ATXN1L — 111 ClinVar variants
All ClinVar germline ATXN1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
2 Likely benign · 109 Uncertain significance
Full ATXN1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
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 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATXN1L p.Ala191Thr Uncertain significance Single submitter
- ATXN1L p.Ala238Val Uncertain significance Single submitter
- ATXN1L p.Ala248Gly Uncertain significance Single submitter
- ATXN1L p.Ala250Asp Uncertain significance Single submitter
- ATXN1L p.Ala262Pro Uncertain significance Single submitter
- ATXN1L p.Ala268Val Uncertain significance Single submitter
- ATXN1L p.Ala343Ser Uncertain significance Single submitter
- ATXN1L p.Ala343Thr Uncertain significance Single submitter
- ATXN1L p.Ala354Pro Uncertain significance Single submitter
- ATXN1L p.Ala412Glu Uncertain significance Single submitter
- ATXN1L p.Ala650Val Uncertain significance Single submitter
- ATXN1L p.Arg277Gln Uncertain significance Single submitter
- ATXN1L p.Arg328Gln Uncertain significance Single submitter
- ATXN1L p.Arg339Gln Uncertain significance Single submitter
- ATXN1L p.Arg377Gln Uncertain significance Single submitter
- ATXN1L p.Arg393His Uncertain significance Single submitter
- ATXN1L p.Arg447Gly Uncertain significance Single submitter
- ATXN1L p.Arg447Thr Uncertain significance Single submitter
- ATXN1L p.Arg559Gln Uncertain significance Single submitter
- ATXN1L p.Arg633Gly Uncertain significance Single submitter
- ATXN1L p.Arg633Pro Uncertain significance Single submitter
- ATXN1L p.Asn278Asp Uncertain significance Single submitter
- ATXN1L p.Asp452His Uncertain significance Single submitter
- ATXN1L p.Cys595Ser Uncertain significance Single submitter
- ATXN1L p.Gln476His Uncertain significance Single submitter
- ATXN1L p.Gln54Lys Uncertain significance Single submitter
- ATXN1L p.Gln600Glu Uncertain significance Single submitter
- ATXN1L p.Gln600His Uncertain significance Single submitter
- ATXN1L p.Gln654Arg Uncertain significance Single submitter
- ATXN1L p.Glu24Lys Uncertain significance Single submitter
- ATXN1L p.Glu258Asp Uncertain significance Single submitter
- ATXN1L p.Glu498Lys Uncertain significance Single submitter
- ATXN1L p.Gly141Ala Uncertain significance Single submitter
- ATXN1L p.Gly209Glu Uncertain significance Single submitter
- ATXN1L p.Gly329Glu Uncertain significance Single submitter
- ATXN1L p.Gly394Glu Uncertain significance Single submitter
- ATXN1L p.Gly629Val Uncertain significance Single submitter
- ATXN1L p.Gly643Arg Uncertain significance Single submitter
- ATXN1L p.Gly64Val Uncertain significance Single submitter
- ATXN1L p.Gly96Val Uncertain significance Single submitter
- ATXN1L p.His406Arg Uncertain significance Single submitter
- ATXN1L p.Ile140Thr Uncertain significance Single submitter
- ATXN1L p.Ile229Val Uncertain significance Single submitter
- ATXN1L p.Ile436Val Uncertain significance Single submitter
- ATXN1L p.Ile71Phe Uncertain significance Single submitter
- ATXN1L p.Leu220Pro Uncertain significance Single submitter
- ATXN1L p.Leu263Val Uncertain significance Single submitter
- ATXN1L p.Leu344Ser Uncertain significance Single submitter
- ATXN1L p.Leu386Gln Uncertain significance Single submitter
- ATXN1L p.Leu465Met Uncertain significance Single submitter
- ATXN1L p.Leu613Val Uncertain significance Single submitter
- ATXN1L p.Met233Ile Uncertain significance Single submitter
- ATXN1L p.Met413Val Uncertain significance Single submitter
