HK2 — 152 ClinVar variants
All ClinVar germline HK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
12 Benign · 21 Likely benign · 119 Uncertain significance
Full HK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 82
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HK2 p.Arg44Cys Uncertain significance Multiple submitters
- HK2 p.Ala352Thr Uncertain significance Single submitter
- HK2 p.Ala383Thr Uncertain significance Single submitter
- HK2 p.Ala507Val Uncertain significance Single submitter
- HK2 p.Ala583Ser Uncertain significance Single submitter
- HK2 p.Ala583Val Uncertain significance Single submitter
- HK2 p.Ala640Val Uncertain significance Single submitter
- HK2 p.Ala839Val Uncertain significance Single submitter
- HK2 p.Ala872Val Uncertain significance Single submitter
- HK2 p.Arg190Trp Uncertain significance Single submitter
- HK2 p.Arg243Cys Uncertain significance Single submitter
- HK2 p.Arg333Cys Uncertain significance Single submitter
- HK2 p.Arg358Gln Uncertain significance Single submitter
- HK2 p.Arg373Gln Uncertain significance Single submitter
- HK2 p.Arg405Gln Uncertain significance Single submitter
- HK2 p.Arg42Trp Uncertain significance Single submitter
- HK2 p.Arg433Gln Uncertain significance Single submitter
- HK2 p.Arg433Trp Uncertain significance Single submitter
- HK2 p.Arg470Cys Uncertain significance Single submitter
- HK2 p.Arg722His Uncertain significance Single submitter
- HK2 p.Arg771Leu Uncertain significance Single submitter
- HK2 p.Arg849Cys Uncertain significance Single submitter
- HK2 p.Arg910His Uncertain significance Single submitter
- HK2 p.Arg91Cys Uncertain significance Single submitter
- HK2 p.Arg91His Uncertain significance Single submitter
- HK2 p.Asn100Asp Uncertain significance Single submitter
- HK2 p.Asn15Lys Uncertain significance Single submitter
- HK2 p.Asn223Ser Uncertain significance Single submitter
- HK2 p.Asn330Lys Uncertain significance Single submitter
- HK2 p.Asn547Thr Uncertain significance Single submitter
- HK2 p.Asp362Glu Uncertain significance Single submitter
- HK2 p.Asp632Tyr Uncertain significance Single submitter
- HK2 p.Asp760Asn Uncertain significance Single submitter
- HK2 p.Asp815Asn Uncertain significance Single submitter
- HK2 p.Asp815His Uncertain significance Single submitter
- HK2 p.Asp99Asn Uncertain significance Single submitter
- HK2 p.Gln110Lys Uncertain significance Single submitter
- HK2 p.Gln160Lys Uncertain significance Single submitter
- HK2 p.Gln18Glu Uncertain significance Single submitter
- HK2 p.Gln365Arg Uncertain significance Single submitter
- HK2 p.Glu38Lys Uncertain significance Single submitter
- HK2 p.Glu629Lys Uncertain significance Single submitter
- HK2 p.Glu631Lys Uncertain significance Single submitter
- HK2 p.Glu810Ala Uncertain significance Single submitter
- HK2 p.Gly321Arg Uncertain significance Single submitter
- HK2 p.Gly321Glu Uncertain significance Single submitter
- HK2 p.Gly437Ser Uncertain significance Single submitter
- HK2 p.Gly452Ala Uncertain significance Single submitter
- HK2 p.Gly571Arg Uncertain significance Single submitter
