PCK2 — 323 ClinVar variants
All ClinVar germline PCK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 179 flagged for review →
3 Likely pathogenic · 9 Conflicting · 11 Benign · 7 Benign/Likely benign · 78 Likely benign · 215 Uncertain significance
Full PCK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 179
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.
- PCK2 p.Arg142Gln Conflicting Single submitter
-
PCK2 p.Gly586Ser
Conflicting
Single submitter
phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- PCK2 p.Ile268Val Conflicting Single submitter
Predictors lean, ClinVar uncertain 132
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PCK2 p.Ala301Thr Uncertain significance Multiple submitters
- PCK2 p.Arg128His Uncertain significance Multiple submitters
- PCK2 p.Arg267Cys Uncertain significance Multiple submitters
- PCK2 p.Arg271Gln Uncertain significance Multiple submitters
- PCK2 p.Arg31Gln Uncertain significance Multiple submitters
- PCK2 p.Arg454Cys Uncertain significance Multiple submitters
- PCK2 p.Arg501Gln Uncertain significance Multiple submitters
- PCK2 p.Arg501Trp Uncertain significance Multiple submitters
- PCK2 p.Arg528His Uncertain significance Multiple submitters
- PCK2 p.Arg53Ser Uncertain significance Multiple submitters
- PCK2 p.Arg560Gln Uncertain significance Multiple submitters
- PCK2 p.Arg84Gln Uncertain significance Multiple submitters
-
PCK2 p.Arg96His
Uncertain significance
Multiple submitters
phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- PCK2 p.Asp496Asn Uncertain significance Multiple submitters
- PCK2 p.Glu539Gly Uncertain significance Multiple submitters
- PCK2 p.Gly215Asp Uncertain significance Multiple submitters
- PCK2 p.Gly549Ala Uncertain significance Multiple submitters
- PCK2 p.Ile330Thr Uncertain significance Multiple submitters
- PCK2 p.Ile391Thr Uncertain significance Multiple submitters
- PCK2 p.Ile590Val Uncertain significance Multiple submitters
- PCK2 p.Leu4Phe Uncertain significance Multiple submitters
- PCK2 p.Leu516Met Uncertain significance Multiple submitters
- PCK2 p.Leu582Ser Uncertain significance Multiple submitters
- PCK2 p.Ser612Arg Uncertain significance Multiple submitters
- PCK2 p.Thr360Ile Uncertain significance Multiple submitters
- PCK2 p.Thr483Ala Uncertain significance Multiple submitters
- PCK2 p.Thr66Ser Uncertain significance Multiple submitters
- PCK2 p.Val472Met Uncertain significance Multiple submitters
- PCK2 p.Val474Ala Uncertain significance Multiple submitters
- PCK2 p.Ala269Thr Uncertain significance Single submitter
- PCK2 p.Ala269Val Uncertain significance Single submitter
- PCK2 p.Ala299Val Uncertain significance Single submitter
- PCK2 p.Ala317Thr Uncertain significance Single submitter
- PCK2 p.Ala365Thr Uncertain significance Single submitter
- PCK2 p.Ala365Val Uncertain significance Single submitter
- PCK2 p.Ala3Thr Uncertain significance Single submitter
- PCK2 p.Ala426Val Uncertain significance Single submitter
- PCK2 p.Ala437Ser Uncertain significance Single submitter
- PCK2 p.Ala477Thr Uncertain significance Single submitter
- PCK2 p.Ala477Val Uncertain significance Single submitter
- PCK2 p.Ala568Gly Uncertain significance Single submitter
- PCK2 p.Ala589Thr Uncertain significance Single submitter
- PCK2 p.Ala95Val Uncertain significance Single submitter
