Pck2 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

272 records found for search term Pck2

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
152109765	CV1617547	single nucleotide variant	NM_004563.4(PCK2):c.664+9C>G	not provided [RCV002116396]	likely benign	14	24098687	24098687	Human		name
156446965	CV1948658	single nucleotide variant	NM_004563.4(PCK2):c.275+1G>A	not provided [RCV003118488]	uncertain significance	14	24097138	24097138	Human		name
156365905	CV2130629	single nucleotide variant	NM_004563.4(PCK2):c.276-3C>G	not provided [RCV002967301]	uncertain significance	14	24098200	24098200	Human		name
405121042	CV2888041	single nucleotide variant	NM_004563.4(PCK2):c.853-8A>G	not provided [RCV003559095]	uncertain significance	14	24099550	24099550	Human		name
405056579	CV2932098	single nucleotide variant	NM_004563.4(PCK2):c.461-8C>T	not provided [RCV003580170]	likely benign	14	24098467	24098467	Human		name
405140310	CV3045932	single nucleotide variant	NM_004563.4(PCK2):c.30-20T>C	not provided [RCV003725590]	likely benign	14	24096872	24096872	Human		name
405073221	CV3145482	single nucleotide variant	NM_004563.4(PCK2):c.30-13G>A	not provided [RCV003851067]	likely benign	14	24096879	24096879	Human		name
597889805	CV3739449	single nucleotide variant	NM_004563.4(PCK2):c.461-7T>G	not provided [RCV005070996]	uncertain significance	14	24098468	24098468	Human		name
151741490	CV1466809	single nucleotide variant	NM_004563.4(PCK2):c.1373-2A>T	not provided [RCV001911969]	uncertain significance	14	24103158	24103158	Human		name
152116945	CV1555991	single nucleotide variant	NM_004563.4(PCK2):c.461-20G>A	not provided [RCV002216266]	benign	14	24098455	24098455	Human		name
152154827	CV1556557	single nucleotide variant	NM_004563.4(PCK2):c.1469-3C>A	not provided [RCV002122270]	benign	14	24103507	24103507	Human		name
152030120	CV1570710	single nucleotide variant	NM_004563.4(PCK2):c.1234+9G>A	not provided [RCV002105824]	likely benign	14	24100222	24100222	Human		name
155928774	CV2041654	single nucleotide variant	NM_004563.4(PCK2):c.853-16T>G	not provided [RCV002751053]	likely benign	14	24099542	24099542	Human		name
156281818	CV2042886	single nucleotide variant	NM_004563.4(PCK2):c.664+16G>A	not provided [RCV002770414]	likely benign	14	24098694	24098694	Human		name
402473833	CV2857955	single nucleotide variant	NM_004563.4(PCK2):c.1469-6C>G	PCK2-related disorder [RCV003919253]\|not provided [RCV003543030]	likely benign\|uncertain significance	14	24103504	24103504	Human	1	name , trait , alternate_id
405007106	CV2926680	single nucleotide variant	NM_004563.4(PCK2):c.1469-2A>T	not provided [RCV003576424]	uncertain significance	14	24103508	24103508	Human		name
404980319	CV3009875	single nucleotide variant	NM_004563.4(PCK2):c.1469-4C>G	not provided [RCV003691110]	likely benign	14	24103506	24103506	Human		name
405168008	CV3029048	single nucleotide variant	NM_004563.4(PCK2):c.1234+8C>T	PCK2-related disorder [RCV003929295]\|not provided [RCV003704459]	likely benign	14	24100221	24100221	Human	1	name , trait , alternate_id
405032754	CV3075070	single nucleotide variant	NM_004563.4(PCK2):c.1469-5C>G	not provided [RCV003739270]	uncertain significance	14	24103505	24103505	Human		name
597916781	CV3737430	single nucleotide variant	NM_004563.4(PCK2):c.853-20C>T	not provided [RCV005074219]	likely benign	14	24099538	24099538	Human		name
597936477	CV3862504	single nucleotide variant	NM_004563.4(PCK2):c.1469-3C>G	not provided [RCV005207776]	uncertain significance	14	24103507	24103507	Human		name
13442756	CV434702	single nucleotide variant	NM_004563.4(PCK2):c.1468+2T>C	PCK2-related disorder [RCV004755943]\|Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV000509359]\|not provided [RCV002060174]	pathogenic\|likely benign\|uncertain significance\|not provided	14	24103257	24103257	Human	1	name , trait , alternate_id
13489719	CV445217	single nucleotide variant	NM_004563.4(PCK2):c.1469-1G>A	not provided [RCV000523980]	pathogenic\|uncertain significance	14	24103509	24103509	Human		name
13521313	CV495753	single nucleotide variant	NM_004563.4(PCK2):c.1234+1G>T	Phosphoenolpyruvate carboxykinase (GTP) deficiency [RCV005357793]\|not provided [RCV000676223]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	24100214	24100214	Human	1	name
15109903	CV730933	duplication	NM_004563.4(PCK2):c.1469-3dup	PCK2-related disorder [RCV003895462]\|Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV002501488]\|not provided [RCV000893956]	benign\|likely benign	14	24103500	24103501	Human	1	name , trait , alternate_id
156131157	CV1885523	single nucleotide variant	NM_004563.4(PCK2):c.1372+16G>C	not provided [RCV003081843]	likely benign	14	24102906	24102906	Human		name
156417892	CV1920657	single nucleotide variant	NM_004563.4(PCK2):c.1235-10C>T	not provided [RCV002611061]	likely benign	14	24102743	24102743	Human		name
401910355	CV2810312	single nucleotide variant	NM_004563.4(PCK2):c.1234+54G>A	PCK2-related disorder [RCV003938920]\|not provided [RCV003424986]	benign\|likely benign	14	24100267	24100267	Human	1	name , trait , alternate_id
405163471	CV2895634	single nucleotide variant	NM_004563.4(PCK2):c.1235-17T>C	not provided [RCV003562557]	likely benign	14	24102736	24102736	Human		name
402502265	CV3035524	single nucleotide variant	NM_004563.4(PCK2):c.1468+12C>T	not provided [RCV003714813]	likely benign	14	24103267	24103267	Human		name
405192282	CV3157175	single nucleotide variant	NM_004563.4(PCK2):c.1469-16C>G	not provided [RCV003859863]	likely benign	14	24103494	24103494	Human		name
405269917	CV3198026	single nucleotide variant	NM_004563.4(PCK2):c.1234+26A>T	PCK2-related disorder [RCV003899836]	likely benign	14	24100239	24100239	Human		name , trait , alternate_id
405279427	CV3206466	single nucleotide variant	NM_004563.4(PCK2):c.1234+99C>G	PCK2-related disorder [RCV003954960]	likely benign	14	24100312	24100312	Human		name , trait , alternate_id
405262248	CV3220063	single nucleotide variant	NM_004563.4(PCK2):c.1234+52T>C	PCK2-related disorder [RCV003967203]	likely benign	14	24100265	24100265	Human		name , trait , alternate_id
