DMBX1 — 60 ClinVar variants
All ClinVar germline DMBX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
1 Likely pathogenic · 2 Benign · 6 Likely benign · 51 Uncertain significance
Full DMBX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DMBX1 c.155-10A>T Uncertain significance Single submitter
- DMBX1 p.Ala239Val Uncertain significance Single submitter
- DMBX1 p.Ala367Thr Uncertain significance Single submitter
- DMBX1 p.Ala43Val Uncertain significance Single submitter
- DMBX1 p.Arg122Gln Uncertain significance Single submitter
- DMBX1 p.Arg164Cys Uncertain significance Single submitter
- DMBX1 p.Arg194Cys Uncertain significance Single submitter
- DMBX1 p.Arg194Gly Uncertain significance Single submitter
- DMBX1 p.Arg362Trp Uncertain significance Single submitter
- DMBX1 p.Arg38Trp Uncertain significance Single submitter
- DMBX1 p.Arg98Gly Uncertain significance Single submitter
- DMBX1 p.Asp169Glu Uncertain significance Single submitter
- DMBX1 p.Gln125His Uncertain significance Single submitter
- DMBX1 p.Gln77Lys Uncertain significance Single submitter
- DMBX1 p.Glu160Gly Uncertain significance Single submitter
- DMBX1 p.Gly144Glu Uncertain significance Single submitter
- DMBX1 p.Gly201Arg Uncertain significance Single submitter
- DMBX1 p.Gly241Arg Uncertain significance Single submitter
- DMBX1 p.Gly301Cys Uncertain significance Single submitter
- DMBX1 p.Gly371Arg Uncertain significance Single submitter
- DMBX1 p.His249Asn Uncertain significance Single submitter
- DMBX1 p.Leu157Pro Uncertain significance Single submitter
- DMBX1 p.Met269Thr Uncertain significance Single submitter
- DMBX1 p.Pro151Ala Uncertain significance Single submitter
- DMBX1 p.Pro163Leu Uncertain significance Single submitter
- DMBX1 p.Pro188Ser Uncertain significance Single submitter
- DMBX1 p.Pro286Leu Uncertain significance Single submitter
- DMBX1 p.Ser248Phe Uncertain significance Single submitter
- DMBX1 p.Ser320Thr Uncertain significance Single submitter
- DMBX1 p.Ser369Phe Uncertain significance Single submitter
- DMBX1 p.Thr152Ser Uncertain significance Single submitter
- DMBX1 p.Thr374Met Uncertain significance Single submitter
- DMBX1 p.Val302Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- DMBX1 p.Ala213Val Uncertain significance Single submitter
- DMBX1 p.Ala27Ser Uncertain significance Single submitter
- DMBX1 p.Ala291Thr Uncertain significance Single submitter
- DMBX1 p.Ala295Thr Uncertain significance Single submitter
- DMBX1 p.Ala367Ser Uncertain significance Single submitter
- DMBX1 p.Arg266His Uncertain significance Single submitter
- DMBX1 p.Gln313Arg Uncertain significance Single submitter
- DMBX1 p.Gly284Glu Uncertain significance Single submitter
- DMBX1 p.Gly285Cys Uncertain significance Single submitter
- DMBX1 p.Ile54Val Uncertain significance Single submitter
- DMBX1 p.Pro306Leu Uncertain significance Single submitter
- DMBX1 p.Pro333Leu Uncertain significance Single submitter
- DMBX1 p.Pro336Arg Uncertain significance Single submitter
- DMBX1 p.Ser186Leu Uncertain significance Single submitter
- DMBX1 p.Ser210Cys Uncertain significance Single submitter
- DMBX1 p.Ser279Leu Uncertain significance Single submitter
- DMBX1 p.Thr234Ile Uncertain significance Single submitter
- DMBX1 p.Thr272Asn Uncertain significance Single submitter
All DMBX1 variants
Likely pathogenic 1
- p.Arg118Trp No assertion criteria Global developmental delay
Benign 2
- p.Ala148= No assertion criteria DMBX1-related disorder
- p.Ala200Pro No assertion criteria DMBX1-related disorder
Likely benign 6
- p.Leu78= Single submitter
- p.Pro192Leu Single submitter
- p.Glu185= No assertion criteria DMBX1-related disorder
- p.Gly285Ala No assertion criteria DMBX1-related disorder
- p.Leu335= No assertion criteria DMBX1-related disorder
- p.Ser279= No assertion criteria DMBX1-related disorder
Uncertain significance 51
- c.155-10A>T Single submitter ⚠
- p.Ala213Val Single submitter ⚠
- p.Ala239Val Single submitter ⚠
- p.Ala27Ser Single submitter ⚠
- p.Ala291Thr Single submitter ⚠
- p.Ala295Thr Single submitter ⚠
- p.Ala367Ser Single submitter ⚠
- p.Ala367Thr Single submitter ⚠
- p.Ala43Val Single submitter ⚠
- p.Arg122Gln Single submitter ⚠
- p.Arg164Cys Single submitter ⚠
- p.Arg194Cys Single submitter ⚠
- p.Arg194Gly Single submitter ⚠
- p.Arg266His Single submitter ⚠
- p.Arg362Trp Single submitter ⚠
- p.Arg38Trp Single submitter ⚠
- p.Arg98Gly Single submitter ⚠
- p.Asp169Glu Single submitter ⚠
- p.Gln125His Single submitter ⚠
- p.Gln313Arg Single submitter ⚠
- p.Gln77Lys Single submitter ⚠
- p.Glu160Gly Single submitter ⚠
- p.Gly144Glu Single submitter ⚠
- p.Gly201Arg Single submitter ⚠
- p.Gly241Arg Single submitter ⚠
- p.Gly284Glu Single submitter ⚠
- p.Gly285Cys Single submitter ⚠
- p.Gly301Cys Single submitter ⚠
- p.Gly371Arg Single submitter ⚠
- p.His249Asn Single submitter ⚠
- p.Ile54Val Single submitter ⚠
- p.Leu157Pro Single submitter ⚠
- p.Met269Thr Single submitter ⚠
- p.Pro151Ala Single submitter ⚠
- p.Pro163Leu Single submitter ⚠
- p.Pro188Ser Single submitter ⚠
- p.Pro286Leu Single submitter ⚠
- p.Pro306Leu Single submitter ⚠
- p.Pro333Leu Single submitter ⚠
- p.Pro336Arg Single submitter ⚠
- p.Ser186Leu Single submitter ⚠
- p.Ser210Cys Single submitter ⚠
- p.Ser248Phe Single submitter ⚠
- p.Ser279Leu Single submitter ⚠
- p.Ser320Thr Single submitter ⚠
- p.Ser369Phe Single submitter ⚠
- p.Thr152Ser Single submitter ⚠
- p.Thr234Ile Single submitter ⚠
- p.Thr272Asn Single submitter ⚠
- p.Thr374Met Single submitter ⚠
- p.Val302Ile Single submitter ⚠