DGKH — 113 ClinVar variants
All ClinVar germline DGKH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
1 Pathogenic · 13 Likely benign · 99 Uncertain significance
Full DGKH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DGKH p.Ala118Thr Uncertain significance Single submitter
- DGKH p.Ala19Ser Uncertain significance Single submitter
- DGKH p.Ala506Thr Uncertain significance Single submitter
- DGKH p.Ala673Val Uncertain significance Single submitter
- DGKH p.Ala981Thr Uncertain significance Single submitter
- DGKH p.Ala985Thr Uncertain significance Single submitter
- DGKH p.Arg1174Ser Uncertain significance Single submitter
- DGKH p.Arg351His Uncertain significance Single submitter
- DGKH p.Arg352His Uncertain significance Single submitter
- DGKH p.Arg384Trp Uncertain significance Single submitter
- DGKH p.Arg684Gln Uncertain significance Single submitter
- DGKH p.Arg85Leu Uncertain significance Single submitter
- DGKH p.Arg85Pro Uncertain significance Single submitter
- DGKH p.Asn1164Ser Uncertain significance Single submitter
- DGKH p.Asn125Lys Uncertain significance Single submitter
- DGKH p.Asn858Tyr Uncertain significance Single submitter
- DGKH p.Asp1192Val Uncertain significance Single submitter
- DGKH p.Asp670Val Uncertain significance Single submitter
- DGKH p.Asp671Gly Uncertain significance Single submitter
- DGKH p.Cys1007Arg Uncertain significance Single submitter
- DGKH p.Gln166His Uncertain significance Single submitter
- DGKH p.Gln45Glu Uncertain significance Single submitter
- DGKH p.Glu1109Lys Uncertain significance Single submitter
- DGKH p.Glu1154Asp Uncertain significance Single submitter
- DGKH p.Glu194Asp Uncertain significance Single submitter
- DGKH p.Glu46Asp Uncertain significance Single submitter
- DGKH p.Glu555Lys Uncertain significance Single submitter
- DGKH p.Glu581Ala Uncertain significance Single submitter
- DGKH p.Glu663Lys Uncertain significance Single submitter
- DGKH p.Gly20Ala Uncertain significance Single submitter
- DGKH p.Gly20Glu Uncertain significance Single submitter
- DGKH p.Gly269Asp Uncertain significance Single submitter
- DGKH p.Gly33Arg Uncertain significance Single submitter
- DGKH p.Gly672Ser Uncertain significance Single submitter
- DGKH p.Gly764Val Uncertain significance Single submitter
- DGKH p.His1086Tyr Uncertain significance Single submitter
- DGKH p.His1106Asn Uncertain significance Single submitter
- DGKH p.His1184Tyr Uncertain significance Single submitter
- DGKH p.His8Gln Uncertain significance Single submitter
- DGKH p.Ile1012Val Uncertain significance Single submitter
- DGKH p.Ile1195Val Uncertain significance Single submitter
- DGKH p.Ile755Val Uncertain significance Single submitter
- DGKH p.Ile868Val Uncertain significance Single submitter
- DGKH p.Leu1162Met Uncertain significance Single submitter
- DGKH p.Leu1163Phe Uncertain significance Single submitter
- DGKH p.Leu1183Phe Uncertain significance Single submitter
- DGKH p.Lys101Arg Uncertain significance Single submitter
- DGKH p.Pro1113Thr Uncertain significance Single submitter
- DGKH p.Pro1196Leu Uncertain significance Single submitter
- DGKH p.Pro11Leu Uncertain significance Single submitter
- DGKH p.Pro161Ser Uncertain significance Single submitter
- DGKH p.Pro370Ala Uncertain significance Single submitter