597877951	CV3813622	single nucleotide variant	NM_004563.4(PCK2):c.1234+14G>A	not provided [RCV005149364]	likely benign	14	24100227	24100227	Human		name
597877862	CV3825850	single nucleotide variant	NM_004563.4(PCK2):c.1373-12T>C	not provided [RCV005177724]	likely benign	14	24103148	24103148	Human		name
41405249	CV981856	single nucleotide variant	NM_004563.4(PCK2):c.1469-10T>C	not provided [RCV001812490]	benign	14	24103500	24103500	Human		name
13788222	CV550002	single nucleotide variant	NM_004563.4(PCK2):c.6C>T (p.Ala2=)	not provided [RCV000676212]	benign	14	24094411	24094411	Human		name
13788245	CV550009	inversion	NM_004563.4(PCK2):c.460+3_460+4inv	not provided [RCV000676219]	likely benign	14	24098390	24098391	Human		name
402497985	CV3179257	single nucleotide variant	NM_004563.4(PCK2):c.18C>A (p.Arg6=)	not provided [RCV003877524]	likely benign	14	24094423	24094423	Human		name
597889994	CV3762815	single nucleotide variant	NM_004563.4(PCK2):c.10T>C (p.Leu4=)	not provided [RCV005110588]	likely benign	14	24094415	24094415	Human		name
21072573	CV791396	variation	NM_004563.4(PCK2):c.362= (p.Pro121=)	not provided [RCV002068711]	benign	14	24098289	24098289	Human		name
152031401	CV1546574	single nucleotide variant	NM_004563.4(PCK2):c.150C>T (p.His50=)	not provided [RCV002124544]	likely benign\|conflicting interpretations of pathogenicity	14	24097012	24097012	Human		name
156147476	CV1895222	single nucleotide variant	NM_004563.4(PCK2):c.11T>G (p.Leu4Trp)	not provided [RCV003082432]	uncertain significance	14	24094416	24094416	Human		name
156399155	CV1984802	single nucleotide variant	NM_004563.4(PCK2):c.231G>A (p.Leu77=)	not provided [RCV002605435]	likely benign\|uncertain significance	14	24097093	24097093	Human		name
401887738	CV2770125	single nucleotide variant	NM_004563.4(PCK2):c.17G>A (p.Arg6His)	not specified [RCV004356026]	uncertain significance	14	24094422	24094422	Human		name
402486985	CV2865455	single nucleotide variant	NM_004563.4(PCK2):c.162G>T (p.Leu54=)	not provided [RCV003544571]	likely benign	14	24097024	24097024	Human		name
405236037	CV2887808	single nucleotide variant	NM_004563.4(PCK2):c.12G>C (p.Leu4Phe)	not provided [RCV003556409]\|not specified [RCV004661681]	uncertain significance	14	24094417	24094417	Human		name
597696918	CV3571774	single nucleotide variant	NM_004563.4(PCK2):c.276C>T (p.Cys92=)	not specified [RCV004839267]	likely benign	14	24098203	24098203	Human		name
151771534	CV1417687	single nucleotide variant	NM_004563.4(PCK2):c.74G>A (p.Arg25His)	not provided [RCV001874497]	uncertain significance	14	24096936	24096936	Human		name
152098675	CV1627117	single nucleotide variant	NM_004563.4(PCK2):c.510G>A (p.Pro170=)	not provided [RCV002095215]	likely benign	14	24098524	24098524	Human		name
152099193	CV1663926	single nucleotide variant	NM_004563.4(PCK2):c.327G>A (p.Thr109=)	not provided [RCV002078764]	likely benign	14	24098254	24098254	Human		name
156221571	CV2025066	single nucleotide variant	NM_004563.4(PCK2):c.717C>T (p.His239=)	not provided [RCV002712165]	likely benign	14	24099101	24099101	Human		name
156345732	CV2121051	single nucleotide variant	NM_004563.4(PCK2):c.900C>T (p.Ala300=)	not provided [RCV002939159]	likely benign	14	24099605	24099605	Human		name
155937756	CV2125834	single nucleotide variant	NM_004563.4(PCK2):c.92G>A (p.Arg31Gln)	not provided [RCV002971070]\|not specified [RCV004068161]	uncertain significance	14	24096954	24096954	Human		name
156054663	CV2393084	single nucleotide variant	NM_004563.4(PCK2):c.94G>A (p.Val32Met)	not provided [RCV005099143]\|not specified [RCV004226571]	uncertain significance	14	24096956	24096956	Human		name
402520708	CV2902754	single nucleotide variant	NM_004563.4(PCK2):c.915C>A (p.Ala305=)	not provided [RCV003575833]	likely benign	14	24099620	24099620	Human		name
402474041	CV2919613	single nucleotide variant	NM_004563.4(PCK2):c.943C>A (p.Arg315=)	PCK2-related disorder [RCV003966535]\|not provided [RCV003571118]	likely benign	14	24099648	24099648	Human	1	name , trait , alternate_id
405263877	CV3189877	single nucleotide variant	NM_004563.4(PCK2):c.483A>G (p.Pro161=)	PCK2-related disorder [RCV003896925]	likely benign	14	24098497	24098497	Human		name , trait , alternate_id
405278462	CV3221960	single nucleotide variant	NM_004563.4(PCK2):c.753C>T (p.Ser251=)	PCK2-related disorder [RCV003976502]	likely benign	14	24099137	24099137	Human		name , trait , alternate_id
405761368	CV3364652	single nucleotide variant	NM_004563.4(PCK2):c.73C>T (p.Arg25Cys)	not provided [RCV005104813]\|not specified [RCV004500667]	uncertain significance	14	24096935	24096935	Human		name
405872017	CV3398189	single nucleotide variant	NM_004563.4(PCK2):c.840A>C (p.Ala280=)	not provided [RCV004575190]	likely benign	14	24099224	24099224	Human		name
405872053	CV3398207	single nucleotide variant	NM_004563.4(PCK2):c.810T>C (p.Ser270=)	not provided [RCV004575208]	likely benign	14	24099194	24099194	Human		name
405872197	CV3398305	single nucleotide variant	NM_004563.4(PCK2):c.798A>T (p.Leu266=)	not provided [RCV004575306]	likely benign	14	24099182	24099182	Human		name
405872249	CV3398332	single nucleotide variant	NM_004563.4(PCK2):c.825T>C (p.Asp275=)	not provided [RCV004575333]	likely benign	14	24099209	24099209	Human		name
405873371	CV3398522	single nucleotide variant	NM_004563.4(PCK2):c.798A>C (p.Leu266=)	not provided [RCV004576018]	likely benign	14	24099182	24099182	Human		name
596947949	CV3547540	single nucleotide variant	NM_004563.4(PCK2):c.762T>C (p.Gly254=)	not provided [RCV004811844]	likely benign	14	24099146	24099146	Human		name
597696877	CV3571767	single nucleotide variant	NM_004563.4(PCK2):c.74G>C (p.Arg25Pro)	not specified [RCV004839262]	uncertain significance	14	24096936	24096936	Human		name
12743188	CV361335	single nucleotide variant	NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV001169903]\|not provided [RCV000416137]\|not specified [RCV000441776]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	24096930	24096930	Human	1	name , alternate_id
597896301	CV3744206	single nucleotide variant	NM_004563.4(PCK2):c.333T>A (p.Ile111=)	not provided [RCV005071676]	likely benign	14	24098260	24098260	Human		name