- HK2 p.Gly780Ala Uncertain significance Single submitter
- HK2 p.Gly859Val Uncertain significance Single submitter
- HK2 p.Gly896Asp Uncertain significance Single submitter
- HK2 p.His868Gln Uncertain significance Single submitter
- HK2 p.Ile189Asn Uncertain significance Single submitter
- HK2 p.Ile226Thr Uncertain significance Single submitter
- HK2 p.Ile559Thr Uncertain significance Single submitter
- HK2 p.Ile845Met Uncertain significance Single submitter
- HK2 p.Leu188Val Uncertain significance Single submitter
- HK2 p.Leu512Gln Uncertain significance Single submitter
- HK2 p.Leu533Phe Uncertain significance Single submitter
- HK2 p.Leu732Phe Uncertain significance Single submitter
- HK2 p.Lys618Asn Uncertain significance Single submitter
- HK2 p.Met687Val Uncertain significance Single submitter
- HK2 p.Met838Leu Uncertain significance Single submitter
- HK2 p.Phe137Cys Uncertain significance Single submitter
- HK2 p.Phe264Leu Uncertain significance Single submitter
- HK2 p.Phe725Ser Uncertain significance Single submitter
- HK2 p.Pro288Leu Uncertain significance Single submitter
- HK2 p.Pro288Ser Uncertain significance Single submitter
- HK2 p.Pro563Leu Uncertain significance Single submitter
- HK2 p.Pro869Leu Uncertain significance Single submitter
- HK2 p.Pro884Leu Uncertain significance Single submitter
- HK2 p.Ser269Leu Uncertain significance Single submitter
- HK2 p.Ser382Thr Uncertain significance Single submitter
- HK2 p.Ser480Arg Uncertain significance Single submitter
- HK2 p.Trp94Leu Uncertain significance Single submitter
- HK2 p.Tyr865Cys Uncertain significance Single submitter
- HK2 p.Tyr9Phe Uncertain significance Single submitter
- HK2 p.Val19Leu Uncertain significance Single submitter
- HK2 p.Val369Met Uncertain significance Single submitter
- HK2 p.Val727Met Uncertain significance Single submitter
- HK2 p.Val754Phe Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- HK2 p.Ala387Thr Uncertain significance Single submitter
- HK2 p.Ala464Val Uncertain significance Single submitter
- HK2 p.Arg358Trp Uncertain significance Single submitter
- HK2 p.Arg396Cys Uncertain significance Single submitter
- HK2 p.Arg407Cys Uncertain significance Single submitter
- HK2 p.Arg426Pro Uncertain significance Single submitter
- HK2 p.Arg432Leu Uncertain significance Single submitter
- HK2 p.Arg441His Uncertain significance Single submitter
- HK2 p.Arg468Cys Uncertain significance Single submitter
- HK2 p.Arg470His Uncertain significance Single submitter
- HK2 p.Arg544Cys Uncertain significance Single submitter
- HK2 p.Arg544His Uncertain significance Single submitter
- HK2 p.Arg546Trp Uncertain significance Single submitter
- HK2 p.Arg644Gln Uncertain significance Single submitter
- HK2 p.Arg702Trp Uncertain significance Single submitter
- HK2 p.Arg764Cys Uncertain significance Single submitter
- HK2 p.Arg828Trp Uncertain significance Single submitter
- HK2 p.Asp23Glu Uncertain significance Single submitter
- HK2 p.Cys717Phe Uncertain significance Single submitter
- HK2 p.Glu252Lys Uncertain significance Single submitter
- HK2 p.Leu542Val Uncertain significance Single submitter
