ClinVar for MedGen (Select 1801754) - ClinVar

Links from MedGen

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502278	NM_002591.4(PCK1):c.574T>C (p.Cys192Arg)	PCK1 (C192R)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GPathogenic
Select item 1600211	NM_002591.4(PCK1):c.611-16G>A	PCK1	Single nucleotide variant (intron variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign/Likely benign
Select item 1474811	NM_002591.4(PCK1):c.1268C>T (p.Pro423Leu)	PCK1 (P423L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234699	NM_002591.4(PCK1):c.611-44G>C	PCK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 931905	NM_002591.4(PCK1):c.961+1G>A	PCK1	Single nucleotide variant (splice donor variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GLikely pathogenic
Select item 898849	NM_002591.4(PCK1):c.1553G>A (p.Arg518Gln)	PCK1 (R518Q)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 898848	NM_002591.4(PCK1):c.1320T>C (p.Gly440=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 898847	NM_002591.4(PCK1):c.1211C>T (p.Ser404Leu)	PCK1 (S404L)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 898783	NM_002591.4(PCK1):c.521C>T (p.Thr174Met)	PCK1 (T174M)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GUncertain significance
Select item 898782	NM_002591.4(PCK1):c.474C>T (p.Ile158=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 897763	NM_002591.4(PCK1):c.*608A>C	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 897687	NM_002591.4(PCK1):c.955G>A (p.Ala319Thr)	PCK1 (A319T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 897622	NM_002591.4(PCK1):c.414C>A (p.Thr138=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 897621	NM_002591.4(PCK1):c.407-11G>A	PCK1	Single nucleotide variant (intron variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 896163	NM_002591.4(PCK1):c.*408T>G	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GLikely benign
Select item 896162	NM_002591.4(PCK1):c.*392T>C	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 896161	NM_002591.4(PCK1):c.*363G>A	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 896160	NM_002591.4(PCK1):c.*357A>G	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 896101	NM_002591.4(PCK1):c.904G>A (p.Gly302Arg)	PCK1 (G302R)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 896100	NM_002591.4(PCK1):c.903C>T (p.Pro301=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 896099	NM_002591.4(PCK1):c.831G>A (p.Lys277=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 896030	NM_002591.4(PCK1):c.64A>G (p.Ser22Gly)	PCK1 (S22G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 896029	NM_002591.4(PCK1):c.-3G>A	PCK1	Single nucleotide variant (5 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 896028	NM_002591.4(PCK1):c.-40-12T>C	PCK1	Single nucleotide variant (intron variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 896027	NM_002591.4(PCK1):c.-40-14G>A	PCK1	Single nucleotide variant (intron variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 895886	NM_002591.4(PCK1):c.1688C>T (p.Ala563Val)	PCK1 (A563V)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 895818	NM_002591.4(PCK1):c.747G>A (p.Arg249=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 895817	NM_002591.4(PCK1):c.733T>G (p.Cys245Gly)	PCK1 (C245G)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 895816	NM_002591.4(PCK1):c.716C>T (p.Ser239Leu)	PCK1 (S239L)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 895815	NM_002591.4(PCK1):c.651G>A (p.Thr217=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 895814	NM_002591.4(PCK1):c.577C>T (p.Leu193Phe)	PCK1 (L193F)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +2 more	GUncertain significance
Select item 807457	NM_002591.4(PCK1):c.724G>A (p.Gly242Arg)	PCK1 (G242R)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 789357	NM_002591.4(PCK1):c.413C>T (p.Thr138Ile)	PCK1 (T138I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 788182	NM_002591.4(PCK1):c.7C>T (p.Pro3Ser)	PCK1 (P3S)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 787495	NM_002591.4(PCK1):c.843G>A (p.Ala281=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign/Likely benign
Select item 779639	NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln)	PCK1 (R483Q)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 777600	NM_002591.4(PCK1):c.12G>A (p.Gln4=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 743838	NM_002591.4(PCK1):c.858C>T (p.Ser286=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 717118	NM_002591.4(PCK1):c.864C>T (p.Cys288=)	PCK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 707924	NM_002591.4(PCK1):c.1152G>A (p.Thr384=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 632377	NM_002591.4(PCK1):c.824del (p.Gly275fs)	PCK1 (G275fs)	Deletion (frameshift variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 440852	PCK1, 12-BP DEL, NT369	PCK1	Deletion	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GPathogenic