597973462	CV3801157	single nucleotide variant	NM_004563.4(PCK2):c.981G>A (p.Gly327=)	not provided [RCV005143352]	likely benign	14	24099686	24099686	Human		name
597921468	CV3808049	single nucleotide variant	NM_004563.4(PCK2):c.768C>T (p.Asn256=)	not provided [RCV005155757]	likely benign	14	24099152	24099152	Human		name
597833054	CV3831442	single nucleotide variant	NM_004563.4(PCK2):c.882G>A (p.Lys294=)	not provided [RCV005170644]	likely benign	14	24099587	24099587	Human		name
597969833	CV3832051	single nucleotide variant	NM_004563.4(PCK2):c.549T>C (p.Tyr183=)	not provided [RCV005166307]	likely benign	14	24098563	24098563	Human		name
616939534	CV4014029	single nucleotide variant	NM_004563.4(PCK2):c.798A>G (p.Leu266=)	not provided [RCV005413521]	likely benign	14	24099182	24099182	Human		name
13788228	CV550004	single nucleotide variant	NM_004563.4(PCK2):c.372T>C (p.Pro124=)	not provided [RCV000676214]	benign	14	24098299	24098299	Human		name
13788249	CV550010	single nucleotide variant	NM_004563.4(PCK2):c.747C>T (p.Phe249=)	not provided [RCV000676220]	benign\|likely benign	14	24099131	24099131	Human		name
15182781	CV714083	single nucleotide variant	NM_004563.4(PCK2):c.885G>A (p.Lys295=)	not provided [RCV000974718]	benign	14	24099590	24099590	Human		name
15195366	CV725630	single nucleotide variant	NM_004563.4(PCK2):c.708G>A (p.Leu236=)	not provided [RCV000889484]	likely benign	14	24099092	24099092	Human		name
126736743	CV1021197	single nucleotide variant	NM_004563.4(PCK2):c.157C>T (p.Arg53Cys)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV001335153]\|not provided [RCV002547335]\|not specified [RCV004035790]	uncertain significance	14	24097019	24097019	Human	1	name , alternate_id
126736739	CV1021198	single nucleotide variant	NM_004563.4(PCK2):c.287G>A (p.Arg96His)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV001335152]\|not provided [RCV003698862]	uncertain significance	14	24098214	24098214	Human	1	name , alternate_id
151841331	CV1463095	single nucleotide variant	NM_004563.4(PCK2):c.157C>A (p.Arg53Ser)	not provided [RCV002031855]	uncertain significance	14	24097019	24097019	Human		name
152165449	CV1536542	single nucleotide variant	NM_004563.4(PCK2):c.1896C>T (p.Ala632=)	not provided [RCV002160453]	likely benign	14	24103937	24103937	Human		name
156345901	CV1882887	single nucleotide variant	NM_004563.4(PCK2):c.1842G>A (p.Leu614=)	not provided [RCV003090634]	likely benign	14	24103883	24103883	Human		name
156382236	CV1890100	single nucleotide variant	NM_004563.4(PCK2):c.1587C>T (p.Ile529=)	not provided [RCV003093377]	likely benign	14	24103628	24103628	Human		name
156223848	CV2037830	deletion	NM_004563.4(PCK2):c.297del (p.Lys100fs)	not provided [RCV002790732]	uncertain significance	14	24098221	24098221	Human		name
156004588	CV2041859	single nucleotide variant	NM_004563.4(PCK2):c.251G>A (p.Arg84Gln)	not provided [RCV002756367]\|not specified [RCV004067940]	uncertain significance	14	24097113	24097113	Human		name
156263629	CV2095602	single nucleotide variant	NM_004563.4(PCK2):c.273C>A (p.Asn91Lys)	not provided [RCV002895672]\|not specified [RCV004837853]	uncertain significance	14	24097135	24097135	Human		name
156022897	CV2111173	single nucleotide variant	NM_004563.4(PCK2):c.1524C>T (p.Phe508=)	not provided [RCV002909698]	likely benign	14	24103565	24103565	Human		name
156231357	CV2111755	single nucleotide variant	NM_004563.4(PCK2):c.197C>G (p.Thr66Ser)	not provided [RCV002932845]\|not specified [RCV004066973]	uncertain significance	14	24097059	24097059	Human		name
156098017	CV2116961	single nucleotide variant	NM_004563.4(PCK2):c.1044C>T (p.Asn348=)	not provided [RCV002952628]	likely benign	14	24100023	24100023	Human		name
156039895	CV2143395	single nucleotide variant	NM_004563.4(PCK2):c.1170C>T (p.Gly390=)	not provided [RCV002999477]	likely benign	14	24100149	24100149	Human		name
156228633	CV2234900	single nucleotide variant	NM_004563.4(PCK2):c.218C>T (p.Thr73Ile)	not specified [RCV004113108]	likely benign	14	24097080	24097080	Human		name
156020057	CV2270182	single nucleotide variant	NM_004563.4(PCK2):c.269A>G (p.Asn90Ser)	not specified [RCV004135409]	uncertain significance	14	24097131	24097131	Human		name
156176681	CV2317528	single nucleotide variant	NM_004563.4(PCK2):c.187T>G (p.Cys63Gly)	not specified [RCV004172485]	uncertain significance	14	24097049	24097049	Human		name
405068363	CV2875636	single nucleotide variant	NM_004563.4(PCK2):c.1485C>T (p.His495=)	not provided [RCV003548379]	likely benign	14	24103526	24103526	Human		name
405198324	CV2880580	single nucleotide variant	NM_004563.4(PCK2):c.250C>T (p.Arg84Ter)	not provided [RCV003551121]	uncertain significance	14	24097112	24097112	Human		name
402493392	CV2887054	single nucleotide variant	NM_004563.4(PCK2):c.121C>T (p.Pro41Ser)	not provided [RCV003573242]	uncertain significance	14	24096983	24096983	Human		name
402468210	CV2911470	single nucleotide variant	NM_004563.4(PCK2):c.287G>T (p.Arg96Leu)	not provided [RCV003569852]	uncertain significance	14	24098214	24098214	Human		name
402475005	CV2916027	single nucleotide variant	NM_004563.4(PCK2):c.1155C>T (p.Gly385=)	not provided [RCV003571277]	benign	14	24100134	24100134	Human		name
405206457	CV3064328	single nucleotide variant	NM_004563.4(PCK2):c.1281G>A (p.Pro427=)	not provided [RCV003731372]	uncertain significance	14	24102799	24102799	Human		name
402511296	CV3178371	single nucleotide variant	NM_004563.4(PCK2):c.179T>C (p.Ile60Thr)	not provided [RCV003878988]	uncertain significance	14	24097041	24097041	Human		name
405291545	CV3205836	single nucleotide variant	NM_004563.4(PCK2):c.1623G>A (p.Gly541=)	PCK2-related disorder [RCV003963959]	likely benign	14	24103664	24103664	Human		name , trait , alternate_id
405761352	CV3364649	single nucleotide variant	NM_004563.4(PCK2):c.286C>T (p.Arg96Cys)	not specified [RCV004500664]	uncertain significance	14	24098213	24098213	Human		name
597893912	CV3763553	single nucleotide variant	NM_004563.4(PCK2):c.1728G>A (p.Val576=)	not provided [RCV005111134]	likely benign	14	24103769	24103769	Human		name
