ATXN2L — 149 ClinVar variants
All ClinVar germline ATXN2L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 137 flagged for review →
1 Conflicting · 3 Benign · 4 Likely benign · 141 Uncertain significance
Full ATXN2L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 137
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 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATXN2L p.Ala1004Thr Uncertain significance Single submitter
- ATXN2L p.Ala1004Val Uncertain significance Single submitter
- ATXN2L p.Ala495Gly Uncertain significance Single submitter
- ATXN2L p.Ala93Thr Uncertain significance Single submitter
- ATXN2L p.Ala99Thr Uncertain significance Single submitter
- ATXN2L p.Arg1045Gly Uncertain significance Single submitter
- ATXN2L p.Arg337Gln Uncertain significance Single submitter
- ATXN2L p.Asn35Asp Uncertain significance Single submitter
- ATXN2L p.Asn662His Uncertain significance Single submitter
- ATXN2L p.Asn959Ser Uncertain significance Single submitter
- ATXN2L p.Asp388Asn Uncertain significance Single submitter
- ATXN2L p.Gln1031His Uncertain significance Single submitter
- ATXN2L p.Glu232Asp Uncertain significance Single submitter
- ATXN2L p.Glu293Gln Uncertain significance Single submitter
- ATXN2L p.Glu619Gly Uncertain significance Single submitter
- ATXN2L p.Gly1040Glu Uncertain significance Single submitter
- ATXN2L p.Gly30Ala Uncertain significance Single submitter
- ATXN2L p.Gly36Ser Uncertain significance Single submitter
- ATXN2L p.Gly372Ser Uncertain significance Single submitter
- ATXN2L p.Gly468Ser Uncertain significance Single submitter
- ATXN2L p.Gly686Val Uncertain significance Single submitter
- ATXN2L p.Gly720Ala Uncertain significance Single submitter
- ATXN2L p.Gly739Ala Uncertain significance Single submitter
- ATXN2L p.Gly75Ser Uncertain significance Single submitter
- ATXN2L p.Gly956Ser Uncertain significance Single submitter
- ATXN2L p.Gly97Val Uncertain significance Single submitter
- ATXN2L p.His869Arg Uncertain significance Single submitter
- ATXN2L p.Ile313Val Uncertain significance Single submitter
- ATXN2L p.Ile458Leu Uncertain significance Single submitter
- ATXN2L p.Ile492Val Uncertain significance Single submitter
- ATXN2L p.Ile640Val Uncertain significance Single submitter
- ATXN2L p.Ile711Met Uncertain significance Single submitter
- ATXN2L p.Ile717Met Uncertain significance Single submitter
- ATXN2L p.Leu59Val Uncertain significance Single submitter
- ATXN2L p.Leu868Phe Uncertain significance Single submitter
- ATXN2L p.Lys207Arg Uncertain significance Single submitter
- ATXN2L p.Lys258Arg Uncertain significance Single submitter
- ATXN2L p.Lys326Asn Uncertain significance Single submitter
- ATXN2L p.Lys609Arg Uncertain significance Single submitter
- ATXN2L p.Lys609Thr Uncertain significance Single submitter
- ATXN2L p.Met215Ile Uncertain significance Single submitter
-
ATXN2L p.Met315Thr
Uncertain significance
Single submitter
Marfanoid habitus and intellectual disability
- ATXN2L p.Met817Leu Uncertain significance Single submitter
- ATXN2L p.Pro1011Thr Uncertain significance Single submitter
- ATXN2L p.Pro1018Ser Uncertain significance Single submitter
- ATXN2L p.Pro27Leu Uncertain significance Single submitter
- ATXN2L p.Pro27Ser Uncertain significance Single submitter
- ATXN2L p.Pro374Ser Uncertain significance Single submitter
- ATXN2L p.Pro472Ser Uncertain significance Single submitter
- ATXN2L p.Pro494Leu Uncertain significance Single submitter
