PGM2 — 88 ClinVar variants
All ClinVar germline PGM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
7 Benign · 5 Likely benign · 76 Uncertain significance
Full PGM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PGM2 p.Ala107Thr Uncertain significance Single submitter
- PGM2 p.Ala121Val Uncertain significance Single submitter
- PGM2 p.Ala277Val Uncertain significance Single submitter
- PGM2 p.Ala2Gly Uncertain significance Single submitter
- PGM2 p.Ala310Asp Uncertain significance Single submitter
- PGM2 p.Ala315Asp Uncertain significance Single submitter
- PGM2 p.Ala325Val Uncertain significance Single submitter
- PGM2 p.Ala517Val Uncertain significance Single submitter
- PGM2 p.Ala555Thr Uncertain significance Single submitter
- PGM2 p.Arg108Gln Uncertain significance Single submitter
- PGM2 p.Arg122Gly Uncertain significance Single submitter
- PGM2 p.Arg366Cys Uncertain significance Single submitter
- PGM2 p.Arg385Gln Uncertain significance Single submitter
- PGM2 p.Arg519Gly Uncertain significance Single submitter
- PGM2 p.Arg558His Uncertain significance Single submitter
- PGM2 p.Asn499Ser Uncertain significance Single submitter
- PGM2 p.Asp16His Uncertain significance Single submitter
- PGM2 p.Asp171Asn Uncertain significance Single submitter
- PGM2 p.Asp208Glu Uncertain significance Single submitter
- PGM2 p.Asp486Asn Uncertain significance Single submitter
- PGM2 p.Asp501Gly Uncertain significance Single submitter
- PGM2 p.Gln603Arg Uncertain significance Single submitter
- PGM2 p.Glu297Lys Uncertain significance Single submitter
- PGM2 p.Glu332Lys Uncertain significance Single submitter
- PGM2 p.Glu587Lys Uncertain significance Single submitter
- PGM2 p.Gly100Val Uncertain significance Single submitter
- PGM2 p.His260Tyr Uncertain significance Single submitter
- PGM2 p.His394Arg Uncertain significance Single submitter
- PGM2 p.Ile141Thr Uncertain significance Single submitter
- PGM2 p.Ile196Thr Uncertain significance Single submitter
- PGM2 p.Ile383Thr Uncertain significance Single submitter
- PGM2 p.Ile413Lys Uncertain significance Single submitter
- PGM2 p.Ile413Thr Uncertain significance Single submitter
- PGM2 p.Ile446Val Uncertain significance Single submitter
- PGM2 p.Ile515Ser Uncertain significance Single submitter
- PGM2 p.Leu328Arg Uncertain significance Single submitter
- PGM2 p.Leu436Met Uncertain significance Single submitter
- PGM2 p.Leu96Val Uncertain significance Single submitter
- PGM2 p.Lys247Glu Uncertain significance Single submitter
- PGM2 p.Lys312Arg Uncertain significance Single submitter
- PGM2 p.Met557Ile Uncertain significance Single submitter
- PGM2 p.Pro148Ser Uncertain significance Single submitter
- PGM2 p.Pro187Ser Uncertain significance Single submitter
- PGM2 p.Pro294Leu Uncertain significance Single submitter
- PGM2 p.Pro575Ser Uncertain significance Single submitter
- PGM2 p.Pro581Thr Uncertain significance Single submitter
- PGM2 p.Ser306Phe Uncertain significance Single submitter
- PGM2 p.Ser539Arg Uncertain significance Single submitter
- PGM2 p.Ser541Asn Uncertain significance Single submitter
- PGM2 p.Thr489Ala Uncertain significance Single submitter
- PGM2 p.Thr538Ser Uncertain significance Single submitter
- PGM2 p.Tyr177Cys Uncertain significance Single submitter
- PGM2 p.Tyr177His Uncertain significance Single submitter
- PGM2 p.Tyr472Cys Uncertain significance Single submitter
- PGM2 p.Tyr506Cys Uncertain significance Single submitter
- PGM2 p.Val176Phe Uncertain significance Single submitter
- PGM2 p.Val341Leu Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- PGM2 p.Ala124Thr Uncertain significance Single submitter
