DGKQ — 217 ClinVar variants
All ClinVar germline DGKQ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 191 flagged for review →
6 Benign · 26 Likely benign · 185 Uncertain significance
Full DGKQ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 191
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 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DGKQ p.Ala228Val Uncertain significance Single submitter
- DGKQ p.Ala229Gly Uncertain significance Single submitter
- DGKQ p.Ala247Gly Uncertain significance Single submitter
- DGKQ p.Ala247Val Uncertain significance Single submitter
- DGKQ p.Ala24Ser Uncertain significance Single submitter
- DGKQ p.Ala411Ser Uncertain significance Single submitter
- DGKQ p.Ala438Thr Uncertain significance Single submitter
- DGKQ p.Ala656Thr Uncertain significance Single submitter
- DGKQ p.Ala690Gly Uncertain significance Single submitter
- DGKQ p.Ala709Thr Uncertain significance Single submitter
- DGKQ p.Ala752Val Uncertain significance Single submitter
- DGKQ p.Arg196Ser Uncertain significance Single submitter
- DGKQ p.Arg238Pro Uncertain significance Single submitter
- DGKQ p.Arg250Cys Uncertain significance Single submitter
- DGKQ p.Arg390Gln Uncertain significance Single submitter
- DGKQ p.Arg475Gln Uncertain significance Single submitter
- DGKQ p.Arg567Gln Uncertain significance Single submitter
- DGKQ p.Arg640Trp Uncertain significance Single submitter
- DGKQ p.Arg762Gln Uncertain significance Single submitter
- DGKQ p.Arg762Trp Uncertain significance Single submitter
- DGKQ p.Arg791Gln Uncertain significance Single submitter
- DGKQ p.Asn775Tyr Uncertain significance Single submitter
- DGKQ p.Asp178Val Uncertain significance Single submitter
- DGKQ p.Asp494Asn Uncertain significance Single submitter
- DGKQ p.Asp928Asn Uncertain significance Single submitter
- DGKQ p.Asp940Asn Uncertain significance Single submitter
- DGKQ p.Cys638Tyr Uncertain significance Single submitter
- DGKQ p.Cys89Arg Uncertain significance Single submitter
- DGKQ p.Gln298Lys Uncertain significance Single submitter
- DGKQ p.Gln355Pro Uncertain significance Single submitter
- DGKQ p.Glu198Gln Uncertain significance Single submitter
- DGKQ p.Glu288Gln Uncertain significance Single submitter
- DGKQ p.Glu381Gln Uncertain significance Single submitter
- DGKQ p.Glu442Gln Uncertain significance Single submitter
- DGKQ p.Glu491Asp Uncertain significance Single submitter
- DGKQ p.Glu491Gly Uncertain significance Single submitter
- DGKQ p.Glu553Lys Uncertain significance Single submitter
- DGKQ p.Glu706Lys Uncertain significance Single submitter
- DGKQ p.Glu723Lys Uncertain significance Single submitter
- DGKQ p.Glu764Lys Uncertain significance Single submitter
- DGKQ p.Glu838Lys Uncertain significance Single submitter
- DGKQ p.Gly237Arg Uncertain significance Single submitter
- DGKQ p.Gly254Ser Uncertain significance Single submitter
- DGKQ p.Gly273Arg Uncertain significance Single submitter
- DGKQ p.Gly343Ser Uncertain significance Single submitter
- DGKQ p.Gly378Arg Uncertain significance Single submitter
- DGKQ p.Gly380Ser Uncertain significance Single submitter
- DGKQ p.Gly505Ser Uncertain significance Single submitter
