ATXN7L1 — 127 ClinVar variants
All ClinVar germline ATXN7L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →
5 Likely benign · 122 Uncertain significance
Full ATXN7L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 123
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 80
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATXN7L1 p.Ala213Thr Uncertain significance Single submitter
- ATXN7L1 p.Ala465Thr Uncertain significance Single submitter
- ATXN7L1 p.Ala576Thr Uncertain significance Single submitter
- ATXN7L1 p.Ala727Thr Uncertain significance Single submitter
- ATXN7L1 p.Ala735Val Uncertain significance Single submitter
- ATXN7L1 p.Ala754Thr Uncertain significance Single submitter
- ATXN7L1 p.Ala811Thr Uncertain significance Single submitter
- ATXN7L1 p.Arg127Lys Uncertain significance Single submitter
- ATXN7L1 p.Arg328Gln Uncertain significance Single submitter
- ATXN7L1 p.Arg34His Uncertain significance Single submitter
- ATXN7L1 p.Arg635Gly Uncertain significance Single submitter
- ATXN7L1 p.Arg635His Uncertain significance Single submitter
- ATXN7L1 p.Arg645Lys Uncertain significance Single submitter
- ATXN7L1 p.Arg823Pro Uncertain significance Single submitter
- ATXN7L1 p.Arg848Gln Uncertain significance Single submitter
- ATXN7L1 p.Asn206Ser Uncertain significance Single submitter
- ATXN7L1 p.Asn214Ser Uncertain significance Single submitter
- ATXN7L1 p.Asn218Lys Uncertain significance Single submitter
- ATXN7L1 p.Asn415Ser Uncertain significance Single submitter
- ATXN7L1 p.Asn537His Uncertain significance Single submitter
- ATXN7L1 p.Asn696Tyr Uncertain significance Single submitter
- ATXN7L1 p.Asn702His Uncertain significance Single submitter
- ATXN7L1 p.Asn763Ser Uncertain significance Single submitter
- ATXN7L1 p.Asp482His Uncertain significance Single submitter
- ATXN7L1 p.Asp631Glu Uncertain significance Single submitter
- ATXN7L1 p.Asp631His Uncertain significance Single submitter
- ATXN7L1 p.Asp637Asn Uncertain significance Single submitter
- ATXN7L1 p.Asp756Glu Uncertain significance Single submitter
- ATXN7L1 p.Asp815Gly Uncertain significance Single submitter
- ATXN7L1 p.Cys193Arg Uncertain significance Single submitter
- ATXN7L1 p.Glu17Asp Uncertain significance Single submitter
- ATXN7L1 p.Gly154Ser Uncertain significance Single submitter
- ATXN7L1 p.Gly187Arg Uncertain significance Single submitter
- ATXN7L1 p.His155Arg Uncertain significance Single submitter
- ATXN7L1 p.His753Pro Uncertain significance Single submitter
- ATXN7L1 p.Ile257Phe Uncertain significance Single submitter
- ATXN7L1 p.Ile268Arg Uncertain significance Single submitter
- ATXN7L1 p.Ile523Phe Uncertain significance Single submitter
- ATXN7L1 p.Ile523Val Uncertain significance Single submitter
- ATXN7L1 p.Ile557Leu Uncertain significance Single submitter
- ATXN7L1 p.Leu207Val Uncertain significance Single submitter
- ATXN7L1 p.Leu362Val Uncertain significance Single submitter
- ATXN7L1 p.Leu831Pro Uncertain significance Single submitter
- ATXN7L1 p.Lys203Glu Uncertain significance Single submitter
