GCKR — 284 ClinVar variants
All ClinVar germline GCKR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →
10 Conflicting · 20 Benign · 4 Benign/Likely benign · 68 Likely benign · 182 Uncertain significance
Full GCKR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 136
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GCKR p.Glu77Gly
Conflicting
Single submitter
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
- GCKR p.Pro383Thr Conflicting Single submitter
-
GCKR p.Val103Met
Conflicting
Single submitter
hypertriglyceridemia
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.
- GCKR p.Ala302Thr Uncertain significance Multiple submitters
- GCKR p.Ala58Thr Uncertain significance Multiple submitters
-
GCKR p.Arg478His
Uncertain significance
Multiple submitters
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
- GCKR p.Arg6Gln Uncertain significance Multiple submitters
- GCKR p.Asn246Ile Uncertain significance Multiple submitters
- GCKR p.Asn503Ser Uncertain significance Multiple submitters
- GCKR p.Glu25Lys Uncertain significance Multiple submitters
- GCKR p.Glu536Lys Uncertain significance Multiple submitters
- GCKR p.Glu77Lys Uncertain significance Multiple submitters
- GCKR p.Gly354Val Uncertain significance Multiple submitters
- GCKR p.His278Asp Uncertain significance Multiple submitters
- GCKR p.Ile219Thr Uncertain significance Multiple submitters
- GCKR p.Phe526Val Uncertain significance Multiple submitters
-
GCKR p.Pro247Leu
Uncertain significance
Multiple submitters
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
-
GCKR p.Ser183Phe
Uncertain significance
Multiple submitters
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
- GCKR p.Val330Met Uncertain significance Multiple submitters
- GCKR p.Val601Ile Uncertain significance Multiple submitters
- GCKR p.Ala277Ser Uncertain significance Single submitter
- GCKR p.Ala589Thr Uncertain significance Single submitter
- GCKR p.Arg112Trp Uncertain significance Single submitter
- GCKR p.Arg215Ser Uncertain significance Single submitter
- GCKR p.Arg290Ser Uncertain significance Single submitter
- GCKR p.Arg297Gln Uncertain significance Single submitter
- GCKR p.Arg297Trp Uncertain significance Single submitter
- GCKR p.Arg518Trp Uncertain significance Single submitter
- GCKR p.Arg525Trp Uncertain significance Single submitter
- GCKR p.Arg553Trp Uncertain significance Single submitter
- GCKR p.Arg6Trp Uncertain significance Single submitter
- GCKR p.Asp221His Uncertain significance Single submitter
- GCKR p.Asp282Val Uncertain significance Single submitter
- GCKR p.Asp550Glu Uncertain significance Single submitter
- GCKR p.Asp57Gly Uncertain significance Single submitter
- GCKR p.Asp98Glu Uncertain significance Single submitter
- GCKR p.Gln384Arg Uncertain significance Single submitter
- GCKR p.Gln443Arg Uncertain significance Single submitter
- GCKR p.Gln91Lys Uncertain significance Single submitter
- GCKR p.Glu252Lys Uncertain significance Single submitter
- GCKR p.Glu294Gln Uncertain significance Single submitter
- GCKR p.Glu32Asp Uncertain significance Single submitter
- GCKR p.Glu377Gly Uncertain significance Single submitter
- GCKR p.Glu390Lys Uncertain significance Single submitter
- GCKR p.Glu428Gly Uncertain significance Single submitter
- GCKR p.Glu621Asp Uncertain significance Single submitter
-
GCKR p.Gly106Arg
Uncertain significance
Single submitter
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
- GCKR p.Gly159Arg Uncertain significance Single submitter
- GCKR p.Gly169Arg Uncertain significance Single submitter
- GCKR p.Gly177Asp Uncertain significance Single submitter
- GCKR p.Gly17Asp Uncertain significance Single submitter
- GCKR p.Gly189Asp Uncertain significance Single submitter
