ATXN8OS — 22 ClinVar variants

All ClinVar germline ATXN8OS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

2 Likely pathogenic · 11 Benign · 9 Likely benign

Full ATXN8OS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All ATXN8OS variants

Likely pathogenic 2

n.894CTA[1]CTG[144_150] Single submitter spinocerebellar ataxia type 8
n.894CTA[(3 Single submitter spinocerebellar ataxia type 8

Benign 11

n.1041G>A Single submitter
n.1114G>A Single submitter
n.1243G>T Single submitter
n.816C>T Single submitter
n.983T>C Single submitter
n.1004C>T No assertion criteria ATXN8OS-related disorder
n.1103CTG[15_40] No assertion criteria spinocerebellar ataxia type 8
n.891_908del No assertion criteria ATXN8OS-related disorder
n.900G>A No assertion criteria ATXN8OS-related disorder
n.901_902del No assertion criteria ATXN8OS-related disorder
n.903G>A No assertion criteria ATXN8OS-related disorder

Likely benign 9

n.1102_1104GCT[4] Single submitter
n.1102_1104GCT[8] Single submitter
n.1104_1106TGC[13] Single submitter
n.1231A>G Single submitter
n.1256A>G No assertion criteria ATXN8OS-related disorder
n.521C>T No assertion criteria ATXN8OS-related disorder
n.758T>C No assertion criteria ATXN8OS-related disorder
n.805G>A No assertion criteria ATXN8OS-related disorder
n.947T>A No assertion criteria ATXN8OS-related disorder