MB — 25 ClinVar variants
All ClinVar germline MB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
1 Pathogenic/Likely pathogenic · 2 Benign · 2 Likely benign · 20 Uncertain significance
Full MB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MB p.Ala72Thr Uncertain significance Single submitter
- MB p.Ala95Val Uncertain significance Single submitter
- MB p.Glu149Asp Uncertain significance Single submitter
- MB p.Ile31Thr Uncertain significance Single submitter
- MB p.Leu136Gln Uncertain significance Single submitter
- MB p.Met132Lys Uncertain significance Single submitter
- MB p.Met56Thr Uncertain significance Single submitter
- MB p.Pro121Ala Uncertain significance Single submitter
- MB p.Ser118Arg Uncertain significance Single submitter
- MB p.Trp15Cys Uncertain significance Single submitter
- MB p.Trp15Ser Uncertain significance Single submitter
- MB p.Val69Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- MB p.Leu150Pro Uncertain significance Multiple submitters
- MB p.Arg140Trp Uncertain significance Single submitter
- MB p.Glu55Lys Uncertain significance Single submitter
- MB p.Gly122Arg Uncertain significance Single submitter
- MB p.Ile108Phe Uncertain significance Single submitter
- MB p.Leu30Phe Uncertain significance Single submitter
- MB p.Pro101Thr Uncertain significance Single submitter
All MB variants
Pathogenic/Likely pathogenic 1
- p.His98Tyr Multiple submitters myopathy, sarcoplasmic body
Likely benign 2
- c.318+7dup Single submitter
- p.Ser93= Single submitter
Uncertain significance 20
- p.Leu150Pro Multiple submitters ⚠
- p.Ala72Thr Single submitter ⚠
- p.Ala95Val Single submitter ⚠
- p.Arg140Trp Single submitter ⚠
- p.Asp142Gly Single submitter
- p.Glu149Asp Single submitter ⚠
- p.Glu55Lys Single submitter ⚠
- p.Gly122Arg Single submitter ⚠
- p.Ile108Phe Single submitter ⚠
- p.Ile31Thr Single submitter ⚠
- p.Leu136Gln Single submitter ⚠
- p.Leu30Phe Single submitter ⚠
- p.Met132Lys Single submitter ⚠
- p.Met56Thr Single submitter ⚠
- p.Pro101Thr Single submitter ⚠
- p.Pro121Ala Single submitter ⚠
- p.Ser118Arg Single submitter ⚠
- p.Trp15Cys Single submitter ⚠
- p.Trp15Ser Single submitter ⚠
- p.Val69Met Single submitter ⚠