CLNS1A — 27 ClinVar variants
All ClinVar germline CLNS1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Likely benign · 26 Uncertain significance
Full CLNS1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLNS1A p.Ala121Glu Uncertain significance Single submitter
- CLNS1A p.Ala95Asp Uncertain significance Single submitter
- CLNS1A p.Asp209Tyr Uncertain significance Single submitter
- CLNS1A p.Gln161His Uncertain significance Single submitter
- CLNS1A p.Glu131Gln Uncertain significance Single submitter
- CLNS1A p.Glu89Lys Uncertain significance Single submitter
- CLNS1A p.Glu99Gly Uncertain significance Single submitter
- CLNS1A p.Gly29Glu Uncertain significance Single submitter
- CLNS1A p.His157Pro Uncertain significance Single submitter
- CLNS1A p.Ile164Met Uncertain significance Single submitter
- CLNS1A p.Lys30Arg Uncertain significance Single submitter
- CLNS1A p.Phe3Val Uncertain significance Single submitter
- CLNS1A p.Ser55Ala Uncertain significance Single submitter
- CLNS1A p.Thr222Ala Uncertain significance Single submitter
- CLNS1A p.Tyr152Cys Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CLNS1A p.Arg18Trp Uncertain significance Single submitter
- CLNS1A p.Arg206Gly Uncertain significance Single submitter
- CLNS1A p.Asp216Gly Uncertain significance Single submitter
- CLNS1A p.Asp232Asn Uncertain significance Single submitter
- CLNS1A p.Asp236His Uncertain significance Single submitter
- CLNS1A p.Glu131Lys Uncertain significance Single submitter
- CLNS1A p.Glu57Gly Uncertain significance Single submitter
- CLNS1A p.Gly204Arg Uncertain significance Single submitter
- CLNS1A p.His176Leu Uncertain significance Single submitter
All CLNS1A variants
Likely benign 1
- p.Ile211Val Single submitter
Uncertain significance 26
- p.Ala121Glu Single submitter ⚠
- p.Ala203Ser Single submitter
- p.Ala95Asp Single submitter ⚠
- p.Arg18Trp Single submitter ⚠
- p.Arg206Gly Single submitter ⚠
- p.Asp209Tyr Single submitter ⚠
- p.Asp216Gly Single submitter ⚠
- p.Asp232Asn Single submitter ⚠
- p.Asp236His Single submitter ⚠
- p.Gln161His Single submitter ⚠
- p.Glu131Gln Single submitter ⚠
- p.Glu131Lys Single submitter ⚠
- p.Glu57Gly Single submitter ⚠
- p.Glu89Lys Single submitter ⚠
- p.Glu99Gly Single submitter ⚠
- p.Gly204Arg Single submitter ⚠
- p.Gly29Glu Single submitter ⚠
- p.His157Pro Single submitter ⚠
- p.His176Leu Single submitter ⚠
- p.Ile164Met Single submitter ⚠
- p.Lys30Arg Single submitter ⚠
- p.Phe3Val Single submitter ⚠
- p.Ser55Ala Single submitter ⚠
- p.Thr222Ala Single submitter ⚠
- p.Thr23Ile Single submitter
- p.Tyr152Cys Single submitter ⚠