single submitter
- ATXN7L2 p.Arg341Cys Uncertain significance Single submitter
- ATXN7L2 p.Arg462His Uncertain significance Single submitter
- ATXN7L2 p.Arg466Trp Uncertain significance Single submitter
- ATXN7L2 p.Arg662Cys Uncertain significance Single submitter
- ATXN7L2 p.Arg6Leu Uncertain significance Single submitter
- ATXN7L2 p.Arg732Cys Uncertain significance Single submitter
- ATXN7L2 p.Arg732His Uncertain significance Single submitter
- ATXN7L2 p.Arg733Cys Uncertain significance Single submitter
- ATXN7L2 p.Cys557Arg Uncertain significance Single submitter
- ATXN7L2 p.Cys630Tyr Uncertain significance Single submitter
- ATXN7L2 p.Cys72Phe Uncertain significance Single submitter
- ATXN7L2 p.Glu34Lys Uncertain significance Single submitter
- ATXN7L2 p.His298Asn Uncertain significance Single submitter
- ATXN7L2 p.Leu109Val Uncertain significance Single submitter
- ATXN7L2 p.Leu502Ile Uncertain significance Single submitter
- ATXN7L2 p.Lys283Glu Uncertain significance Single submitter
- ATXN7L2 p.Lys97Arg Uncertain significance Single submitter
- ATXN7L2 p.Pro19Leu Uncertain significance Single submitter
- ATXN7L2 p.Pro532His Uncertain significance Single submitter
- ATXN7L2 p.Pro575Leu Uncertain significance Single submitter
- ATXN7L2 p.Pro627His Uncertain significance Single submitter
- ATXN7L2 p.Ser30Arg Uncertain significance Single submitter
- ATXN7L2 p.Ser348Phe Uncertain significance Single submitter
- ATXN7L2 p.Ser382Ala Uncertain significance Single submitter
- ATXN7L2 p.Ser500Phe Uncertain significance Single submitter
- ATXN7L2 p.Ser589Phe Uncertain significance Single submitter
- ATXN7L2 p.Ser730Phe Uncertain significance Single submitter
- ATXN7L2 p.Ser747Cys Uncertain significance Single submitter
- ATXN7L2 p.Thr142Met Uncertain significance Single submitter
- ATXN7L2 p.Thr53Met Likely benign Single submitter
- ATXN7L2 p.Thr60Ile Uncertain significance Single submitter
- ATXN7L2 p.Thr692Ile Uncertain significance Single submitter
- ATXN7L2 p.Val312Met Uncertain significance Single submitter
- ATXN7L2 p.Val3Met Uncertain significance Single submitter
All ATXN7L2 variants
Likely benign 4
- p.Asn499Ser Single submitter
- p.Pro429Leu Single submitter
- p.Thr513Ser Single submitter
- p.Thr53Met Single submitter ⚠
Uncertain significance 102
- p.Ala218Val Single submitter ⚠
- p.Ala355Val Single submitter ⚠
- p.Ala367Thr Single submitter ⚠
- p.Ala40Pro Single submitter ⚠
- p.Ala543Thr Single submitter ⚠
- p.Ala656Val Single submitter ⚠
- p.Ala674Thr Single submitter ⚠
- p.Ala723Thr Single submitter ⚠
- p.Ala728Val Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Ala9Val Single submitter ⚠
- p.Arg112Trp Single submitter ⚠
- p.Arg154Gln Single submitter ⚠
- p.Arg156His Single submitter ⚠
- p.Arg262Gln Single submitter ⚠
- p.Arg262Trp Single submitter ⚠