- DGKQ p.Gly509Asp Uncertain significance Single submitter
- DGKQ p.Gly863Ser Uncertain significance Single submitter
- DGKQ p.Gly891Arg Uncertain significance Single submitter
- DGKQ p.His579Tyr Uncertain significance Single submitter
- DGKQ p.His774Arg Uncertain significance Single submitter
- DGKQ p.His789Arg Uncertain significance Single submitter
- DGKQ p.Leu239Pro Uncertain significance Single submitter
- DGKQ p.Leu251Pro Uncertain significance Single submitter
- DGKQ p.Leu29Val Uncertain significance Single submitter
- DGKQ p.Leu333Pro Uncertain significance Single submitter
- DGKQ p.Leu589Arg Uncertain significance Single submitter
- DGKQ p.Lys301Asn Uncertain significance Single submitter
- DGKQ p.Met451Thr Uncertain significance Single submitter
- DGKQ p.Met557Thr Uncertain significance Single submitter
- DGKQ p.Met562Val Uncertain significance Single submitter
- DGKQ p.Pro113Ser Uncertain significance Single submitter
- DGKQ p.Pro145Leu Uncertain significance Single submitter
- DGKQ p.Pro158Ser Uncertain significance Single submitter
- DGKQ p.Pro18Arg Uncertain significance Single submitter
- DGKQ p.Pro270Arg Uncertain significance Single submitter
- DGKQ p.Pro497Leu Uncertain significance Single submitter
- DGKQ p.Pro615Ser Uncertain significance Single submitter
- DGKQ p.Pro736Ser Uncertain significance Single submitter
- DGKQ p.Ser193Leu Uncertain significance Single submitter
- DGKQ p.Ser193Pro Uncertain significance Single submitter
- DGKQ p.Ser371Leu Uncertain significance Single submitter
- DGKQ p.Ser379Pro Uncertain significance Single submitter
- DGKQ p.Ser440Thr Uncertain significance Single submitter
- DGKQ p.Ser492Asn Uncertain significance Single submitter
- DGKQ p.Ser516Thr Uncertain significance Single submitter
- DGKQ p.Ser586Thr Uncertain significance Single submitter
- DGKQ p.Ser904Leu Uncertain significance Single submitter
- DGKQ p.Thr181Ile Uncertain significance Single submitter
- DGKQ p.Thr383Ala Uncertain significance Single submitter
- DGKQ p.Thr570Ala Uncertain significance Single submitter
- DGKQ p.Thr570Ser Uncertain significance Single submitter
- DGKQ p.Trp387Arg Uncertain significance Single submitter
- DGKQ p.Tyr745Cys Uncertain significance Single submitter
- DGKQ p.Val213Met Uncertain significance Single submitter
- DGKQ p.Val220Ala Uncertain significance Single submitter
- DGKQ p.Val265Met Uncertain significance Single submitter
- DGKQ p.Val283Leu Uncertain significance Single submitter
- DGKQ p.Val410Met Uncertain significance Single submitter
- DGKQ p.Val529Met Uncertain significance Single submitter
- DGKQ p.Val530Ala Uncertain significance Single submitter
- DGKQ p.Val542Ala Uncertain significance Single submitter
- DGKQ p.Val593Met Uncertain significance Single submitter
- DGKQ p.Val618Gly Uncertain significance Single submitter
- DGKQ p.Val643Met Uncertain significance Single submitter
- DGKQ p.Val700Leu Uncertain significance Single submitter
- DGKQ p.Val780Leu Uncertain significance Single submitter
- DGKQ p.Val780Met Uncertain significance Single submitter
- DGKQ p.Val782Gly Uncertain significance Single submitter
Predictors split 90
The independent predictors disagree with each other — read with care.
