Polr2a Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

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

413 records found for search term Polr2a

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150539053	CV1295005	single nucleotide variant	NM_000937.5(POLR2A):c.4492+1G>A	not provided [RCV001764966]	uncertain significance	17	7512345	7512345	Human		name
150551828	CV1298924	single nucleotide variant	NM_000937.5(POLR2A):c.1881+3A>G	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001754563]	likely pathogenic\|uncertain significance	17	7500851	7500851	Human	1	name
151233970	CV1317943	single nucleotide variant	NM_000937.5(POLR2A):c.538-42C>T	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001789578]\|not provided [RCV004710364]	benign	17	7496722	7496722	Human	1	name
153349129	CV1693697	single nucleotide variant	NM_000937.5(POLR2A):c.3466-3C>T	not provided [RCV002275521]	likely benign	17	7508941	7508941	Human		name
155643620	CV1707969	single nucleotide variant	NM_000937.5(POLR2A):c.2928+5G>A	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV002289430]	uncertain significance	17	7503297	7503297	Human	1	name
156225159	CV2226111	single nucleotide variant	NM_000937.5(POLR2A):c.3466-6T>G	Inborn genetic diseases [RCV002767294]	uncertain significance	17	7508938	7508938	Human	1	name
243059608	CV2413475	single nucleotide variant	NM_000937.5(POLR2A):c.3813+3A>G	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003135095]	uncertain significance	17	7509635	7509635	Human	1	name
401725679	CV2735929	single nucleotide variant	NM_000937.5(POLR2A):c.3918+5G>C	not provided [RCV003312373]	likely benign	17	7511324	7511324	Human		name
401733462	CV2736853	single nucleotide variant	NM_000937.5(POLR2A):c.1461-1G>C	not provided [RCV003313615]	uncertain significance	17	7499280	7499280	Human		name
401797557	CV2740996	single nucleotide variant	NM_000937.5(POLR2A):c.2573-3C>G	not provided [RCV003322160]	uncertain significance	17	7502515	7502515	Human		name
401913945	CV2814827	single nucleotide variant	NM_000937.5(POLR2A):c.2350-5C>T	not provided [RCV003428101]	likely benign	17	7501895	7501895	Human		name
405260891	CV3185963	single nucleotide variant	NM_000937.5(POLR2A):c.4101+8C>T	not provided [RCV003885039]	likely benign	17	7511596	7511596	Human		name
405280025	CV3191578	single nucleotide variant	NM_000937.5(POLR2A):c.3813+8G>A	POLR2A-related disorder [RCV003919726]	benign	17	7509640	7509640	Human		name , trait , alternate_id
408394014	CV3526328	single nucleotide variant	NM_000937.5(POLR2A):c.3712+4A>G	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004771760]	uncertain significance	17	7509194	7509194	Human	1	name
596922335	CV3537060	single nucleotide variant	NM_000937.5(POLR2A):c.4606+4A>G	not provided [RCV004786055]	uncertain significance	17	7512594	7512594	Human		name
596922841	CV3537426	duplication	NM_000937.5(POLR2A):c.1202+2dup	not provided [RCV004787396]	uncertain significance	17	7497871	7497872	Human		name
15151977	CV760653	single nucleotide variant	NM_000937.5(POLR2A):c.4606+9C>T	not provided [RCV000923781]	likely benign	17	7512599	7512599	Human		name
151233972	CV1317944	single nucleotide variant	NM_000937.5(POLR2A):c.1461-44G>A	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001789579]\|not provided [RCV004710365]	benign	17	7499237	7499237	Human	1	name
151233973	CV1317945	single nucleotide variant	NM_000937.5(POLR2A):c.1672-16A>C	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001789580]\|not provided [RCV004710366]	benign	17	7500623	7500623	Human	2	name
