ClinVar for MedGen (Select 1801754) - ClinVar

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Items: 83

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25022781.	NM_002591.4(PCK1):c.574T>C (p.Cys192Arg) GRCh37: Chr20:56137919 GRCh38: Chr20:57562863	PCK1	C192R	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Pathogenic	no assertion criteria provided
Select item 16002112.	NM_002591.4(PCK1):c.611-16G>A GRCh37: Chr20:56138068 GRCh38: Chr20:57563012	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14748113.	NM_002591.4(PCK1):c.1268C>T (p.Pro423Leu) GRCh37: Chr20:56139619 GRCh38: Chr20:57564563	PCK1	P423L	not provided	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 12346994.	NM_002591.4(PCK1):c.611-44G>C GRCh37: Chr20:56138040 GRCh38: Chr20:57562984	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9319055.	NM_002591.4(PCK1):c.961+1G>A GRCh37: Chr20:56138784 GRCh38: Chr20:57563728	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Likely pathogenic (Nov 19, 2018)	criteria provided, single submitter
Select item 8988496.	NM_002591.4(PCK1):c.1553G>A (p.Arg518Gln) GRCh37: Chr20:56140544 GRCh38: Chr20:57565488	PCK1	R518Q	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8988487.	NM_002591.4(PCK1):c.1320T>C (p.Gly440=) GRCh37: Chr20:56140097 GRCh38: Chr20:57565041	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8988478.	NM_002591.4(PCK1):c.1211C>T (p.Ser404Leu) GRCh37: Chr20:56139562 GRCh38: Chr20:57564506	PCK1	S404L	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8987839.	NM_002591.4(PCK1):c.521C>T (p.Thr174Met) GRCh37: Chr20:56137866 GRCh38: Chr20:57562810	PCK1	T174M	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89878210.	NM_002591.4(PCK1):c.474C>T (p.Ile158=) GRCh37: Chr20:56137819 GRCh38: Chr20:57562763	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (Nov 12, 2021)	criteria provided, conflicting interpretations
Select item 89776311.	NM_002591.4(PCK1):c.*608A>C GRCh37: Chr20:56141468 GRCh38: Chr20:57566412	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89768712.	NM_002591.4(PCK1):c.955G>A (p.Ala319Thr) GRCh37: Chr20:56138777 GRCh38: Chr20:57563721	PCK1	A319T	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89762213.	NM_002591.4(PCK1):c.414C>A (p.Thr138=) GRCh37: Chr20:56137759 GRCh38: Chr20:57562703	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 89762114.	NM_002591.4(PCK1):c.407-11G>A GRCh37: Chr20:56137741 GRCh38: Chr20:57562685	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89616315.	NM_002591.4(PCK1):c.*408T>G GRCh37: Chr20:56141268 GRCh38: Chr20:57566212	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89616216.	NM_002591.4(PCK1):c.*392T>C GRCh37: Chr20:56141252 GRCh38: Chr20:57566196	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89616117.	NM_002591.4(PCK1):c.*363G>A GRCh37: Chr20:56141223 GRCh38: Chr20:57566167	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89616018.	NM_002591.4(PCK1):c.*357A>G GRCh37: Chr20:56141217 GRCh38: Chr20:57566161	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89610119.	NM_002591.4(PCK1):c.904G>A (p.Gly302Arg) GRCh37: Chr20:56138726 GRCh38: Chr20:57563670	PCK1	G302R	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89610020.	NM_002591.4(PCK1):c.903C>T (p.Pro301=) GRCh37: Chr20:56138725 GRCh38: Chr20:57563669	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic, not provided	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 89609921.	NM_002591.4(PCK1):c.831G>A (p.Lys277=) GRCh37: Chr20:56138653 GRCh38: Chr20:57563597	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89603022.	NM_002591.4(PCK1):c.64A>G (p.Ser22Gly) GRCh37: Chr20:56136531 GRCh38: Chr20:57561475	PCK1	S22G	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, not provided	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89602923.	NM_002591.4(PCK1):c.-3G>A GRCh37: Chr20:56136465 GRCh38: Chr20:57561409	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89602824.	NM_002591.4(PCK1):c.-40-12T>C GRCh37: Chr20:56136416 GRCh38: Chr20:57561360	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89602725.	NM_002591.4(PCK1):c.-40-14G>A GRCh37: Chr20:56136414 GRCh38: Chr20:57561358	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89588626.	NM_002591.4(PCK1):c.1688C>T (p.Ala563Val) GRCh37: Chr20:56140679 GRCh38: Chr20:57565623	PCK1	A563V	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89581827.	NM_002591.4(PCK1):c.747G>A (p.Arg249=) GRCh37: Chr20:56138220 GRCh38: Chr20:57563164	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89581728.	NM_002591.4(PCK1):c.733T>G (p.Cys245Gly) GRCh37: Chr20:56138206 GRCh38: Chr20:57563150	PCK1	C245G	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89581629.	