- DGKH p.Pro576Ala Uncertain significance Single submitter
- DGKH p.Pro614Ser Uncertain significance Single submitter
- DGKH p.Pro642Ala Uncertain significance Single submitter
- DGKH p.Pro840Ser Uncertain significance Single submitter
- DGKH p.Ser1063Cys Uncertain significance Single submitter
- DGKH p.Ser1214Asn Uncertain significance Single submitter
- DGKH p.Ser471Phe Uncertain significance Single submitter
- DGKH p.Ser575Ile Uncertain significance Single submitter
- DGKH p.Ser954Asn Uncertain significance Single submitter
- DGKH p.Thr1143Ile Uncertain significance Single submitter
- DGKH p.Thr222Ala Uncertain significance Single submitter
- DGKH p.Thr229Ile Uncertain significance Single submitter
- DGKH p.Thr26Ile Uncertain significance Single submitter
- DGKH p.Thr419Ile Uncertain significance Single submitter
- DGKH p.Thr529Met Uncertain significance Single submitter
- DGKH p.Thr752Met Uncertain significance Single submitter
- DGKH p.Thr974Asn Uncertain significance Single submitter
- DGKH p.Tyr162Asn Uncertain significance Single submitter
- DGKH p.Val1220Met Uncertain significance Single submitter
- DGKH p.Val156Ala Uncertain significance Single submitter
- DGKH p.Val519Ile Uncertain significance Single submitter
- DGKH p.Val523Ile Uncertain significance Single submitter
- DGKH p.Val538Ile Uncertain significance Single submitter
- DGKH p.Val543Met Uncertain significance Single submitter
- DGKH p.Val638Ala Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- DGKH p.Ala113Val Uncertain significance Single submitter
- DGKH p.Ala627Thr Uncertain significance Single submitter
- DGKH p.Arg1174Cys Uncertain significance Single submitter
- DGKH p.Arg62Gln Uncertain significance Single submitter
- DGKH p.Asp1161His Uncertain significance Single submitter
- DGKH p.Asp381Gly Uncertain significance Single submitter
- DGKH p.Cys329Tyr Uncertain significance Single submitter
- DGKH p.Glu163Gln Uncertain significance Single submitter
- DGKH p.Gly723Asp Uncertain significance Single submitter
- DGKH p.Ile1195Leu Uncertain significance Single submitter
- DGKH p.Leu1065Arg Uncertain significance Single submitter
- DGKH p.Leu196Val Uncertain significance Single submitter
- DGKH p.Pro931Leu Uncertain significance Single submitter
- DGKH p.Ser155Tyr Uncertain significance Single submitter
- DGKH p.Val543Ala Uncertain significance Single submitter
- DGKH p.Val770Ile Uncertain significance Single submitter
- DGKH p.Val938Ala Uncertain significance Single submitter
All DGKH variants
Pathogenic 1
- p.Gln345fs No assertion criteria hypercholesterolemia, familial, 1
Likely benign 13
- c.623-17_623-3dup Single submitter
- c.623-3_623-2insTTTTTTTTTTTTTTTTTTTT Single submitter
- c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTT Single submitter
- c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT Single submitter
- c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT Single submitter
- c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT Single submitter
- c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT Single submitter
- c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT Single submitter
- p.Ile297Val Single submitter
- p.Leu554= Single submitter
- p.Lys528= Single submitter
- p.Met888Val Single submitter
- p.Thr533Asn Single submitter
