DGKD — 183 ClinVar variants
All ClinVar germline DGKD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 150 flagged for review →
2 Conflicting · 12 Benign · 1 Benign/Likely benign · 21 Likely benign · 147 Uncertain significance
Full DGKD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 150
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 84
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DGKD p.Ala1047Gly Uncertain significance Single submitter
- DGKD p.Ala1109Val Uncertain significance Single submitter
- DGKD p.Ala1134Val Uncertain significance Single submitter
- DGKD p.Ala1140Gly Uncertain significance Single submitter
- DGKD p.Ala247Thr Uncertain significance Single submitter
- DGKD p.Ala459Ser Uncertain significance Single submitter
- DGKD p.Ala574Thr Uncertain significance Single submitter
- DGKD p.Ala714Val Uncertain significance Single submitter
- DGKD p.Ala745Ser Uncertain significance Single submitter
- DGKD p.Arg1022His Uncertain significance Single submitter
- DGKD p.Arg208Cys Uncertain significance Single submitter
- DGKD p.Arg266Cys Uncertain significance Single submitter
- DGKD p.Arg604Gln Uncertain significance Single submitter
- DGKD p.Arg604Trp Uncertain significance Single submitter
- DGKD p.Arg606Pro Uncertain significance Single submitter
- DGKD p.Arg678Gly Uncertain significance Single submitter
- DGKD p.Arg678His Uncertain significance Single submitter
- DGKD p.Arg709Gln Uncertain significance Single submitter
- DGKD p.Arg725Gln Uncertain significance Single submitter
- DGKD p.Arg740His Uncertain significance Single submitter
- DGKD p.Arg943Gly Uncertain significance Single submitter
- DGKD p.Arg996Gln Uncertain significance Single submitter
- DGKD p.Asn178Ser Uncertain significance Single submitter
- DGKD p.Asn327Ser Uncertain significance Single submitter
- DGKD p.Asn65Ser Uncertain significance Single submitter
- DGKD p.Asn716Ser Uncertain significance Single submitter
- DGKD p.Asp1021Glu Uncertain significance Single submitter
- DGKD p.Asp589His Uncertain significance Single submitter
- DGKD p.Asp710His Uncertain significance Single submitter
- DGKD p.Cys958Tyr Uncertain significance Single submitter
- DGKD p.Gln476His Uncertain significance Single submitter
- DGKD p.Gln63His Uncertain significance Single submitter
- DGKD p.Glu1213Gln Uncertain significance Single submitter
- DGKD p.Glu640Asp Uncertain significance Single submitter
- DGKD p.Glu652Val Uncertain significance Single submitter
- DGKD p.Glu667Lys Uncertain significance Single submitter
- DGKD p.Glu824Ala Uncertain significance Single submitter
- DGKD p.Glu919Gly Uncertain significance Single submitter
- DGKD p.Gly308Ala Uncertain significance Single submitter
- DGKD p.Gly670Arg Uncertain significance Single submitter
- DGKD p.Gly734Ser Uncertain significance Single submitter
- DGKD p.Gly827Ala Uncertain significance Single submitter
- DGKD p.Gly827Arg Uncertain significance Single submitter
- DGKD p.Gly989Glu Uncertain significance Single submitter
- DGKD p.His149Pro Uncertain significance Single submitter
- DGKD p.Ile118Thr Uncertain significance Single submitter