151233974	CV1317946	single nucleotide variant	NM_000937.5(POLR2A):c.1881+42G>A	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001789581]\|not provided [RCV004710367]	benign	17	7500890	7500890	Human	1	name
151233977	CV1317948	single nucleotide variant	NM_000937.5(POLR2A):c.2349+26C>T	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001789583]\|not provided [RCV004710369]	benign	17	7501755	7501755	Human	1	name
405273188	CV3216834	microsatellite	NM_000937.5(POLR2A):c.94-16CTTT[2]	POLR2A-related disorder [RCV003972323]	benign	17	7495925	7495928	Human		name , trait , alternate_id
405278121	CV3221715	microsatellite	NM_000937.5(POLR2A):c.4607-15TC[2]	POLR2A-related disorder [RCV003976310]	likely benign	17	7512759	7512760	Human		name , trait , alternate_id
407455840	CV3415760	single nucleotide variant	NM_000937.5(POLR2A):c.6C>T (p.His2=)	not provided [RCV004598636]	likely benign	17	7484770	7484770	Human		name
596938609	CV3549661	single nucleotide variant	NM_000937.5(POLR2A):c.6C>G (p.His2Gln)	not provided [RCV004812701]	uncertain significance	17	7484770	7484770	Human		name
150532388	CV1299750	deletion	NM_000937.5(POLR2A):c.3814-11_3814-8del	not provided [RCV001752676]	uncertain significance	17	7511203	7511206	Human		name
405284514	CV3196882	single nucleotide variant	NM_000937.5(POLR2A):c.153C>T (p.Arg51=)	POLR2A-related disorder [RCV003979743]	benign	17	7496000	7496000	Human		name , trait , alternate_id
407481683	CV3460974	single nucleotide variant	NM_000937.5(POLR2A):c.20C>T (p.Pro7Leu)	Inborn genetic diseases [RCV004664658]	uncertain significance	17	7484784	7484784	Human	1	name
15014796	CV678115	variation	NM_000937.5(POLR2A):c.2292= (p.Asn764=)	Gemcitabine response [RCV000851367]	drug response	17	7501672	7501672	Human		name
15181349	CV715699	single nucleotide variant	NM_000937.5(POLR2A):c.180G>T (p.Pro60=)	not provided [RCV000974371]	likely benign	17	7496027	7496027	Human		name
150449079	CV1215063	single nucleotide variant	NM_000937.5(POLR2A):c.960T>C (p.Asn320=)	POLR2A-related disorder [RCV003983998]\|not provided [RCV001611652]	benign	17	7497496	7497496	Human	1	name , trait , alternate_id
152999994	CV1682805	single nucleotide variant	NM_000937.5(POLR2A):c.85G>C (p.Asp29His)	See cases [RCV002252815]	uncertain significance	17	7484849	7484849	Human		name
243050625	CV2413474	single nucleotide variant	NM_000937.5(POLR2A):c.69C>G (p.Phe23Leu)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003130295]	uncertain significance	17	7484833	7484833	Human	1	name
401725676	CV2735928	single nucleotide variant	NM_000937.5(POLR2A):c.492C>T (p.Phe164=)	not provided [RCV003312372]	likely benign	17	7496568	7496568	Human		name
401798512	CV2739327	single nucleotide variant	NM_000937.5(POLR2A):c.66G>T (p.Gln22His)	not provided [RCV003318975]	uncertain significance	17	7484830	7484830	Human		name
401828682	CV2743017	single nucleotide variant	NM_000937.5(POLR2A):c.83C>T (p.Pro28Leu)	Inborn genetic diseases [RCV004961263]\|not provided [RCV003325725]	uncertain significance	17	7484847	7484847	Human	1	name
401913938	CV2814816	single nucleotide variant	NM_000937.5(POLR2A):c.60A>C (p.Arg20Ser)	not provided [RCV003428098]	uncertain significance	17	7484824	7484824	Human		name
401903743	CV2814817	single nucleotide variant	NM_000937.5(POLR2A):c.435C>T (p.Tyr145=)	not provided [RCV003419603]	likely benign	17	7496511	7496511	Human		name
401903746	CV2814819	single nucleotide variant	NM_000937.5(POLR2A):c.684C>T (p.Ile228=)	not provided [RCV003419604]	likely benign	17	7496910	7496910	Human		name
405284203	CV3196637	single nucleotide variant	NM_000937.5(POLR2A):c.471G>A (p.Gly157=)	POLR2A-related disorder [RCV003979547]	benign	17	7496547	7496547	Human		name , trait , alternate_id
