EBAG9 — 30 ClinVar variants
All ClinVar germline EBAG9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Benign · 1 Likely benign · 28 Uncertain significance
Full EBAG9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EBAG9 p.Ala2Thr Uncertain significance Single submitter
- EBAG9 p.Arg28Gly Uncertain significance Single submitter
- EBAG9 p.Arg33Trp Uncertain significance Single submitter
- EBAG9 p.Arg7Gln Uncertain significance Single submitter
- EBAG9 p.Asp122Glu Uncertain significance Single submitter
- EBAG9 p.Asp136Tyr Uncertain significance Single submitter
- EBAG9 p.Asp56Ala Uncertain significance Single submitter
- EBAG9 p.Gln135Arg Uncertain significance Single submitter
- EBAG9 p.Gln168Glu Uncertain significance Single submitter
- EBAG9 p.Gln54Lys Uncertain significance Single submitter
- EBAG9 p.Gln5Arg Uncertain significance Single submitter
- EBAG9 p.Glu187Lys Uncertain significance Single submitter
- EBAG9 p.Ile40Val Uncertain significance Single submitter
- EBAG9 p.Lys203Arg Uncertain significance Single submitter
- EBAG9 p.Thr134Ala Uncertain significance Single submitter
- EBAG9 p.Thr17Ala Uncertain significance Single submitter
- EBAG9 p.Thr4Ile Uncertain significance Single submitter
- EBAG9 p.Val51Ala Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- EBAG9 p.Arg199Gln Uncertain significance Single submitter
- EBAG9 p.Gln188Glu Uncertain significance Single submitter
- EBAG9 p.Glu114Gly Uncertain significance Single submitter
- EBAG9 p.Glu74Lys Uncertain significance Single submitter
- EBAG9 p.Leu35Ser Uncertain significance Single submitter
- EBAG9 p.Met193Arg Uncertain significance Single submitter
- EBAG9 p.Pro115Leu Uncertain significance Single submitter
- EBAG9 p.Ser128Cys Uncertain significance Single submitter
- EBAG9 p.Thr134Ile Uncertain significance Single submitter
- EBAG9 p.Thr44Ile Uncertain significance Single submitter
All EBAG9 variants
Benign 1
- c.162+5G>T Multiple submitters
Likely benign 1
- p.Arg28= Single submitter
Uncertain significance 28
- p.Ala2Thr Single submitter ⚠
- p.Arg199Gln Single submitter ⚠
- p.Arg28Gly Single submitter ⚠
- p.Arg33Trp Single submitter ⚠
- p.Arg7Gln Single submitter ⚠
- p.Asp122Glu Single submitter ⚠
- p.Asp136Tyr Single submitter ⚠
- p.Asp56Ala Single submitter ⚠
- p.Gln135Arg Single submitter ⚠
- p.Gln168Glu Single submitter ⚠
- p.Gln188Glu Single submitter ⚠
- p.Gln54Lys Single submitter ⚠
- p.Gln5Arg Single submitter ⚠
- p.Glu114Gly Single submitter ⚠
- p.Glu187Lys Single submitter ⚠
- p.Glu74Lys Single submitter ⚠
- p.Ile40Val Single submitter ⚠
- p.Leu35Ser Single submitter ⚠
- p.Lys203Arg Single submitter ⚠
- p.Met193Arg Single submitter ⚠
- p.Pro115Leu Single submitter ⚠
- p.Ser128Cys Single submitter ⚠
- p.Thr134Ala Single submitter ⚠
- p.Thr134Ile Single submitter ⚠
- p.Thr17Ala Single submitter ⚠
- p.Thr44Ile Single submitter ⚠
- p.Thr4Ile Single submitter ⚠
- p.Val51Ala Single submitter ⚠