- PCK2 p.Arg10Gln Uncertain significance Single submitter
- PCK2 p.Arg117Gln Uncertain significance Single submitter
- PCK2 p.Arg173His Uncertain significance Single submitter
- PCK2 p.Arg244Gln Uncertain significance Single submitter
- PCK2 p.Arg267Gly Uncertain significance Single submitter
- PCK2 p.Arg271Trp Uncertain significance Single submitter
- PCK2 p.Arg274Gln Uncertain significance Single submitter
- PCK2 p.Arg296His Uncertain significance Single submitter
- PCK2 p.Arg315Gln Uncertain significance Single submitter
- PCK2 p.Arg423Gln Uncertain significance Single submitter
- PCK2 p.Arg423Gly Uncertain significance Single submitter
- PCK2 p.Arg429Leu Uncertain significance Single submitter
- PCK2 p.Arg469His Uncertain significance Single submitter
- PCK2 p.Arg521Cys Uncertain significance Single submitter
- PCK2 p.Arg536Gln Uncertain significance Single submitter
- PCK2 p.Arg537Cys Uncertain significance Single submitter
- PCK2 p.Arg537His Uncertain significance Single submitter
- PCK2 p.Arg553Gln Uncertain significance Single submitter
- PCK2 p.Arg553Trp Uncertain significance Single submitter
- PCK2 p.Arg561Trp Uncertain significance Single submitter
- PCK2 p.Arg608His Uncertain significance Single submitter
- PCK2 p.Arg96Leu Uncertain significance Single submitter
- PCK2 p.Asn90Ser Uncertain significance Single submitter
- PCK2 p.Asp336Glu Uncertain significance Single submitter
- PCK2 p.Asp36Asn Uncertain significance Single submitter
- PCK2 p.Cys24Tyr Uncertain significance Single submitter
- PCK2 p.Cys417Tyr Uncertain significance Single submitter
- PCK2 p.Cys559Phe Uncertain significance Single submitter
- PCK2 p.Gln80His Uncertain significance Single submitter
- PCK2 p.Glu245Ala Uncertain significance Single submitter
- PCK2 p.Glu579Val Uncertain significance Single submitter
- PCK2 p.Glu616Gln Uncertain significance Single submitter
- PCK2 p.Glu78Gln Uncertain significance Single submitter
- PCK2 p.Glu78Val Uncertain significance Single submitter
- PCK2 p.Gly126Glu Uncertain significance Single submitter
- PCK2 p.Gly165Asp Uncertain significance Single submitter
- PCK2 p.Gly175Arg Uncertain significance Single submitter
- PCK2 p.Gly220Glu Uncertain significance Single submitter
- PCK2 p.Gly222Arg Uncertain significance Single submitter
- PCK2 p.Gly250Arg Uncertain significance Single submitter
- PCK2 p.Gly250Cys Uncertain significance Single submitter
- PCK2 p.Gly255Asp Uncertain significance Single submitter
- PCK2 p.Gly260Asp Uncertain significance Single submitter
- PCK2 p.Gly307Ser Uncertain significance Single submitter
- PCK2 p.Gly349Ser Uncertain significance Single submitter
- PCK2 p.Gly352Arg Uncertain significance Single submitter
- PCK2 p.Gly384Asp Uncertain significance Single submitter
- PCK2 p.Gly390Arg Uncertain significance Single submitter
- PCK2 p.Gly509Arg Uncertain significance Single submitter
- PCK2 p.Gly523Arg Uncertain significance Single submitter
- PCK2 p.His419Tyr Uncertain significance Single submitter
- PCK2 p.His510Gln Uncertain significance Single submitter
- PCK2 p.Ile174Phe Uncertain significance Single submitter
- PCK2 p.Ile190Val Uncertain significance Single submitter
- PCK2 p.Ile374Thr Uncertain significance Single submitter
- PCK2 p.Ile558Thr Uncertain significance Single submitter
