GDA — 50 ClinVar variants
All ClinVar germline GDA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
3 Likely benign · 47 Uncertain significance
Full GDA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GDA p.Arg14Gln Uncertain significance Single submitter
- GDA p.Arg233Cys Uncertain significance Single submitter
- GDA p.Arg435Gln Uncertain significance Single submitter
- GDA p.Asn289Lys Uncertain significance Single submitter
- GDA p.Asn303Ser Uncertain significance Single submitter
- GDA p.Asp383Gly Uncertain significance Single submitter
- GDA p.Asp406Asn Uncertain significance Single submitter
- GDA p.Gly384Val Uncertain significance Single submitter
- GDA p.Gly444Arg Uncertain significance Single submitter
- GDA p.Gly92Glu Uncertain significance Single submitter
- GDA p.Ile156Val Uncertain significance Single submitter
- GDA p.Ile229Phe Uncertain significance Single submitter
- GDA p.Ile298Val Uncertain significance Single submitter
- GDA p.Ile386Thr Uncertain significance Single submitter
- GDA p.Ile425Val Uncertain significance Single submitter
- GDA p.Ile42Val Uncertain significance Single submitter
- GDA p.Leu153Phe Uncertain significance Single submitter
- GDA p.Met6Ile Uncertain significance Single submitter
- GDA p.Met6Val Uncertain significance Single submitter
- GDA p.Phe142Val Uncertain significance Single submitter
- GDA p.Pro62Leu Uncertain significance Single submitter
- GDA p.Ser69Asn Uncertain significance Single submitter
- GDA p.Thr176Ile Uncertain significance Single submitter
- GDA p.Tyr261Cys Uncertain significance Single submitter
- GDA p.Val169Leu Uncertain significance Single submitter
- GDA p.Val290Ile Uncertain significance Single submitter
- GDA p.Val424Ala Uncertain significance Single submitter
- GDA p.Val43Leu Uncertain significance Single submitter
- GDA p.Val440Gly Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- GDA p.Asp234Tyr Uncertain significance Single submitter
- GDA p.Gly227Ser Uncertain significance Single submitter
- GDA p.Gly381Glu Uncertain significance Single submitter
- GDA p.Ile229Thr Uncertain significance Single submitter
- GDA p.Leu319Gln Uncertain significance Single submitter
- GDA p.Lys274Gln Uncertain significance Single submitter
- GDA p.Tyr335Cys Uncertain significance Single submitter
- GDA p.Tyr335His Uncertain significance Single submitter
- GDA p.Val318Phe Uncertain significance Single submitter
- GDA p.Val331Leu Uncertain significance Single submitter
- GDA p.Val43Met Uncertain significance Single submitter
All GDA variants
Likely benign 3
- p.Asn228Ser Single submitter
- p.Ile241Val Single submitter
- p.Ser94Asn Single submitter
Uncertain significance 47
- c.*2442C>A Single submitter
- c.*2458C>A Single submitter
- p.Ala299Thr Single submitter
- p.Arg14Gln Single submitter ⚠
- p.Arg233Cys Single submitter ⚠
- p.Arg435Gln Single submitter ⚠
- p.Asn289Lys Single submitter ⚠
- p.Asn303Ser Single submitter ⚠
- p.Asp234Tyr Single submitter ⚠
- p.Asp383Gly Single submitter ⚠
- p.Asp406Asn Single submitter ⚠
- p.Gly227Ser Single submitter ⚠
- p.Gly381Glu Single submitter ⚠
- p.Gly384Val Single submitter ⚠
- p.Gly444Arg Single submitter ⚠
- p.Gly92Glu Single submitter ⚠
- p.Ile156Val Single submitter ⚠
- p.Ile209fs Single submitter
- p.Ile229Phe Single submitter ⚠
- p.Ile229Thr Single submitter ⚠
- p.Ile298Val Single submitter ⚠
- p.Ile386Thr Single submitter ⚠
- p.Ile425Val Single submitter ⚠
- p.Ile42Val Single submitter ⚠
- p.Leu153Phe Single submitter ⚠
- p.Leu306Ter Single submitter
- p.Leu319Gln Single submitter ⚠
- p.Lys274Gln Single submitter ⚠
- p.Lys324Asn Single submitter
- p.Met6Ile Single submitter ⚠
- p.Met6Val Single submitter ⚠
- p.Phe142Val Single submitter ⚠
- p.Pro62Leu Single submitter ⚠
- p.Ser69Asn Single submitter ⚠
- p.Thr176Ile Single submitter ⚠
- p.Tyr106Cys Single submitter
- p.Tyr261Cys Single submitter ⚠
- p.Tyr335Cys Single submitter ⚠
- p.Tyr335His Single submitter ⚠
- p.Val169Leu Single submitter ⚠
- p.Val290Ile Single submitter ⚠
- p.Val318Phe Single submitter ⚠
- p.Val331Leu Single submitter ⚠
- p.Val424Ala Single submitter ⚠
- p.Val43Leu Single submitter ⚠
- p.Val43Met Single submitter ⚠
- p.Val440Gly Single submitter ⚠