597864996	CV3767128	single nucleotide variant	NM_004563.4(PCK2):c.1092C>T (p.Asn364=)	not provided [RCV005106650]	likely benign	14	24100071	24100071	Human		name
597854004	CV3805898	single nucleotide variant	NM_004563.4(PCK2):c.1614C>T (p.Asp538=)	not provided [RCV005145828]	likely benign	14	24103655	24103655	Human		name
597871586	CV3835715	duplication	NM_004563.4(PCK2):c.736dup (p.Ile246fs)	not provided [RCV005176706]	uncertain significance	14	24099119	24099120	Human		name
597921558	CV3843101	single nucleotide variant	NM_004563.4(PCK2):c.1791C>A (p.Ser597=)	not provided [RCV005184393]	likely benign	14	24103832	24103832	Human		name
617153214	CV4021165	single nucleotide variant	NM_004563.4(PCK2):c.232G>C (p.Glu78Gln)	not provided [RCV005428918]	uncertain significance	14	24097094	24097094	Human		name
617153217	CV4021166	single nucleotide variant	NM_004563.4(PCK2):c.233A>T (p.Glu78Val)	not provided [RCV005428919]	uncertain significance	14	24097095	24097095	Human		name
617153219	CV4021167	single nucleotide variant	NM_004563.4(PCK2):c.234G>C (p.Glu78Asp)	not provided [RCV005428920]	uncertain significance	14	24097096	24097096	Human		name
12900524	CV409105	deletion	NM_004563.4(PCK2):c.792del (p.Phe264fs)	not provided [RCV000482574]	uncertain significance	14	24099174	24099174	Human		name
13788225	CV550003	single nucleotide variant	NM_004563.4(PCK2):c.190G>A (p.Asp64Asn)	PCK2-related disorder [RCV003918110]\|not provided [RCV000676213]	benign\|likely benign	14	24097052	24097052	Human	1	name , trait , alternate_id
13788238	CV550007	deletion	NM_004563.4(PCK2):c.457del (p.Gln153fs)	not provided [RCV000676217]	likely pathogenic	14	24098384	24098384	Human		name
13788256	CV550012	single nucleotide variant	NM_004563.4(PCK2):c.1230A>G (p.Lys410=)	not provided [RCV000676222]	benign	14	24100209	24100209	Human		name
13788267	CV550014	single nucleotide variant	NM_004563.4(PCK2):c.1479C>T (p.Ile493=)	not provided [RCV000676225]	likely benign	14	24103520	24103520	Human		name
14393779	CV609888	single nucleotide variant	NM_004563.4(PCK2):c.260C>G (p.Pro87Arg)	not provided [RCV000756465]	uncertain significance	14	24097122	24097122	Human		name
15187225	CV725631	single nucleotide variant	NM_004563.4(PCK2):c.1095C>T (p.Ala365=)	not provided [RCV000887196]	benign	14	24100074	24100074	Human		name
126736726	CV1021199	duplication	NM_004563.4(PCK2):c.1125dup (p.Thr376fs)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV001335149]	pathogenic	14	24100099	24100100	Human		name , alternate_id
151877624	CV1481082	single nucleotide variant	NM_004563.4(PCK2):c.424C>T (p.Arg142Ter)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV002491992]\|not provided [RCV001982106]	uncertain significance	14	24098351	24098351	Human	1	name , alternate_id
151892469	CV1481155	single nucleotide variant	NM_004563.4(PCK2):c.565C>T (p.Arg189Cys)	not provided [RCV001944145]\|not specified [RCV004837826]	uncertain significance	14	24098579	24098579	Human		name
151825943	CV1507218	single nucleotide variant	NM_004563.4(PCK2):c.463C>T (p.Arg155Cys)	not provided [RCV001955213]	uncertain significance	14	24098477	24098477	Human		name
152100712	CV1610887	single nucleotide variant	NM_004563.4(PCK2):c.730C>T (p.Arg244Trp)	not provided [RCV002133243]	benign	14	24099114	24099114	Human		name
155999164	CV1872679	single nucleotide variant	NM_004563.4(PCK2):c.520A>T (p.Ile174Phe)	not provided [RCV003076496]	uncertain significance	14	24098534	24098534	Human		name
156326188	CV1880807	single nucleotide variant	NM_004563.4(PCK2):c.509C>T (p.Pro170Leu)	PCK2-related neuropathy [RCV003108145]\|not provided [RCV003063417]	likely pathogenic\|uncertain significance	14	24098523	24098523	Human	1	name , trait
155970597	CV1885034	single nucleotide variant	NM_004563.4(PCK2):c.383G>A (p.Arg128His)	not provided [RCV003075158]\|not specified [RCV004071732]	uncertain significance	14	24098310	24098310	Human		name
156233975	CV1885340	single nucleotide variant	NM_004563.4(PCK2):c.779G>A (p.Gly260Asp)	not provided [RCV003085482]	uncertain significance	14	24099163	24099163	Human		name
156292380	CV1887159	single nucleotide variant	NM_004563.4(PCK2):c.941T>C (p.Met314Thr)	not provided [RCV003087539]	uncertain significance	14	24099646	24099646	Human		name
155940680	CV1913739	single nucleotide variant	NM_004563.4(PCK2):c.806C>T (p.Ala269Val)	not provided [RCV002615613]	uncertain significance	14	24099190	24099190	Human		name
156022430	CV1919944	single nucleotide variant	NM_004563.4(PCK2):c.799C>T (p.Arg267Cys)	not provided [RCV002603028]\|not specified [RCV004068922]	uncertain significance	14	24099183	24099183	Human		name
156419354	CV1932570	single nucleotide variant	NM_004563.4(PCK2):c.805G>A (p.Ala269Thr)	not provided [RCV002612584]	uncertain significance	14	24099189	24099189	Human		name
156254869	CV2082761	single nucleotide variant	NM_004563.4(PCK2):c.764G>A (p.Gly255Asp)	not provided [RCV002877070]	uncertain significance	14	24099148	24099148	Human		name
156089864	CV2092298	deletion	NM_004563.4(PCK2):c.1688del (p.Glu563fs)	not provided [RCV002912997]	uncertain significance	14	24103729	24103729	Human		name
156263999	CV2095655	single nucleotide variant	NM_004563.4(PCK2):c.368C>T (p.Pro123Leu)	not provided [RCV002895685]	likely benign	14	24098295	24098295	Human		name
155919008	CV2102272	single nucleotide variant	NM_004563.4(PCK2):c.523G>A (p.Gly175Arg)	not provided [RCV002903253]	uncertain significance	14	24098537	24098537	Human		name
156167930	CV2102362	single nucleotide variant	NM_004563.4(PCK2):c.989T>C (p.Ile330Thr)	not provided [RCV002891234]	uncertain significance	14	24099694	24099694	Human		name
156296879	CV2111704	single nucleotide variant	NM_004563.4(PCK2):c.781A>C (p.Lys261Gln)	not provided [RCV002922387]	uncertain significance	14	24099165	24099165	Human		name
156230135	CV2111941	single nucleotide variant	NM_004563.4(PCK2):c.811C>T (p.Arg271Trp)	not provided [RCV002918904]	uncertain significance	14	24099195	24099195	Human		name
156128773	CV2125038	single nucleotide variant	NM_004563.4(PCK2):c.799C>G (p.Arg267Gly)	not provided [RCV002953797]	uncertain significance	14	24099183	24099183	Human		name