- ATXN7L1 p.Lys271Gln Uncertain significance Single submitter
- ATXN7L1 p.Lys55Arg Uncertain significance Single submitter
- ATXN7L1 p.Met246Ile Uncertain significance Single submitter
- ATXN7L1 p.Met246Leu Uncertain significance Single submitter
- ATXN7L1 p.Met594Arg Uncertain significance Single submitter
- ATXN7L1 p.Met594Val Uncertain significance Single submitter
- ATXN7L1 p.Met798Val Uncertain significance Single submitter
- ATXN7L1 p.Met85Val Uncertain significance Single submitter
- ATXN7L1 p.Pro130Ala Uncertain significance Single submitter
- ATXN7L1 p.Pro195Ser Uncertain significance Single submitter
- ATXN7L1 p.Pro302Arg Uncertain significance Single submitter
- ATXN7L1 p.Pro363Leu Uncertain significance Single submitter
- ATXN7L1 p.Pro368Leu Uncertain significance Single submitter
- ATXN7L1 p.Pro526Ala Uncertain significance Single submitter
- ATXN7L1 p.Pro526Ser Uncertain significance Single submitter
- ATXN7L1 p.Pro526Thr Uncertain significance Single submitter
- ATXN7L1 p.Pro538Thr Uncertain significance Single submitter
- ATXN7L1 p.Pro547Ser Uncertain significance Single submitter
- ATXN7L1 p.Pro606Leu Uncertain significance Single submitter
- ATXN7L1 p.Pro806Ser Uncertain significance Single submitter
- ATXN7L1 p.Ser279Gly Uncertain significance Single submitter
- ATXN7L1 p.Ser721Leu Uncertain significance Single submitter
- ATXN7L1 p.Ser783Trp Uncertain significance Single submitter
- ATXN7L1 p.Thr221Ser Uncertain significance Single submitter
- ATXN7L1 p.Thr458Arg Uncertain significance Single submitter
- ATXN7L1 p.Thr458Met Uncertain significance Single submitter
- ATXN7L1 p.Thr581Ala Uncertain significance Single submitter
- ATXN7L1 p.Thr634Ser Uncertain significance Single submitter
- ATXN7L1 p.Tyr556Cys Uncertain significance Single submitter
- ATXN7L1 p.Val108Gly Uncertain significance Single submitter
- ATXN7L1 p.Val109Ile Uncertain significance Single submitter
- ATXN7L1 p.Val235Ile Uncertain significance Single submitter
- ATXN7L1 p.Val348Ala Uncertain significance Single submitter
- ATXN7L1 p.Val527Ile Uncertain significance Single submitter
- ATXN7L1 p.Val531Ile Uncertain significance Single submitter
- ATXN7L1 p.Val541Leu Uncertain significance Single submitter
Predictors split 43
The independent predictors disagree with each other — read with care.
- ATXN7L1 p.Ala465Val Uncertain significance Single submitter
- ATXN7L1 p.Ala491Ser Uncertain significance Single submitter
- ATXN7L1 p.Arg472His Uncertain significance Single submitter
- ATXN7L1 p.Arg476Gln Uncertain significance Single submitter
- ATXN7L1 p.Arg487His Uncertain significance Single submitter
- ATXN7L1 p.Asn704Asp Uncertain significance Single submitter
- ATXN7L1 p.Asp447Asn Uncertain significance Single submitter
- ATXN7L1 p.Asp60Tyr Uncertain significance Single submitter
- ATXN7L1 p.Gln331Arg Uncertain significance Single submitter
- ATXN7L1 p.Glu352Ala Uncertain significance Single submitter
- ATXN7L1 p.Glu448Lys Uncertain significance Single submitter
- ATXN7L1 p.Glu70Gln Uncertain significance Single submitter