405276705	CV3198586	single nucleotide variant	NM_000937.5(POLR2A):c.849C>T (p.Ile283=)	POLR2A-related disorder [RCV003903914]	benign	17	7497385	7497385	Human		name , trait , alternate_id
405659441	CV3373536	single nucleotide variant	NM_000937.5(POLR2A):c.56A>G (p.Lys19Arg)	Inborn genetic diseases [RCV004512397]	uncertain significance	17	7484820	7484820	Human	1	name
597692767	CV3583971	single nucleotide variant	NM_000937.5(POLR2A):c.46C>A (p.Arg16Ser)	Inborn genetic diseases [RCV004954389]	uncertain significance	17	7484810	7484810	Human	1	name
616939884	CV4014399	single nucleotide variant	NM_000937.5(POLR2A):c.633G>A (p.Glu211=)	not provided [RCV005413893]	likely benign	17	7496859	7496859	Human		name
40888524	CV861265	single nucleotide variant	NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001263526]	likely pathogenic\|uncertain significance	17	7484847	7484847	Human	1	name
40888528	CV861266	single nucleotide variant	NM_000937.5(POLR2A):c.89A>T (p.Glu30Val)	not specified [RCV001263530]	likely benign	17	7484853	7484853	Human		name
150460217	CV1236215	single nucleotide variant	NM_000937.5(POLR2A):c.1461T>C (p.Ser487=)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001789467]\|not provided [RCV001649186]	benign	17	7499281	7499281	Human	1	name
150528897	CV1288552	single nucleotide variant	NM_000937.5(POLR2A):c.1932T>C (p.Ser644=)	not provided [RCV001727020]	likely benign	17	7500990	7500990	Human		name
151233976	CV1317947	single nucleotide variant	NM_000937.5(POLR2A):c.2292T>C (p.Asn764=)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001789582]\|not provided [RCV004710368]	benign	17	7501672	7501672	Human	1	name
153304803	CV1687249	single nucleotide variant	NM_000937.5(POLR2A):c.2376C>T (p.Asn792=)	not provided [RCV002263067]	likely benign	17	7501926	7501926	Human		name
401723259	CV2737802	single nucleotide variant	NM_000937.5(POLR2A):c.289G>T (p.Val97Leu)	not provided [RCV003314974]	uncertain significance	17	7496272	7496272	Human		name
401799044	CV2741620	single nucleotide variant	NM_000937.5(POLR2A):c.164G>C (p.Gly55Ala)	not provided [RCV003323028]	uncertain significance	17	7496011	7496011	Human		name
401830753	CV2748401	single nucleotide variant	NM_000937.5(POLR2A):c.170T>C (p.Leu57Pro)	not provided [RCV003330010]	uncertain significance	17	7496017	7496017	Human		name
401926361	CV2800970	single nucleotide variant	NM_000937.5(POLR2A):c.152G>A (p.Arg51His)	POLR2A-related disorder [RCV003405924]	uncertain significance	17	7495999	7495999	Human		name , trait , alternate_id
401903749	CV2814822	single nucleotide variant	NM_000937.5(POLR2A):c.1023G>A (p.Gln341=)	not provided [RCV003419606]	benign	17	7497691	7497691	Human		name
401903751	CV2814824	single nucleotide variant	NM_000937.5(POLR2A):c.1173G>A (p.Ala391=)	not provided [RCV003419607]	likely benign	17	7497841	7497841	Human		name
401935655	CV2814825	single nucleotide variant	NM_000937.5(POLR2A):c.1704G>A (p.Ser568=)	not provided [RCV003413114]	likely benign	17	7500671	7500671	Human		name
401935656	CV2814826	single nucleotide variant	NM_000937.5(POLR2A):c.1956G>A (p.Leu652=)	not provided [RCV003413115]	uncertain significance	17	7501014	7501014	Human		name
405227266	CV2963513	single nucleotide variant	NM_000937.5(POLR2A):c.2895G>A (p.Val965=)	not provided [RCV003681637]	likely benign\|uncertain significance	17	7503259	7503259	Human		name
405265411	CV3185635	single nucleotide variant	NM_000937.5(POLR2A):c.1245C>T (p.Gly415=)	not provided [RCV003886199]	likely benign	17	7498120	7498120	Human		name
405265550	CV3185746	single nucleotide variant	NM_000937.5(POLR2A):c.2559G>A (p.Lys853=)	not provided [RCV003886310]	likely benign	17	7502109	7502109	Human		name
