GNPDA1 — 28 ClinVar variants
All ClinVar germline GNPDA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
28 Uncertain significance
Full GNPDA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GNPDA1 p.Arg234Cys Uncertain significance Single submitter
- GNPDA1 p.Asp113Asn Uncertain significance Single submitter
- GNPDA1 p.Gln26Arg Uncertain significance Single submitter
- GNPDA1 p.Gly205Arg Uncertain significance Single submitter
- GNPDA1 p.Gly30Glu Uncertain significance Single submitter
- GNPDA1 p.His96Pro Uncertain significance Single submitter
- GNPDA1 p.Ile20Ser Uncertain significance Single submitter
- GNPDA1 p.Ile216Thr Uncertain significance Single submitter
- GNPDA1 p.Ile97Val Uncertain significance Single submitter
- GNPDA1 p.Leu107Pro Uncertain significance Single submitter
- GNPDA1 p.Leu6Val Uncertain significance Single submitter
- GNPDA1 p.Met194Val Uncertain significance Single submitter
- GNPDA1 p.Ser283Leu Uncertain significance Single submitter
- GNPDA1 p.Thr104Ile Uncertain significance Single submitter
- GNPDA1 p.Thr68Ile Uncertain significance Single submitter
- GNPDA1 p.Val188Ala Uncertain significance Single submitter
- GNPDA1 p.Val236Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- GNPDA1 p.Asn110Thr Uncertain significance Single submitter
- GNPDA1 p.Asn92Ser Uncertain significance Single submitter
- GNPDA1 p.Glu132Lys Uncertain significance Single submitter
- GNPDA1 p.Glu14Lys Uncertain significance Single submitter
- GNPDA1 p.Gly47Ala Uncertain significance Single submitter
- GNPDA1 p.Ile138Val Uncertain significance Single submitter
- GNPDA1 p.Met89Thr Uncertain significance Single submitter
- GNPDA1 p.Pro82Leu Uncertain significance Single submitter
- GNPDA1 p.Val154Met Uncertain significance Single submitter
All GNPDA1 variants
Uncertain significance 28
- p.Ala209Gly Single submitter
- p.Arg234Cys Single submitter ⚠
- p.Asn110Thr Single submitter ⚠
- p.Asn92Ser Single submitter ⚠
- p.Asp113Asn Single submitter ⚠
- p.Gln26Arg Single submitter ⚠
- p.Glu132Lys Single submitter ⚠
- p.Glu14Lys Single submitter ⚠
- p.Gly205Arg Single submitter ⚠
- p.Gly30Glu Single submitter ⚠
- p.Gly47Ala Single submitter ⚠
- p.His96Pro Single submitter ⚠
- p.Ile138Val Single submitter ⚠
- p.Ile20Ser Single submitter ⚠
- p.Ile216Thr Single submitter ⚠
- p.Ile97Val Single submitter ⚠
- p.Leu107Pro Single submitter ⚠
- p.Leu6Val Single submitter ⚠
- p.Met194Val Single submitter ⚠
- p.Met89Thr Single submitter ⚠
- p.Pro82Leu Single submitter ⚠
- p.Ser283Leu Single submitter ⚠
- p.Thr104Ile Single submitter ⚠
- p.Thr68Ile Single submitter ⚠
- p.Val154Glu Single submitter
- p.Val154Met Single submitter ⚠
- p.Val188Ala Single submitter ⚠
- p.Val236Met Single submitter ⚠