- ATXN7L1 p.His522Tyr Uncertain significance Single submitter
- ATXN7L1 p.His753Tyr Uncertain significance Single submitter
- ATXN7L1 p.His94Arg Uncertain significance Single submitter
- ATXN7L1 p.His94Tyr Uncertain significance Single submitter
- ATXN7L1 p.Ile51Phe Uncertain significance Single submitter
- ATXN7L1 p.Leu300Ser Uncertain significance Single submitter
- ATXN7L1 p.Leu334Pro Uncertain significance Single submitter
- ATXN7L1 p.Lys270Asn Uncertain significance Single submitter
- ATXN7L1 p.Lys329Glu Uncertain significance Single submitter
- ATXN7L1 p.Lys329Ile Uncertain significance Single submitter
- ATXN7L1 p.Lys620Arg Uncertain significance Single submitter
- ATXN7L1 p.Met798Thr Uncertain significance Single submitter
- ATXN7L1 p.Pro282Ala Uncertain significance Single submitter
- ATXN7L1 p.Pro574Arg Uncertain significance Single submitter
- ATXN7L1 p.Ser157Tyr Uncertain significance Single submitter
- ATXN7L1 p.Ser175Tyr Uncertain significance Single submitter
- ATXN7L1 p.Ser228Tyr Uncertain significance Single submitter
- ATXN7L1 p.Ser231Leu Uncertain significance Single submitter
- ATXN7L1 p.Ser410Ile Uncertain significance Single submitter
- ATXN7L1 p.Ser571Leu Uncertain significance Single submitter
- ATXN7L1 p.Ser667Leu Uncertain significance Single submitter
- ATXN7L1 p.Ser683Asn Uncertain significance Single submitter
- ATXN7L1 p.Ser74Arg Uncertain significance Single submitter
- ATXN7L1 p.Ser808Arg Uncertain significance Single submitter
- ATXN7L1 p.Ser830Asn Uncertain significance Single submitter
- ATXN7L1 p.Thr141Ile Uncertain significance Single submitter
- ATXN7L1 p.Thr167Met Uncertain significance Single submitter
- ATXN7L1 p.Thr525Asn Likely benign Single submitter
- ATXN7L1 p.Tyr478His Uncertain significance Single submitter
- ATXN7L1 p.Val101Ala Uncertain significance Single submitter
- ATXN7L1 p.Val496Ile Uncertain significance Single submitter
All ATXN7L1 variants
Likely benign 5
- p.Asn565= Single submitter
- p.Cys193= Single submitter
- p.Ile361Val Single submitter
- p.Pro726= Single submitter
- p.Thr525Asn Single submitter ⚠
Uncertain significance 122
- p.Ala213Thr Single submitter ⚠
- p.Ala465Thr Single submitter ⚠
- p.Ala465Val Single submitter ⚠
- p.Ala491Ser Single submitter ⚠
- p.Ala576Thr Single submitter ⚠
- p.Ala727Thr Single submitter ⚠
- p.Ala735Val Single submitter ⚠
- p.Ala754Thr Single submitter ⚠
- p.Ala811Thr Single submitter ⚠
- p.Arg127Lys Single submitter ⚠
- p.Arg328Gln Single submitter ⚠
- p.Arg34His Single submitter ⚠
- p.Arg472His Single submitter ⚠
- p.Arg476Gln Single submitter ⚠
- p.Arg487His Single submitter ⚠
- p.Arg635Gly Single submitter ⚠
- p.Arg635His Single submitter ⚠
- p.Arg645Lys Single submitter ⚠
- p.Arg823Pro Single submitter ⚠
- p.Arg848Gln Single submitter ⚠
- p.Asn206Ser Single submitter ⚠
- p.Asn214Ser Single submitter ⚠
- p.Asn218Lys Single submitter ⚠
- p.Asn415Ser Single submitter ⚠
- p.Asn537His Single submitter ⚠
- p.Asn696Tyr Single submitter ⚠
- p.Asn702His Single submitter ⚠
- p.Asn704Asp Single submitter ⚠
- p.Asn763Ser Single submitter ⚠