NM_002591.4(PCK1):c.716C>T (p.Ser239Leu) GRCh37: Chr20:56138189 GRCh38: Chr20:57563133	PCK1	S239L	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89581530.	NM_002591.4(PCK1):c.651G>A (p.Thr217=) GRCh37: Chr20:56138124 GRCh38: Chr20:57563068	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89581431.	NM_002591.4(PCK1):c.577C>T (p.Leu193Phe) GRCh37: Chr20:56137922 GRCh38: Chr20:57562866	PCK1	L193F	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, Inborn genetic diseases, not provided	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80745732.	NM_002591.4(PCK1):c.724G>A (p.Gly242Arg) GRCh37: Chr20:56138197 GRCh38: Chr20:57563141	PCK1	G242R	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, not provided	Conflicting interpretations of pathogenicity (Feb 24, 2022)	criteria provided, conflicting interpretations
Select item 78935733.	NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) GRCh37: Chr20:56137758 GRCh38: Chr20:57562702	PCK1	T138I	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 78818234.	NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) GRCh37: Chr20:56136474 GRCh38: Chr20:57561418	PCK1	P3S	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, not provided	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 78749535.	NM_002591.4(PCK1):c.843G>A (p.Ala281=) GRCh37: Chr20:56138665 GRCh38: Chr20:57563609	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77963936.	NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln) GRCh37: Chr20:56140439 GRCh38: Chr20:57565383	PCK1	R483Q	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 77760037.	NM_002591.4(PCK1):c.12G>A (p.Gln4=) GRCh37: Chr20:56136479 GRCh38: Chr20:57561423	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74383838.	NM_002591.4(PCK1):c.858C>T (p.Ser286=) GRCh37: Chr20:56138680 GRCh38: Chr20:57563624	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (Jun 28, 2018)	criteria provided, conflicting interpretations
Select item 71711839.	NM_002591.4(PCK1):c.864C>T (p.Cys288=) GRCh37: Chr20:56138686 GRCh38: Chr20:57563630	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70792440.	NM_002591.4(PCK1):c.1152G>A (p.Thr384=) GRCh37: Chr20:56139415 GRCh38: Chr20:57564359	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 63237741.	NM_002591.4(PCK1):c.824del (p.Gly275fs) GRCh37: Chr20:56138644 GRCh38: Chr20:57563588	PCK1	G275fs	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 44085242.	PCK1, 12-BP DEL, NT369	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Pathogenic (Apr 12, 2023)	no assertion criteria provided
Select item 44085143.	NM_002591.4(PCK1):c.134T>C (p.Ile45Thr) GRCh37: Chr20:56136601 GRCh38: Chr20:57561545	PCK1	I45T	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Sep 7, 2018)	criteria provided, single submitter
Select item 33891744.	NM_002591.4(PCK1):c.*528C>G GRCh37: Chr20:56141388 GRCh38: Chr20:57566332	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33891645.	NM_002591.4(PCK1):c.*431T>C GRCh37: Chr20:56141291 GRCh38: Chr20:57566235	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Mar 6, 2018)	criteria provided, single submitter
Select item 33891546.	NM_002591.4(PCK1):c.*365G>A GRCh37: Chr20:56141225 GRCh38: Chr20:57566169	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33891447.	NM_002591.4(PCK1):c.*361G>A GRCh37: Chr20:56141221 GRCh38: Chr20:57566165	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33891348.	NM_002591.4(PCK1):c.*359G>A GRCh37: Chr20:56141219 GRCh38: Chr20:57566163	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33890049.	NM_002591.4(PCK1):c.*249G>T GRCh37: Chr20:56141109 GRCh38: Chr20:57566053	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33889950.	NM_002591.4(PCK1):c.*202G>A GRCh37: Chr20:56141062 GRCh38: Chr20:57566006	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33889851.	NM_002591.4(PCK1):c.*120T>G GRCh37: Chr20:56140980 GRCh38: Chr20:57565924	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33889752.	NM_002591.4(PCK1):c.*92C>T GRCh37: Chr20:56140952 GRCh38: Chr20:57565896	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33889653.	NM_002591.4(PCK1):c.*51G>C GRCh37: Chr20:56140911 GRCh38: Chr20:57565855	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33889554.	NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg) GRCh37: Chr20:56140726 GRCh38: Chr20:57565670	PCK1	S579R	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign/Likely benign (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33889455.	NM_002591.4(PCK1):c.1674C>T (p.Ile558=) GRCh37: Chr20:56140665 GRCh38: Chr20:57565609	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33889356.	NM_002591.4(PCK1):c.1658C>T (p.Thr553Met) GRCh37: Chr20:56140649 GRCh38: Chr20:57565593	PCK1	T553M	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33889257.	NM_002591.4(PCK1):c.1644C>G (p.Ala548=) GRCh37: Chr20:56140635 GRCh38: Chr20:57565579	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (Nov 15, 2021)	criteria provided, conflicting interpretations