405260471	CV3185769	single nucleotide variant	NM_000937.5(POLR2A):c.1473G>A (p.Pro491=)	not provided [RCV003884845]	likely benign	17	7499293	7499293	Human		name
405260474	CV3185770	single nucleotide variant	NM_000937.5(POLR2A):c.2163C>T (p.His721=)	not provided [RCV003884846]	likely benign	17	7501543	7501543	Human		name
405283563	CV3217137	single nucleotide variant	NM_000937.5(POLR2A):c.2673C>T (p.Tyr891=)	POLR2A-related disorder [RCV003979249]	benign	17	7502618	7502618	Human		name , trait , alternate_id
405659391	CV3373523	single nucleotide variant	NM_000937.5(POLR2A):c.137C>T (p.Thr46Met)	Inborn genetic diseases [RCV004512384]	uncertain significance	17	7495984	7495984	Human	1	name
405853070	CV3393501	single nucleotide variant	NM_000937.5(POLR2A):c.2094T>G (p.Thr698=)	not provided [RCV004546231]	likely benign	17	7501332	7501332	Human		name
405853769	CV3395194	single nucleotide variant	NM_000937.5(POLR2A):c.206G>T (p.Gly69Val)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004555336]	uncertain significance	17	7496053	7496053	Human	1	name
407425162	CV3409384	single nucleotide variant	NM_000937.5(POLR2A):c.1194C>T (p.Asn398=)	not provided [RCV004585315]	likely benign	17	7497862	7497862	Human		name
407425253	CV3409412	single nucleotide variant	NM_000937.5(POLR2A):c.1707G>A (p.Thr569=)	not provided [RCV004585343]	likely benign	17	7500674	7500674	Human		name
408377963	CV3500891	single nucleotide variant	NM_000937.5(POLR2A):c.1663C>T (p.Leu555=)	not provided [RCV004722541]	likely benign	17	7499483	7499483	Human		name
408380682	CV3523628	single nucleotide variant	NM_000937.5(POLR2A):c.205G>T (p.Gly69Cys)	not provided [RCV004766026]	uncertain significance	17	7496052	7496052	Human		name
596929893	CV3531221	single nucleotide variant	NM_000937.5(POLR2A):c.160C>T (p.Leu54Phe)	not provided [RCV004779795]	uncertain significance	17	7496007	7496007	Human		name
596946486	CV3548308	single nucleotide variant	NM_000937.5(POLR2A):c.1782C>T (p.Leu594=)	not provided [RCV004810133]	likely benign	17	7500749	7500749	Human		name
596946565	CV3548389	single nucleotide variant	NM_000937.5(POLR2A):c.2208G>A (p.Thr736=)	not provided [RCV004810215]	likely benign	17	7501588	7501588	Human		name
596946088	CV3550373	single nucleotide variant	NM_000937.5(POLR2A):c.209G>A (p.Arg70His)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004818914]	uncertain significance	17	7496056	7496056	Human	1	name
597692817	CV3583979	single nucleotide variant	NM_000937.5(POLR2A):c.101T>C (p.Met34Thr)	Inborn genetic diseases [RCV004954396]	uncertain significance	17	7495948	7495948	Human	1	name
597692823	CV3583980	single nucleotide variant	NM_000937.5(POLR2A):c.164G>T (p.Gly55Val)	Inborn genetic diseases [RCV004954397]	uncertain significance	17	7496011	7496011	Human	1	name
597692845	CV3583983	single nucleotide variant	NM_000937.5(POLR2A):c.1311C>T (p.Asp437=)	Inborn genetic diseases [RCV004954400]	likely benign	17	7498186	7498186	Human	1	name
597656785	CV3731610	single nucleotide variant	NM_000937.5(POLR2A):c.146G>T (p.Gly49Val)	not provided [RCV005001791]	uncertain significance	17	7495993	7495993	Human		name
598127901	CV3888369	single nucleotide variant	NM_000937.5(POLR2A):c.1449C>T (p.Arg483=)	not provided [RCV005243055]	likely benign	17	7499152	7499152	Human		name
8636370	CV91593	single nucleotide variant	NM_000937.4(POLR2A):c.2907C>T (p.Ile969=)	Malignant melanoma [RCV000071691]	not provided	17	7503271	7503271	Human		name
150512732	CV1228822	single nucleotide variant	NM_000937.5(POLR2A):c.3606T>C (p.Phe1202=)	POLR2A-related disorder [RCV003968415]\|not provided [RCV001637663]	benign	17	7509084	7509084	Human	1	name , trait , alternate_id