Select item 440851	NM_002591.4(PCK1):c.134T>C (p.Ile45Thr)	PCK1 (I45T)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 338917	NM_002591.4(PCK1):c.*528C>G	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 338916	NM_002591.4(PCK1):c.*431T>C	PCK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 338915	NM_002591.4(PCK1):c.*365G>A	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 338914	NM_002591.4(PCK1):c.*361G>A	PCK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 338913	NM_002591.4(PCK1):c.*359G>A	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GBenign
Select item 338900	NM_002591.4(PCK1):c.*249G>T	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 338899	NM_002591.4(PCK1):c.*202G>A	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 338898	NM_002591.4(PCK1):c.*120T>G	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 338897	NM_002591.4(PCK1):c.*92C>T	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 338896	NM_002591.4(PCK1):c.*51G>C	PCK1	Single nucleotide variant (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GLikely benign
Select item 338895	NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg)	PCK1 (S579R)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign/Likely benign
Select item 338894	NM_002591.4(PCK1):c.1674C>T (p.Ile558=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign/Likely benign
Select item 338893	NM_002591.4(PCK1):c.1658C>T (p.Thr553Met)	PCK1 (T553M)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 338892	NM_002591.4(PCK1):c.1644C>G (p.Ala548=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 338891	NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr)	PCK1 (A548T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338890	NM_002591.4(PCK1):c.1207A>G (p.Asn403Asp)	PCK1 (N403D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 338889	NM_002591.4(PCK1):c.1140T>C (p.Gly380=)	PCK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 338888	NM_002591.4(PCK1):c.1102G>A (p.Val368Ile)	PCK1 (V368I)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 338887	NM_002591.4(PCK1):c.954C>T (p.Asp318=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 338886	NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)	PCK1 (G309R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338885	NM_002591.4(PCK1):c.898C>T (p.Leu300Phe)	PCK1 (L300F)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GUncertain significance
Select item 338884	NM_002591.4(PCK1):c.873C>T (p.Thr291=)	PCK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 338883	NM_002591.4(PCK1):c.826G>A (p.Glu276Lys)	PCK1 (E276K)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 338882	NM_002591.4(PCK1):c.799A>G (p.Ile267Val)	PCK1 (I267V)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 338881	NM_002591.4(PCK1):c.705C>T (p.Tyr235=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 338880	NM_002591.4(PCK1):c.556G>A (p.Asp186Asn)	PCK1 (D186N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 338879	NM_002591.4(PCK1):c.550G>C (p.Val184Leu)	PCK1 (V184L)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 338878	NM_002591.4(PCK1):c.538G>A (p.Val180Ile)	PCK1 (V180I)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +2 more	GUncertain significance
Select item 338877	NM_002591.4(PCK1):c.489A>G (p.Ser163=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 338876	NM_002591.4(PCK1):c.462A>G (p.Ser154=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 338875	NM_002591.4(PCK1):c.453G>A (p.Ser151=)	PCK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 338874	NM_002591.4(PCK1):c.282C>T (p.Ile94=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 338872	NM_002591.4(PCK1):c.203G>T (p.Arg68Leu)	PCK1 (R68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 338871	NM_002591.4(PCK1):c.179T>C (p.Met60Thr)	PCK1 (M60T)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GLikely benign
Select item 338870	NM_002591.4(PCK1):c.141C>T (p.Asp47=)	PCK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338869	NM_002591.4(PCK1):c.102C>T (p.Asn34=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 338868	NM_002591.4(PCK1):c.69A>G (p.Leu23=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 338867	NM_002591.4(PCK1):c.-54C>T	PCK1	Single nucleotide variant (5 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 338866	NM_002591.4(PCK1):c.-64C>T	PCK1	Single nucleotide variant (5 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 81729	NM_002591.4(PCK1):c.1537C>T (p.His513Tyr)	PCK1 (H513Y)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance

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Items: 83