- DGKQ p.Ala164Thr Uncertain significance Single submitter
- DGKQ p.Ala277Val Likely benign Single submitter
- DGKQ p.Ala332Thr Uncertain significance Single submitter
- DGKQ p.Ala4Val Uncertain significance Single submitter
- DGKQ p.Ala522Thr Uncertain significance Single submitter
- DGKQ p.Ala724Val Uncertain significance Single submitter
- DGKQ p.Ala931Val Likely benign Single submitter
- DGKQ p.Arg169Cys Uncertain significance Single submitter
- DGKQ p.Arg169His Uncertain significance Single submitter
- DGKQ p.Arg169Leu Uncertain significance Single submitter
- DGKQ p.Arg196Cys Uncertain significance Single submitter
- DGKQ p.Arg311Ser Uncertain significance Single submitter
- DGKQ p.Arg321Cys Uncertain significance Single submitter
- DGKQ p.Arg424Cys Uncertain significance Single submitter
- DGKQ p.Arg565Trp Uncertain significance Single submitter
- DGKQ p.Arg567Trp Uncertain significance Single submitter
- DGKQ p.Arg661Gln Uncertain significance Single submitter
- DGKQ p.Arg687His Uncertain significance Single submitter
- DGKQ p.Arg791Trp Uncertain significance Single submitter
- DGKQ p.Arg798Trp Uncertain significance Single submitter
- DGKQ p.Arg841Cys Uncertain significance Single submitter
- DGKQ p.Arg841His Uncertain significance Single submitter
- DGKQ p.Asp159Gly Uncertain significance Single submitter
- DGKQ p.Asp463His Uncertain significance Single submitter
- DGKQ p.Asp463Val Uncertain significance Single submitter
- DGKQ p.Asp620Asn Uncertain significance Single submitter
- DGKQ p.Asp708Asn Uncertain significance Single submitter
- DGKQ p.Gln437Pro Uncertain significance Single submitter
- DGKQ p.Glu150Gln Uncertain significance Single submitter
- DGKQ p.Glu150Lys Uncertain significance Single submitter
- DGKQ p.Glu233Lys Uncertain significance Single submitter
- DGKQ p.Glu330Lys Uncertain significance Single submitter
- DGKQ p.Glu695Lys Uncertain significance Single submitter
- DGKQ p.Glu802Gln Uncertain significance Single submitter
- DGKQ p.Gly189Ala Uncertain significance Single submitter
- DGKQ p.Gly276Val Uncertain significance Single submitter
- DGKQ p.Gly286Cys Uncertain significance Single submitter
- DGKQ p.Gly374Cys Uncertain significance Single submitter
- DGKQ p.Gly380Cys Uncertain significance Single submitter
- DGKQ p.Gly599Asp Uncertain significance Single submitter
- DGKQ p.His185Gln Uncertain significance Single submitter
- DGKQ p.Ile797Met Uncertain significance Single submitter
- DGKQ p.Ile869Phe Uncertain significance Single submitter
- DGKQ p.Leu210Pro Uncertain significance Single submitter
- DGKQ p.Leu468Pro Uncertain significance Single submitter
- DGKQ p.Leu569Pro Uncertain significance Single submitter
- DGKQ p.Leu613Val Uncertain significance Single submitter
- DGKQ p.Leu630Pro Uncertain significance Single submitter
- DGKQ p.Leu701Val Uncertain significance Single submitter
- DGKQ p.Leu784Met Uncertain significance Single submitter
- DGKQ p.Met858Val Uncertain significance Single submitter
- DGKQ p.Phe877Leu Uncertain significance Single submitter
- DGKQ p.Pro107Leu Uncertain significance Single submitter
- DGKQ p.Pro253Ser Likely benign Single submitter
- DGKQ p.Pro270Leu Uncertain significance Single submitter