- ATXN2L p.Pro497Ser Uncertain significance Single submitter
- ATXN2L p.Pro514Arg Uncertain significance Single submitter
- ATXN2L p.Pro595Ser Uncertain significance Single submitter
- ATXN2L p.Pro636Leu Uncertain significance Single submitter
- ATXN2L p.Pro687Ser Uncertain significance Single submitter
- ATXN2L p.Pro721Ser Uncertain significance Single submitter
- ATXN2L p.Pro789Ser Uncertain significance Single submitter
- ATXN2L p.Pro79Ser Uncertain significance Single submitter
- ATXN2L p.Pro840Ser Uncertain significance Single submitter
- ATXN2L p.Pro843Thr Uncertain significance Single submitter
- ATXN2L p.Pro884Gln Uncertain significance Single submitter
- ATXN2L p.Ser424Leu Uncertain significance Single submitter
- ATXN2L p.Ser430Pro Uncertain significance Single submitter
- ATXN2L p.Ser434Ala Uncertain significance Single submitter
- ATXN2L p.Ser604Leu Uncertain significance Single submitter
- ATXN2L p.Ser634Gly Uncertain significance Single submitter
- ATXN2L p.Ser634Thr Uncertain significance Single submitter
- ATXN2L p.Ser67Gly Uncertain significance Single submitter
- ATXN2L p.Ser785Pro Uncertain significance Single submitter
- ATXN2L p.Thr143Ile Uncertain significance Single submitter
- ATXN2L p.Thr433Ile Uncertain significance Single submitter
- ATXN2L p.Thr669Ala Uncertain significance Single submitter
- ATXN2L p.Thr683Ala Uncertain significance Single submitter
- ATXN2L p.Thr826Met Uncertain significance Single submitter
- ATXN2L p.Thr877Ala Uncertain significance Single submitter
- ATXN2L p.Val117Ile Uncertain significance Single submitter
- ATXN2L p.Val193Ile Uncertain significance Single submitter
Predictors split 60
The independent predictors disagree with each other — read with care.
- ATXN2L p.Ala162Thr Uncertain significance Single submitter
- ATXN2L p.Ala329Val Uncertain significance Single submitter
- ATXN2L p.Ala898Val Uncertain significance Single submitter
- ATXN2L p.Arg165Trp Uncertain significance Single submitter
- ATXN2L p.Arg175Cys Uncertain significance Single submitter
- ATXN2L p.Arg176Trp Uncertain significance Single submitter
- ATXN2L p.Arg230Cys Uncertain significance Single submitter
- ATXN2L p.Arg230Leu Uncertain significance Single submitter
- ATXN2L p.Arg310His Uncertain significance Single submitter
- ATXN2L p.Arg355Gln Uncertain significance Single submitter
- ATXN2L p.Arg357Gln Uncertain significance Single submitter
- ATXN2L p.Arg357Trp Likely benign Single submitter
- ATXN2L p.Arg399His Uncertain significance Single submitter
- ATXN2L p.Arg443Trp Uncertain significance Single submitter
- ATXN2L p.Arg823His Uncertain significance Single submitter
- ATXN2L p.Asp239Asn Uncertain significance Single submitter
- ATXN2L p.Asp284Gly Uncertain significance Single submitter
- ATXN2L p.Asp584Tyr Uncertain significance Single submitter
- ATXN2L p.Gln1028Glu Uncertain significance Single submitter
- ATXN2L p.Gln413Arg Uncertain significance Single submitter
- ATXN2L p.Gln811Glu Uncertain significance Single submitter
- ATXN2L p.Gln8Lys Uncertain significance Single submitter
- ATXN2L p.Glu346Gln Uncertain significance Single submitter
- ATXN2L p.Glu346Val Uncertain significance Single submitter
- ATXN2L p.Gly107Arg Uncertain significance Single submitter
- ATXN2L p.Gly29Arg Uncertain significance Single submitter
- ATXN2L p.Gly30Cys Conflicting Single submitter
- ATXN2L p.Gly334Val Uncertain significance Single submitter
- ATXN2L p.Gly347Glu Uncertain significance Single submitter