- HK2 p.Leu750Met Uncertain significance Single submitter
- HK2 p.Met589Val Uncertain significance Single submitter
- HK2 p.Pro436Leu Uncertain significance Single submitter
- HK2 p.Pro436Ser Uncertain significance Single submitter
- HK2 p.Thr778Ser Uncertain significance Single submitter
- HK2 p.Trp261Cys Uncertain significance Single submitter
- HK2 p.Tyr27Asn Uncertain significance Single submitter
- HK2 p.Tyr588His Uncertain significance Single submitter
- HK2 p.Val185Ala Uncertain significance Single submitter
- HK2 p.Val509Ile Uncertain significance Single submitter
- HK2 p.Val705Met Uncertain significance Single submitter
-
HK2 p.Pro736Leu
Likely benign
No assertion criteria
HK2-related disorder
All HK2 variants
Benign 12
- p.Tyr515= Multiple submitters
- p.Glu304= Single submitter
- c.591+10G>A No assertion criteria HK2-related disorder
- p.Ala387Ser No assertion criteria HK2-related disorder
- p.Ala831= No assertion criteria HK2-related disorder
- p.Arg844Lys No assertion criteria HK2-related disorder
- p.Asn692= No assertion criteria HK2-related disorder
- p.Asp251= No assertion criteria HK2-related disorder
- p.Gln142His No assertion criteria HK2-related disorder
- p.Gly321Ala No assertion criteria HK2-related disorder
- p.Leu766= No assertion criteria HK2-related disorder
- p.Pro736= No assertion criteria HK2-related disorder
Likely benign 21
- c.375+7C>A Single submitter
- p.Ala392= Single submitter
- p.Ala853Thr Single submitter
- p.Arg426Cys Single submitter
- p.Asp482Glu Single submitter
- p.Ile410Val Single submitter
- p.Thr570= Single submitter
- p.Ala113= No assertion criteria HK2-related disorder
- p.Ala387= No assertion criteria HK2-related disorder
- p.Ala424= No assertion criteria HK2-related disorder
- p.Asp465His No assertion criteria HK2-related disorder
- p.Asp852= No assertion criteria HK2-related disorder
- p.Gly322= No assertion criteria HK2-related disorder
- p.Ile201= No assertion criteria HK2-related disorder
- p.Leu586= No assertion criteria HK2-related disorder
- p.Phe167= No assertion criteria HK2-related disorder
- p.Pro563= No assertion criteria HK2-related disorder
- p.Pro736Leu No assertion criteria HK2-related disorder ⚠
- p.Ser155= No assertion criteria HK2-related disorder
- p.Thr331= No assertion criteria HK2-related disorder
- p.Thr664= No assertion criteria HK2-related disorder
Uncertain significance 119
- p.Arg44Cys Multiple submitters ⚠
- p.Ala352Thr Single submitter ⚠
- p.Ala383Thr Single submitter ⚠
- p.Ala387Thr Single submitter ⚠
- p.Ala464Val Single submitter ⚠
- p.Ala507Val Single submitter ⚠
- p.Ala583Ser Single submitter ⚠
- p.Ala583Val Single submitter ⚠
- p.Ala640Val Single submitter ⚠
- p.Ala839Val Single submitter ⚠
- p.Ala872Val Single submitter ⚠
- p.Arg190Trp Single submitter ⚠
- p.Arg243Cys Single submitter ⚠
- p.Arg333Cys Single submitter ⚠
- p.Arg358Gln Single submitter ⚠
- p.Arg358Trp Single submitter ⚠
- p.Arg373Gln Single submitter ⚠
- p.Arg396Cys Single submitter ⚠
- p.Arg405Gln Single submitter ⚠
- p.Arg407Cys Single submitter ⚠
- p.Arg426Pro Single submitter ⚠
- p.Arg42Trp Single submitter ⚠
- p.Arg432Leu Single submitter ⚠