150482670	CV1261657	single nucleotide variant	NM_000937.5(POLR2A):c.3441C>T (p.Ser1147=)	POLR2A-related disorder [RCV003975934]\|not provided [RCV001686260]	benign	17	7508451	7508451	Human	1	name , trait , alternate_id
152999711	CV1683279	single nucleotide variant	NM_000937.5(POLR2A):c.688G>T (p.Asp230Tyr)	See cases [RCV002252463]	uncertain significance	17	7496914	7496914	Human		name
153304805	CV1687251	single nucleotide variant	NM_000937.5(POLR2A):c.3363G>T (p.Val1121=)	not provided [RCV002263069]	likely benign	17	7508373	7508373	Human		name
153304806	CV1687252	single nucleotide variant	NM_000937.5(POLR2A):c.3855G>A (p.Leu1285=)	not provided [RCV002263070]	likely benign	17	7511256	7511256	Human		name
153346854	CV1694238	single nucleotide variant	NM_000937.5(POLR2A):c.381G>C (p.Lys127Asn)	Neurodevelopmental disorder [RCV002277654]	uncertain significance	17	7496457	7496457	Human	1	name
155265564	CV1695708	single nucleotide variant	NM_000937.5(POLR2A):c.832C>T (p.His278Tyr)	not provided [RCV002280439]	uncertain significance	17	7497368	7497368	Human		name
155266235	CV1699678	single nucleotide variant	NM_000937.5(POLR2A):c.680G>A (p.Arg227His)	not specified [RCV002281779]	uncertain significance	17	7496906	7496906	Human		name
155642698	CV1706360	single nucleotide variant	NM_000937.5(POLR2A):c.778G>A (p.Val260Met)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV002287216]	likely pathogenic	17	7497004	7497004	Human	1	name
155715267	CV1780380	single nucleotide variant	NM_000937.5(POLR2A):c.517G>C (p.Glu173Gln)	not provided [RCV002305984]	uncertain significance	17	7496593	7496593	Human		name
155796339	CV1859054	single nucleotide variant	NM_000937.5(POLR2A):c.481G>A (p.Asp161Asn)	Inborn genetic diseases [RCV003382886]\|not provided [RCV002464682]	uncertain significance	17	7496557	7496557	Human	1	name
155797090	CV1859232	single nucleotide variant	NM_000937.5(POLR2A):c.706C>G (p.Leu236Val)	not provided [RCV002464860]	likely pathogenic	17	7496932	7496932	Human		name
156090203	CV2206567	single nucleotide variant	NM_000937.5(POLR2A):c.808G>A (p.Ala270Thr)	Inborn genetic diseases [RCV002661308]\|Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004725569]	likely benign\|uncertain significance	17	7497034	7497034	Human	2	name
243057835	CV2408078	single nucleotide variant	NM_000937.5(POLR2A):c.628C>T (p.Gln210Ter)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003133687]\|not provided [RCV004775349]	likely pathogenic\|uncertain significance	17	7496854	7496854	Human	1	name
243050429	CV2415425	single nucleotide variant	NM_000937.5(POLR2A):c.847A>G (p.Ile283Val)	Inborn genetic diseases [RCV003164867]\|Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003147957]	uncertain significance	17	7497383	7497383	Human	2	name
329350294	CV2421630	single nucleotide variant	NM_000937.5(POLR2A):c.504A>C (p.Gln168His)	not provided [RCV003159332]	uncertain significance	17	7496580	7496580	Human		name
401771078	CV2726355	single nucleotide variant	NM_000937.5(POLR2A):c.811C>T (p.Arg271Cys)	Inborn genetic diseases [RCV003304238]	likely benign	17	7497037	7497037	Human	1	name
401725682	CV2735930	single nucleotide variant	NM_000937.5(POLR2A):c.5238G>A (p.Pro1746=)	not provided [RCV003312374]	likely benign	17	7513502	7513502	Human		name
401829392	CV2743778	single nucleotide variant	NM_000937.5(POLR2A):c.5061C>T (p.Pro1687=)	not provided [RCV003326954]	likely benign	17	7513325	7513325	Human		name
401873481	CV2749763	single nucleotide variant	NM_000937.5(POLR2A):c.383A>C (p.Asp128Ala)	not provided [RCV003332892]	uncertain significance	17	7496459	7496459	Human		name