156023371	CV2139009	single nucleotide variant	NM_004563.4(PCK2):c.494G>A (p.Gly165Asp)	not provided [RCV002998790]	uncertain significance	14	24098508	24098508	Human		name
156300643	CV2248848	single nucleotide variant	NM_004563.4(PCK2):c.949G>A (p.Ala317Thr)	not specified [RCV004115861]	uncertain significance	14	24099654	24099654	Human		name
156187926	CV2258341	single nucleotide variant	NM_004563.4(PCK2):c.674T>G (p.Val225Gly)	not specified [RCV004121692]	uncertain significance	14	24099058	24099058	Human		name
401761717	CV2713862	single nucleotide variant	NM_004563.4(PCK2):c.734A>C (p.Glu245Ala)	not specified [RCV004315303]	uncertain significance	14	24099118	24099118	Human		name
405191604	CV2875884	single nucleotide variant	NM_004563.4(PCK2):c.644G>A (p.Gly215Asp)	not provided [RCV003550451]\|not specified [RCV004369054]	uncertain significance	14	24098658	24098658	Human		name
405224749	CV2885632	single nucleotide variant	NM_004563.4(PCK2):c.812G>A (p.Arg271Gln)	not provided [RCV003554465]	uncertain significance	14	24099196	24099196	Human		name
402471913	CV2912093	single nucleotide variant	NM_004563.4(PCK2):c.731G>A (p.Arg244Gln)	not provided [RCV003570675]	uncertain significance	14	24099115	24099115	Human		name
405033201	CV3009059	single nucleotide variant	NM_004563.4(PCK2):c.664G>A (p.Gly222Arg)	not provided [RCV003695637]	uncertain significance	14	24098678	24098678	Human		name
405125246	CV3043325	single nucleotide variant	NM_004563.4(PCK2):c.820C>T (p.Arg274Trp)	not provided [RCV003724219]	uncertain significance	14	24099204	24099204	Human		name
405126244	CV3053467	single nucleotide variant	NM_004563.4(PCK2):c.886C>T (p.Arg296Cys)	not provided [RCV003724399]\|not specified [RCV004837913]	uncertain significance	14	24099591	24099591	Human		name
405046836	CV3071711	single nucleotide variant	NM_004563.4(PCK2):c.718G>A (p.Val240Met)	not provided [RCV003740315]	uncertain significance	14	24099102	24099102	Human		name
405121798	CV3116639	single nucleotide variant	NM_004563.4(PCK2):c.748G>C (p.Gly250Arg)	not provided [RCV003814941]	uncertain significance	14	24099132	24099132	Human		name
405235624	CV3166300	single nucleotide variant	NM_004563.4(PCK2):c.919G>A (p.Gly307Ser)	not provided [RCV003853749]	uncertain significance	14	24099624	24099624	Human		name
405761357	CV3364650	single nucleotide variant	NM_004563.4(PCK2):c.518G>A (p.Arg173His)	not specified [RCV004500665]	uncertain significance	14	24098532	24098532	Human		name
405761363	CV3364651	single nucleotide variant	NM_004563.4(PCK2):c.694C>T (p.Pro232Ser)	not specified [RCV004500666]	uncertain significance	14	24099078	24099078	Human		name
407483751	CV3459939	single nucleotide variant	NM_004563.4(PCK2):c.425G>A (p.Arg142Gln)	not provided [RCV005059705]\|not specified [RCV004653360]	likely benign\|uncertain significance	14	24098352	24098352	Human		name
408366852	CV3518007	single nucleotide variant	NM_004563.4(PCK2):c.917G>A (p.Cys306Tyr)	PCK2-related disorder [RCV004757086]	uncertain significance	14	24099622	24099622	Human		name , trait , alternate_id
596932728	CV3539355	single nucleotide variant	NM_004563.4(PCK2):c.529C>T (p.Gln177Ter)	not provided [RCV004793979]	uncertain significance	14	24098543	24098543	Human		name
597696848	CV3571763	single nucleotide variant	NM_004563.4(PCK2):c.748G>T (p.Gly250Cys)	not specified [RCV004839259]	uncertain significance	14	24099132	24099132	Human		name
597756587	CV3571764	single nucleotide variant	NM_004563.4(PCK2):c.586A>T (p.Thr196Ser)	not specified [RCV004848153]	uncertain significance	14	24098600	24098600	Human		name
597696858	CV3571765	single nucleotide variant	NM_004563.4(PCK2):c.350G>A (p.Arg117Gln)	not specified [RCV004839260]	uncertain significance	14	24098277	24098277	Human		name
597696885	CV3571768	single nucleotide variant	NM_004563.4(PCK2):c.838G>T (p.Ala280Ser)	not specified [RCV004839263]	uncertain significance	14	24099222	24099222	Human		name
597696902	CV3571771	single nucleotide variant	NM_004563.4(PCK2):c.887G>A (p.Arg296His)	not specified [RCV004839265]	uncertain significance	14	24099592	24099592	Human		name
597756593	CV3571772	single nucleotide variant	NM_004563.4(PCK2):c.892G>A (p.Val298Met)	not specified [RCV004848154]	uncertain significance	14	24099597	24099597	Human		name
597696912	CV3571773	single nucleotide variant	NM_004563.4(PCK2):c.659G>A (p.Gly220Glu)	not specified [RCV004839266]	uncertain significance	14	24098673	24098673	Human		name
12836240	CV373812	single nucleotide variant	NM_004563.4(PCK2):c.310C>T (p.Arg104Ter)	not provided [RCV000423053]	uncertain significance	14	24098237	24098237	Human		name
597969669	CV3753416	single nucleotide variant	NM_004563.4(PCK2):c.541T>G (p.Ser181Ala)	not provided [RCV005083901]	uncertain significance	14	24098555	24098555	Human		name
597964454	CV3754361	single nucleotide variant	NM_004563.4(PCK2):c.589C>T (p.Pro197Ser)	not provided [RCV005082468]	uncertain significance	14	24098603	24098603	Human		name
597898994	CV3770746	single nucleotide variant	NM_004563.4(PCK2):c.821G>A (p.Arg274Gln)	not provided [RCV005111897]	uncertain significance	14	24099205	24099205	Human		name
597903130	CV3835873	single nucleotide variant	NM_004563.4(PCK2):c.326C>T (p.Thr109Met)	not provided [RCV005181408]	uncertain significance	14	24098253	24098253	Human		name
597889717	CV3839632	single nucleotide variant	NM_004563.4(PCK2):c.565C>G (p.Arg189Gly)	not provided [RCV005179524]	uncertain significance	14	24098579	24098579	Human		name
598227960	CV3896070	deletion	NM_004563.4(PCK2):c.1381del (p.Leu461fs)	Phosphoenolpyruvate carboxykinase (GTP) deficiency [RCV005362320]	uncertain significance	14	24103165	24103165	Human	1	name
12898966	CV409106	single nucleotide variant	NM_004563.4(PCK2):c.802A>G (p.Ile268Val)	not provided [RCV000479103]\|not specified [RCV004023186]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	24099186	24099186	Human		name
13476711	CV445216	single nucleotide variant	NM_004563.4(PCK2):c.577C>T (p.Arg193Ter)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV000625920]\|Retinitis pigmentosa 27 [RCV003992315]\|not provided [RCV000732852]	pathogenic\|uncertain significance	14	24098591	24098591	Human	2	name , alternate_id
