KHK — 115 ClinVar variants
All ClinVar germline KHK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Pathogenic · 2 Conflicting · 20 Benign · 1 Benign/Likely benign · 10 Likely benign · 81 Uncertain significance
Full KHK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KHK p.Ala155Thr
Uncertain significance
Multiple submitters
essential fructosuria
-
KHK p.Ala230Thr
Uncertain significance
Multiple submitters
essential fructosuria
-
KHK p.Asn157Thr
Uncertain significance
Multiple submitters
essential fructosuria
-
KHK p.Ser273Asn
Uncertain significance
Multiple submitters
essential fructosuria
-
KHK p.Thr158Asn
Uncertain significance
Multiple submitters
essential fructosuria
- KHK p.Ala155Gly Uncertain significance Single submitter
- KHK p.Ala55Pro Uncertain significance Single submitter
- KHK p.Ala55Thr Uncertain significance Single submitter
- KHK p.Arg141Gln Uncertain significance Single submitter
- KHK p.Arg141Trp Uncertain significance Single submitter
-
KHK p.Arg167Gln
Uncertain significance
Single submitter
essential fructosuria
-
KHK p.Cys289Tyr
Uncertain significance
Single submitter
essential fructosuria
- KHK p.Gln132His Uncertain significance Single submitter
- KHK p.Gln35Arg Uncertain significance Single submitter
- KHK p.Gln38His Uncertain significance Single submitter
- KHK p.Gly186Arg Uncertain significance Single submitter
-
KHK p.Gly186Glu
Uncertain significance
Single submitter
essential fructosuria
-
KHK p.Gly40Arg
Uncertain significance
Single submitter
essential fructosuria
-
KHK p.Gly80Ser
Uncertain significance
Single submitter
essential fructosuria
- KHK p.Ile30Leu Uncertain significance Single submitter
-
KHK p.Leu233Arg
Uncertain significance
Single submitter
essential fructosuria
- KHK p.Leu53Phe Uncertain significance Single submitter
- KHK p.Lys127Arg Uncertain significance Single submitter
- KHK p.Met60Leu Uncertain significance Single submitter
- KHK p.Phe280Leu Uncertain significance Single submitter
- KHK p.Ser144Leu Uncertain significance Single submitter
- KHK p.Val20Gly Uncertain significance Single submitter
-
KHK p.Val215Leu
Uncertain significance
Single submitter
essential fructosuria
-
KHK p.Val274Met
Uncertain significance
Single submitter
essential fructosuria
Predictors split 13
The independent predictors disagree with each other — read with care.
-
KHK p.Glu276Lys
Uncertain significance
Multiple submitters
essential fructosuria
-
KHK p.Val49Ile
Benign
Multiple submitters
essential fructosuria
-
KHK p.Arg167Trp
Uncertain significance
Single submitter
essential fructosuria
-
KHK p.Arg176Gln
Likely benign
Single submitter
essential fructosuria
- KHK p.Arg214Cys Uncertain significance Single submitter
- KHK p.Glu228Val Uncertain significance Single submitter
- KHK p.Pro246Leu Uncertain significance Single submitter
- KHK p.Ser144Trp Uncertain significance Single submitter
-
KHK p.Ser34Tyr
Uncertain significance
Single submitter
essential fructosuria
- KHK p.Val251Leu Uncertain significance Single submitter
-
KHK p.Val264Ile
Conflicting
Single submitter
essential fructosuria
- KHK p.Val298Met Uncertain significance Single submitter
-
KHK p.Ala43Thr
Pathogenic
No assertion criteria
essential fructosuria
All KHK variants
Pathogenic 1
- p.Ala43Thr No assertion criteria essential fructosuria ⚠
Conflicting classifications of pathogenicity 2
- c.210-253G>A Single submitter essential fructosuria
- p.Val264Ile Single submitter essential fructosuria ⚠
Benign 20
- c.210-328A>G Multiple submitters essential fructosuria
- c.-245G>A Multiple submitters essential fructosuria
- c.-324C>T Multiple submitters essential fructosuria
- c.-469A>C Multiple submitters essential fructosuria
- c.*1009T>G Multiple submitters essential fructosuria
- c.*540G>C Multiple submitters essential fructosuria
- c.*580T>C Multiple submitters essential fructosuria
- c.*754T>C Multiple submitters essential fructosuria
- c.*767C>T Multiple submitters essential fructosuria
- c.*79G>A Multiple submitters essential fructosuria
- p.Leu53= Multiple submitters essential fructosuria
- p.Val49Ile Multiple submitters essential fructosuria ⚠
- c.654-9G>A Single submitter
- c.811+5G>C Single submitter essential fructosuria
- c.-444C>A Single submitter essential fructosuria
- c.-449T>G Single submitter essential fructosuria
- c.*1008G>A Single submitter essential fructosuria
- c.*505G>A Single submitter essential fructosuria
