GK — 107 ClinVar variants
All ClinVar germline GK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
13 Pathogenic · 12 Likely pathogenic · 2 Conflicting · 30 Benign · 2 Benign/Likely benign · 10 Likely benign · 38 Uncertain significance
Full GK 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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors lean, ClinVar uncertain 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GK p.Val194Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GK p.Ala111Val Uncertain significance Single submitter
-
GK p.Ala469Val
Uncertain significance
Single submitter
inborn glycerol kinase deficiency
-
GK p.Arg419Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GK p.Arg49Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GK p.Asn232Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GK p.Asn79His
Uncertain significance
Single submitter
Inborn genetic diseases
- GK p.Asp116Asn Uncertain significance Single submitter
- GK p.Asp265Asn Uncertain significance Single submitter
- GK p.Cys72Arg Uncertain significance Single submitter
-
GK p.Glu483Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GK p.Glu69Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GK p.Gly19Arg Uncertain significance Single submitter
-
GK p.Gly19Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GK p.Gly286Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GK p.Lys250Arg
Uncertain significance
Single submitter
inborn glycerol kinase deficiency
-
GK p.Lys282Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- GK p.Met227Val Uncertain significance Single submitter
- GK p.Phe208Leu Uncertain significance Single submitter
- GK p.Ser91Arg Uncertain significance Single submitter
- GK p.Thr508Ala Uncertain significance Single submitter
- GK p.Val300Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
-
GK p.Leu36Phe
Uncertain significance
Multiple submitters
inborn glycerol kinase deficiency
-
GK p.Val168Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GK p.Arg234Trp
Likely benign
Single submitter
Inborn genetic diseases
- GK p.Asp317Ala Uncertain significance Single submitter
-
GK p.Glu221Lys
Likely benign
Single submitter
Inborn genetic diseases
-
GK p.Glu228Ala
Uncertain significance
Single submitter
inborn glycerol kinase deficiency
- GK p.Glu483Asp Uncertain significance Single submitter
-
GK p.Glu66Ala
Uncertain significance
Single submitter
inborn glycerol kinase deficiency
- GK p.Gly256Asp Uncertain significance Single submitter
-
GK p.Gly359Asp
Conflicting
Single submitter
Inborn genetic diseases
-
GK p.Ile80Val
Conflicting
Single submitter
Inborn genetic diseases
- GK p.Leu480Phe Uncertain significance Single submitter
- GK p.Lys128Glu Uncertain significance Single submitter
- GK p.Ser83Phe Uncertain significance Single submitter
-
GK p.Thr122Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- GK p.Thr97Ala Uncertain significance Single submitter
- GK p.Tyr362His Uncertain significance Single submitter
- GK p.Val249Met Likely benign Single submitter
-
GK p.Val475Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All GK variants
Pathogenic 13
- c.259+1255G>A Single submitter inborn glycerol kinase deficiency
- c.259+2T>C Single submitter
- c.851+1G>A Single submitter
- p.Arg172Ter Single submitter
- p.Asp303fs Single submitter
- p.Ser125_Leu126insTer Single submitter
- p.Trp181Ter Single submitter inborn glycerol kinase deficiency
- c.338-52_338-51insAluY No assertion criteria inborn glycerol kinase deficiency
- c.553-1G>C No assertion criteria inborn glycerol kinase deficiency
- p.Arg419Ter No assertion criteria inborn glycerol kinase deficiency
- p.Asn294Asp No assertion criteria inborn glycerol kinase deficiency
- p.Asp446Val No assertion criteria inborn glycerol kinase deficiency
- p.Trp509Arg No assertion criteria inborn glycerol kinase deficiency
Likely pathogenic 12
- c.152+1G>C Multiple submitters inborn glycerol kinase deficiency
- p.Tyr148Ter Multiple submitters inborn glycerol kinase deficiency
- c.1151+1G>T Single submitter Inborn genetic diseases
