PXMP4 — 34 ClinVar variants
All ClinVar germline PXMP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
2 Likely benign · 32 Uncertain significance
Full PXMP4 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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PXMP4 p.Ala16Ser Uncertain significance Single submitter
- PXMP4 p.Ala48Val Uncertain significance Single submitter
- PXMP4 p.Ala9Thr Uncertain significance Single submitter
- PXMP4 p.Arg209Cys Uncertain significance Single submitter
- PXMP4 p.Arg209Gly Uncertain significance Single submitter
- PXMP4 p.Arg80Gln Uncertain significance Single submitter
- PXMP4 p.Arg8Lys Uncertain significance Single submitter
- PXMP4 p.Asp198Asn Uncertain significance Single submitter
- PXMP4 p.Glu62Asp Uncertain significance Single submitter
- PXMP4 p.Glu62Lys Uncertain significance Single submitter
- PXMP4 p.His197Gln Uncertain significance Single submitter
- PXMP4 p.Ile126Phe Uncertain significance Single submitter
- PXMP4 p.Ile199Val Uncertain significance Single submitter
- PXMP4 p.Leu30Phe Uncertain significance Single submitter
- PXMP4 p.Leu54Phe Uncertain significance Single submitter
- PXMP4 p.Leu68Pro Uncertain significance Single submitter
- PXMP4 p.Phe109Ser Uncertain significance Single submitter
- PXMP4 p.Trp169Arg Uncertain significance Single submitter
- PXMP4 p.Tyr188Cys Uncertain significance Single submitter
- PXMP4 p.Val134Ile Uncertain significance Single submitter
- PXMP4 p.Val195Ile Uncertain significance Single submitter
- PXMP4 p.Val195Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PXMP4 p.Arg19Pro Uncertain significance Single submitter
- PXMP4 p.Arg56Gln Uncertain significance Single submitter
- PXMP4 p.Asn15Lys Uncertain significance Single submitter
- PXMP4 p.Gly112Ser Uncertain significance Single submitter
- PXMP4 p.Pro151Ser Uncertain significance Single submitter
- PXMP4 p.Trp164Ser Uncertain significance Single submitter
All PXMP4 variants
Likely benign 2
- p.Arg80Trp Single submitter
- p.Trp65Arg Single submitter
Uncertain significance 32
- p.Ala161Val Single submitter
- p.Ala16Ser Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg19Pro Single submitter ⚠
- p.Arg209Cys Single submitter ⚠
- p.Arg209Gly Single submitter ⚠
- p.Arg56Gln Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Arg8Lys Single submitter ⚠
- p.Asn15Lys Single submitter ⚠
- p.Asp198Asn Single submitter ⚠
- p.Glu62Asp Single submitter ⚠
- p.Glu62Lys Single submitter ⚠
- p.Gly112Ser Single submitter ⚠
- p.His197Gln Single submitter ⚠
- p.Ile126Phe Single submitter ⚠
- p.Ile199Val Single submitter ⚠
- p.Leu30Phe Single submitter ⚠
- p.Leu54Phe Single submitter ⚠
- p.Leu68Pro Single submitter ⚠
- p.Phe109Ser Single submitter ⚠
- p.Pro151Ser Single submitter ⚠
- p.Ser184Phe Single submitter
- p.Trp164Ser Single submitter ⚠
- p.Trp169Arg Single submitter ⚠
- p.Tyr188Cys Single submitter ⚠
- p.Tyr72Asp Single submitter
- p.Val134Ile Single submitter ⚠
- p.Val167Leu Single submitter
- p.Val195Ile Single submitter ⚠
- p.Val195Leu Single submitter ⚠