INPP5D — 9 ClinVar variants
All ClinVar germline INPP5D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
1 Benign · 8 Uncertain significance
Full INPP5D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All INPP5D variants
Benign 1
- p.Gly432= Single submitter
Uncertain significance 8
- c.1437+2T>C Single submitter severe combined immunodeficiency
- c.350-2A>G Single submitter
- p.Ala152Val Single submitter ⚠
- p.Arg38Gln Single submitter ⚠
- p.Glu125Lys Single submitter ⚠
- p.Glu154Lys Single submitter ⚠
- p.Lys365fs Single submitter
- p.Val143Leu Single submitter ⚠