- PCK2 p.Ile590Thr Uncertain significance Single submitter
- PCK2 p.Ile60Thr Uncertain significance Single submitter
- PCK2 p.Leu160Phe Uncertain significance Single submitter
- PCK2 p.Leu4Trp Uncertain significance Single submitter
- PCK2 p.Leu526Met Uncertain significance Single submitter
- PCK2 p.Leu598Ile Uncertain significance Single submitter
- PCK2 p.Leu598Phe Uncertain significance Single submitter
- PCK2 p.Lys261Gln Uncertain significance Single submitter
- PCK2 p.Lys600Arg Uncertain significance Single submitter
- PCK2 p.Lys639Arg Uncertain significance Single submitter
- PCK2 p.Met164Thr Uncertain significance Single submitter
- PCK2 p.Met283Thr Uncertain significance Single submitter
- PCK2 p.Met434Val Uncertain significance Single submitter
- PCK2 p.Met500Val Uncertain significance Single submitter
- PCK2 p.Phe351Tyr Uncertain significance Single submitter
- PCK2 p.Pro197Ser Uncertain significance Single submitter
- PCK2 p.Pro316Arg Uncertain significance Single submitter
- PCK2 p.Pro87Arg Uncertain significance Single submitter
- PCK2 p.Ser371Asn Uncertain significance Single submitter
- PCK2 p.Ser480Pro Uncertain significance Single submitter
- PCK2 p.Ser567Gly Uncertain significance Single submitter
- PCK2 p.Ser612Asn Uncertain significance Single submitter
- PCK2 p.Thr109Met Uncertain significance Single submitter
- PCK2 p.Thr196Ser Uncertain significance Single submitter
- PCK2 p.Thr361Ile Uncertain significance Single submitter
- PCK2 p.Thr368Ile Uncertain significance Single submitter
- PCK2 p.Thr615Lys Uncertain significance Single submitter
- PCK2 p.Trp228Cys Uncertain significance Single submitter
- PCK2 p.Val225Gly Uncertain significance Single submitter
- PCK2 p.Val240Met Uncertain significance Single submitter
- PCK2 p.Val626Leu Uncertain significance Single submitter
- PCK2 p.Cys151Trp Uncertain significance No assertion criteria
-
PCK2 p.Cys306Tyr
Uncertain significance
No assertion criteria
PCK2-related disorder
Predictors split 44
The independent predictors disagree with each other — read with care.
- PCK2 p.Ala448Thr Uncertain significance Multiple submitters
- PCK2 p.Ala581Thr Benign/Likely benign Multiple submitters
- PCK2 p.Arg189Cys Uncertain significance Multiple submitters
- PCK2 p.Arg25Cys Uncertain significance Multiple submitters
-
PCK2 p.Arg274Trp
Uncertain significance
Multiple submitters
phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- PCK2 p.Arg296Cys Uncertain significance Multiple submitters
-
PCK2 p.Arg342Gln
Uncertain significance
Multiple submitters
PCK2-related disorder
-
PCK2 p.Arg53Cys
Uncertain significance
Multiple submitters
phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- PCK2 p.Arg561Gln Benign Multiple submitters
- PCK2 p.Arg611Trp Uncertain significance Multiple submitters
- PCK2 p.Glu629Lys Likely benign Multiple submitters
- PCK2 p.Gly406Ser Benign Multiple submitters
- PCK2 p.Pro572Leu Uncertain significance Multiple submitters
- PCK2 p.Val32Met Uncertain significance Multiple submitters
- PCK2 p.Ala477Pro Uncertain significance Single submitter
- PCK2 p.Ala486Val Uncertain significance Single submitter
- PCK2 p.Ala581Val Uncertain significance Single submitter
- PCK2 p.Arg189Gly Uncertain significance Single submitter
- PCK2 p.Arg25His Uncertain significance Single submitter