13788235	CV550006	single nucleotide variant	NM_004563.4(PCK2):c.453C>G (p.Cys151Trp)	not provided [RCV000676216]	uncertain significance	14	24098380	24098380	Human		name
126727560	CV1017788	single nucleotide variant	NM_004563.4(PCK2):c.1907G>A (p.Arg636His)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV001332484]\|not provided [RCV001865755]\|not specified [RCV004035741]	uncertain significance	14	24103948	24103948	Human	1	name , alternate_id
151865668	CV1381140	single nucleotide variant	NM_004563.4(PCK2):c.1429G>C (p.Ala477Pro)	not provided [RCV002018307]	uncertain significance	14	24103216	24103216	Human		name
151714823	CV1388760	single nucleotide variant	NM_004563.4(PCK2):c.1430C>T (p.Ala477Val)	not provided [RCV002002724]	uncertain significance	14	24103217	24103217	Human		name
151876863	CV1390278	single nucleotide variant	NM_004563.4(PCK2):c.1168G>C (p.Gly390Arg)	not provided [RCV001940502]	uncertain significance	14	24100147	24100147	Human		name
151745790	CV1424495	single nucleotide variant	NM_004563.4(PCK2):c.1607G>A (p.Arg536Gln)	not provided [RCV001947573]	uncertain significance	14	24103648	24103648	Human		name
151734634	CV1453149	single nucleotide variant	NM_004563.4(PCK2):c.1414G>A (p.Val472Met)	not provided [RCV002041565]	uncertain significance	14	24103201	24103201	Human		name
151752477	CV1457452	single nucleotide variant	NM_004563.4(PCK2):c.1406G>A (p.Arg469His)	not provided [RCV001913124]	uncertain significance	14	24103193	24103193	Human		name
151725430	CV1462124	single nucleotide variant	NM_004563.4(PCK2):c.1486G>A (p.Asp496Asn)	not provided [RCV001966528]\|not specified [RCV004044628]	uncertain significance	14	24103527	24103527	Human		name
151828801	CV1513956	single nucleotide variant	NM_004563.4(PCK2):c.1836C>G (p.Ser612Arg)	not provided [RCV001955471]	uncertain significance	14	24103877	24103877	Human		name
156257562	CV1875447	single nucleotide variant	NM_004563.4(PCK2):c.1831C>T (p.Arg611Trp)	not provided [RCV003060243]\|not specified [RCV004654111]	uncertain significance	14	24103872	24103872	Human		name
156413182	CV1887729	single nucleotide variant	NM_004563.4(PCK2):c.1823G>A (p.Arg608His)	not provided [RCV003073190]	uncertain significance	14	24103864	24103864	Human		name
156389079	CV1979907	single nucleotide variant	NM_004563.4(PCK2):c.1300A>G (p.Met434Val)	not provided [RCV002634829]	uncertain significance	14	24102818	24102818	Human		name
155953747	CV2043884	single nucleotide variant	NM_004563.4(PCK2):c.1916A>G (p.Lys639Arg)	not provided [RCV002775912]	uncertain significance	14	24103957	24103957	Human		name
156084888	CV2095038	single nucleotide variant	NM_004563.4(PCK2):c.1741G>A (p.Ala581Thr)	PCK2-related disorder [RCV003903808]\|not provided [RCV002912828]	benign\|likely benign	14	24103782	24103782	Human	1	name , trait , alternate_id
155994121	CV2095648	single nucleotide variant	NM_004563.4(PCK2):c.1885G>A (p.Glu629Lys)	not provided [RCV002908301]	likely benign	14	24103926	24103926	Human		name
156326174	CV2108580	single nucleotide variant	NM_004563.4(PCK2):c.1646G>C (p.Gly549Ala)	not provided [RCV002938096]	uncertain significance	14	24103687	24103687	Human		name
156097721	CV2116941	single nucleotide variant	NM_004563.4(PCK2):c.1435C>T (p.Arg479Cys)	not provided [RCV002952617]	uncertain significance	14	24103222	24103222	Human		name
156209738	CV2117669	single nucleotide variant	NM_004563.4(PCK2):c.1768A>G (p.Ile590Val)	not provided [RCV002957693]	uncertain significance	14	24103809	24103809	Human		name
156144898	CV2122693	single nucleotide variant	NM_004563.4(PCK2):c.1322C>T (p.Pro441Leu)	PCK2-related disorder [RCV003916672]\|not provided [RCV002954362]	likely benign	14	24102840	24102840	Human	1	name , trait , alternate_id
156033122	CV2132738	single nucleotide variant	NM_004563.4(PCK2):c.1093G>A (p.Ala365Thr)	not provided [RCV002999225]	uncertain significance	14	24100072	24100072	Human		name
155948653	CV2132913	single nucleotide variant	NM_004563.4(PCK2):c.1436G>A (p.Arg479His)	not provided [RCV003009345]\|not specified [RCV004068417]	uncertain significance	14	24103223	24103223	Human		name
155912251	CV2141782	single nucleotide variant	NM_004563.4(PCK2):c.1502G>A (p.Arg501Gln)	not provided [RCV002979113]\|not specified [RCV004065109]	uncertain significance	14	24103543	24103543	Human		name
156223262	CV2144311	single nucleotide variant	NM_004563.4(PCK2):c.1342G>A (p.Ala448Thr)	not provided [RCV003007464]	uncertain significance	14	24102860	24102860	Human		name
156061139	CV2263101	single nucleotide variant	NM_004563.4(PCK2):c.1121T>C (p.Ile374Thr)	not specified [RCV004131347]	uncertain significance	14	24100100	24100100	Human		name
155997593	CV2287050	single nucleotide variant	NM_004563.4(PCK2):c.1792C>T (p.Leu598Phe)	not specified [RCV004144930]	uncertain significance	14	24103833	24103833	Human		name
156180362	CV2298454	single nucleotide variant	NM_004563.4(PCK2):c.1567G>A (p.Gly523Arg)	not specified [RCV004162124]	uncertain significance	14	24103608	24103608	Human		name
156161686	CV2323473	single nucleotide variant	NM_004563.4(PCK2):c.1525G>A (p.Gly509Arg)	not specified [RCV004165683]	uncertain significance	14	24103566	24103566	Human		name
156180521	CV2327743	single nucleotide variant	NM_004563.4(PCK2):c.1690G>C (p.Gly564Arg)	not specified [RCV004179095]	uncertain significance	14	24103731	24103731	Human		name
156075837	CV2331763	single nucleotide variant	NM_004563.4(PCK2):c.1360C>T (p.Arg454Cys)	not provided [RCV005099899]\|not specified [RCV004184387]	uncertain significance	14	24102878	24102878	Human		name
156329877	CV2342471	single nucleotide variant	NM_004563.4(PCK2):c.1615G>A (p.Glu539Lys)	not specified [RCV004194072]	uncertain significance	14	24103656	24103656	Human		name
156007007	CV2357841	single nucleotide variant	NM_004563.4(PCK2):c.1681C>T (p.Arg561Trp)	not specified [RCV004205125]	uncertain significance	14	24103722	24103722	Human		name
