GAGE2D — 12 ClinVar variants
All ClinVar germline GAGE2D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
2 Likely benign · 10 Uncertain significance
Full GAGE2D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GAGE2D c.218C>T Uncertain significance Single submitter
- GAGE2D c.221A>T Uncertain significance Single submitter
- GAGE2D c.224G>C Uncertain significance Single submitter
- GAGE2D c.49G>A Uncertain significance Single submitter
- GAGE2D c.58C>G Uncertain significance Single submitter
- GAGE2D c.59C>G Uncertain significance Single submitter
- GAGE2D c.69T>G Uncertain significance Single submitter
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GAGE2D p.Pro69Ser
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 1
The independent predictors disagree with each other — read with care.
All GAGE2D variants
Likely benign 2
- c.236G>T Single submitter
- p.Met96Val Single submitter Inborn genetic diseases