- DGKD p.Ile55Thr Uncertain significance Single submitter
- DGKD p.Ile889Thr Uncertain significance Single submitter
- DGKD p.Ile91Val Uncertain significance Single submitter
- DGKD p.Leu1184Phe Uncertain significance Single submitter
- DGKD p.Leu550Ile Uncertain significance Single submitter
- DGKD p.Lys132Arg Uncertain significance Single submitter
- DGKD p.Lys337Arg Uncertain significance Single submitter
- DGKD p.Lys524Gln Uncertain significance Single submitter
- DGKD p.Lys537Glu Uncertain significance Single submitter
- DGKD p.Lys718Glu Uncertain significance Single submitter
- DGKD p.Met1020Val Uncertain significance Single submitter
- DGKD p.Met163Ile Uncertain significance Single submitter
- DGKD p.Phe342Leu Uncertain significance Single submitter
- DGKD p.Phe479Tyr Uncertain significance Single submitter
- DGKD p.Pro10Ala Uncertain significance Single submitter
- DGKD p.Pro1210Leu Uncertain significance Single submitter
- DGKD p.Pro12Ser Uncertain significance Single submitter
- DGKD p.Pro564Ser Uncertain significance Single submitter
- DGKD p.Pro597Leu Uncertain significance Single submitter
- DGKD p.Pro964Thr Uncertain significance Single submitter
- DGKD p.Pro9Ala Uncertain significance Single submitter
- DGKD p.Ser189Leu Uncertain significance Single submitter
- DGKD p.Ser503Leu Uncertain significance Single submitter
- DGKD p.Ser90Leu Uncertain significance Single submitter
- DGKD p.Thr510Met Uncertain significance Single submitter
- DGKD p.Thr552Ser Uncertain significance Single submitter
- DGKD p.Thr569Ala Uncertain significance Single submitter
- DGKD p.Tyr522His Uncertain significance Single submitter
- DGKD p.Tyr522Ser Uncertain significance Single submitter
- DGKD p.Tyr721Cys Uncertain significance Single submitter
- DGKD p.Val1104Met Uncertain significance Single submitter
- DGKD p.Val1120Met Uncertain significance Single submitter
- DGKD p.Val117Ile Uncertain significance Single submitter
- DGKD p.Val1189Met Uncertain significance Single submitter
- DGKD p.Val464Ile Uncertain significance Single submitter
- DGKD p.Val541Ile Uncertain significance Single submitter
- DGKD p.Val645Ile Uncertain significance Single submitter
- DGKD p.Val990Ile Uncertain significance Single submitter
Predictors split 66
The independent predictors disagree with each other — read with care.
- DGKD p.Ala183Val Uncertain significance Single submitter
- DGKD p.Ala247Ser Uncertain significance Single submitter
- DGKD p.Ala272Val Uncertain significance Single submitter
- DGKD p.Ala897Thr Uncertain significance Single submitter
- DGKD p.Arg1111His Uncertain significance Single submitter
- DGKD p.Arg1113Cys Uncertain significance Single submitter
- DGKD p.Arg1172Trp Uncertain significance Single submitter
-
DGKD p.Arg181Cys
Uncertain significance
Single submitter
dilated cardiomyopathy
- DGKD p.Arg181His Uncertain significance Single submitter
- DGKD p.Arg725Trp Uncertain significance Single submitter
- DGKD p.Arg740Leu Uncertain significance Single submitter
- DGKD p.Asn394Ser Uncertain significance Single submitter
- DGKD p.Asp1004Asn Uncertain significance Single submitter
- DGKD p.Asp632Asn Uncertain significance Single submitter