155909651	CV2359893	single nucleotide variant	NM_004563.4(PCK2):c.1583G>A (p.Arg528His)	not provided [RCV003699011]\|not specified [RCV004212744]	uncertain significance	14	24103624	24103624	Human		name
155934076	CV2372389	single nucleotide variant	NM_004563.4(PCK2):c.1019G>A (p.Arg340Gln)	not specified [RCV004217155]	uncertain significance	14	24099998	24099998	Human		name
156270403	CV2398675	single nucleotide variant	NM_004563.4(PCK2):c.1268G>A (p.Arg423Gln)	not specified [RCV004240023]	uncertain significance	14	24102786	24102786	Human		name
329367363	CV2427376	single nucleotide variant	NM_004563.4(PCK2):c.1421T>C (p.Val474Ala)	not specified [RCV004248232]	uncertain significance	14	24103208	24103208	Human		name
329380364	CV2444347	single nucleotide variant	NM_004563.4(PCK2):c.1546C>A (p.Leu516Met)	not provided [RCV003738394]\|not specified [RCV004263099]	uncertain significance	14	24103587	24103587	Human		name
329399598	CV2470196	single nucleotide variant	NM_004563.4(PCK2):c.1712C>T (p.Thr571Ile)	not specified [RCV004287435]	uncertain significance	14	24103753	24103753	Human		name
401722550	CV2677028	single nucleotide variant	NM_004563.4(PCK2):c.1054G>A (p.Gly352Arg)	not specified [RCV004293628]	uncertain significance	14	24100033	24100033	Human		name
401763077	CV2707485	single nucleotide variant	NM_004563.4(PCK2):c.1052T>A (p.Phe351Tyr)	not specified [RCV004312861]	uncertain significance	14	24100031	24100031	Human		name
401883751	CV2754971	single nucleotide variant	NM_004563.4(PCK2):c.1025G>A (p.Arg342Gln)	PCK2-related disorder [RCV003410357]\|not specified [RCV004341436]	uncertain significance	14	24100004	24100004	Human	1	name , trait , alternate_id
401890082	CV2762152	single nucleotide variant	NM_004563.4(PCK2):c.1501C>T (p.Arg501Trp)	not provided [RCV003575079]\|not specified [RCV004341966]	uncertain significance	14	24103542	24103542	Human		name
402503278	CV2869303	single nucleotide variant	NM_004563.4(PCK2):c.1658G>A (p.Arg553Gln)	not provided [RCV003546032]	uncertain significance	14	24103699	24103699	Human		name
405071932	CV2876354	single nucleotide variant	NM_004563.4(PCK2):c.1530C>G (p.His510Gln)	not provided [RCV003548449]	uncertain significance	14	24103571	24103571	Human		name
405148071	CV2881803	single nucleotide variant	NM_004563.4(PCK2):c.1906C>T (p.Arg636Cys)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV004813230]\|not provided [RCV003561520]\|not specified [RCV004654256]	uncertain significance	14	24103947	24103947	Human	1	name , alternate_id
405225487	CV2882061	single nucleotide variant	NM_004563.4(PCK2):c.1267C>T (p.Arg423Ter)	not provided [RCV003554582]	uncertain significance	14	24102785	24102785	Human		name
405156568	CV2890866	single nucleotide variant	NM_004563.4(PCK2):c.1553T>C (p.Met518Thr)	not provided [RCV003562095]	uncertain significance	14	24103594	24103594	Human		name
405163497	CV2895640	single nucleotide variant	NM_004563.4(PCK2):c.1610G>A (p.Arg537His)	not provided [RCV003562559]	uncertain significance	14	24103651	24103651	Human		name
405135405	CV3018645	single nucleotide variant	NM_004563.4(PCK2):c.1648G>T (p.Glu550Ter)	not provided [RCV003702059]	uncertain significance	14	24103689	24103689	Human		name
405132562	CV3021957	single nucleotide variant	NM_004563.4(PCK2):c.1795C>T (p.Pro599Ser)	PCK2-related disorder [RCV004756529]\|not provided [RCV003701803]	likely benign	14	24103836	24103836	Human	1	name , trait , alternate_id
405202667	CV3052664	single nucleotide variant	NM_004563.4(PCK2):c.1429G>A (p.Ala477Thr)	PCK2-related disorder [RCV004756538]\|not provided [RCV003730935]	uncertain significance	14	24103216	24103216	Human	1	name , trait , alternate_id
405129876	CV3054571	single nucleotide variant	NM_004563.4(PCK2):c.1799A>G (p.Lys600Arg)	not provided [RCV003724730]	uncertain significance	14	24103840	24103840	Human		name
405207427	CV3064585	single nucleotide variant	NM_004563.4(PCK2):c.1172T>C (p.Ile391Thr)	not provided [RCV003731515]\|not specified [RCV005392677]	uncertain significance	14	24100151	24100151	Human		name
405231469	CV3073575	single nucleotide variant	NM_004563.4(PCK2):c.1678C>T (p.Arg560Trp)	not provided [RCV003734913]	uncertain significance	14	24103719	24103719	Human		name
405005988	CV3120931	single nucleotide variant	NM_004563.4(PCK2):c.1745T>C (p.Leu582Ser)	not provided [RCV003828534]	uncertain significance	14	24103786	24103786	Human		name
405761290	CV3364639	single nucleotide variant	NM_004563.4(PCK2):c.1045G>A (p.Gly349Ser)	not specified [RCV004500654]	uncertain significance	14	24100024	24100024	Human		name
405761302	CV3364641	single nucleotide variant	NM_004563.4(PCK2):c.1250G>A (p.Cys417Tyr)	not specified [RCV004500656]	uncertain significance	14	24102768	24102768	Human		name
405761309	CV3364642	single nucleotide variant	NM_004563.4(PCK2):c.1457C>T (p.Ala486Val)	not specified [RCV004500657]	uncertain significance	14	24103244	24103244	Human		name
405761315	CV3364643	single nucleotide variant	NM_004563.4(PCK2):c.1482G>T (p.Met494Ile)	not specified [RCV004500658]	uncertain significance	14	24103523	24103523	Human		name
405761332	CV3364646	single nucleotide variant	NM_004563.4(PCK2):c.1765G>A (p.Ala589Thr)	not specified [RCV004500661]	uncertain significance	14	24103806	24103806	Human		name
405761340	CV3364647	single nucleotide variant	NM_004563.4(PCK2):c.1844C>A (p.Thr615Lys)	not specified [RCV004500662]	uncertain significance	14	24103885	24103885	Human		name
407426571	CV3410013	single nucleotide variant	NM_004563.4(PCK2):c.1612G>A (p.Asp538Asn)	not provided [RCV004585945]	uncertain significance	14	24103653	24103653	Human		name
407485053	CV3459941	single nucleotide variant	NM_004563.4(PCK2):c.1151G>A (p.Gly384Asp)	not specified [RCV004659563]	uncertain significance	14	24100130	24100130	Human		name
407483759	CV3459942	single nucleotide variant	NM_004563.4(PCK2):c.1008C>G (p.Asp336Glu)	not specified [RCV004653361]	uncertain significance	14	24099713	24099713	Human		name
597696837	CV3571761	single nucleotide variant	NM_004563.4(PCK2):c.1792C>A (p.Leu598Ile)	not specified [RCV004839258]	uncertain significance	14	24103833	24103833	Human		name
