MGLL — 43 ClinVar variants
All ClinVar germline MGLL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
5 Benign · 7 Likely benign · 31 Uncertain significance
Full MGLL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MGLL p.Ala174Val Uncertain significance Single submitter
- MGLL p.Ala233Thr Uncertain significance Single submitter
- MGLL p.Ala305Thr Uncertain significance Single submitter
- MGLL p.Arg232His Uncertain significance Single submitter
- MGLL p.Arg73Gly Uncertain significance Single submitter
- MGLL p.Asp268Glu Uncertain significance Single submitter
- MGLL p.Cys252Trp Uncertain significance Single submitter
- MGLL p.Glu70Asp Uncertain significance Single submitter
- MGLL p.His148Tyr Uncertain significance Single submitter
- MGLL p.Leu260Ile Uncertain significance Single submitter
- MGLL p.Met152Ile Uncertain significance Single submitter
- MGLL p.Val227Ile Uncertain significance Single submitter
- MGLL p.Val300Ile Uncertain significance Single submitter
- MGLL p.Val33Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- MGLL p.Ala136Thr Uncertain significance Single submitter
- MGLL p.Arg229Trp Uncertain significance Single submitter
- MGLL p.Arg250Cys Uncertain significance Single submitter
- MGLL p.Asp115Tyr Uncertain significance Single submitter
- MGLL p.Asp202Asn Uncertain significance Single submitter
- MGLL p.Cys42Gly Uncertain significance Single submitter
- MGLL p.Glu144Lys Uncertain significance Single submitter
- MGLL p.Glu231Ala Uncertain significance Single submitter
- MGLL p.Leu128Phe Uncertain significance Single submitter
- MGLL p.Leu81Gln Uncertain significance Single submitter
- MGLL p.Met117Thr Uncertain significance Single submitter
- MGLL p.Pro125Ser Uncertain significance Single submitter
- MGLL p.Pro146Leu Uncertain significance Single submitter
- MGLL p.Pro21Leu Uncertain significance Single submitter
- MGLL p.Pro30Ser Uncertain significance Single submitter
- MGLL p.Ser16Phe Benign Single submitter
- MGLL p.Thr20Ile Uncertain significance Single submitter
-
MGLL p.Gly220Ser
Likely benign
No assertion criteria
MGLL-related disorder
-
MGLL p.Val107Ile
Likely benign
No assertion criteria
MGLL-related disorder
All MGLL variants
Benign 5
Likely benign 7
- p.Ala138Thr Single submitter
- p.His294Arg Single submitter
- c.155+7C>G No assertion criteria MGLL-related disorder
- p.Ala307Thr No assertion criteria MGLL-related disorder
- p.Gly220Ser No assertion criteria MGLL-related disorder ⚠
- p.Ser291= No assertion criteria MGLL-related disorder
- p.Val107Ile No assertion criteria MGLL-related disorder ⚠
Uncertain significance 31
- p.Ala136Thr Single submitter ⚠
- p.Ala174Val Single submitter ⚠
- p.Ala233Thr Single submitter ⚠
- p.Ala305Thr Single submitter ⚠
- p.Arg229Trp Single submitter ⚠
- p.Arg232His Single submitter ⚠
- p.Arg250Cys Single submitter ⚠
- p.Arg73Gly Single submitter ⚠
- p.Asp115Tyr Single submitter ⚠
- p.Asp202Asn Single submitter ⚠
- p.Asp268Glu Single submitter ⚠
- p.Cys252Trp Single submitter ⚠
- p.Cys42Gly Single submitter ⚠
- p.Glu144Lys Single submitter ⚠
- p.Glu231Ala Single submitter ⚠
- p.Glu70Asp Single submitter ⚠
- p.His148Tyr Single submitter ⚠
- p.Leu128Phe Single submitter ⚠
- p.Leu260Ile Single submitter ⚠
- p.Leu81Gln Single submitter ⚠
- p.Met117Thr Single submitter ⚠
- p.Met152Ile Single submitter ⚠
- p.Pro125Ser Single submitter ⚠
- p.Pro146Leu Single submitter ⚠
- p.Pro21Leu Single submitter ⚠
- p.Pro30Ser Single submitter ⚠
- p.Ser10Thr Single submitter
- p.Thr20Ile Single submitter ⚠
- p.Val227Ile Single submitter ⚠
- p.Val300Ile Single submitter ⚠
- p.Val33Ile Single submitter ⚠