- DGKD p.Gln154His Uncertain significance Single submitter
- DGKD p.Gln458Lys Uncertain significance Single submitter
- DGKD p.Glu1070Lys Uncertain significance Single submitter
- DGKD p.Glu751Ala Uncertain significance Single submitter
- DGKD p.Glu977Ala Uncertain significance Single submitter
- DGKD p.Gly1201Ser Uncertain significance Single submitter
- DGKD p.Gly855Ser Uncertain significance Single submitter
- DGKD p.His1156Asp Uncertain significance Single submitter
- DGKD p.Leu1092His Uncertain significance Single submitter
- DGKD p.Leu1092Phe Uncertain significance Single submitter
- DGKD p.Leu804Val Uncertain significance Single submitter
- DGKD p.Lys1185Arg Uncertain significance Single submitter
- DGKD p.Lys223Arg Uncertain significance Single submitter
- DGKD p.Lys248Arg Uncertain significance Single submitter
- DGKD p.Lys343Arg Uncertain significance Single submitter
- DGKD p.Lys761Arg Uncertain significance Single submitter
- DGKD p.Lys870Arg Uncertain significance Single submitter
- DGKD p.Met1195Thr Uncertain significance Single submitter
- DGKD p.Met798Ile Uncertain significance Single submitter
- DGKD p.Pro1027His Uncertain significance Single submitter
- DGKD p.Pro1090Leu Uncertain significance Single submitter
- DGKD p.Pro12His Uncertain significance Single submitter
- DGKD p.Pro12Thr Conflicting Single submitter
- DGKD p.Pro13Gln Uncertain significance Single submitter
- DGKD p.Pro15Arg Uncertain significance Single submitter
- DGKD p.Pro17Ala Uncertain significance Single submitter
- DGKD p.Pro17Thr Uncertain significance Single submitter
- DGKD p.Pro33Leu Uncertain significance Single submitter
- DGKD p.Pro33Ser Uncertain significance Single submitter
- DGKD p.Pro8Leu Uncertain significance Single submitter
- DGKD p.Pro9Leu Uncertain significance Single submitter
- DGKD p.Ser277Leu Uncertain significance Single submitter
- DGKD p.Ser317Pro Uncertain significance Single submitter
- DGKD p.Ser460Phe Uncertain significance Single submitter
- DGKD p.Ser529Leu Uncertain significance Single submitter
- DGKD p.Ser681Trp Uncertain significance Single submitter
- DGKD p.Ser951Cys Uncertain significance Single submitter
- DGKD p.Thr210Ala Uncertain significance Single submitter
- DGKD p.Thr217Ala Uncertain significance Single submitter
- DGKD p.Thr463Ala Uncertain significance Single submitter
- DGKD p.Thr759Met Uncertain significance Single submitter
- DGKD p.Thr87Met Uncertain significance Single submitter
- DGKD p.Thr901Met Likely benign Single submitter
- DGKD p.Tyr451His Uncertain significance Single submitter
- DGKD p.Val251Met Uncertain significance Single submitter
- DGKD p.Val326Ile Uncertain significance Single submitter
- DGKD p.Val383Ile Uncertain significance Single submitter
- DGKD p.Val515Met Uncertain significance Single submitter
- DGKD p.Val877Leu Uncertain significance Single submitter
- DGKD p.Asp158Asn Uncertain significance No assertion criteria
-
DGKD p.Glu971Lys
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
-
DGKD p.Gly1099Cys
Likely benign
No assertion criteria
DGKD-related disorder
All DGKD variants
Conflicting classifications of pathogenicity 2