- PCK2 p.Arg25Pro Uncertain significance Single submitter
- PCK2 p.Arg340Gln Uncertain significance Single submitter
- PCK2 p.Arg342Trp Likely benign Single submitter
-
PCK2 p.Arg469Cys
Conflicting
Single submitter
phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- PCK2 p.Arg479Cys Uncertain significance Single submitter
- PCK2 p.Arg560Trp Uncertain significance Single submitter
- PCK2 p.Arg96Cys Uncertain significance Single submitter
- PCK2 p.Asn467Lys Uncertain significance Single submitter
- PCK2 p.Asp538Asn Uncertain significance Single submitter
- PCK2 p.Asp621Asn Uncertain significance Single submitter
- PCK2 p.Cys63Gly Uncertain significance Single submitter
- PCK2 p.Glu539Lys Uncertain significance Single submitter
- PCK2 p.Glu78Asp Uncertain significance Single submitter
- PCK2 p.Gly564Arg Uncertain significance Single submitter
- PCK2 p.Met314Thr Uncertain significance Single submitter
- PCK2 p.Met494Ile Uncertain significance Single submitter
- PCK2 p.Pro170Leu Uncertain significance Single submitter
- PCK2 p.Pro197Leu Uncertain significance Single submitter
- PCK2 p.Pro416Leu Uncertain significance Single submitter
- PCK2 p.Pro41Ser Uncertain significance Single submitter
- PCK2 p.Pro441Leu Likely benign Single submitter
- PCK2 p.Pro599Ser Likely benign Single submitter
- PCK2 p.Val112Leu Uncertain significance Single submitter
- PCK2 p.Val176Met Uncertain significance Single submitter
- PCK2 p.Val298Met Uncertain significance Single submitter
All PCK2 variants
Likely pathogenic 3
- p.Leu218fs Single submitter phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- p.Gly154fs No assertion criteria
- p.Met152fs No assertion criteria
Conflicting classifications of pathogenicity 9
- c.1234+1G>T Single submitter phosphoenolpyruvate carboxykinase deficiency
- c.1468+2T>C Single submitter phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- p.Arg142Gln Single submitter ⚠
- p.Arg193Ter Single submitter phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- p.Arg340Ter Single submitter phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- p.Arg469Cys Single submitter phosphoenolpyruvate carboxykinase deficiency, mitochondrial ⚠
- p.Gly586Ser Single submitter phosphoenolpyruvate carboxykinase deficiency, mitochondrial ⚠
- p.Ile268Val Single submitter ⚠
- p.Ser23Ter Single submitter phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Benign 11
- c.1469-3dup Multiple submitters phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- p.Ala2= Multiple submitters
- p.Arg561Gln Multiple submitters ⚠
- p.Gly406Ser Multiple submitters ⚠
- p.Lys410= Multiple submitters
- p.Pro124= Multiple submitters
- c.1469-3C>A Single submitter
- c.461-20G>A Single submitter
- p.Ala365= Single submitter
- p.Arg244Trp Single submitter
- p.Gly385= Single submitter
Benign/Likely benign 7
- c.1469-10T>C Multiple submitters
- p.Ala581Thr Multiple submitters ⚠
- p.Arg521His Multiple submitters
- p.Asp64Asn Multiple submitters
- p.Lys295= Multiple submitters
- p.Phe249= Multiple submitters
- p.Pro121= Multiple submitters
Likely benign 78
- p.Arg315= Multiple submitters
- p.Glu629Lys Multiple submitters ⚠
- p.His50= Multiple submitters
- p.Pro170= Multiple submitters
- c.1016-8_1016-6del Single submitter
- c.1234+14G>A Single submitter
- c.1234+54G>A Single submitter