- DGKQ p.Pro352Thr Uncertain significance Single submitter
- DGKQ p.Pro393Gln Uncertain significance Single submitter
- DGKQ p.Pro393Leu Uncertain significance Single submitter
- DGKQ p.Pro39Leu Uncertain significance Single submitter
- DGKQ p.Pro432Leu Uncertain significance Single submitter
- DGKQ p.Pro441Leu Uncertain significance Single submitter
- DGKQ p.Pro466Ser Uncertain significance Single submitter
- DGKQ p.Pro583Leu Uncertain significance Single submitter
- DGKQ p.Pro667Leu Uncertain significance Single submitter
- DGKQ p.Pro820His Uncertain significance Single submitter
- DGKQ p.Ser26Ile Uncertain significance Single submitter
- DGKQ p.Ser295Tyr Uncertain significance Single submitter
- DGKQ p.Ser320Cys Uncertain significance Single submitter
- DGKQ p.Ser367Asn Uncertain significance Single submitter
- DGKQ p.Thr318Lys Uncertain significance Single submitter
- DGKQ p.Thr318Met Uncertain significance Single submitter
- DGKQ p.Thr459Met Uncertain significance Single submitter
-
DGKQ p.Thr67Met
Uncertain significance
Single submitter
Usher syndrome
- DGKQ p.Thr731Met Uncertain significance Single submitter
- DGKQ p.Thr853Met Uncertain significance Single submitter
- DGKQ p.Val104Met Uncertain significance Single submitter
- DGKQ p.Val413Met Uncertain significance Single submitter
- DGKQ p.Val415Leu Uncertain significance Single submitter
- DGKQ p.Val426Met Uncertain significance Single submitter
- DGKQ p.Val449Met Uncertain significance Single submitter
- DGKQ p.Val489Met Likely benign Single submitter
- DGKQ p.Val50Phe Uncertain significance Single submitter
- DGKQ p.Val542Ile Uncertain significance Single submitter
- DGKQ p.Val546Ile Uncertain significance Single submitter
- DGKQ p.Val671Met Uncertain significance Single submitter
- DGKQ p.Val778Met Uncertain significance Single submitter
- DGKQ p.Val801Met Uncertain significance Single submitter
- DGKQ p.Val855Ile Uncertain significance Single submitter
- DGKQ p.Val856Met Benign Single submitter
-
DGKQ p.Arg240His
Likely benign
No assertion criteria
DGKQ-related disorder
All DGKQ variants
Benign 6
- c.1367-16G>C Multiple submitters
- c.2316-10C>T Multiple submitters
- p.Asp730= Multiple submitters
- p.Pro55= Multiple submitters
- p.Val856Met Single submitter ⚠
- p.Ala211= No assertion criteria DGKQ-related disorder
Likely benign 26
- p.Ala24Thr Single submitter
- p.Ala277Val Single submitter ⚠
- p.Ala709= Single submitter
- p.Ala931Val Single submitter ⚠
- p.Arg803Gln Single submitter
- p.Asp545= Single submitter
- p.Gly324Arg Single submitter
- p.Gly324Ser Single submitter
- p.His336Tyr Single submitter
- p.Met557Val Single submitter
- p.Pro253Ser Single submitter ⚠
- p.Pro508= Single submitter
- p.Ser824= Single submitter
- p.Val489Met Single submitter ⚠
- c.1619-4G>A No assertion criteria DGKQ-related disorder
- c.1734+10C>T No assertion criteria DGKQ-related disorder
- c.1886+10G>T No assertion criteria DGKQ-related disorder
- c.2574+8G>C No assertion criteria DGKQ-related disorder
- c.2575-7G>A No assertion criteria DGKQ-related disorder
- c.538-10C>T No assertion criteria DGKQ-related disorder
- p.Arg240His No assertion criteria DGKQ-related disorder ⚠