401860529	CV2794421	single nucleotide variant	NM_000937.5(POLR2A):c.742A>T (p.Met248Leu)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003387589]	likely pathogenic	17	7496968	7496968	Human	1	name
401935654	CV2814818	single nucleotide variant	NM_000937.5(POLR2A):c.575G>T (p.Arg192Leu)	not provided [RCV003413113]	uncertain significance	17	7496801	7496801	Human		name
401903748	CV2814820	single nucleotide variant	NM_000937.5(POLR2A):c.721C>T (p.Arg241Cys)	Inborn genetic diseases [RCV004364546]\|not provided [RCV003419605]	uncertain significance	17	7496947	7496947	Human	1	name
401913941	CV2814821	single nucleotide variant	NM_000937.5(POLR2A):c.980G>A (p.Arg327His)	not provided [RCV003428099]	uncertain significance	17	7497516	7497516	Human		name
401935657	CV2814828	single nucleotide variant	NM_000937.5(POLR2A):c.3018C>T (p.Pro1006=)	POLR2A-related disorder [RCV003966373]\|not provided [RCV003413116]	benign\|likely benign	17	7503474	7503474	Human	1	name , trait , alternate_id
401935658	CV2814829	single nucleotide variant	NM_000937.5(POLR2A):c.3114G>A (p.Thr1038=)	not provided [RCV003413117]	likely benign	17	7503665	7503665	Human		name
401913948	CV2814830	single nucleotide variant	NM_000937.5(POLR2A):c.3165A>G (p.Ala1055=)	not provided [RCV003428102]	likely benign	17	7503716	7503716	Human		name
401935659	CV2814832	single nucleotide variant	NM_000937.5(POLR2A):c.4152C>T (p.His1384=)	not provided [RCV003413118]	likely benign	17	7511861	7511861	Human		name
401935660	CV2814833	single nucleotide variant	NM_000937.5(POLR2A):c.4233G>A (p.Leu1411=)	not provided [RCV003413119]	likely benign	17	7511942	7511942	Human		name
401913951	CV2814834	single nucleotide variant	NM_000937.5(POLR2A):c.4395G>A (p.Pro1465=)	not provided [RCV003428103]	likely benign	17	7512247	7512247	Human		name
401903755	CV2814835	single nucleotide variant	NM_000937.5(POLR2A):c.4929T>C (p.Tyr1643=)	not provided [RCV003419609]	likely benign	17	7513193	7513193	Human		name
401935661	CV2814836	single nucleotide variant	NM_000937.5(POLR2A):c.4974A>G (p.Ser1658=)	not provided [RCV003413120]	likely benign	17	7513238	7513238	Human		name
401935663	CV2814839	single nucleotide variant	NM_000937.5(POLR2A):c.5037A>G (p.Ser1679=)	not provided [RCV003413122]	likely benign	17	7513301	7513301	Human		name
401903758	CV2814840	single nucleotide variant	NM_000937.5(POLR2A):c.5082A>G (p.Pro1694=)	not provided [RCV003419611]	likely benign	17	7513346	7513346	Human		name
401935664	CV2814842	single nucleotide variant	NM_000937.5(POLR2A):c.5400C>A (p.Thr1800=)	not provided [RCV003413123]	likely benign	17	7513664	7513664	Human		name
401935665	CV2814843	single nucleotide variant	NM_000937.5(POLR2A):c.5538C>T (p.Tyr1846=)	not provided [RCV003413124]	likely benign	17	7513804	7513804	Human		name
401946393	CV2839726	single nucleotide variant	NM_000937.5(POLR2A):c.493G>A (p.Gly165Ser)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003459009]	uncertain significance	17	7496569	7496569	Human	1	name
401943795	CV2840199	single nucleotide variant	NM_000937.5(POLR2A):c.812G>A (p.Arg271His)	not provided [RCV003456965]	uncertain significance	17	7497038	7497038	Human		name
405265077	CV3185471	single nucleotide variant	NM_000937.5(POLR2A):c.5370C>T (p.Tyr1790=)	not provided [RCV003886035]	likely benign	17	7513634	7513634	Human		name
405265079	CV3185472	single nucleotide variant	NM_000937.5(POLR2A):c.5373T>C (p.Ser1791=)	not provided [RCV003886036]	likely benign	17	7513637	7513637	Human		name
405265398	CV3185624	single nucleotide variant	NM_000937.5(POLR2A):c.4932G>A (p.Ser1644=)	not provided [RCV003886188]	likely benign	17	7513196	7513196	Human		name