- c.1234+8C>T Single submitter
- c.1234+9G>A Single submitter
- c.1235-10C>T Single submitter
- c.1235-17T>C Single submitter
- c.1372+11T>C Single submitter
- c.1372+16G>C Single submitter
- c.1373-12T>C Single submitter
- c.1468+12C>T Single submitter
- c.1469-16C>G Single submitter
- c.1469-4C>G Single submitter
- c.1469-6C>G Single submitter
- c.275+15C>G Single submitter
- c.276-16A>G Single submitter
- c.29+11C>A Single submitter
- c.30-13G>A Single submitter
- c.30-20T>C Single submitter
- c.461-8C>T Single submitter
- c.664+16G>A Single submitter
- c.664+9C>G Single submitter
- c.665-19A>G Single submitter
- c.853-16T>G Single submitter
- c.853-20C>T Single submitter
- p.Ala280= Single submitter
- p.Ala300= Single submitter
- p.Ala305= Single submitter
- p.Ala477= Single submitter
- p.Ala632= Single submitter
- p.Arg296= Single submitter
- p.Arg342Trp Single submitter ⚠
- p.Arg6= Single submitter
- p.Asn256= Single submitter
- p.Asn348= Single submitter
- p.Asn364= Single submitter
- p.Asp275= Single submitter
- p.Asp538= Single submitter
- p.Cys92= Single submitter
- p.Gly250Ser Single submitter
- p.Gly254= Single submitter
- p.Gly327= Single submitter
- p.Gly390= Single submitter
- p.His239= Single submitter
- p.His495= Single submitter
- p.Ile111= Single submitter
- p.Ile529= Single submitter
- p.Leu236= Single submitter
- p.Leu266= Single submitter
- p.Leu4= Single submitter
- p.Leu54= Single submitter
- p.Leu614= Single submitter
- p.Leu77= Single submitter
- p.Lys294= Single submitter
- p.Phe508= Single submitter
- p.Pro123Leu Single submitter
- p.Pro441Leu Single submitter ⚠
- p.Pro599Ser Single submitter ⚠
- p.Ser257= Single submitter
- p.Ser270= Single submitter
- p.Ser476= Single submitter
- p.Ser597= Single submitter
- p.Thr109= Single submitter
- p.Thr73Ile Single submitter
- p.Tyr183= Single submitter
- p.Val576= Single submitter
- c.1234+26A>T No assertion criteria PCK2-related disorder
- c.1234+52T>C No assertion criteria PCK2-related disorder
- c.1234+99C>G No assertion criteria PCK2-related disorder
- c.460+3_460+4inv No assertion criteria
- p.Gly541= No assertion criteria PCK2-related disorder
- p.Ile493= No assertion criteria
- p.Pro161= No assertion criteria PCK2-related disorder
- p.Ser251= No assertion criteria PCK2-related disorder
Uncertain significance 215
- c.1469-1G>A Multiple submitters
- p.Ala301Thr Multiple submitters ⚠
- p.Ala448Thr Multiple submitters ⚠
- p.Arg104Ter Multiple submitters
- p.Arg128His Multiple submitters ⚠
- p.Arg142Ter Multiple submitters phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- p.Arg189Cys Multiple submitters ⚠
- p.Arg25Cys Multiple submitters ⚠
- p.Arg267Cys Multiple submitters ⚠
- p.Arg271Gln Multiple submitters ⚠
- p.Arg274Trp Multiple submitters phosphoenolpyruvate carboxykinase deficiency, mitochondrial ⚠
- p.Arg296Cys Multiple submitters ⚠
- p.Arg31Gln Multiple submitters ⚠
- p.Arg342Gln Multiple submitters PCK2-related disorder ⚠
- p.Arg454Cys Multiple submitters ⚠
- p.Arg479His Multiple submitters
- p.Arg501Gln Multiple submitters ⚠
- p.Arg501Trp Multiple submitters ⚠
- p.Arg528His Multiple submitters ⚠
- p.Arg53Cys Multiple submitters phosphoenolpyruvate carboxykinase deficiency, mitochondrial ⚠
- p.Arg53Ser Multiple submitters ⚠
- p.Arg560Gln Multiple submitters ⚠