- GCKR p.Gly250Arg Uncertain significance Single submitter
- GCKR p.Gly253Cys Uncertain significance Single submitter
- GCKR p.Gly262Val Uncertain significance Single submitter
- GCKR p.Gly334Asp Uncertain significance Single submitter
- GCKR p.Gly99Trp Uncertain significance Single submitter
- GCKR p.His432Tyr Uncertain significance Single submitter
- GCKR p.His504Arg Uncertain significance Single submitter
- GCKR p.Ile409Val Uncertain significance Single submitter
- GCKR p.Ile457Val Uncertain significance Single submitter
- GCKR p.Leu116Phe Uncertain significance Single submitter
- GCKR p.Leu292Phe Uncertain significance Single submitter
- GCKR p.Leu416Val Uncertain significance Single submitter
- GCKR p.Leu452Phe Uncertain significance Single submitter
- GCKR p.Leu496Phe Uncertain significance Single submitter
- GCKR p.Leu591Val Uncertain significance Single submitter
- GCKR p.Leu80Pro Uncertain significance Single submitter
- GCKR p.Lys312Glu Uncertain significance Single submitter
- GCKR p.Lys33Arg Uncertain significance Single submitter
- GCKR p.Lys43Glu Uncertain significance Single submitter
- GCKR p.Lys451Asn Uncertain significance Single submitter
- GCKR p.Lys5Arg Uncertain significance Single submitter
- GCKR p.Lys89Gln Uncertain significance Single submitter
- GCKR p.Met195Leu Uncertain significance Single submitter
- GCKR p.Met195Val Uncertain significance Single submitter
- GCKR p.Met213Val Uncertain significance Single submitter
- GCKR p.Met317Ile Uncertain significance Single submitter
- GCKR p.Met317Lys Uncertain significance Single submitter
- GCKR p.Met522Val Uncertain significance Single submitter
- GCKR p.Phe465Ser Uncertain significance Single submitter
- GCKR p.Pro132Ala Uncertain significance Single submitter
- GCKR p.Pro132Leu Uncertain significance Single submitter
- GCKR p.Pro547Thr Uncertain significance Single submitter
- GCKR p.Pro608Ser Uncertain significance Single submitter
- GCKR p.Pro622Ser Uncertain significance Single submitter
- GCKR p.Pro97Leu Uncertain significance Single submitter
- GCKR p.Ser264Ile Uncertain significance Single submitter
- GCKR p.Ser319Cys Uncertain significance Single submitter
- GCKR p.Ser369Gly Uncertain significance Single submitter
- GCKR p.Ser395Cys Uncertain significance Single submitter
- GCKR p.Ser490Asn Uncertain significance Single submitter
- GCKR p.Ser603Asn Uncertain significance Single submitter
- GCKR p.Thr198Ser Uncertain significance Single submitter
- GCKR p.Thr298Ile Uncertain significance Single submitter
- GCKR p.Thr482Ala Uncertain significance Single submitter
- GCKR p.Val175Gly Uncertain significance Single submitter
- GCKR p.Val204Ile Uncertain significance Single submitter
- GCKR p.Val333Leu Uncertain significance Single submitter
- GCKR p.Val441Met Uncertain significance Single submitter
- GCKR p.Val485Leu Uncertain significance Single submitter
- GCKR p.Val489Leu Uncertain significance Single submitter
- GCKR p.Val489Met Uncertain significance Single submitter
- GCKR p.Val84Ala Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- GCKR p.Arg581Trp Uncertain significance Multiple submitters
- GCKR p.Gln234Pro Likely benign Multiple submitters
- GCKR p.Val187Leu Uncertain significance Multiple submitters
- GCKR p.Ala519Thr Conflicting Single submitter
- GCKR p.Ala587Ser Uncertain significance Single submitter
- GCKR p.Arg232Gln Uncertain significance Single submitter
- GCKR p.Arg259Gln Uncertain significance Single submitter
- GCKR p.Arg259Trp Uncertain significance Single submitter
- GCKR p.Arg518Gln Uncertain significance Single submitter
- GCKR p.Cys534Arg Uncertain significance Single submitter
- GCKR p.Gln477His Uncertain significance Single submitter