Uncertain significance 99
- p.Ala113Val Single submitter ⚠
- p.Ala118Thr Single submitter ⚠
- p.Ala19Ser Single submitter ⚠
- p.Ala506Thr Single submitter ⚠
- p.Ala627Thr Single submitter ⚠
- p.Ala673Val Single submitter ⚠
- p.Ala981Thr Single submitter ⚠
- p.Ala985Thr Single submitter ⚠
- p.Arg1174Cys Single submitter ⚠
- p.Arg1174Ser Single submitter ⚠
- p.Arg351His Single submitter ⚠
- p.Arg352His Single submitter ⚠
- p.Arg384Trp Single submitter ⚠
- p.Arg62Gln Single submitter ⚠
- p.Arg684Gln Single submitter ⚠
- p.Arg718Lys Single submitter
- p.Arg85Leu Single submitter ⚠
- p.Arg85Pro Single submitter ⚠
- p.Asn1164Ser Single submitter ⚠
- p.Asn125Lys Single submitter ⚠
- p.Asn858Tyr Single submitter ⚠
- p.Asp1161His Single submitter ⚠
- p.Asp1192Val Single submitter ⚠
- p.Asp317Gly Single submitter
- p.Asp381Gly Single submitter ⚠
- p.Asp670Val Single submitter ⚠
- p.Asp671Gly Single submitter ⚠
- p.Cys1007Arg Single submitter ⚠
- p.Cys329Tyr Single submitter ⚠
- p.Gln166His Single submitter ⚠
- p.Gln45Glu Single submitter ⚠
- p.Glu1109Lys Single submitter ⚠
- p.Glu1154Asp Single submitter ⚠
- p.Glu163Gln Single submitter ⚠
- p.Glu194Asp Single submitter ⚠
- p.Glu46Asp Single submitter ⚠
- p.Glu555Lys Single submitter ⚠
- p.Glu581Ala Single submitter ⚠
- p.Glu663Lys Single submitter ⚠
- p.Gly20Ala Single submitter ⚠
- p.Gly20Glu Single submitter ⚠
- p.Gly269Asp Single submitter ⚠
- p.Gly33Arg Single submitter ⚠
- p.Gly672Ser Single submitter ⚠
- p.Gly723Asp Single submitter ⚠
- p.Gly764Val Single submitter ⚠
- p.His1086Tyr Single submitter ⚠
- p.His1106Asn Single submitter ⚠
- p.His1184Tyr Single submitter ⚠
- p.His8Gln Single submitter ⚠
- p.Ile1012Val Single submitter ⚠
- p.Ile1195Leu Single submitter ⚠
- p.Ile1195Val Single submitter ⚠
- p.Ile499Leu Single submitter
- p.Ile755Val Single submitter ⚠
- p.Ile868Val Single submitter ⚠
- p.Leu1065Arg Single submitter ⚠
- p.Leu1162Met Single submitter ⚠
- p.Leu1163Phe Single submitter ⚠
- p.Leu1183Phe Single submitter ⚠
- p.Leu196Val Single submitter ⚠
- p.Lys101Arg Single submitter ⚠
- p.Met806Val Single submitter
- p.Pro1113Thr Single submitter ⚠
- p.Pro1196Leu Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro161Ser Single submitter ⚠
- p.Pro370Ala Single submitter ⚠
- p.Pro576Ala Single submitter ⚠
- p.Pro614Ser Single submitter ⚠
- p.Pro642Ala Single submitter ⚠
- p.Pro840Ser Single submitter ⚠
- p.Pro931Leu Single submitter ⚠
- p.Ser1063Cys Single submitter ⚠
- p.Ser1214Asn Single submitter ⚠
- p.Ser155Tyr Single submitter ⚠
- p.Ser331Asn Single submitter
- p.Ser471Phe Single submitter ⚠
- p.Ser575Ile Single submitter ⚠
- p.Ser954Asn Single submitter ⚠
- p.Thr1143Ile Single submitter ⚠
- p.Thr222Ala Single submitter ⚠
- p.Thr229Ile Single submitter ⚠
- p.Thr26Ile Single submitter ⚠
- p.Thr419Ile Single submitter ⚠
- p.Thr529Met Single submitter ⚠
- p.Thr752Met Single submitter ⚠
- p.Thr974Asn Single submitter ⚠
- p.Tyr162Asn Single submitter ⚠
- p.Val1220Met Single submitter ⚠
- p.Val156Ala Single submitter ⚠
- p.Val519Ile Single submitter ⚠
- p.Val523Ile Single submitter ⚠
- p.Val538Ile Single submitter ⚠
- p.Val543Ala Single submitter ⚠
- p.Val543Met Single submitter ⚠
- p.Val638Ala Single submitter ⚠
- p.Val770Ile Single submitter ⚠
- p.Val938Ala Single submitter ⚠