- ATXN1L p.Pro107Leu Uncertain significance Single submitter
- ATXN1L p.Pro120Ser Uncertain significance Single submitter
- ATXN1L p.Pro126Thr Uncertain significance Single submitter
- ATXN1L p.Pro202Leu Uncertain significance Single submitter
- ATXN1L p.Pro247Thr Uncertain significance Single submitter
- ATXN1L p.Pro541Arg Uncertain significance Single submitter
- ATXN1L p.Pro608Arg Uncertain significance Single submitter
- ATXN1L p.Pro651Leu Uncertain significance Single submitter
- ATXN1L p.Ser115Ala Uncertain significance Single submitter
- ATXN1L p.Ser197Leu Uncertain significance Single submitter
- ATXN1L p.Ser259Ile Uncertain significance Single submitter
- ATXN1L p.Ser587Gly Uncertain significance Single submitter
- ATXN1L p.Ser615Ala Uncertain significance Single submitter
- ATXN1L p.Ser8Gly Uncertain significance Single submitter
- ATXN1L p.Thr109Ala Uncertain significance Single submitter
- ATXN1L p.Thr168Ile Uncertain significance Single submitter
- ATXN1L p.Thr22Ser Uncertain significance Single submitter
- ATXN1L p.Thr255Ser Uncertain significance Single submitter
- ATXN1L p.Thr509Met Uncertain significance Single submitter
- ATXN1L p.Tyr349Cys Uncertain significance Single submitter
- ATXN1L p.Tyr83Cys Uncertain significance Single submitter
- ATXN1L p.Val112Ile Uncertain significance Single submitter
- ATXN1L p.Val253Ile Uncertain significance Single submitter
- ATXN1L p.Val280Ile Uncertain significance Single submitter
- ATXN1L p.Val352Gly Uncertain significance Single submitter
- ATXN1L p.Val414Ala Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- ATXN1L p.Ala182Asp Uncertain significance Single submitter
- ATXN1L p.Arg339Trp Uncertain significance Single submitter
- ATXN1L p.Arg495Cys Uncertain significance Single submitter
- ATXN1L p.Arg559Trp Uncertain significance Single submitter
- ATXN1L p.Arg669Cys Uncertain significance Single submitter
- ATXN1L p.Arg684His Uncertain significance Single submitter
- ATXN1L p.Cys11Arg Uncertain significance Single submitter
- ATXN1L p.Gln675Arg Uncertain significance Single submitter
- ATXN1L p.Glu336Lys Uncertain significance Single submitter
- ATXN1L p.Glu358Lys Uncertain significance Single submitter
- ATXN1L p.Gly374Cys Uncertain significance Single submitter
- ATXN1L p.Ile578Leu Uncertain significance Single submitter
- ATXN1L p.Leu159Arg Uncertain significance Single submitter
- ATXN1L p.Pro13Ser Uncertain significance Single submitter
- ATXN1L p.Pro147His Uncertain significance Single submitter
- ATXN1L p.Pro147Ser Uncertain significance Single submitter
- ATXN1L p.Pro187His Uncertain significance Single submitter
- ATXN1L p.Pro362Ser Uncertain significance Single submitter
- ATXN1L p.Ser289Tyr Uncertain significance Single submitter
- ATXN1L p.Ser632Phe Uncertain significance Single submitter
- ATXN1L p.Thr109Lys Uncertain significance Single submitter
- ATXN1L p.Thr255Ile Uncertain significance Single submitter
- ATXN1L p.Thr30Ile Uncertain significance Single submitter
- ATXN1L p.Thr369Ile Uncertain significance Single submitter
- ATXN1L p.Thr425Ile Uncertain significance Single submitter
- ATXN1L p.Tyr124Cys Uncertain significance Single submitter
- ATXN1L p.Val21Met Uncertain significance Single submitter
- ATXN1L p.Val320Ile Uncertain significance Single submitter
- ATXN1L p.Val444Met Likely benign Single submitter
- ATXN1L p.Val511Met Uncertain significance Single submitter
- ATXN1L p.Val87Met Uncertain significance Single submitter
All ATXN1L variants
Likely benign 2
- p.Ser599Gly Single submitter
- p.Val444Met Single submitter ⚠
Uncertain significance 109