- GCKR p.Glu162Lys Uncertain significance Single submitter
- GCKR p.Glu92Gly Uncertain significance Single submitter
- GCKR p.Gly141Arg Uncertain significance Single submitter
- GCKR p.Gly141Ser Uncertain significance Single submitter
- GCKR p.Gly256Ser Uncertain significance Single submitter
- GCKR p.Gly354Arg Uncertain significance Single submitter
- GCKR p.Ile49Thr Uncertain significance Single submitter
- GCKR p.Leu116Val Uncertain significance Single submitter
- GCKR p.Leu480Gln Uncertain significance Single submitter
- GCKR p.Leu52Gln Uncertain significance Single submitter
- GCKR p.Leu539Pro Uncertain significance Single submitter
- GCKR p.Phe387Ser Uncertain significance Single submitter
- GCKR p.Pro608Leu Uncertain significance Single submitter
- GCKR p.Ser118Leu Uncertain significance Single submitter
- GCKR p.Ser583Leu Uncertain significance Single submitter
- GCKR p.Thr401Met Uncertain significance Single submitter
- GCKR p.Tyr24Cys Uncertain significance Single submitter
- GCKR p.Tyr307Asp Likely benign Single submitter
- GCKR p.Val180Glu Uncertain significance Single submitter
- GCKR p.Val333Phe Uncertain significance Single submitter
-
GCKR p.Val570Gly
Uncertain significance
No assertion criteria
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
All GCKR variants
Conflicting classifications of pathogenicity 10
- p.Ala519Thr Single submitter ⚠
- p.Arg51Ter Single submitter FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
- p.Glu586Ter Single submitter
- p.Glu77Gly Single submitter FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 ⚠
- p.His438Tyr Single submitter
- p.Leu446Pro Single submitter
- p.Pro383Thr Single submitter ⚠
- p.Ser183fs Single submitter
- p.Thr379fs Single submitter
- p.Val103Met Single submitter hypertriglyceridemia ⚠
Benign 20
- c.1241-27G>A Multiple submitters
- c.1422+94T>C Multiple submitters
- c.1423-22C>G Multiple submitters
- c.216+9_216+10del Multiple submitters
- c.217-44C>T Multiple submitters
- c.354+132C>G Multiple submitters
- c.429-38T>C Multiple submitters
- c.549+99G>A Multiple submitters
- c.869+74C>G Multiple submitters
- c.968+34G>A Multiple submitters
- c.*104G>A Multiple submitters
- c.1066+10dup Single submitter
- c.1422+258C>T Single submitter
- c.1708-190A>G Single submitter
- p.Arg51Gln Single submitter
- p.Glu63= Single submitter
- p.His158= Single submitter
- p.Leu274= Single submitter
- p.Leu501= Single submitter
- p.Ser527= Single submitter
Benign/Likely benign 4
- p.Arg540Gln Multiple submitters
- p.Ser118= Multiple submitters
- p.Thr405= Multiple submitters
- p.Thr82Ala Multiple submitters
Likely benign 68
- c.1144-153C>T Multiple submitters
- p.Gln234Pro Multiple submitters ⚠
- p.His590Tyr Multiple submitters
- p.Leu538= Multiple submitters
- c.1066+11A>G Single submitter
- c.1066+14C>T Single submitter
- c.1067-28C>T Single submitter
- c.1143+16G>A Single submitter
- c.1144-16TCT[2] Single submitter
- c.1241-19T>C Single submitter
- c.1338+15G>A Single submitter
- c.1338+21_1338+24del Single submitter
- c.1423-11G>T Single submitter
- c.1423-18T>C Single submitter
- c.1423-19A>G Single submitter
- c.1572+6G>A Single submitter
- c.1707+16C>T Single submitter
- c.1708-128T>C Single submitter
- c.216+16G>T Single submitter
- c.216+8A>G Single submitter
- c.217-4A>G Single submitter
- c.217-67C>G Single submitter
- c.217-8C>T Single submitter
- c.286-6C>T Single submitter
- c.354+16T>A Single submitter
- c.428+19T>C Single submitter
- c.428+6C>T Single submitter
- c.549+18T>C Single submitter
- c.549+203_549+204del Single submitter
- c.644+148A>G Single submitter
- c.751-9C>T Single submitter
- c.869+109G>A Single submitter
- c.870-155C>T Single submitter
- c.969-13G>A Single submitter
- c.-9C>T Single submitter