- PGM2 p.Asp283Val Uncertain significance Single submitter
- PGM2 p.Asp95Gly Uncertain significance Single submitter
- PGM2 p.Cys432Arg Uncertain significance Single submitter
- PGM2 p.Gly10Arg Uncertain significance Single submitter
- PGM2 p.Gly67Arg Uncertain significance Single submitter
- PGM2 p.Phe270Leu Uncertain significance Single submitter
- PGM2 p.Phe393Leu Uncertain significance Single submitter
- PGM2 p.Pro221Leu Uncertain significance Single submitter
- PGM2 p.Ser358Pro Uncertain significance Single submitter
- PGM2 p.Thr372Met Uncertain significance Single submitter
- PGM2 p.Tyr373Ser Uncertain significance Single submitter
- PGM2 p.Val242Met Uncertain significance Single submitter
All PGM2 variants
Benign 7
- p.Asp322= Multiple submitters
- c.1008-17T>G Single submitter
- c.1008-22T>G Single submitter
- p.Ala34Thr Single submitter
- p.Glu488Asp Single submitter
- p.Leu572= Single submitter
- p.Ser104= Single submitter
Likely benign 5
- c.250-5T>C Single submitter
- p.Arg37Gln Single submitter
- p.Arg48Gln Single submitter
- p.Asn226Ser Single submitter
- p.Asn321= Single submitter
Uncertain significance 76
- p.Ala107Thr Single submitter ⚠
- p.Ala121Val Single submitter ⚠
- p.Ala124Thr Single submitter ⚠
- p.Ala277Val Single submitter ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala310Asp Single submitter ⚠
- p.Ala315Asp Single submitter ⚠
- p.Ala325Val Single submitter ⚠
- p.Ala386Asp Single submitter
- p.Ala444Thr Single submitter
- p.Ala517Val Single submitter ⚠
- p.Ala555Thr Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg122Gly Single submitter ⚠
- p.Arg366Cys Single submitter ⚠
- p.Arg385Gln Single submitter ⚠
- p.Arg519Gly Single submitter ⚠
- p.Arg558His Single submitter ⚠
- p.Asn499Ser Single submitter ⚠
- p.Asp16His Single submitter ⚠
- p.Asp171Asn Single submitter ⚠
- p.Asp208Glu Single submitter ⚠
- p.Asp283Val Single submitter ⚠
- p.Asp486Asn Single submitter ⚠
- p.Asp501Gly Single submitter ⚠
- p.Asp95Gly Single submitter ⚠
- p.Cys432Arg Single submitter ⚠
- p.Gln603Arg Single submitter ⚠
- p.Glu297Lys Single submitter ⚠
- p.Glu332Lys Single submitter ⚠
- p.Glu587Lys Single submitter ⚠
- p.Gly100Val Single submitter ⚠
- p.Gly10Arg Single submitter ⚠
- p.Gly67Arg Single submitter ⚠
- p.His260Tyr Single submitter ⚠
- p.His394Arg Single submitter ⚠
- p.Ile141Thr Single submitter ⚠
- p.Ile196Thr Single submitter ⚠
- p.Ile383Thr Single submitter ⚠
- p.Ile413Lys Single submitter ⚠
- p.Ile413Thr Single submitter ⚠
- p.Ile446Val Single submitter ⚠
- p.Ile515Ser Single submitter ⚠
- p.Leu328Arg Single submitter ⚠
- p.Leu436Met Single submitter ⚠
- p.Leu96Val Single submitter ⚠
- p.Lys247Glu Single submitter ⚠
- p.Lys312Arg Single submitter ⚠
- p.Met557Ile Single submitter ⚠
- p.Phe270Leu Single submitter ⚠
- p.Phe393Leu Single submitter ⚠
- p.Pro148Ser Single submitter ⚠
- p.Pro187Ser Single submitter ⚠
- p.Pro221Leu Single submitter ⚠
- p.Pro284Leu Single submitter
- p.Pro286Leu Single submitter
- p.Pro294Leu Single submitter ⚠
- p.Pro575Ser Single submitter ⚠
- p.Pro581Thr Single submitter ⚠
- p.Ser306Phe Single submitter ⚠
- p.Ser358Pro Single submitter ⚠
- p.Ser539Arg Single submitter ⚠
- p.Ser541Asn Single submitter ⚠
- p.Thr372Met Single submitter ⚠
- p.Thr489Ala Single submitter ⚠
- p.Thr538Ser Single submitter ⚠
- p.Thr559Pro Single submitter
- p.Tyr177Cys Single submitter ⚠
- p.Tyr177His Single submitter ⚠
- p.Tyr373Ser Single submitter ⚠
- p.Tyr472Cys Single submitter ⚠
- p.Tyr506Cys Single submitter ⚠
- p.Val176Phe Single submitter ⚠
- p.Val242Met Single submitter ⚠
- p.Val341Leu Single submitter ⚠
- p.Val379Ile Single submitter