- p.Arg322Cys Single submitter ⚠
- p.Arg322Leu Single submitter ⚠
- p.Arg341Cys Single submitter ⚠
- p.Arg341Leu Single submitter ⚠
- p.Arg408Trp Single submitter ⚠
- p.Arg438Gln Single submitter ⚠
- p.Arg441Gln Single submitter ⚠
- p.Arg462His Single submitter ⚠
- p.Arg463Gln Single submitter ⚠
- p.Arg466Trp Single submitter ⚠
- p.Arg652Lys Single submitter ⚠
- p.Arg662Cys Single submitter ⚠
- p.Arg662His Single submitter ⚠
- p.Arg6Leu Single submitter ⚠
- p.Arg732Cys Single submitter ⚠
- p.Arg732His Single submitter ⚠
- p.Arg733Cys Single submitter ⚠
- p.Arg733Gly Single submitter ⚠
- p.Asn693Ser Single submitter ⚠
- p.Asp37Val Single submitter ⚠
- p.Cys557Arg Single submitter ⚠
- p.Cys630Tyr Single submitter ⚠
- p.Cys72Phe Single submitter ⚠
- p.Glu231Lys Single submitter ⚠
- p.Glu340Lys Single submitter ⚠
- p.Glu34Lys Single submitter ⚠
- p.Gly157Val Single submitter ⚠
- p.Gly391Asp Single submitter ⚠
- p.Gly397Glu Single submitter ⚠
- p.Gly409Arg Single submitter ⚠
- p.Gly409Val Single submitter ⚠
- p.Gly422Glu Single submitter ⚠
- p.Gly544Ala Single submitter ⚠
- p.Gly623Arg Single submitter ⚠
- p.Gly650Val Single submitter ⚠
- p.Gly681Val Single submitter ⚠
- p.Gly684Arg Single submitter ⚠
- p.Gly684Val Single submitter ⚠
- p.His298Asn Single submitter ⚠
- p.His434Arg Single submitter ⚠
- p.Leu109Val Single submitter ⚠
- p.Leu207Arg Single submitter ⚠
- p.Leu271Arg Single submitter ⚠
- p.Leu38Arg Single submitter ⚠
- p.Leu502Ile Single submitter ⚠
- p.Leu659Gln Single submitter ⚠
- p.Lys283Glu Single submitter ⚠
- p.Lys605Arg Single submitter ⚠
- p.Lys673Arg Single submitter ⚠
- p.Lys734Arg Single submitter ⚠
- p.Lys97Arg Single submitter ⚠
- p.Met649Leu Single submitter ⚠
- p.Met649Thr Single submitter ⚠
- p.Phe310Val Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro219Ser Single submitter ⚠
- p.Pro234Leu Single submitter ⚠
- p.Pro405Arg Single submitter ⚠
- p.Pro429Ala Single submitter ⚠
- p.Pro493Leu Single submitter ⚠
- p.Pro501Arg Single submitter ⚠
- p.Pro501Leu Single submitter ⚠
- p.Pro532His Single submitter ⚠
- p.Pro575Leu Single submitter ⚠
- p.Pro581Leu Single submitter ⚠
- p.Pro627His Single submitter ⚠
- p.Pro651Ser Single submitter ⚠
- p.Pro658Thr Single submitter ⚠
- p.Pro713Thr Single submitter ⚠
- p.Ser30Arg Single submitter ⚠
- p.Ser348Phe Single submitter ⚠
- p.Ser382Ala Single submitter ⚠
- p.Ser500Phe Single submitter ⚠
- p.Ser553Thr Single submitter ⚠
- p.Ser566Leu Single submitter ⚠
- p.Ser589Phe Single submitter ⚠
- p.Ser730Phe Single submitter ⚠
- p.Ser747Cys Single submitter ⚠
- p.Ser747Pro Single submitter ⚠
- p.Thr142Met Single submitter ⚠
- p.Thr60Ile Single submitter ⚠
- p.Thr637Ala Single submitter ⚠
- p.Thr692Ile Single submitter ⚠
- p.Val312Met Single submitter ⚠
- p.Val3Met Single submitter ⚠
- p.Val595Leu Single submitter ⚠