- ATXN2L p.Gly37Asp Uncertain significance Single submitter
- ATXN2L p.Gly75Asp Uncertain significance Single submitter
- ATXN2L p.His87Tyr Uncertain significance Single submitter
- ATXN2L p.Leu38Phe Uncertain significance Single submitter
- ATXN2L p.Lys670Asn Uncertain significance Single submitter
- ATXN2L p.Met817Ile Uncertain significance Single submitter
- ATXN2L p.Pro1027Thr Uncertain significance Single submitter
- ATXN2L p.Pro10Ser Uncertain significance Single submitter
- ATXN2L p.Pro17Ser Uncertain significance Single submitter
- ATXN2L p.Pro18Thr Uncertain significance Single submitter
- ATXN2L p.Pro384Leu Uncertain significance Single submitter
- ATXN2L p.Pro753Leu Uncertain significance Single submitter
- ATXN2L p.Pro765Leu Uncertain significance Single submitter
- ATXN2L p.Pro776Ser Uncertain significance Single submitter
- ATXN2L p.Pro79Leu Uncertain significance Single submitter
- ATXN2L p.Pro81Ser Uncertain significance Single submitter
- ATXN2L p.Pro84Ser Uncertain significance Single submitter
- ATXN2L p.Pro891His Uncertain significance Single submitter
- ATXN2L p.Pro976Thr Uncertain significance Single submitter
- ATXN2L p.Ser121Cys Uncertain significance Single submitter
- ATXN2L p.Ser368Thr Uncertain significance Single submitter
- ATXN2L p.Ser377Thr Uncertain significance Single submitter
- ATXN2L p.Ser434Cys Uncertain significance Single submitter
- ATXN2L p.Ser469Leu Uncertain significance Single submitter
- ATXN2L p.Ser477Cys Uncertain significance Single submitter
- ATXN2L p.Ser482Leu Uncertain significance Single submitter
- ATXN2L p.Ser510Cys Uncertain significance Single submitter
- ATXN2L p.Ser937Asn Uncertain significance Single submitter
- ATXN2L p.Thr322Ile Uncertain significance Single submitter
- ATXN2L p.Thr44Asn Uncertain significance Single submitter
- ATXN2L p.Val160Leu Uncertain significance Single submitter
All ATXN2L variants
Conflicting classifications of pathogenicity 1
- p.Gly30Cys Single submitter ⚠
Benign 3
- c.1660-15G>A Multiple submitters
- c.393+8G>A Multiple submitters
- p.Pro804= Multiple submitters
Likely benign 4
- p.Arg357Trp Single submitter ⚠
- p.Asn662= Single submitter
- p.Glu652= Single submitter
- p.Leu572= Single submitter
Uncertain significance 141
- c.2172+1G>T Single submitter neurodevelopmental disorder
- c.*102C>T Single submitter
- c.*130C>T Single submitter
- c.*133C>T Single submitter
- c.*192G>T Single submitter
- c.*91G>A Single submitter
- p.Ala1004Thr Single submitter ⚠
- p.Ala1004Val Single submitter ⚠
- p.Ala162Thr Single submitter ⚠
- p.Ala329Val Single submitter ⚠
- p.Ala495Gly Single submitter ⚠
- p.Ala898Val Single submitter ⚠
- p.Ala93Thr Single submitter ⚠
- p.Ala99Thr Single submitter ⚠
- p.Arg1045Gly Single submitter ⚠
- p.Arg165Trp Single submitter ⚠
- p.Arg175Cys Single submitter ⚠
- p.Arg176Trp Single submitter ⚠
- p.Arg230Cys Single submitter ⚠
- p.Arg230Leu Single submitter ⚠
- p.Arg310His Single submitter ⚠
- p.Arg337Gln Single submitter ⚠
- p.Arg355Gln Single submitter ⚠
- p.Arg357Gln Single submitter ⚠
- p.Arg399His Single submitter ⚠
- p.Arg443Trp Single submitter ⚠
- p.Arg823His Single submitter ⚠
- p.Asn35Asp Single submitter ⚠
- p.Asn662His Single submitter ⚠
- p.Asn959Ser Single submitter ⚠
- p.Asp239Asn Single submitter ⚠
- p.Asp284Gly Single submitter ⚠
- p.Asp388Asn Single submitter ⚠
- p.Asp584Tyr Single submitter ⚠
- p.Gln1028Glu Single submitter ⚠
- p.Gln1031His Single submitter ⚠