405265496	CV3185712	single nucleotide variant	NM_000937.5(POLR2A):c.5397G>A (p.Pro1799=)	not provided [RCV003886276]	likely benign	17	7513661	7513661	Human		name
405260955	CV3185990	single nucleotide variant	NM_000937.5(POLR2A):c.5790C>T (p.Tyr1930=)	not provided [RCV003885066]	likely benign	17	7514056	7514056	Human		name
405259701	CV3186384	single nucleotide variant	NM_000937.5(POLR2A):c.3144G>A (p.Thr1048=)	not provided [RCV003884143]	likely benign	17	7503695	7503695	Human		name
405292403	CV3192411	single nucleotide variant	NM_000937.5(POLR2A):c.3015C>T (p.His1005=)	POLR2A-related disorder [RCV003929678]	likely benign	17	7503471	7503471	Human		name , trait , alternate_id
405276238	CV3199612	single nucleotide variant	NM_000937.5(POLR2A):c.3552G>A (p.Thr1184=)	POLR2A-related disorder [RCV003917001]	benign	17	7509030	7509030	Human		name , trait , alternate_id
405274250	CV3211604	single nucleotide variant	NM_000937.5(POLR2A):c.3732C>T (p.Asn1244=)	POLR2A-related disorder [RCV003951431]\|not provided [RCV004721783]	benign\|likely benign	17	7509551	7509551	Human	1	name , trait , alternate_id
405283125	CV3218433	single nucleotide variant	NM_000937.5(POLR2A):c.5301C>G (p.Pro1767=)	POLR2A-related disorder [RCV003957235]	likely benign	17	7513565	7513565	Human		name , trait , alternate_id
405266129	CV3221050	single nucleotide variant	NM_000937.5(POLR2A):c.5625G>A (p.Ser1875=)	POLR2A-related disorder [RCV003969181]	benign	17	7513891	7513891	Human		name , trait , alternate_id
405707611	CV3225402	single nucleotide variant	NM_000937.5(POLR2A):c.575G>A (p.Arg192Gln)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003990456]	uncertain significance	17	7496801	7496801	Human	1	name
405659403	CV3373526	single nucleotide variant	NM_000937.5(POLR2A):c.312G>T (p.Met104Ile)	Inborn genetic diseases [RCV004512387]	uncertain significance	17	7496295	7496295	Human	1	name
405659409	CV3373528	single nucleotide variant	NM_000937.5(POLR2A):c.335T>G (p.Phe112Cys)	Inborn genetic diseases [RCV004512389]	likely benign	17	7496318	7496318	Human	1	name
405659416	CV3373530	single nucleotide variant	NM_000937.5(POLR2A):c.391G>T (p.Ala131Ser)	Inborn genetic diseases [RCV004512391]	likely benign	17	7496467	7496467	Human	1	name
405659446	CV3373537	single nucleotide variant	NM_000937.5(POLR2A):c.959A>G (p.Asn320Ser)	Inborn genetic diseases [RCV004512398]	uncertain significance	17	7497495	7497495	Human	1	name
405853092	CV3393523	single nucleotide variant	NM_000937.5(POLR2A):c.3192C>T (p.Ala1064=)	not provided [RCV004546253]	likely benign	17	7503743	7503743	Human		name
405854450	CV3393924	single nucleotide variant	NM_000937.5(POLR2A):c.730C>T (p.Arg244Trp)	not provided [RCV004547150]	uncertain significance	17	7496956	7496956	Human		name
405855121	CV3395719	single nucleotide variant	NM_000937.5(POLR2A):c.430G>T (p.Val144Phe)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004555982]	uncertain significance	17	7496506	7496506	Human	1	name
407428262	CV3410150	single nucleotide variant	NM_000937.5(POLR2A):c.997G>A (p.Gly333Arg)	not specified [RCV004587757]	uncertain significance	17	7497665	7497665	Human		name
407424832	CV3410973	single nucleotide variant	NM_000937.5(POLR2A):c.641T>A (p.Ile214Asn)	not provided [RCV004588663]	uncertain significance	17	7496867	7496867	Human		name
407525087	CV3460978	single nucleotide variant	NM_000937.5(POLR2A):c.833A>T (p.His278Leu)	Inborn genetic diseases [RCV004653924]	uncertain significance	17	7497369	7497369	Human	1	name
407525088	CV3460979	single nucleotide variant	NM_000937.5(POLR2A):c.863A>G (p.Asn288Ser)	Inborn genetic diseases [RCV004653925]	uncertain significance	17	7497399	7497399	Human	1	name