- p.Ala182Asp Single submitter ⚠
- p.Ala191Thr Single submitter ⚠
- p.Ala238Val Single submitter ⚠
- p.Ala248Gly Single submitter ⚠
- p.Ala250Asp Single submitter ⚠
- p.Ala262Pro Single submitter ⚠
- p.Ala268Val Single submitter ⚠
- p.Ala343Ser Single submitter ⚠
- p.Ala343Thr Single submitter ⚠
- p.Ala354Pro Single submitter ⚠
- p.Ala412Glu Single submitter ⚠
- p.Ala650Val Single submitter ⚠
- p.Arg277Gln Single submitter ⚠
- p.Arg328Gln Single submitter ⚠
- p.Arg339Gln Single submitter ⚠
- p.Arg339Trp Single submitter ⚠
- p.Arg377Gln Single submitter ⚠
- p.Arg393His Single submitter ⚠
- p.Arg447Gly Single submitter ⚠
- p.Arg447Thr Single submitter ⚠
- p.Arg495Cys Single submitter ⚠
- p.Arg559Gln Single submitter ⚠
- p.Arg559Trp Single submitter ⚠
- p.Arg633Gly Single submitter ⚠
- p.Arg633Pro Single submitter ⚠
- p.Arg669Cys Single submitter ⚠
- p.Arg684His Single submitter ⚠
- p.Asn278Asp Single submitter ⚠
- p.Asp452His Single submitter ⚠
- p.Cys11Arg Single submitter ⚠
- p.Cys595Ser Single submitter ⚠
- p.Gln476His Single submitter ⚠
- p.Gln54Lys Single submitter ⚠
- p.Gln600Glu Single submitter ⚠
- p.Gln600His Single submitter ⚠
- p.Gln654Arg Single submitter ⚠
- p.Gln675Arg Single submitter ⚠
- p.Glu24Lys Single submitter ⚠
- p.Glu258Asp Single submitter ⚠
- p.Glu336Lys Single submitter ⚠
- p.Glu358Lys Single submitter ⚠
- p.Glu498Lys Single submitter ⚠
- p.Gly141Ala Single submitter ⚠
- p.Gly209Glu Single submitter ⚠
- p.Gly329Glu Single submitter ⚠
- p.Gly374Cys Single submitter ⚠
- p.Gly394Glu Single submitter ⚠
- p.Gly629Val Single submitter ⚠
- p.Gly643Arg Single submitter ⚠
- p.Gly64Val Single submitter ⚠
- p.Gly96Val Single submitter ⚠
- p.His406Arg Single submitter ⚠
- p.Ile140Thr Single submitter ⚠
- p.Ile229Val Single submitter ⚠
- p.Ile436Val Single submitter ⚠
- p.Ile578Leu Single submitter ⚠
- p.Ile71Phe Single submitter ⚠
- p.Leu159Arg Single submitter ⚠
- p.Leu220Pro Single submitter ⚠
- p.Leu263Val Single submitter ⚠
- p.Leu344Ser Single submitter ⚠
- p.Leu386Gln Single submitter ⚠
- p.Leu465Met Single submitter ⚠
- p.Leu613Val Single submitter ⚠
- p.Met233Ile Single submitter ⚠
- p.Met413Val Single submitter ⚠
- p.Pro107Leu Single submitter ⚠
- p.Pro120Ser Single submitter ⚠
- p.Pro126Thr Single submitter ⚠
- p.Pro13Ser Single submitter ⚠
- p.Pro147His Single submitter ⚠
- p.Pro147Ser Single submitter ⚠
- p.Pro187His Single submitter ⚠
- p.Pro202Leu Single submitter ⚠
- p.Pro247Thr Single submitter ⚠
- p.Pro362Ser Single submitter ⚠
- p.Pro541Arg Single submitter ⚠
- p.Pro608Arg Single submitter ⚠
- p.Pro651Leu Single submitter ⚠
- p.Ser115Ala Single submitter ⚠
- p.Ser197Leu Single submitter ⚠
- p.Ser259Ile Single submitter ⚠
- p.Ser289Tyr Single submitter ⚠
- p.Ser587Gly Single submitter ⚠
- p.Ser615Ala Single submitter ⚠
- p.Ser632Phe Single submitter ⚠
- p.Ser8Gly Single submitter ⚠
- p.Thr109Ala Single submitter ⚠
- p.Thr109Lys Single submitter ⚠
- p.Thr168Ile Single submitter ⚠
- p.Thr22Ser Single submitter ⚠
- p.Thr255Ile Single submitter ⚠
- p.Thr255Ser Single submitter ⚠
- p.Thr30Ile Single submitter ⚠
- p.Thr369Ile Single submitter ⚠
- p.Thr425Ile Single submitter ⚠
- p.Thr509Met Single submitter ⚠
- p.Tyr124Cys Single submitter ⚠
- p.Tyr349Cys Single submitter ⚠
- p.Tyr83Cys Single submitter ⚠
- p.Val112Ile Single submitter ⚠
- p.Val21Met Single submitter ⚠
- p.Val253Ile Single submitter ⚠
- p.Val280Ile Single submitter ⚠
- p.Val320Ile Single submitter ⚠
- p.Val352Gly Single submitter ⚠
- p.Val414Ala Single submitter ⚠
- p.Val511Met Single submitter ⚠
- p.Val87Met Single submitter ⚠