GMPS — 64 ClinVar variants
All ClinVar germline GMPS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
6 Benign · 58 Uncertain significance
Full GMPS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GMPS p.Ala175Glu Uncertain significance Single submitter
- GMPS p.Ala488Thr Uncertain significance Single submitter
- GMPS p.Ala605Val Uncertain significance Single submitter
- GMPS p.Arg169Cys Uncertain significance Single submitter
- GMPS p.Arg524Cys Uncertain significance Single submitter
- GMPS p.Arg548Thr Uncertain significance Single submitter
- GMPS p.Arg589Cys Uncertain significance Single submitter
- GMPS p.Asn135Asp Uncertain significance Single submitter
- GMPS p.Asn221Lys Uncertain significance Single submitter
- GMPS p.Asn597Asp Uncertain significance Single submitter
- GMPS p.Asn597Ser Uncertain significance Single submitter
- GMPS p.Asn655Ser Uncertain significance Single submitter
- GMPS p.Asp342Tyr Uncertain significance Single submitter
- GMPS p.Asp458Ala Uncertain significance Single submitter
- GMPS p.Cys213Tyr Uncertain significance Single submitter
- GMPS p.Gln220Arg Uncertain significance Single submitter
- GMPS p.Gln484Arg Uncertain significance Single submitter
- GMPS p.Gln520Arg Uncertain significance Single submitter
- GMPS p.Glu25Val Uncertain significance Single submitter
- GMPS p.Glu396Asp Uncertain significance Single submitter
- GMPS p.Gly291Glu Uncertain significance Single submitter
- GMPS p.Gly565Cys Uncertain significance Single submitter
- GMPS p.His415Arg Uncertain significance Single submitter
- GMPS p.His596Tyr Uncertain significance Single submitter
- GMPS p.Ile173Thr Uncertain significance Single submitter
- GMPS p.Ile72Val Uncertain significance Single submitter
- GMPS p.Ile73Val Uncertain significance Single submitter
- GMPS p.Leu379Pro Uncertain significance Single submitter
- GMPS p.Leu625Phe Uncertain significance Single submitter
- GMPS p.Lys288Arg Uncertain significance Single submitter
- GMPS p.Lys400Asn Uncertain significance Single submitter
- GMPS p.Lys515Arg Uncertain significance Single submitter
- GMPS p.Lys9Gln Uncertain significance Single submitter
- GMPS p.Met329Thr Uncertain significance Single submitter
- GMPS p.Met499Thr Uncertain significance Single submitter
- GMPS p.Phe593Ser Uncertain significance Single submitter
- GMPS p.Pro371Thr Uncertain significance Single submitter
- GMPS p.Pro566Ser Uncertain significance Single submitter
- GMPS p.Pro567Leu Uncertain significance Single submitter
- GMPS p.Ser302Cys Uncertain significance Single submitter
- GMPS p.Thr236Met Uncertain significance Single submitter
- GMPS p.Thr326Met Uncertain significance Single submitter
- GMPS p.Thr343Asn Uncertain significance Single submitter
- GMPS p.Thr395Arg Uncertain significance Single submitter
- GMPS p.Tyr105Cys Uncertain significance Single submitter
- GMPS p.Tyr24Cys Uncertain significance Single submitter
- GMPS p.Val529Ala Uncertain significance Single submitter
- GMPS p.Val529Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- GMPS p.Tyr528Ser Benign Multiple submitters
- GMPS p.Arg70Cys Uncertain significance Single submitter
- GMPS p.Glu350Lys Uncertain significance Single submitter
- GMPS p.Ile563Met Uncertain significance Single submitter
- GMPS p.Leu195Phe Uncertain significance Single submitter
- GMPS p.Ser534Asn Uncertain significance Single submitter
- GMPS p.Thr218Ile Uncertain significance Single submitter
- GMPS p.Tyr37His Uncertain significance Single submitter
All GMPS variants
Benign 6
- c.209+5A>G Multiple submitters
- p.Phe593= Multiple submitters
- p.Thr236= Multiple submitters
- p.Tyr528Ser Multiple submitters ⚠
- c.27+9G>T Single submitter
- p.Ile339= Single submitter
Uncertain significance 58
- p.Ala175Glu Single submitter ⚠
- p.Ala488Thr Single submitter ⚠
- p.Ala605Val Single submitter ⚠
- p.Arg169Cys Single submitter ⚠
- p.Arg524Cys Single submitter ⚠
- p.Arg548Thr Single submitter ⚠
- p.Arg552His Single submitter
- p.Arg589Cys Single submitter ⚠
- p.Arg70Cys Single submitter ⚠
- p.Asn135Asp Single submitter ⚠
- p.Asn221Lys Single submitter ⚠
- p.Asn597Asp Single submitter ⚠
- p.Asn597Ser Single submitter ⚠
- p.Asn655Ser Single submitter ⚠
- p.Asp316Gly Single submitter
- p.Asp342Tyr Single submitter ⚠
- p.Asp458Ala Single submitter ⚠
- p.Cys213Tyr Single submitter ⚠
- p.Gln220Arg Single submitter ⚠
- p.Gln484Arg Single submitter ⚠
- p.Gln520Arg Single submitter ⚠
- p.Glu25Val Single submitter ⚠
- p.Glu350Lys Single submitter ⚠
- p.Glu396Asp Single submitter ⚠
- p.Gly291Glu Single submitter ⚠
- p.Gly565Cys Single submitter ⚠
- p.His415Arg Single submitter ⚠
- p.His596Tyr Single submitter ⚠
- p.Ile173Thr Single submitter ⚠
- p.Ile563Met Single submitter ⚠
- p.Ile72Val Single submitter ⚠
- p.Ile73Val Single submitter ⚠
- p.Leu195Phe Single submitter ⚠
- p.Leu379Pro Single submitter ⚠
- p.Leu625Phe Single submitter ⚠
- p.Lys288Arg Single submitter ⚠
- p.Lys400Asn Single submitter ⚠
- p.Lys515Arg Single submitter ⚠
- p.Lys9Gln Single submitter ⚠
- p.Met329Thr Single submitter ⚠
- p.Met499Thr Single submitter ⚠
- p.Phe593Ser Single submitter ⚠
- p.Pro371Thr Single submitter ⚠
- p.Pro566Ser Single submitter ⚠
- p.Pro567Leu Single submitter ⚠
- p.Ser302Cys Single submitter ⚠
- p.Ser534Asn Single submitter ⚠
- p.Thr218Ile Single submitter ⚠
- p.Thr236Met Single submitter ⚠
- p.Thr326Met Single submitter ⚠
- p.Thr331Arg Single submitter
- p.Thr343Asn Single submitter ⚠
- p.Thr395Arg Single submitter ⚠
- p.Tyr105Cys Single submitter ⚠
- p.Tyr24Cys Single submitter ⚠
- p.Tyr37His Single submitter ⚠
- p.Val529Ala Single submitter ⚠
- p.Val529Met Single submitter ⚠