DDI2 — 27 ClinVar variants
All ClinVar germline DDI2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
1 Likely benign · 26 Uncertain significance
Full DDI2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDI2 p.Arg108Gln Uncertain significance Single submitter
- DDI2 p.Arg110His Uncertain significance Single submitter
- DDI2 p.Arg277Gln Uncertain significance Single submitter
- DDI2 p.Arg329Trp Uncertain significance Single submitter
- DDI2 p.Arg370Lys Uncertain significance Single submitter
- DDI2 p.Arg93Gln Uncertain significance Single submitter
- DDI2 p.His119Arg Uncertain significance Single submitter
- DDI2 p.Leu2Gln Uncertain significance Single submitter
- DDI2 p.Met141Thr Uncertain significance Single submitter
- DDI2 p.Phe88Leu Uncertain significance Single submitter
- DDI2 p.Ser150Cys Uncertain significance Single submitter
- DDI2 p.Ser311Cys Uncertain significance Single submitter
- DDI2 p.Val373Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- DDI2 p.Ala394Pro Uncertain significance Single submitter
- DDI2 p.Arg108Trp Uncertain significance Single submitter
- DDI2 p.Arg173Gly Uncertain significance Single submitter
- DDI2 p.Arg184Gln Uncertain significance Single submitter
- DDI2 p.Gln117Leu Uncertain significance Single submitter
- DDI2 p.Gln397Arg Uncertain significance Single submitter
- DDI2 p.Ile94Thr Uncertain significance Single submitter
- DDI2 p.Leu387Phe Uncertain significance Single submitter
- DDI2 p.Lys338Arg Uncertain significance Single submitter
- DDI2 p.Met320Val Uncertain significance Single submitter
- DDI2 p.Ser165Cys Uncertain significance Single submitter
- DDI2 p.Val234Leu Uncertain significance Single submitter
All DDI2 variants
Likely benign 1
- p.Asp372= Single submitter
Uncertain significance 26
- p.Ala394Pro Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg108Trp Single submitter ⚠
- p.Arg110His Single submitter ⚠
- p.Arg173Gly Single submitter ⚠
- p.Arg184Gln Single submitter ⚠
- p.Arg277Gln Single submitter ⚠
- p.Arg329Trp Single submitter ⚠
- p.Arg370Lys Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Gln117Leu Single submitter ⚠
- p.Gln397Arg Single submitter ⚠
- p.His119Arg Single submitter ⚠
- p.Ile94Thr Single submitter ⚠
- p.Leu2Gln Single submitter ⚠
- p.Leu387Phe Single submitter ⚠
- p.Lys338Arg Single submitter ⚠
- p.Met141Thr Single submitter ⚠
- p.Met320Val Single submitter ⚠
- p.Phe30= Single submitter
- p.Phe88Leu Single submitter ⚠
- p.Ser150Cys Single submitter ⚠
- p.Ser165Cys Single submitter ⚠
- p.Ser311Cys Single submitter ⚠
- p.Val234Leu Single submitter ⚠
- p.Val373Ile Single submitter ⚠