- p.Gln413Arg Single submitter ⚠
- p.Gln811Glu Single submitter ⚠
- p.Gln8Lys Single submitter ⚠
- p.Glu232Asp Single submitter ⚠
- p.Glu293Gln Single submitter ⚠
- p.Glu346Gln Single submitter ⚠
- p.Glu346Val Single submitter ⚠
- p.Glu619Gly Single submitter ⚠
- p.Gly1040Glu Single submitter ⚠
- p.Gly107Arg Single submitter ⚠
- p.Gly29Arg Single submitter ⚠
- p.Gly30Ala Single submitter ⚠
- p.Gly334Val Single submitter ⚠
- p.Gly347Glu Single submitter ⚠
- p.Gly36Ser Single submitter ⚠
- p.Gly372Ser Single submitter ⚠
- p.Gly37Asp Single submitter ⚠
- p.Gly468Ser Single submitter ⚠
- p.Gly686Val Single submitter ⚠
- p.Gly720Ala Single submitter ⚠
- p.Gly739Ala Single submitter ⚠
- p.Gly75Asp Single submitter ⚠
- p.Gly75Ser Single submitter ⚠
- p.Gly956Ser Single submitter ⚠
- p.Gly97Val Single submitter ⚠
- p.His869Arg Single submitter ⚠
- p.His87Tyr Single submitter ⚠
- p.Ile313Val Single submitter ⚠
- p.Ile458Leu Single submitter ⚠
- p.Ile492Val Single submitter ⚠
- p.Ile640Val Single submitter ⚠
- p.Ile711Met Single submitter ⚠
- p.Ile717Met Single submitter ⚠
- p.Leu38Phe Single submitter ⚠
- p.Leu59Val Single submitter ⚠
- p.Leu868Phe Single submitter ⚠
- p.Lys207Arg Single submitter ⚠
- p.Lys258Arg Single submitter ⚠
- p.Lys326Asn Single submitter ⚠
- p.Lys609Arg Single submitter ⚠
- p.Lys609Thr Single submitter ⚠
- p.Lys670Asn Single submitter ⚠
- p.Met215Ile Single submitter ⚠
- p.Met315Thr Single submitter Marfanoid habitus and intellectual disability ⚠
- p.Met817Ile Single submitter ⚠
- p.Met817Leu Single submitter ⚠
- p.Pro1011Thr Single submitter ⚠
- p.Pro1018Ser Single submitter ⚠
- p.Pro1027Thr Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro17Ser Single submitter ⚠
- p.Pro18Thr Single submitter ⚠
- p.Pro27Leu Single submitter ⚠
- p.Pro27Ser Single submitter ⚠
- p.Pro374Ser Single submitter ⚠
- p.Pro384Leu Single submitter ⚠
- p.Pro472Ser Single submitter ⚠
- p.Pro494Leu Single submitter ⚠
- p.Pro497Ser Single submitter ⚠
- p.Pro514Arg Single submitter ⚠
- p.Pro595Ser Single submitter ⚠
- p.Pro636Leu Single submitter ⚠
- p.Pro687Ser Single submitter ⚠
- p.Pro721Ser Single submitter ⚠
- p.Pro753Leu Single submitter ⚠
- p.Pro765Leu Single submitter ⚠
- p.Pro776Ser Single submitter ⚠
- p.Pro789Ser Single submitter ⚠
- p.Pro79Leu Single submitter ⚠
- p.Pro79Ser Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Pro840Ser Single submitter ⚠
- p.Pro843Thr Single submitter ⚠
- p.Pro84Ser Single submitter ⚠
- p.Pro884Gln Single submitter ⚠
- p.Pro891His Single submitter ⚠
- p.Pro976Thr Single submitter ⚠
- p.Ser121Cys Single submitter ⚠
- p.Ser368Thr Single submitter ⚠
- p.Ser377Thr Single submitter ⚠
- p.Ser424Leu Single submitter ⚠
- p.Ser430Pro Single submitter ⚠
- p.Ser434Ala Single submitter ⚠
- p.Ser434Cys Single submitter ⚠
- p.Ser469Leu Single submitter ⚠
- p.Ser477Cys Single submitter ⚠
- p.Ser482Leu Single submitter ⚠
- p.Ser510Cys Single submitter ⚠
- p.Ser604Leu Single submitter ⚠
- p.Ser634Gly Single submitter ⚠
- p.Ser634Thr Single submitter ⚠
- p.Ser67Gly Single submitter ⚠
- p.Ser785Pro Single submitter ⚠
- p.Ser937Asn Single submitter ⚠
- p.Thr143Ile Single submitter ⚠
- p.Thr322Ile Single submitter ⚠
- p.Thr433Ile Single submitter ⚠
- p.Thr44Asn Single submitter ⚠
- p.Thr669Ala Single submitter ⚠
- p.Thr683Ala Single submitter ⚠
- p.Thr826Met Single submitter ⚠
- p.Thr877Ala Single submitter ⚠
- p.Val117Ile Single submitter ⚠
- p.Val160Leu Single submitter ⚠
- p.Val193Ile Single submitter ⚠