- p.Ala168= Single submitter
- p.Ala519= Single submitter
- p.Ala574= Single submitter
- p.Ala614= Single submitter
- p.Arg227Gln Single submitter
- p.Arg553= Single submitter
- p.Asn380= Single submitter
- p.Asp57= Single submitter
- p.Gln304= Single submitter
- p.Glu586= Single submitter
- p.Gly207= Single submitter
- p.Gly3= Single submitter
- p.His9= Single submitter
- p.Ile249= Single submitter
- p.Leu245= Single submitter
- p.Leu617= Single submitter
- p.Lys18= Single submitter
- p.Lys241= Single submitter
- p.Lys261= Single submitter
- p.Lys318= Single submitter
- p.Met505fs Single submitter
- p.Pro14= Single submitter
- p.Pro251= Single submitter
- p.Ser258= Single submitter
- p.Ser583= Single submitter
- p.Ser76Arg Single submitter
- p.Thr31= Single submitter
- p.Thr386= Single submitter
- p.Thr401= Single submitter
- p.Thr417= Single submitter
- p.Tyr307Asp Single submitter ⚠
- c.285+8C>A No assertion criteria GCKR-related disorder
- c.870-4C>T No assertion criteria GCKR-related disorder
Uncertain significance 182
- p.Ala302Thr Multiple submitters ⚠
- p.Ala58Thr Multiple submitters ⚠
- p.Arg112Gln Multiple submitters
- p.Arg227Ter Multiple submitters
- p.Arg478His Multiple submitters FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 ⚠
- p.Arg540Ter Multiple submitters FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
- p.Arg581Trp Multiple submitters ⚠
- p.Arg6_Phe7dup Multiple submitters FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
- p.Arg6Gln Multiple submitters ⚠
- p.Asn246Ile Multiple submitters ⚠
- p.Asn503Ser Multiple submitters ⚠
- p.Gln529Ter Multiple submitters
- p.Gln610Ter Multiple submitters
- p.Glu25Lys Multiple submitters ⚠
- p.Glu536Lys Multiple submitters ⚠
- p.Glu77Lys Multiple submitters ⚠
- p.Gly107Val Multiple submitters
- p.Gly354Val Multiple submitters ⚠
- p.His278Asp Multiple submitters ⚠
- p.Ile219Thr Multiple submitters ⚠
- p.Met83Thr Multiple submitters
- p.Phe526Val Multiple submitters ⚠
- p.Pro247Leu Multiple submitters FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 ⚠
- p.Ser183Phe Multiple submitters FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 ⚠
- p.Trp517Ter Multiple submitters FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
- p.Val187Leu Multiple submitters ⚠
- p.Val330Met Multiple submitters ⚠
- p.Val601Ile Multiple submitters ⚠
- c.1065_1066+7del Single submitter
- c.1066+1G>A Single submitter
- c.1066+4G>C Single submitter
- c.1143+3C>T Single submitter
- c.1143+4G>A Single submitter
- c.1144-1G>A Single submitter
- c.1339-2A>C Single submitter GCKR-related disorder
- c.1422+4T>C Single submitter
- c.285+1G>A Single submitter
- c.285+2T>G Single submitter
- c.354+1G>A Single submitter
- c.428+1dup Single submitter
- c.429-39_429-7delinsGGCTGGAAAG Single submitter
- c.495+2T>A Single submitter
- c.550-2A>G Single submitter
- c.645-14T>A Single submitter
- c.645-18del Single submitter
- c.750+4G>C Single submitter
- c.751-1G>A Single submitter
- c.969-19A>G Single submitter
- p.Ala277Ser Single submitter ⚠
- p.Ala587Ser Single submitter ⚠
- p.Ala589Thr Single submitter ⚠
- p.Arg112Trp Single submitter ⚠
- p.Arg215Ser Single submitter ⚠
- p.Arg232Gln Single submitter ⚠
- p.Arg259Gln Single submitter ⚠
- p.Arg259Trp Single submitter ⚠
- p.Arg290Ser Single submitter ⚠
- p.Arg297Gln Single submitter ⚠
- p.Arg297Trp Single submitter ⚠
- p.Arg358Ter Single submitter
- p.Arg518Gln Single submitter ⚠
- p.Arg518Trp Single submitter ⚠
- p.Arg525Trp Single submitter ⚠
- p.Arg553Trp Single submitter ⚠
- p.Arg6Trp Single submitter ⚠
- p.Asn512Asp Single submitter
- p.Asp221His Single submitter ⚠
- p.Asp282Val Single submitter ⚠
- p.Asp42Asn Single submitter
- p.Asp550Glu Single submitter ⚠
