MBD2 — 36 ClinVar variants
All ClinVar germline MBD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Benign · 35 Uncertain significance
Full MBD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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.
- MBD2 p.Arg394Gln Uncertain significance Single submitter
- MBD2 p.Asp107Asn Uncertain significance Single submitter
- MBD2 p.Gln66Glu Uncertain significance Single submitter
- MBD2 p.Glu125Asp Uncertain significance Single submitter
- MBD2 p.Glu304Lys Uncertain significance Single submitter
- MBD2 p.Gly108Asp Uncertain significance Single submitter
- MBD2 p.Gly112Ser Uncertain significance Single submitter
- MBD2 p.Gly137Val Uncertain significance Single submitter
- MBD2 p.Gly68Arg Uncertain significance Single submitter
- MBD2 p.Gly70Ser Uncertain significance Single submitter
- MBD2 p.Lys65Glu Uncertain significance Single submitter
- MBD2 p.Pro122Ser Uncertain significance Single submitter
- MBD2 p.Pro157Ala Uncertain significance Single submitter
- MBD2 p.Pro357Thr Uncertain significance Single submitter
- MBD2 p.Pro97Ser Uncertain significance Single submitter
- MBD2 p.Ser102Thr Uncertain significance Single submitter
- MBD2 p.Ser116Cys Uncertain significance Single submitter
- MBD2 p.Ser116Gly Uncertain significance Single submitter
- MBD2 p.Thr398Ala Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- MBD2 p.Ala172Val Uncertain significance Single submitter
- MBD2 p.Arg86Leu Uncertain significance Single submitter
- MBD2 p.Arg90Pro Uncertain significance Single submitter
- MBD2 p.Arg92Gly Uncertain significance Single submitter
- MBD2 p.Gly109Cys Uncertain significance Single submitter
- MBD2 p.Gly113Cys Uncertain significance Single submitter
- MBD2 p.Gly93Ser Uncertain significance Single submitter
- MBD2 p.Leu239Phe Uncertain significance Single submitter
- MBD2 p.Lys160Gln Uncertain significance Single submitter
- MBD2 p.Ser146Arg Uncertain significance Single submitter
- MBD2 p.Ser323Phe Uncertain significance Single submitter
- MBD2 p.Thr260Ser Uncertain significance Single submitter
All MBD2 variants
Benign 1
- p.Pro348= Multiple submitters
Uncertain significance 35
- p.Ala172Val Single submitter ⚠
- p.Arg394Gln Single submitter ⚠
- p.Arg86Leu Single submitter ⚠
- p.Arg90Pro Single submitter ⚠
- p.Arg92Gly Single submitter ⚠
- p.Arg94Cys Single submitter
- p.Asp107Asn Single submitter ⚠
- p.Gln66Glu Single submitter ⚠
- p.Glu125Asp Single submitter ⚠
- p.Glu304Lys Single submitter ⚠
- p.Glu385Asp Single submitter
- p.Gly108Asp Single submitter ⚠
- p.Gly109Cys Single submitter ⚠
- p.Gly112Ser Single submitter ⚠
- p.Gly113Cys Single submitter ⚠
- p.Gly137Arg Single submitter
- p.Gly137Val Single submitter ⚠
- p.Gly68Arg Single submitter ⚠
- p.Gly70Ser Single submitter ⚠
- p.Gly93Ser Single submitter ⚠
- p.Gly95Asp Single submitter
- p.Leu239Phe Single submitter ⚠
- p.Lys160Gln Single submitter ⚠
- p.Lys65Glu Single submitter ⚠
- p.Pro122Ser Single submitter ⚠
- p.Pro157Ala Single submitter ⚠
- p.Pro357Thr Single submitter ⚠
- p.Pro97Ser Single submitter ⚠
- p.Ser102Thr Single submitter ⚠
- p.Ser116Cys Single submitter ⚠
- p.Ser116Gly Single submitter ⚠
- p.Ser146Arg Single submitter ⚠
- p.Ser323Phe Single submitter ⚠
- p.Thr260Ser Single submitter ⚠
- p.Thr398Ala Single submitter ⚠