- p.Cys149= No assertion criteria DGKQ-related disorder
- p.Pro339Thr No assertion criteria DGKQ-related disorder
- p.Pro628= No assertion criteria DGKQ-related disorder
- p.Thr203= No assertion criteria DGKQ-related disorder
- p.Val879= No assertion criteria DGKQ-related disorder
Uncertain significance 185
- p.Ala164Thr Single submitter ⚠
- p.Ala228Val Single submitter ⚠
- p.Ala229Gly Single submitter ⚠
- p.Ala247Gly Single submitter ⚠
- p.Ala247Val Single submitter ⚠
- p.Ala24Ser Single submitter ⚠
- p.Ala332Thr Single submitter ⚠
- p.Ala411Ser Single submitter ⚠
- p.Ala438Thr Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Ala522Thr Single submitter ⚠
- p.Ala656Thr Single submitter ⚠
- p.Ala690Gly Single submitter ⚠
- p.Ala709Thr Single submitter ⚠
- p.Ala724Val Single submitter ⚠
- p.Ala752Val Single submitter ⚠
- p.Arg169Cys Single submitter ⚠
- p.Arg169His Single submitter ⚠
- p.Arg169Leu Single submitter ⚠
- p.Arg196Cys Single submitter ⚠
- p.Arg196Ser Single submitter ⚠
- p.Arg238Pro Single submitter ⚠
- p.Arg250Cys Single submitter ⚠
- p.Arg311Ser Single submitter ⚠
- p.Arg321Cys Single submitter ⚠
- p.Arg390Gln Single submitter ⚠
- p.Arg424Cys Single submitter ⚠
- p.Arg475Gln Single submitter ⚠
- p.Arg565Trp Single submitter ⚠
- p.Arg567Gln Single submitter ⚠
- p.Arg567Trp Single submitter ⚠
- p.Arg640Trp Single submitter ⚠
- p.Arg661Gln Single submitter ⚠
- p.Arg687His Single submitter ⚠
- p.Arg762Gln Single submitter ⚠
- p.Arg762Trp Single submitter ⚠
- p.Arg791Gln Single submitter ⚠
- p.Arg791Trp Single submitter ⚠
- p.Arg798Trp Single submitter ⚠
- p.Arg841Cys Single submitter ⚠
- p.Arg841His Single submitter ⚠
- p.Asn775Tyr Single submitter ⚠
- p.Asp159Gly Single submitter ⚠
- p.Asp178Val Single submitter ⚠
- p.Asp463His Single submitter ⚠
- p.Asp463Val Single submitter ⚠
- p.Asp494Asn Single submitter ⚠
- p.Asp620Asn Single submitter ⚠
- p.Asp708Asn Single submitter ⚠
- p.Asp928Asn Single submitter ⚠
- p.Asp940Asn Single submitter ⚠
- p.Cys638Tyr Single submitter ⚠
- p.Cys89Arg Single submitter ⚠
- p.Gln298Lys Single submitter ⚠
- p.Gln355Pro Single submitter ⚠
- p.Gln437Pro Single submitter ⚠
- p.Glu150Gln Single submitter ⚠
- p.Glu150Lys Single submitter ⚠
- p.Glu198Gln Single submitter ⚠
- p.Glu233Lys Single submitter ⚠
- p.Glu288Gln Single submitter ⚠
- p.Glu330Lys Single submitter ⚠
- p.Glu381Gln Single submitter ⚠
- p.Glu442Gln Single submitter ⚠
- p.Glu491Asp Single submitter ⚠
- p.Glu491Gly Single submitter ⚠
- p.Glu553Lys Single submitter ⚠
- p.Glu695Lys Single submitter ⚠
- p.Glu706Lys Single submitter ⚠
- p.Glu723Lys Single submitter ⚠
- p.Glu764Lys Single submitter ⚠
- p.Glu802Gln Single submitter ⚠
- p.Glu838Lys Single submitter ⚠
- p.Gly189Ala Single submitter ⚠
- p.Gly237Arg Single submitter ⚠
- p.Gly254Ser Single submitter ⚠
- p.Gly273Arg Single submitter ⚠
- p.Gly276Val Single submitter ⚠
- p.Gly286Cys Single submitter ⚠
- p.Gly343Ser Single submitter ⚠
- p.Gly374Cys Single submitter ⚠
- p.Gly378Arg Single submitter ⚠
- p.Gly380Cys Single submitter ⚠
- p.Gly380Ser Single submitter ⚠
- p.Gly505Ser Single submitter ⚠
- p.Gly509Asp Single submitter ⚠
- p.Gly599Asp Single submitter ⚠
- p.Gly863Ser Single submitter ⚠