- p.Arg611Trp Multiple submitters ⚠
- p.Arg636Cys Multiple submitters phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- p.Arg636His Multiple submitters phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- p.Arg84Gln Multiple submitters ⚠
- p.Arg96His Multiple submitters phosphoenolpyruvate carboxykinase deficiency, mitochondrial ⚠
- p.Asn91Lys Multiple submitters
- p.Asp496Asn Multiple submitters ⚠
- p.Glu539Gly Multiple submitters ⚠
- p.Gly215Asp Multiple submitters ⚠
- p.Gly549Ala Multiple submitters ⚠
- p.Ile330Thr Multiple submitters ⚠
- p.Ile391Thr Multiple submitters ⚠
- p.Ile590Val Multiple submitters ⚠
- p.Leu4Phe Multiple submitters ⚠
- p.Leu516Met Multiple submitters ⚠
- p.Leu582Ser Multiple submitters ⚠
- p.Met518Thr Multiple submitters
- p.Phe264fs Multiple submitters
- p.Pro572Leu Multiple submitters ⚠
- p.Ser612Arg Multiple submitters ⚠
- p.Thr360Ile Multiple submitters ⚠
- p.Thr483Ala Multiple submitters ⚠
- p.Thr66Ser Multiple submitters ⚠
- p.Val32Met Multiple submitters ⚠
- p.Val472Met Multiple submitters ⚠
- p.Val474Ala Multiple submitters ⚠
- c.1373-2A>T Single submitter
- c.1469-2A>T Single submitter
- c.1469-3C>G Single submitter
- c.1469-5C>G Single submitter
- c.275+1G>A Single submitter
- c.276-3C>G Single submitter
- p.Gly154fs Single submitter phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- c.461-2A>G Single submitter
- c.461-7T>G Single submitter
- c.664+1G>T Single submitter
- c.853-8A>G Single submitter
- p.Ala269Thr Single submitter ⚠
- p.Ala269Val Single submitter ⚠
- p.Ala280Ser Single submitter
- p.Ala299Val Single submitter ⚠
- p.Ala300Asn Single submitter
- p.Ala317Thr Single submitter ⚠
- p.Ala354Val Single submitter
- p.Ala365Thr Single submitter ⚠
- p.Ala365Val Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala426Val Single submitter ⚠
- p.Ala437Ser Single submitter ⚠
- p.Ala477Pro Single submitter ⚠
- p.Ala477Thr Single submitter ⚠
- p.Ala477Val Single submitter ⚠
- p.Ala486Val Single submitter ⚠
- p.Ala568Gly Single submitter ⚠
- p.Ala581Val Single submitter ⚠
- p.Ala589Thr Single submitter ⚠
- p.Ala95Val Single submitter ⚠
- p.Arg10Gln Single submitter ⚠
- p.Arg117Gln Single submitter ⚠
- p.Arg155Cys Single submitter
- p.Arg173His Single submitter ⚠
- p.Arg189Gly Single submitter ⚠
- p.Arg244Gln Single submitter ⚠
- p.Arg25His Single submitter ⚠
- p.Arg25Pro Single submitter ⚠
- p.Arg267Gly Single submitter ⚠
- p.Arg271Trp Single submitter ⚠
- p.Arg274Gln Single submitter ⚠
- p.Arg296His Single submitter ⚠
- p.Arg315Gln Single submitter ⚠
- p.Arg340Gln Single submitter ⚠
- p.Arg423Gln Single submitter ⚠
- p.Arg423Gly Single submitter ⚠
- p.Arg423Ter Single submitter
- p.Arg429Leu Single submitter ⚠
- p.Arg469His Single submitter ⚠
- p.Arg479Cys Single submitter ⚠
- p.Arg521Cys Single submitter ⚠
- p.Arg536Gln Single submitter ⚠
- p.Arg537Cys Single submitter ⚠
- p.Arg537His Single submitter ⚠
- p.Arg553Gln Single submitter ⚠
- p.Arg553Trp Single submitter ⚠
- p.Arg560Trp Single submitter ⚠
- p.Arg561Trp Single submitter ⚠
- p.Arg569Ter Single submitter
- p.Arg608His Single submitter ⚠
- p.Arg84Ter Single submitter
- p.Arg96Cys Single submitter ⚠
- p.Arg96Leu Single submitter ⚠
- p.Asn467Lys Single submitter ⚠
- p.Asn90Ser Single submitter ⚠
- p.Asp336Glu Single submitter ⚠