- p.Glu975= Single submitter
- p.Pro12Thr Single submitter ⚠
Benign 12
- c.2375+10A>G Multiple submitters
- p.Leu406= Multiple submitters
- p.Thr1052= Multiple submitters
- c.1614+10C>T Single submitter
- c.2039-4dup Single submitter
- c.3425-6C>T Single submitter
- p.Glu653del Single submitter
- p.Leu387= Single submitter
- p.Leu712= Single submitter
- p.Asn1034Ser No assertion criteria DGKD-related disorder
- p.Leu891= No assertion criteria DGKD-related disorder
- p.Ser498= No assertion criteria DGKD-related disorder
Benign/Likely benign 1
- p.Pro568= Multiple submitters
Likely benign 21
- p.Ala863Thr Single submitter
- p.Ala920= Single submitter
- p.Asp917= Single submitter
- p.Gly1099= Single submitter
- p.Leu416= Single submitter
- p.Pro17= Single submitter
- p.Pro8= Single submitter
- p.Ser1103Asn Single submitter
- p.Ser447= Single submitter
- p.Ser560= Single submitter
- p.Ser666= Single submitter
- p.Thr525= Single submitter
- p.Thr901Met Single submitter ⚠
- p.Val196= Single submitter
- p.Val914= Single submitter
- p.Ala847= No assertion criteria DGKD-related disorder
- p.Glu971Lys No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
- p.Gly1099Cys No assertion criteria DGKD-related disorder ⚠
- p.Pro597= No assertion criteria DGKD-related disorder
- p.Ser529= No assertion criteria DGKD-related disorder
- p.Thr759= No assertion criteria DGKD-related disorder
Uncertain significance 147
- p.Ala1047Gly Single submitter ⚠
- p.Ala1109Val Single submitter ⚠
- p.Ala1134Val Single submitter ⚠
- p.Ala1140Gly Single submitter ⚠
- p.Ala183Val Single submitter ⚠
- p.Ala247Ser Single submitter ⚠
- p.Ala247Thr Single submitter ⚠
- p.Ala272Val Single submitter ⚠
- p.Ala459Ser Single submitter ⚠
- p.Ala574Thr Single submitter ⚠
- p.Ala714Val Single submitter ⚠
- p.Ala745Ser Single submitter ⚠
- p.Ala897Thr Single submitter ⚠
- p.Arg1022His Single submitter ⚠
- p.Arg1111His Single submitter ⚠
- p.Arg1113Cys Single submitter ⚠
- p.Arg1172Trp Single submitter ⚠
- p.Arg181Cys Single submitter dilated cardiomyopathy ⚠
- p.Arg181His Single submitter ⚠
- p.Arg208Cys Single submitter ⚠
- p.Arg266Cys Single submitter ⚠
- p.Arg604Gln Single submitter ⚠
- p.Arg604Trp Single submitter ⚠
- p.Arg606Pro Single submitter ⚠
- p.Arg678Gly Single submitter ⚠
- p.Arg678His Single submitter ⚠
- p.Arg709Gln Single submitter ⚠
- p.Arg725Gln Single submitter ⚠
- p.Arg725Trp Single submitter ⚠
- p.Arg740His Single submitter ⚠
- p.Arg740Leu Single submitter ⚠
- p.Arg943Gly Single submitter ⚠
- p.Arg996Gln Single submitter ⚠
- p.Asn178Ser Single submitter ⚠
- p.Asn327Ser Single submitter ⚠
- p.Asn394Ser Single submitter ⚠
- p.Asn65Ser Single submitter ⚠
- p.Asn716Ser Single submitter ⚠
- p.Asp1004Asn Single submitter ⚠
- p.Asp1021Glu Single submitter ⚠
- p.Asp589His Single submitter ⚠
- p.Asp632Asn Single submitter ⚠
- p.Asp710His Single submitter ⚠
- p.Cys958Tyr Single submitter ⚠
- p.Gln154His Single submitter ⚠
- p.Gln458Lys Single submitter ⚠
- p.Gln476His Single submitter ⚠
- p.Gln63His Single submitter ⚠
- p.Gln915Ter Single submitter
- p.Glu1070Lys Single submitter ⚠
- p.Glu1213Gln Single submitter ⚠
