PSTPIP2 — 25 ClinVar variants
All ClinVar germline PSTPIP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
3 Likely benign · 22 Uncertain significance
Full PSTPIP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSTPIP2 p.Ala215Thr Uncertain significance Single submitter
- PSTPIP2 p.Ala306Thr Uncertain significance Single submitter
- PSTPIP2 p.Ala76Ser Uncertain significance Single submitter
- PSTPIP2 p.Arg223Gln Uncertain significance Single submitter
- PSTPIP2 p.Arg272His Uncertain significance Single submitter
- PSTPIP2 p.Arg308Gly Uncertain significance Single submitter
- PSTPIP2 p.Asn286Asp Uncertain significance Single submitter
- PSTPIP2 p.Glu107Val Uncertain significance Single submitter
- PSTPIP2 p.Gly302Arg Uncertain significance Single submitter
- PSTPIP2 p.His234Arg Uncertain significance Single submitter
- PSTPIP2 p.Ile15Phe Uncertain significance Single submitter
- PSTPIP2 p.Leu164Gln Uncertain significance Single submitter
- PSTPIP2 p.Leu311Val Uncertain significance Single submitter
- PSTPIP2 p.Met192Thr Uncertain significance Single submitter
- PSTPIP2 p.Met283Thr Uncertain significance Single submitter
- PSTPIP2 p.Thr18Asn Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PSTPIP2 variants
Likely benign 3
- p.Ala13Ser Single submitter
- p.Asn86Ser Single submitter
- p.Ile195Val Single submitter
Uncertain significance 22
- p.Ala215Thr Single submitter ⚠
- p.Ala306Thr Single submitter ⚠
- p.Ala76Ser Single submitter ⚠
- p.Arg149Gln Single submitter ⚠
- p.Arg223Gln Single submitter ⚠
- p.Arg272His Single submitter ⚠
- p.Arg308Gly Single submitter ⚠
- p.Arg32Leu Single submitter ⚠
- p.Asn286Asp Single submitter ⚠
- p.Gln112Glu Single submitter
- p.Glu107Val Single submitter ⚠
- p.Gly302Arg Single submitter ⚠
- p.His234Arg Single submitter ⚠
- p.Ile15Phe Single submitter ⚠
- p.Ile265Thr Single submitter ⚠
- p.Leu164Gln Single submitter ⚠
- p.Leu311Val Single submitter ⚠
- p.Met123Thr Single submitter ⚠
- p.Met192Thr Single submitter ⚠
- p.Met283Thr Single submitter ⚠
- p.Ser187Leu Single submitter ⚠
- p.Thr18Asn Single submitter ⚠