- p.Gly891Arg Single submitter ⚠
- p.His185Gln Single submitter ⚠
- p.His579Tyr Single submitter ⚠
- p.His774Arg Single submitter ⚠
- p.His789Arg Single submitter ⚠
- p.Ile797Met Single submitter ⚠
- p.Ile869Phe Single submitter ⚠
- p.Leu210Pro Single submitter ⚠
- p.Leu239Pro Single submitter ⚠
- p.Leu251Pro Single submitter ⚠
- p.Leu29Val Single submitter ⚠
- p.Leu333Pro Single submitter ⚠
- p.Leu468Pro Single submitter ⚠
- p.Leu569Pro Single submitter ⚠
- p.Leu589Arg Single submitter ⚠
- p.Leu613Val Single submitter ⚠
- p.Leu630Pro Single submitter ⚠
- p.Leu701Val Single submitter ⚠
- p.Leu784Met Single submitter ⚠
- p.Lys301Asn Single submitter ⚠
- p.Met451Thr Single submitter ⚠
- p.Met557Thr Single submitter ⚠
- p.Met562Val Single submitter ⚠
- p.Met858Val Single submitter ⚠
- p.Phe877Leu Single submitter ⚠
- p.Pro107Leu Single submitter ⚠
- p.Pro113Ser Single submitter ⚠
- p.Pro145Leu Single submitter ⚠
- p.Pro158Ser Single submitter ⚠
- p.Pro18Arg Single submitter ⚠
- p.Pro270Arg Single submitter ⚠
- p.Pro270Leu Single submitter ⚠
- p.Pro352Thr Single submitter ⚠
- p.Pro393Gln Single submitter ⚠
- p.Pro393Leu Single submitter ⚠
- p.Pro39Leu Single submitter ⚠
- p.Pro432Leu Single submitter ⚠
- p.Pro441Leu Single submitter ⚠
- p.Pro466Ser Single submitter ⚠
- p.Pro497Leu Single submitter ⚠
- p.Pro583Leu Single submitter ⚠
- p.Pro615Ser Single submitter ⚠
- p.Pro667Leu Single submitter ⚠
- p.Pro736Ser Single submitter ⚠
- p.Pro820His Single submitter ⚠
- p.Ser193Leu Single submitter ⚠
- p.Ser193Pro Single submitter ⚠
- p.Ser26Ile Single submitter ⚠
- p.Ser295Tyr Single submitter ⚠
- p.Ser320Cys Single submitter ⚠
- p.Ser367Asn Single submitter ⚠
- p.Ser371Leu Single submitter ⚠
- p.Ser379Pro Single submitter ⚠
- p.Ser440Thr Single submitter ⚠
- p.Ser492Asn Single submitter ⚠
- p.Ser516Thr Single submitter ⚠
- p.Ser586Thr Single submitter ⚠
- p.Ser904Leu Single submitter ⚠
- p.Thr181Ile Single submitter ⚠
- p.Thr318Lys Single submitter ⚠
- p.Thr318Met Single submitter ⚠
- p.Thr383Ala Single submitter ⚠
- p.Thr459Met Single submitter ⚠
- p.Thr570Ala Single submitter ⚠
- p.Thr570Ser Single submitter ⚠
- p.Thr67Met Single submitter Usher syndrome ⚠
- p.Thr731Met Single submitter ⚠
- p.Thr853Met Single submitter ⚠
- p.Trp387Arg Single submitter ⚠
- p.Tyr745Cys Single submitter ⚠
- p.Val104Met Single submitter ⚠
- p.Val213Met Single submitter ⚠
- p.Val220Ala Single submitter ⚠
- p.Val265Met Single submitter ⚠
- p.Val283Leu Single submitter ⚠
- p.Val410Met Single submitter ⚠
- p.Val413Met Single submitter ⚠
- p.Val415Leu Single submitter ⚠
- p.Val426Met Single submitter ⚠
- p.Val449Met Single submitter ⚠
- p.Val50Phe Single submitter ⚠
- p.Val529Met Single submitter ⚠
- p.Val530Ala Single submitter ⚠
- p.Val542Ala Single submitter ⚠
- p.Val542Ile Single submitter ⚠
- p.Val546Ile Single submitter ⚠
- p.Val593Met Single submitter ⚠
- p.Val618Gly Single submitter ⚠
- p.Val643Met Single submitter ⚠
- p.Val671Met Single submitter ⚠
- p.Val700Leu Single submitter ⚠
- p.Val778Met Single submitter ⚠
- p.Val780Leu Single submitter ⚠
- p.Val780Met Single submitter ⚠
- p.Val782Gly Single submitter ⚠
- p.Val801Met Single submitter ⚠
- p.Val855Ile Single submitter ⚠