- p.Glu640Asp Single submitter ⚠
- p.Glu652Val Single submitter ⚠
- p.Glu667Lys Single submitter ⚠
- p.Glu751Ala Single submitter ⚠
- p.Glu824Ala Single submitter ⚠
- p.Glu919Gly Single submitter ⚠
- p.Glu977Ala Single submitter ⚠
- p.Gly1201Ser Single submitter ⚠
- p.Gly308Ala Single submitter ⚠
- p.Gly670Arg Single submitter ⚠
- p.Gly734Ser Single submitter ⚠
- p.Gly827Ala Single submitter ⚠
- p.Gly827Arg Single submitter ⚠
- p.Gly855Ser Single submitter ⚠
- p.Gly989Glu Single submitter ⚠
- p.His1156Asp Single submitter ⚠
- p.His149Pro Single submitter ⚠
- p.Ile118Thr Single submitter ⚠
- p.Ile55Thr Single submitter ⚠
- p.Ile889Thr Single submitter ⚠
- p.Ile91Val Single submitter ⚠
- p.Leu1092His Single submitter ⚠
- p.Leu1092Phe Single submitter ⚠
- p.Leu1184Phe Single submitter ⚠
- p.Leu550Ile Single submitter ⚠
- p.Leu804Val Single submitter ⚠
- p.Lys1185Arg Single submitter ⚠
- p.Lys132Arg Single submitter ⚠
- p.Lys223Arg Single submitter ⚠
- p.Lys248Arg Single submitter ⚠
- p.Lys337Arg Single submitter ⚠
- p.Lys343Arg Single submitter ⚠
- p.Lys524Gln Single submitter ⚠
- p.Lys537Glu Single submitter ⚠
- p.Lys718Glu Single submitter ⚠
- p.Lys761Arg Single submitter ⚠
- p.Lys870Arg Single submitter ⚠
- p.Met1020Val Single submitter ⚠
- p.Met1195Thr Single submitter ⚠
- p.Met163Ile Single submitter ⚠
- p.Met798Ile Single submitter ⚠
- p.Phe342Leu Single submitter ⚠
- p.Phe479Tyr Single submitter ⚠
- p.Pro1027His Single submitter ⚠
- p.Pro1090Leu Single submitter ⚠
- p.Pro10Ala Single submitter ⚠
- p.Pro1210Leu Single submitter ⚠
- p.Pro12His Single submitter ⚠
- p.Pro12Ser Single submitter ⚠
- p.Pro13Gln Single submitter ⚠
- p.Pro15Arg Single submitter ⚠
- p.Pro17Ala Single submitter ⚠
- p.Pro17Thr Single submitter ⚠
- p.Pro33Leu Single submitter ⚠
- p.Pro33Ser Single submitter ⚠
- p.Pro564Ser Single submitter ⚠
- p.Pro597Leu Single submitter ⚠
- p.Pro8Leu Single submitter ⚠
- p.Pro964Thr Single submitter ⚠
- p.Pro9Ala Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser189Leu Single submitter ⚠
- p.Ser277Leu Single submitter ⚠
- p.Ser317Pro Single submitter ⚠
- p.Ser460Phe Single submitter ⚠
- p.Ser503Leu Single submitter ⚠
- p.Ser529Leu Single submitter ⚠
- p.Ser681Trp Single submitter ⚠
- p.Ser90Leu Single submitter ⚠
- p.Ser951Cys Single submitter ⚠
- p.Thr210Ala Single submitter ⚠
- p.Thr217Ala Single submitter ⚠
- p.Thr463Ala Single submitter ⚠
- p.Thr510Met Single submitter ⚠
- p.Thr552Ser Single submitter ⚠
- p.Thr569Ala Single submitter ⚠
- p.Thr759Met Single submitter ⚠
- p.Thr87Met Single submitter ⚠
- p.Tyr451His Single submitter ⚠
- p.Tyr522His Single submitter ⚠
- p.Tyr522Ser Single submitter ⚠
- p.Tyr721Cys Single submitter ⚠
- p.Val1104Met Single submitter ⚠
- p.Val1120Met Single submitter ⚠
- p.Val117Ile Single submitter ⚠
- p.Val1189Met Single submitter ⚠
- p.Val251Met Single submitter ⚠
- p.Val326Ile Single submitter ⚠
- p.Val383Ile Single submitter ⚠
- p.Val464Ile Single submitter ⚠
- p.Val515Met Single submitter ⚠
- p.Val541Ile Single submitter ⚠
- p.Val645Ile Single submitter ⚠
- p.Val877Leu Single submitter ⚠
- p.Val990Ile Single submitter ⚠
- p.Asp158Asn No assertion criteria ⚠