- c.*554C>T Single submitter essential fructosuria
- c.*806G>A Single submitter essential fructosuria
Benign/Likely benign 1
- p.Gly293= Multiple submitters essential fructosuria
Likely benign 10
- c.*27A>G Single submitter essential fructosuria
- c.*623G>A Single submitter essential fructosuria
- p.Arg176Gln Single submitter essential fructosuria ⚠
- p.Asp295= Single submitter essential fructosuria
- p.Met63Ile Single submitter essential fructosuria
- p.Ser144= Single submitter
- c.418-5A>G No assertion criteria KHK-related disorder
- p.Asp154= No assertion criteria KHK-related disorder
- p.Ser273Gly No assertion criteria KHK-related disorder
- p.Thr48= No assertion criteria KHK-related disorder
Uncertain significance 81
- c.*469G>A Multiple submitters essential fructosuria
- p.Ala155Thr Multiple submitters essential fructosuria ⚠
- p.Ala230Thr Multiple submitters essential fructosuria ⚠
- p.Asn157Thr Multiple submitters essential fructosuria ⚠
- p.Glu276Lys Multiple submitters essential fructosuria ⚠
- p.Ser273Asn Multiple submitters essential fructosuria ⚠
- p.Thr158Asn Multiple submitters essential fructosuria ⚠
- c.210-199T>C Single submitter essential fructosuria
- c.210-200A>G Single submitter essential fructosuria
- c.210-211C>T Single submitter essential fructosuria
- c.210-245C>G Single submitter essential fructosuria
- c.210-269T>G Single submitter
- c.210-282G>A Single submitter
- c.210-283C>T Single submitter essential fructosuria
- c.210-301C>T Single submitter
- c.210-304C>T Single submitter
- c.210-334C>T Single submitter essential fructosuria
- c.653+5G>A Single submitter essential fructosuria
- c.-140G>A Single submitter essential fructosuria
- c.-15T>G Single submitter essential fructosuria
- c.-379T>A Single submitter essential fructosuria
- c.-97G>A Single submitter essential fructosuria
- c.*11C>T Single submitter essential fructosuria
- c.*159G>A Single submitter essential fructosuria
- c.*176G>A Single submitter essential fructosuria
- c.*198A>C Single submitter essential fructosuria
- c.*200A>G Single submitter essential fructosuria
- c.*214G>A Single submitter essential fructosuria
- c.*259T>G Single submitter essential fructosuria
- c.*28T>C Single submitter essential fructosuria
- c.*326G>A Single submitter essential fructosuria
- c.*49C>T Single submitter essential fructosuria
- c.*52C>T Single submitter essential fructosuria
- c.*596C>T Single submitter essential fructosuria
- c.*739G>C Single submitter essential fructosuria
- c.*791G>A Single submitter essential fructosuria
- c.*810A>C Single submitter essential fructosuria
- c.*896T>G Single submitter essential fructosuria
- c.*954C>T Single submitter essential fructosuria
- p.Ala155Gly Single submitter ⚠
- p.Ala55Pro Single submitter ⚠
- p.Ala55Thr Single submitter ⚠
- p.Arg141Gln Single submitter ⚠
- p.Arg141Trp Single submitter ⚠
- p.Arg167Gln Single submitter essential fructosuria ⚠
- p.Arg167Trp Single submitter essential fructosuria ⚠
- p.Arg214Cys Single submitter ⚠
- p.Cys289Tyr Single submitter essential fructosuria ⚠
- p.Gln132His Single submitter ⚠
- p.Gln35Arg Single submitter ⚠
- p.Gln38His Single submitter ⚠
- p.Gln38Ter Single submitter essential fructosuria
- p.Gln5= Single submitter essential fructosuria
- p.Glu228Val Single submitter ⚠
- p.Gly186Arg Single submitter ⚠
- p.Gly186Glu Single submitter essential fructosuria ⚠
- p.Gly229= Single submitter essential fructosuria
- p.Gly40Arg Single submitter essential fructosuria ⚠
- p.Gly80Ser Single submitter essential fructosuria ⚠
- p.Ile30Leu Single submitter ⚠
- p.Leu233Arg Single submitter essential fructosuria ⚠
- p.Leu53Phe Single submitter ⚠
- p.Leu7= Single submitter essential fructosuria
- p.Lys127Arg Single submitter ⚠
- p.Met60Leu Single submitter ⚠
- p.Phe280Leu Single submitter ⚠
- p.Pro246Leu Single submitter ⚠
- p.Ser144Leu Single submitter ⚠
- p.Ser144Trp Single submitter ⚠
- p.Ser169= Single submitter essential fructosuria
- p.Ser34Tyr Single submitter essential fructosuria ⚠
- p.Val128Ala Single submitter
- p.Val16= Single submitter essential fructosuria
- p.Val170Met Single submitter
- p.Val188Met Single submitter essential fructosuria
- p.Val20Gly Single submitter ⚠
- p.Val215Leu Single submitter essential fructosuria ⚠
- p.Val250Met Single submitter
- p.Val251Leu Single submitter ⚠
- p.Val274Met Single submitter essential fructosuria ⚠
- p.Val298Met Single submitter ⚠