- p.Asp447Asn Single submitter ⚠
- p.Asp482His Single submitter ⚠
- p.Asp60Tyr Single submitter ⚠
- p.Asp631Glu Single submitter ⚠
- p.Asp631His Single submitter ⚠
- p.Asp637Asn Single submitter ⚠
- p.Asp756Glu Single submitter ⚠
- p.Asp815Gly Single submitter ⚠
- p.Cys193Arg Single submitter ⚠
- p.Gln331Arg Single submitter ⚠
- p.Glu17Asp Single submitter ⚠
- p.Glu352Ala Single submitter ⚠
- p.Glu448Lys Single submitter ⚠
- p.Glu70Gln Single submitter ⚠
- p.Gly154Ser Single submitter ⚠
- p.Gly187Arg Single submitter ⚠
- p.His155Arg Single submitter ⚠
- p.His522Tyr Single submitter ⚠
- p.His753Pro Single submitter ⚠
- p.His753Tyr Single submitter ⚠
- p.His94Arg Single submitter ⚠
- p.His94Tyr Single submitter ⚠
- p.Ile257Phe Single submitter ⚠
- p.Ile268Arg Single submitter ⚠
- p.Ile51Phe Single submitter ⚠
- p.Ile523Phe Single submitter ⚠
- p.Ile523Val Single submitter ⚠
- p.Ile557Leu Single submitter ⚠
- p.Leu207Val Single submitter ⚠
- p.Leu300Ser Single submitter ⚠
- p.Leu334Pro Single submitter ⚠
- p.Leu362Val Single submitter ⚠
- p.Leu831Pro Single submitter ⚠
- p.Lys203Glu Single submitter ⚠
- p.Lys270Asn Single submitter ⚠
- p.Lys271Gln Single submitter ⚠
- p.Lys329Glu Single submitter ⚠
- p.Lys329Ile Single submitter ⚠
- p.Lys55Arg Single submitter ⚠
- p.Lys620Arg Single submitter ⚠
- p.Met246Ile Single submitter ⚠
- p.Met246Leu Single submitter ⚠
- p.Met594Arg Single submitter ⚠
- p.Met594Val Single submitter ⚠
- p.Met798Thr Single submitter ⚠
- p.Met798Val Single submitter ⚠
- p.Met85Val Single submitter ⚠
- p.Pro130Ala Single submitter ⚠
- p.Pro195Ser Single submitter ⚠
- p.Pro282Ala Single submitter ⚠
- p.Pro302Arg Single submitter ⚠
- p.Pro363Leu Single submitter ⚠
- p.Pro368Leu Single submitter ⚠
- p.Pro526Ala Single submitter ⚠
- p.Pro526Ser Single submitter ⚠
- p.Pro526Thr Single submitter ⚠
- p.Pro538Thr Single submitter ⚠
- p.Pro547Ser Single submitter ⚠
- p.Pro574Arg Single submitter ⚠
- p.Pro606Leu Single submitter ⚠
- p.Pro806Ser Single submitter ⚠
- p.Ser157Tyr Single submitter ⚠
- p.Ser175Tyr Single submitter ⚠
- p.Ser228Tyr Single submitter ⚠
- p.Ser231Leu Single submitter ⚠
- p.Ser279Gly Single submitter ⚠
- p.Ser410Ile Single submitter ⚠
- p.Ser571Leu Single submitter ⚠
- p.Ser667Leu Single submitter ⚠
- p.Ser683Asn Single submitter ⚠
- p.Ser721Leu Single submitter ⚠
- p.Ser74Arg Single submitter ⚠
- p.Ser783Trp Single submitter ⚠
- p.Ser808Arg Single submitter ⚠
- p.Ser830Asn Single submitter ⚠
- p.Thr141Ile Single submitter ⚠
- p.Thr167Met Single submitter ⚠
- p.Thr221Ser Single submitter ⚠
- p.Thr458Arg Single submitter ⚠
- p.Thr458Met Single submitter ⚠
- p.Thr581Ala Single submitter ⚠
- p.Thr634Ser Single submitter ⚠
- p.Tyr478His Single submitter ⚠
- p.Tyr556Cys Single submitter ⚠
- p.Val101Ala Single submitter ⚠
- p.Val108Gly Single submitter ⚠
- p.Val109Ile Single submitter ⚠
- p.Val235Ile Single submitter ⚠
- p.Val348Ala Single submitter ⚠
- p.Val496Ile Single submitter ⚠
- p.Val527Ile Single submitter ⚠
- p.Val531Ile Single submitter ⚠
- p.Val541Leu Single submitter ⚠