- p.Asp57Gly Single submitter ⚠
- p.Asp98Glu Single submitter ⚠
- p.Cys534Arg Single submitter ⚠
- p.Gln240Ter Single submitter
- p.Gln384Arg Single submitter ⚠
- p.Gln443Arg Single submitter ⚠
- p.Gln477His Single submitter ⚠
- p.Gln91Lys Single submitter ⚠
- p.Glu162Lys Single submitter ⚠
- p.Glu20Lys Single submitter
- p.Glu252Lys Single submitter ⚠
- p.Glu294Gln Single submitter ⚠
- p.Glu32Asp Single submitter ⚠
- p.Glu377Gly Single submitter ⚠
- p.Glu390Lys Single submitter ⚠
- p.Glu428Gly Single submitter ⚠
- p.Glu621Asp Single submitter ⚠
- p.Glu92Gly Single submitter ⚠
- p.Gly106Arg Single submitter FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 ⚠
- p.Gly141Arg Single submitter ⚠
- p.Gly141Ser Single submitter ⚠
- p.Gly159Arg Single submitter ⚠
- p.Gly169Arg Single submitter ⚠
- p.Gly17= Single submitter
- p.Gly177Asp Single submitter ⚠
- p.Gly17Asp Single submitter ⚠
- p.Gly189Asp Single submitter ⚠
- p.Gly250Arg Single submitter ⚠
- p.Gly253Cys Single submitter ⚠
- p.Gly256Ser Single submitter ⚠
- p.Gly262Val Single submitter ⚠
- p.Gly334Asp Single submitter ⚠
- p.Gly354Arg Single submitter ⚠
- p.Gly99Trp Single submitter ⚠
- p.His278Pro Single submitter
- p.His432Tyr Single submitter ⚠
- p.His494Arg Single submitter
- p.His504Arg Single submitter ⚠
- p.Ile30= Single submitter
- p.Ile313fs Single submitter
- p.Ile409Val Single submitter ⚠
- p.Ile457Val Single submitter ⚠
- p.Ile49Thr Single submitter ⚠
- p.Leu116Phe Single submitter ⚠
- p.Leu116Val Single submitter ⚠
- p.Leu254Phe Single submitter
- p.Leu292Phe Single submitter ⚠
- p.Leu296Trp Single submitter
- p.Leu416Val Single submitter ⚠
- p.Leu452Phe Single submitter ⚠
- p.Leu480Gln Single submitter ⚠
- p.Leu496Phe Single submitter ⚠
- p.Leu52Gln Single submitter ⚠
- p.Leu539Pro Single submitter ⚠
- p.Leu591Val Single submitter ⚠
- p.Leu617fs Single submitter
- p.Leu80Pro Single submitter ⚠
- p.Lys165del Single submitter
- p.Lys312Glu Single submitter ⚠
- p.Lys33Arg Single submitter ⚠
- p.Lys43Glu Single submitter ⚠
- p.Lys451Asn Single submitter ⚠
- p.Lys5Arg Single submitter ⚠
- p.Lys89Gln Single submitter ⚠
- p.Met195Leu Single submitter ⚠
- p.Met195Lys Single submitter
- p.Met195Val Single submitter ⚠
- p.Met213Val Single submitter ⚠
- p.Met317Ile Single submitter ⚠
- p.Met317Lys Single submitter ⚠
- p.Met522Val Single submitter ⚠
- p.Phe387Ser Single submitter ⚠
- p.Phe465Ser Single submitter ⚠
- p.Pro132Ala Single submitter ⚠
- p.Pro132Leu Single submitter ⚠
- p.Pro185fs Single submitter
- p.Pro210Gln Single submitter
- p.Pro547Thr Single submitter ⚠
- p.Pro608Leu Single submitter ⚠
- p.Pro608Ser Single submitter ⚠
- p.Pro622Ser Single submitter ⚠
- p.Pro97Leu Single submitter ⚠
- p.Ser118Leu Single submitter ⚠
- p.Ser264Ile Single submitter ⚠
- p.Ser319Cys Single submitter ⚠
- p.Ser369Gly Single submitter ⚠
- p.Ser395Cys Single submitter ⚠
- p.Ser490Asn Single submitter ⚠
- p.Ser513Phe Single submitter
- p.Ser583Leu Single submitter ⚠
- p.Ser603Asn Single submitter ⚠
- p.Thr198Ser Single submitter ⚠
- p.Thr298Ile Single submitter ⚠
- p.Thr401Met Single submitter ⚠
- p.Thr482Ala Single submitter ⚠
- p.Trp517Cys Single submitter
- p.Tyr24Cys Single submitter ⚠
- p.Tyr24fs Single submitter
- p.Val175Gly Single submitter ⚠
- p.Val180Glu Single submitter ⚠
- p.Val204Ile Single submitter ⚠
- p.Val305Leu Single submitter
- p.Val333Leu Single submitter ⚠
- p.Val333Phe Single submitter ⚠
- p.Val426= Single submitter
- p.Val441Met Single submitter ⚠
- p.Val485Leu Single submitter ⚠
- p.Val489Leu Single submitter ⚠
- p.Val489Met Single submitter ⚠
- p.Val84Ala Single submitter ⚠
- p.Ile456= No assertion criteria
- p.Val570Gly No assertion criteria FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 ⚠