DGKB — 41 ClinVar variants
All ClinVar germline DGKB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
3 Likely benign · 38 Uncertain significance
Full DGKB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DGKB p.Ala115Thr Uncertain significance Single submitter
- DGKB p.Ala417Thr Uncertain significance Single submitter
- DGKB p.Arg110Ile Uncertain significance Single submitter
- DGKB p.Arg120Gln Uncertain significance Single submitter
- DGKB p.Arg530Gly Uncertain significance Single submitter
- DGKB p.Asn412Asp Uncertain significance Single submitter
- DGKB p.Asp423Glu Uncertain significance Single submitter
- DGKB p.Asp59Gly Uncertain significance Single submitter
- DGKB p.Gly114Ser Uncertain significance Single submitter
- DGKB p.His682Gln Uncertain significance Single submitter
- DGKB p.Leu104Val Uncertain significance Single submitter
- DGKB p.Leu479Phe Uncertain significance Single submitter
- DGKB p.Lys562Asn Uncertain significance Single submitter
- DGKB p.Pro516Leu Uncertain significance Single submitter
- DGKB p.Ser743Ala Uncertain significance Single submitter
- DGKB p.Ser750Asn Uncertain significance Single submitter
- DGKB p.Thr193Ser Uncertain significance Single submitter
- DGKB p.Thr695Ala Uncertain significance Single submitter
- DGKB p.Val395Ala Uncertain significance Single submitter
- DGKB p.Asn316Ile Uncertain significance No assertion criteria
Predictors split 18
The independent predictors disagree with each other — read with care.
- DGKB p.Asp78Gly Uncertain significance Single submitter
- DGKB p.Gln776Lys Uncertain significance Single submitter
- DGKB p.Glu35Gln Uncertain significance Single submitter
- DGKB p.Gly645Ala Uncertain significance Single submitter
- DGKB p.His82Gln Uncertain significance Single submitter
- DGKB p.Ile550Met Uncertain significance Single submitter
- DGKB p.Leu461Val Uncertain significance Single submitter
- DGKB p.Lys677Glu Uncertain significance Single submitter
- DGKB p.Lys700Arg Uncertain significance Single submitter
- DGKB p.Met224Ile Uncertain significance Single submitter
- DGKB p.Met779Val Uncertain significance Single submitter
- DGKB p.Pro783Leu Uncertain significance Single submitter
- DGKB p.Pro96Gln Uncertain significance Single submitter
- DGKB p.Ser171Asn Uncertain significance Single submitter
- DGKB p.Thr121Ile Uncertain significance Single submitter
- DGKB p.Thr127Met Uncertain significance Single submitter
- DGKB p.Val246Leu Uncertain significance Single submitter
- DGKB p.Val511Ala Uncertain significance Single submitter
All DGKB variants
Likely benign 3
- c.169-5T>A Single submitter
- c.70+4A>G Single submitter
- p.Arg303Lys Single submitter
Uncertain significance 38
- p.Ala115Thr Single submitter ⚠
- p.Ala417Thr Single submitter ⚠
- p.Arg110Ile Single submitter ⚠
- p.Arg120Gln Single submitter ⚠
- p.Arg530Gly Single submitter ⚠
- p.Asn412Asp Single submitter ⚠
- p.Asp423Glu Single submitter ⚠
- p.Asp59Gly Single submitter ⚠
- p.Asp78Gly Single submitter ⚠
- p.Gln776Lys Single submitter ⚠
- p.Glu35Gln Single submitter ⚠
- p.Gly114Ser Single submitter ⚠
- p.Gly645Ala Single submitter ⚠
- p.His682Gln Single submitter ⚠
- p.His82Gln Single submitter ⚠
- p.Ile550Met Single submitter ⚠
- p.Leu104Val Single submitter ⚠
- p.Leu461Val Single submitter ⚠
- p.Leu479Phe Single submitter ⚠
- p.Lys562Asn Single submitter ⚠
- p.Lys677Glu Single submitter ⚠
- p.Lys700Arg Single submitter ⚠
- p.Met224Ile Single submitter ⚠
- p.Met779Val Single submitter ⚠
- p.Pro516Leu Single submitter ⚠
- p.Pro783Leu Single submitter ⚠
- p.Pro96Gln Single submitter ⚠
- p.Ser171Asn Single submitter ⚠
- p.Ser743Ala Single submitter ⚠
- p.Ser750Asn Single submitter ⚠
- p.Thr121Ile Single submitter ⚠
- p.Thr127Met Single submitter ⚠
- p.Thr193Ser Single submitter ⚠
- p.Thr695Ala Single submitter ⚠
- p.Val246Leu Single submitter ⚠
- p.Val395Ala Single submitter ⚠
- p.Val511Ala Single submitter ⚠
- p.Asn316Ile No assertion criteria ⚠