M6PR — 24 ClinVar variants
All ClinVar germline M6PR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
24 Uncertain significance
Full M6PR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- M6PR p.Ala151Val Uncertain significance Single submitter
- M6PR p.Ala20Val Uncertain significance Single submitter
- M6PR p.Arg147Gln Uncertain significance Single submitter
- M6PR p.Arg161His Uncertain significance Single submitter
- M6PR p.Arg22Lys Uncertain significance Single submitter
- M6PR p.Arg79Gln Uncertain significance Single submitter
- M6PR p.Asn146Ser Uncertain significance Single submitter
- M6PR p.Asp174Asn Uncertain significance Single submitter
- M6PR p.Asp238Gly Uncertain significance Single submitter
- M6PR p.Glu61Asp Uncertain significance Single submitter
- M6PR p.Ile118Asn Uncertain significance Single submitter
- M6PR p.Ile93Val Uncertain significance Single submitter
- M6PR p.Leu199Val Uncertain significance Single submitter
- M6PR p.Lys58Glu Uncertain significance Single submitter
- M6PR p.Met277Val Uncertain significance Single submitter
- M6PR p.Ser62Asn Uncertain significance Single submitter
- M6PR p.Ser96Thr Uncertain significance Single submitter
- M6PR p.Trp25Arg Uncertain significance Single submitter
- M6PR p.Trp25Cys Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All M6PR variants
Uncertain significance 24
- p.Ala151Val Single submitter ⚠
- p.Ala20Val Single submitter ⚠
- p.Arg147Gln Single submitter ⚠
- p.Arg161His Single submitter ⚠
- p.Arg22Lys Single submitter ⚠
- p.Arg245His Single submitter ⚠
- p.Arg79Gln Single submitter ⚠
- p.Asn146Ser Single submitter ⚠
- p.Asp174Asn Single submitter ⚠
- p.Asp238Gly Single submitter ⚠
- p.Glu159Asp Single submitter ⚠
- p.Glu266Lys Single submitter ⚠
- p.Glu61Asp Single submitter ⚠
- p.Gly124Arg Single submitter
- p.Ile118Asn Single submitter ⚠
- p.Ile93Val Single submitter ⚠
- p.Leu199Val Single submitter ⚠
- p.Leu275Val Single submitter ⚠
- p.Lys58Glu Single submitter ⚠
- p.Met277Val Single submitter ⚠
- p.Ser62Asn Single submitter ⚠
- p.Ser96Thr Single submitter ⚠
- p.Trp25Arg Single submitter ⚠
- p.Trp25Cys Single submitter ⚠