- p.Asp36Asn Single submitter ⚠
- p.Asp538Asn Single submitter ⚠
- p.Asp621Asn Single submitter ⚠
- p.Cys24Tyr Single submitter ⚠
- p.Cys417Tyr Single submitter ⚠
- p.Cys559Phe Single submitter ⚠
- p.Cys63Gly Single submitter ⚠
- p.Gln153fs Single submitter
- p.Gln177Ter Single submitter
- p.Gln605Ter Single submitter
- p.Gln80His Single submitter ⚠
- p.Glu245Ala Single submitter ⚠
- p.Glu324Val Single submitter
- p.Glu539Lys Single submitter ⚠
- p.Glu550Ter Single submitter
- p.Glu563fs Single submitter
- p.Glu579Val Single submitter ⚠
- p.Glu616Gln Single submitter ⚠
- p.Glu78Asp Single submitter ⚠
- p.Glu78Gln Single submitter ⚠
- p.Glu78Val Single submitter ⚠
- p.Gly126Glu Single submitter ⚠
- p.Gly165Asp Single submitter ⚠
- p.Gly175Arg Single submitter ⚠
- p.Gly220Glu Single submitter ⚠
- p.Gly222Arg Single submitter ⚠
- p.Gly250Arg Single submitter ⚠
- p.Gly250Cys Single submitter ⚠
- p.Gly255Asp Single submitter ⚠
- p.Gly260Asp Single submitter ⚠
- p.Gly307Ser Single submitter ⚠
- p.Gly349Ser Single submitter ⚠
- p.Gly352Arg Single submitter ⚠
- p.Gly384Asp Single submitter ⚠
- p.Gly390Arg Single submitter ⚠
- p.Gly509Arg Single submitter ⚠
- p.Gly523Arg Single submitter ⚠
- p.Gly564Arg Single submitter ⚠
- p.His419Tyr Single submitter ⚠
- p.His470Asn Single submitter
- p.His510Gln Single submitter ⚠
- p.Ile174Phe Single submitter ⚠
- p.Ile190Val Single submitter ⚠
- p.Ile237fs Single submitter
- p.Ile246fs Single submitter
- p.Ile374Thr Single submitter ⚠
- p.Ile558Thr Single submitter ⚠
- p.Ile590Thr Single submitter ⚠
- p.Ile60Thr Single submitter ⚠
- p.Leu160Phe Single submitter ⚠
- p.Leu236fs Single submitter
- p.Leu461fs Single submitter phosphoenolpyruvate carboxykinase deficiency
- p.Leu4Trp Single submitter ⚠
- p.Leu526Met Single submitter ⚠
- p.Leu598Ile Single submitter ⚠
- p.Leu598Phe Single submitter ⚠
- p.Lys100fs Single submitter
- p.Lys261Gln Single submitter ⚠
- p.Lys600Arg Single submitter ⚠
- p.Lys639Arg Single submitter ⚠
- p.Met164Thr Single submitter ⚠
- p.Met283Thr Single submitter ⚠
- p.Met314Thr Single submitter ⚠
- p.Met434Val Single submitter ⚠
- p.Met494Ile Single submitter ⚠
- p.Met500Val Single submitter ⚠
- p.Phe351Tyr Single submitter ⚠
- p.Pro170Leu Single submitter ⚠
- p.Pro197Leu Single submitter ⚠
- p.Pro197Ser Single submitter ⚠
- p.Pro232Ser Single submitter
- p.Pro316Arg Single submitter ⚠
- p.Pro363His Single submitter
- p.Pro416Leu Single submitter ⚠
- p.Pro41Ser Single submitter ⚠
- p.Pro427= Single submitter
- p.Pro87Arg Single submitter ⚠
- p.Ser181Ala Single submitter
- p.Ser226fs Single submitter
- p.Ser371Asn Single submitter ⚠
- p.Ser480Pro Single submitter ⚠
- p.Ser567Gly Single submitter ⚠
- p.Ser612Asn Single submitter ⚠
- p.Thr109Met Single submitter ⚠
- p.Thr196Ser Single submitter ⚠
- p.Thr361Ile Single submitter ⚠
- p.Thr368Ile Single submitter ⚠
- p.Thr571Ile Single submitter
- p.Thr615Lys Single submitter ⚠
- p.Trp228Cys Single submitter ⚠
- p.Val102fs Single submitter
- p.Val110Ala Single submitter
- p.Val112Leu Single submitter ⚠
- p.Val176Met Single submitter ⚠
- p.Val225Gly Single submitter ⚠
- p.Val240Met Single submitter ⚠
- p.Val298Met Single submitter ⚠
- p.Val626Leu Single submitter ⚠
- p.Cys151Trp No assertion criteria ⚠
- p.Cys306Tyr No assertion criteria PCK2-related disorder ⚠