Select item 33889158.	NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr) GRCh37: Chr20:56140633 GRCh38: Chr20:57565577	PCK1	A548T	Phosphoenolpyruvate carboxykinase deficiency, cytosolic, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 33889059.	NM_002591.4(PCK1):c.1207A>G (p.Asn403Asp) GRCh37: Chr20:56139558 GRCh38: Chr20:57564502	PCK1	N403D	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33888960.	NM_002591.4(PCK1):c.1140T>C (p.Gly380=) GRCh37: Chr20:56139403 GRCh38: Chr20:57564347	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33888861.	NM_002591.4(PCK1):c.1102G>A (p.Val368Ile) GRCh37: Chr20:56139365 GRCh38: Chr20:57564309	PCK1	V368I	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33888762.	NM_002591.4(PCK1):c.954C>T (p.Asp318=) GRCh37: Chr20:56138776 GRCh38: Chr20:57563720	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 33888663.	NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) GRCh37: Chr20:56138747 GRCh38: Chr20:57563691	PCK1	G309R	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 33888564.	NM_002591.4(PCK1):c.898C>T (p.Leu300Phe) GRCh37: Chr20:56138720 GRCh38: Chr20:57563664	PCK1	L300F	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33888465.	NM_002591.4(PCK1):c.873C>T (p.Thr291=) GRCh37: Chr20:56138695 GRCh38: Chr20:57563639	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33888366.	NM_002591.4(PCK1):c.826G>A (p.Glu276Lys) GRCh37: Chr20:56138648 GRCh38: Chr20:57563592	PCK1	E276K	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33888267.	NM_002591.4(PCK1):c.799A>G (p.Ile267Val) GRCh37: Chr20:56138621 GRCh38: Chr20:57563565	PCK1	I267V	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33888168.	NM_002591.4(PCK1):c.705C>T (p.Tyr235=) GRCh37: Chr20:56138178 GRCh38: Chr20:57563122	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33888069.	NM_002591.4(PCK1):c.556G>A (p.Asp186Asn) GRCh37: Chr20:56137901 GRCh38: Chr20:57562845	PCK1	D186N	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 33887970.	NM_002591.4(PCK1):c.550G>C (p.Val184Leu) GRCh37: Chr20:56137895 GRCh38: Chr20:57562839	PCK1	V184L	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33887871.	NM_002591.4(PCK1):c.538G>A (p.Val180Ile) GRCh37: Chr20:56137883 GRCh38: Chr20:57562827	PCK1	V180I	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33887772.	NM_002591.4(PCK1):c.489A>G (p.Ser163=) GRCh37: Chr20:56137834 GRCh38: Chr20:57562778	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33887673.	NM_002591.4(PCK1):c.462A>G (p.Ser154=) GRCh37: Chr20:56137807 GRCh38: Chr20:57562751	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33887574.	NM_002591.4(PCK1):c.453G>A (p.Ser151=) GRCh37: Chr20:56137798 GRCh38: Chr20:57562742	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33887475.	NM_002591.4(PCK1):c.282C>T (p.Ile94=) GRCh37: Chr20:56137184 GRCh38: Chr20:57562128	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33887276.	NM_002591.4(PCK1):c.203G>T (p.Arg68Leu) GRCh37: Chr20:56136670 GRCh38: Chr20:57561614	PCK1	R68L	Inborn genetic diseases, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33887177.	NM_002591.4(PCK1):c.179T>C (p.Met60Thr) GRCh37: Chr20:56136646 GRCh38: Chr20:57561590	PCK1	M60T	not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33887078.	NM_002591.4(PCK1):c.141C>T (p.Asp47=) GRCh37: Chr20:56136608 GRCh38: Chr20:57561552	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 33886979.	NM_002591.4(PCK1):c.102C>T (p.Asn34=) GRCh37: Chr20:56136569 GRCh38: Chr20:57561513	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 33886880.	NM_002591.4(PCK1):c.69A>G (p.Leu23=) GRCh37: Chr20:56136536 GRCh38: Chr20:57561480	PCK1		not provided, Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33886781.	NM_002591.4(PCK1):c.-54C>T GRCh37: Chr20:56136246 GRCh38: Chr20:57561190	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33886682.	NM_002591.4(PCK1):c.-64C>T GRCh37: Chr20:56136236 GRCh38: Chr20:57561180	PCK1		Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8172983.	NM_002591.4(PCK1):c.1537C>T (p.His513Tyr) GRCh37: Chr20:56140528 GRCh38: Chr20:57565472	PCK1	H513Y	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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Items: 83