- p.Arg433Gln Single submitter ⚠
- p.Arg433Trp Single submitter ⚠
- p.Arg441His Single submitter ⚠
- p.Arg468Cys Single submitter ⚠
- p.Arg470Cys Single submitter ⚠
- p.Arg470His Single submitter ⚠
- p.Arg544Cys Single submitter ⚠
- p.Arg544His Single submitter ⚠
- p.Arg546Trp Single submitter ⚠
- p.Arg644Gln Single submitter ⚠
- p.Arg702Trp Single submitter ⚠
- p.Arg722His Single submitter ⚠
- p.Arg764Cys Single submitter ⚠
- p.Arg771Leu Single submitter ⚠
- p.Arg828Trp Single submitter ⚠
- p.Arg849Cys Single submitter ⚠
- p.Arg910His Single submitter ⚠
- p.Arg91Cys Single submitter ⚠
- p.Arg91His Single submitter ⚠
- p.Asn100Asp Single submitter ⚠
- p.Asn15Lys Single submitter ⚠
- p.Asn223Ser Single submitter ⚠
- p.Asn330Lys Single submitter ⚠
- p.Asn547Thr Single submitter ⚠
- p.Asp23Glu Single submitter ⚠
- p.Asp251Asn Single submitter
- p.Asp362Glu Single submitter ⚠
- p.Asp632Tyr Single submitter ⚠
- p.Asp760Asn Single submitter ⚠
- p.Asp815Asn Single submitter ⚠
- p.Asp815His Single submitter ⚠
- p.Asp99Asn Single submitter ⚠
- p.Cys717Phe Single submitter ⚠
- p.Gln110Lys Single submitter ⚠
- p.Gln160Lys Single submitter ⚠
- p.Gln18Glu Single submitter ⚠
- p.Gln365Arg Single submitter ⚠
- p.Glu252Lys Single submitter ⚠
- p.Glu38Lys Single submitter ⚠
- p.Glu629Lys Single submitter ⚠
- p.Glu631Lys Single submitter ⚠
- p.Glu810Ala Single submitter ⚠
- p.Gly321Arg Single submitter ⚠
- p.Gly321Glu Single submitter ⚠
- p.Gly332Asp Single submitter
- p.Gly437Ser Single submitter ⚠
- p.Gly452Ala Single submitter ⚠
- p.Gly571Arg Single submitter ⚠
- p.Gly780Ala Single submitter ⚠
- p.Gly859Val Single submitter ⚠
- p.Gly896Asp Single submitter ⚠
- p.His428Arg Single submitter
- p.His868Gln Single submitter ⚠
- p.Ile189Asn Single submitter ⚠
- p.Ile226Thr Single submitter ⚠
- p.Ile559Thr Single submitter ⚠
- p.Ile845Met Single submitter ⚠
- p.Leu188Val Single submitter ⚠
- p.Leu512Gln Single submitter ⚠
- p.Leu533Phe Single submitter ⚠
- p.Leu542Val Single submitter ⚠
- p.Leu732Phe Single submitter ⚠
- p.Leu750Met Single submitter ⚠
- p.Lys618Asn Single submitter ⚠
- p.Met589Val Single submitter ⚠
- p.Met687Val Single submitter ⚠
- p.Met838Leu Single submitter ⚠
- p.Phe137Cys Single submitter ⚠
- p.Phe264Leu Single submitter ⚠
- p.Phe725Ser Single submitter ⚠
- p.Pro288Leu Single submitter ⚠
- p.Pro288Ser Single submitter ⚠
- p.Pro436Leu Single submitter ⚠
- p.Pro436Ser Single submitter ⚠
- p.Pro563Leu Single submitter ⚠
- p.Pro869Leu Single submitter ⚠
- p.Pro884Leu Single submitter ⚠
- p.Ser269Leu Single submitter ⚠
- p.Ser382Thr Single submitter ⚠
- p.Ser480Arg Single submitter ⚠
- p.Thr66Ala Single submitter
- p.Thr778Ser Single submitter ⚠
- p.Trp261Cys Single submitter ⚠
- p.Trp94Leu Single submitter ⚠
- p.Tyr27Asn Single submitter ⚠
- p.Tyr588His Single submitter ⚠
- p.Tyr865Cys Single submitter ⚠
- p.Tyr9Phe Single submitter ⚠
- p.Val185Ala Single submitter ⚠
- p.Val19Leu Single submitter ⚠
- p.Val369Met Single submitter ⚠
- p.Val431Leu Single submitter
- p.Val509Ile Single submitter ⚠
- p.Val705Met Single submitter ⚠
- p.Val727Met Single submitter ⚠
- p.Val754Phe Single submitter ⚠