- c.1236+2T>C Single submitter Inborn genetic diseases
- c.553-2A>G Single submitter
- c.662+1G>T Single submitter inborn glycerol kinase deficiency
- p.Ala382Thr Single submitter Inborn genetic diseases
- p.Arg129fs Single submitter
- p.Arg411Gln Single submitter ⚠
- p.Cys220Ter Single submitter inborn glycerol kinase deficiency
- p.Ser30Ter Single submitter GK-related disorder
- p.Trp114Ter Single submitter inborn glycerol kinase deficiency
Conflicting classifications of pathogenicity 2
- p.Gly359Asp Single submitter Inborn genetic diseases ⚠
- p.Ile80Val Single submitter Inborn genetic diseases ⚠
Benign 30
- c.1054+22G>T Multiple submitters
- c.1357+20T>C Multiple submitters
- c.1501+181T>C Multiple submitters
- c.1669+121A>T Multiple submitters
- c.414+128G>A Multiple submitters
- c.552+142G>C Multiple submitters
- c.729+17C>A Multiple submitters
- c.730-22C>T Multiple submitters
- c.78+164G>C Multiple submitters
- c.894+79C>T Multiple submitters
- p.Ala167= Multiple submitters History of neurodevelopmental disorder
- p.Gln55= Multiple submitters Inborn genetic diseases
- p.His62= Multiple submitters
- c.1501+314dup Single submitter
- c.153-92A>C Single submitter
- c.1582+305del Single submitter
- c.259+2333G>T Single submitter
- c.259+2490_259+2491del Single submitter
- c.553-102C>T Single submitter
- c.553-196A>G Single submitter
- c.553-244G>A Single submitter
- c.663-174A>T Single submitter
- c.747+219G>A Single submitter
- c.748-22T>C Single submitter
- c.784-78_784-75dup Single submitter
- c.784-79_784-78insTAAA Single submitter
- c.894+208C>T Single submitter
- c.*214del Single submitter
- p.Glu124= Single submitter
- p.Lys515= Single submitter
Benign/Likely benign 2
- c.748-5A>T Multiple submitters History of neurodevelopmental disorder
- p.Ser371= Multiple submitters Inborn genetic diseases
Likely benign 10
- c.78+9G>A Single submitter
- p.Arg234Trp Single submitter Inborn genetic diseases ⚠
- p.Glu221Lys Single submitter Inborn genetic diseases ⚠
- p.Glu481Lys Single submitter Inborn genetic diseases
- p.His304= Single submitter
- p.Leu12= Single submitter
- p.Ser516= Single submitter
- p.Val249Met Single submitter ⚠
- c.259+1257G>A No assertion criteria GK-related disorder
- c.663-12_663-10del No assertion criteria GK-related disorder
Uncertain significance 38
- p.Leu36Phe Multiple submitters inborn glycerol kinase deficiency ⚠
- p.Val168Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val194Ile Multiple submitters Inborn genetic diseases ⚠
- c.*1A>G Single submitter Global developmental delay
- p.Ala111Val Single submitter ⚠
- p.Ala202= Single submitter
- p.Ala469Val Single submitter inborn glycerol kinase deficiency ⚠
- p.Arg419Gln Single submitter Inborn genetic diseases ⚠
- p.Arg49Lys Single submitter Inborn genetic diseases ⚠
- p.Asn232Ser Single submitter Inborn genetic diseases ⚠
- p.Asn79His Single submitter Inborn genetic diseases ⚠
- p.Asp116Asn Single submitter ⚠
- p.Asp265Asn Single submitter ⚠
- p.Asp317Ala Single submitter ⚠
- p.Cys72Arg Single submitter ⚠
- p.Glu228Ala Single submitter inborn glycerol kinase deficiency ⚠
- p.Glu483Asp Single submitter ⚠
- p.Glu483Lys Single submitter Inborn genetic diseases ⚠
- p.Glu66Ala Single submitter inborn glycerol kinase deficiency ⚠
- p.Glu69Gln Single submitter Inborn genetic diseases ⚠
- p.Gly19Arg Single submitter ⚠
- p.Gly19Ser Single submitter Inborn genetic diseases ⚠
- p.Gly256Asp Single submitter ⚠
- p.Gly286Glu Single submitter Inborn genetic diseases ⚠
- p.Leu480Phe Single submitter ⚠
- p.Lys128Glu Single submitter ⚠
- p.Lys250Arg Single submitter inborn glycerol kinase deficiency ⚠
- p.Lys282Glu Single submitter Inborn genetic diseases ⚠
- p.Met227Val Single submitter ⚠
- p.Phe208Leu Single submitter ⚠
- p.Ser83Phe Single submitter ⚠
- p.Ser91Arg Single submitter ⚠
- p.Thr122Ala Single submitter Inborn genetic diseases ⚠
- p.Thr508Ala Single submitter ⚠
- p.Thr97Ala Single submitter ⚠
- p.Tyr362His Single submitter ⚠
- p.Val300Ile Single submitter ⚠
- p.Val475Ile Single submitter Inborn genetic diseases ⚠