597696867	CV3571766	single nucleotide variant	NM_004563.4(PCK2):c.1616A>G (p.Glu539Gly)	not specified [RCV004839261]	uncertain significance	14	24103657	24103657	Human		name
597696893	CV3571769	single nucleotide variant	NM_004563.4(PCK2):c.1715C>T (p.Pro572Leu)	not provided [RCV005061508]\|not specified [RCV004839264]	uncertain significance	14	24103756	24103756	Human		name
597845555	CV3736347	single nucleotide variant	NM_004563.4(PCK2):c.1498A>G (p.Met500Val)	not provided [RCV005059925]	uncertain significance	14	24103539	24103539	Human		name
12840359	CV373817	single nucleotide variant	NM_004563.4(PCK2):c.1401C>G (p.Asn467Lys)	not provided [RCV000430553]	uncertain significance	14	24103188	24103188	Human		name
597886832	CV3741789	single nucleotide variant	NM_004563.4(PCK2):c.1705C>T (p.Arg569Ter)	not provided [RCV005070508]	uncertain significance	14	24103746	24103746	Human		name
12847461	CV374190	single nucleotide variant	NM_004563.4(PCK2):c.1405C>T (p.Arg469Cys)	PCK2-related disorder [RCV003972625]\|Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV003129857]\|not provided [RCV000443527]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	24103192	24103192	Human	1	name , trait , alternate_id
597950578	CV3759743	single nucleotide variant	NM_004563.4(PCK2):c.1561C>T (p.Arg521Cys)	not provided [RCV005079343]	uncertain significance	14	24103602	24103602	Human		name
597884868	CV3774200	single nucleotide variant	NM_004563.4(PCK2):c.1876G>C (p.Val626Leu)	not provided [RCV005109754]	uncertain significance	14	24103917	24103917	Human		name
597966065	CV3793897	single nucleotide variant	NM_004563.4(PCK2):c.1247C>T (p.Pro416Leu)	not provided [RCV005140279]	uncertain significance	14	24102765	24102765	Human		name
597878838	CV3813740	single nucleotide variant	NM_004563.4(PCK2):c.1286G>T (p.Arg429Leu)	not provided [RCV005149482]	uncertain significance	14	24102804	24102804	Human		name
597911869	CV3834162	single nucleotide variant	NM_004563.4(PCK2):c.1813C>T (p.Gln605Ter)	not provided [RCV005182924]	uncertain significance	14	24103854	24103854	Human		name
597963059	CV3841362	single nucleotide variant	NM_004563.4(PCK2):c.1267C>G (p.Arg423Gly)	not provided [RCV005193465]	uncertain significance	14	24102785	24102785	Human		name
598164542	CV4005912	single nucleotide variant	NM_004563.4(PCK2):c.1657C>T (p.Arg553Trp)	not specified [RCV005391173]	uncertain significance	14	24103698	24103698	Human		name
598195919	CV4005913	single nucleotide variant	NM_004563.4(PCK2):c.1736A>T (p.Glu579Val)	not specified [RCV005397611]	uncertain significance	14	24103777	24103777	Human		name
598208998	CV4007808	single nucleotide variant	NM_004563.4(PCK2):c.1018C>T (p.Arg340Ter)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV005400122]	uncertain significance	14	24099997	24099997	Human	1	name , alternate_id
13788253	CV550011	single nucleotide variant	NM_004563.4(PCK2):c.1216G>A (p.Gly406Ser)	not provided [RCV000676221]	benign	14	24100195	24100195	Human		name
13788263	CV550013	single nucleotide variant	NM_004563.4(PCK2):c.1438T>C (p.Ser480Pro)	not provided [RCV000676224]	uncertain significance	14	24103225	24103225	Human		name
13788271	CV550015	single nucleotide variant	NM_004563.4(PCK2):c.1562G>A (p.Arg521His)	not provided [RCV000676226]	benign	14	24103603	24103603	Human		name
14394295	CV609889	single nucleotide variant	NM_004563.4(PCK2):c.1447A>G (p.Thr483Ala)	not provided [RCV000757600]\|not specified [RCV004027151]	uncertain significance	14	24103234	24103234	Human		name
14394294	CV609890	single nucleotide variant	NM_004563.4(PCK2):c.1679G>A (p.Arg560Gln)	not provided [RCV000757599]	uncertain significance	14	24103720	24103720	Human		name
14393778	CV609891	single nucleotide variant	NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)	PCK2-related disorder [RCV003938134]\|Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV001335151]\|not provided [RCV001811462]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	24103797	24103797	Human	1	name , trait , alternate_id
15185485	CV702833	single nucleotide variant	NM_004563.4(PCK2):c.1024C>T (p.Arg342Trp)	not provided [RCV000952998]	likely benign	14	24100003	24100003	Human		name
15172596	CV714084	single nucleotide variant	NM_004563.4(PCK2):c.1682G>A (p.Arg561Gln)	not provided [RCV000972436]	benign	14	24103723	24103723	Human	4	name
15172596	CV714084	single nucleotide variant	NM_004563.4(PCK2):c.1682G>A (p.Arg561Gln)	not provided [RCV000972436]	benign	14	24103723	24103724	Human	4	name
41405095	CV981855	single nucleotide variant	NM_004563.4(PCK2):c.1079C>T (p.Thr360Ile)	PCK2-related disorder [RCV004756207]\|not provided [RCV001812389]\|not specified [RCV004035531]	uncertain significance	14	24100058	24100058	Human	1	name , trait , alternate_id
151857536	CV1503268	deletion	NM_004563.4(PCK2):c.706_707del (p.Leu236fs)	not provided [RCV001979711]	uncertain significance	14	24099090	24099091	Human		name
156371519	CV1905440	deletion	NM_004563.4(PCK2):c.303_309del (p.Val102fs)	not provided [RCV003092473]	uncertain significance	14	24098229	24098235	Human		name
597870329	CV3839383	microsatellite	NM_004563.4(PCK2):c.676_683del (p.Ser226fs)	not provided [RCV005176494]	uncertain significance	14	24099051	24099058	Human		name
13788233	CV550005	duplication	NM_004563.4(PCK2):c.451_452dup (p.Met152fs)	not provided [RCV000676215]	likely pathogenic	14	24098377	24098378	Human		name
156062048	CV2100065	insertion	NM_004563.4(PCK2):c.707_708insA (p.Ile237fs)	not provided [RCV002886542]	uncertain significance	14	24099091	24099092	Human		name
13788241	CV550008	insertion	NM_004563.4(PCK2):c.459_460insA (p.Gly154fs)	not provided [RCV000676218]	likely pathogenic	14	24098386	24098387	Human		name
151709972	CV1502052	indel	NM_004563.4(PCK2):c.898_899delinsAA (p.Ala300Asn)	not provided [RCV001907785]	uncertain significance	14	24099603	24099604	Human		name
152983195	CV1678026	insertion	NM_004563.4(PCK2):c.460_461insCTGTGGATGAGAG (p.Gly154fs)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial [RCV002250181]	pathogenic\|uncertain significance	14	24098386	24098387	Human	1	name , alternate_id

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message