408377922	CV3500875	single nucleotide variant	NM_000937.5(POLR2A):c.3495G>A (p.Thr1165=)	not provided [RCV004722525]	likely benign	17	7508973	7508973	Human		name
408381415	CV3501888	single nucleotide variant	NM_000937.5(POLR2A):c.475G>A (p.Glu159Lys)	not provided [RCV004729416]	uncertain significance	17	7496551	7496551	Human		name
408389822	CV3519062	single nucleotide variant	NM_000937.5(POLR2A):c.610C>T (p.His204Tyr)	not provided [RCV004762371]	uncertain significance	17	7496836	7496836	Human		name
408383617	CV3519967	single nucleotide variant	NM_000937.5(POLR2A):c.407A>T (p.Gln136Leu)	not provided [RCV004759788]	uncertain significance	17	7496483	7496483	Human		name
408385469	CV3528522	single nucleotide variant	NM_000937.5(POLR2A):c.961G>A (p.Glu321Lys)	not provided [RCV004772354]	uncertain significance	17	7497497	7497497	Human		name
408389217	CV3529274	single nucleotide variant	NM_000937.5(POLR2A):c.835A>G (p.Lys279Glu)	not provided [RCV004774096]	uncertain significance	17	7497371	7497371	Human		name
596922994	CV3530204	single nucleotide variant	NM_000937.5(POLR2A):c.738G>T (p.Glu246Asp)	not provided [RCV004776803]	uncertain significance	17	7496964	7496964	Human		name
596921674	CV3535296	single nucleotide variant	NM_000937.5(POLR2A):c.577C>G (p.Arg193Gly)	not provided [RCV004784855]	uncertain significance	17	7496803	7496803	Human		name
596921914	CV3535543	single nucleotide variant	NM_000937.5(POLR2A):c.679C>T (p.Arg227Cys)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004785098]	uncertain significance	17	7496905	7496905	Human	1	name
596945245	CV3547758	single nucleotide variant	NM_000937.5(POLR2A):c.4842T>G (p.Ser1614=)	not provided [RCV004809089]	likely benign	17	7513106	7513106	Human		name
597692776	CV3583972	single nucleotide variant	NM_000937.5(POLR2A):c.722G>A (p.Arg241His)	Inborn genetic diseases [RCV004954390]	uncertain significance	17	7496948	7496948	Human	1	name
597692811	CV3583978	single nucleotide variant	NM_000937.5(POLR2A):c.666T>G (p.His222Gln)	Inborn genetic diseases [RCV004954395]	uncertain significance	17	7496892	7496892	Human	1	name
597964848	CV3796983	duplication	NM_000937.5(POLR2A):c.1524dup (p.Leu509fs)	not provided [RCV005139943]	pathogenic	17	7499343	7499344	Human		name
598126420	CV3881906	single nucleotide variant	NM_000937.5(POLR2A):c.811C>G (p.Arg271Gly)	not provided [RCV005233458]	uncertain significance	17	7497037	7497037	Human		name
598127897	CV3882950	duplication	NM_000937.5(POLR2A):c.2173dup (p.Leu725fs)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV005234483]	likely pathogenic	17	7501552	7501553	Human	1	name
598124952	CV3885493	single nucleotide variant	NM_000937.5(POLR2A):c.3046T>C (p.Leu1016=)	not specified [RCV005240071]	likely benign	17	7503597	7503597	Human		name
598128428	CV3887633	single nucleotide variant	NM_000937.5(POLR2A):c.3243G>A (p.Ala1081=)	not provided [RCV005243806]	likely benign	17	7508253	7508253	Human		name
598237270	CV3893424	single nucleotide variant	NM_000937.5(POLR2A):c.485A>G (p.Asn162Ser)	not provided [RCV005256157]	uncertain significance	17	7496561	7496561	Human		name
598246111	CV3907647	single nucleotide variant	NM_000937.5(POLR2A):c.509A>T (p.Glu170Val)	Inborn genetic diseases [RCV005258440]	likely benign	17	7496585	7496585	Human	1	name
598246135	CV3907651	single nucleotide variant	NM_000937.5(POLR2A):c.380A>G (p.Lys127Arg)	Inborn genetic diseases [RCV005258444]	uncertain significance	17	7496456	7496456	Human	1	name
598246144	CV3907653	single nucleotide variant	NM_000937.5(POLR2A):c.626C>G (p.Ser209Cys)	Inborn genetic diseases [RCV005258446]	uncertain significance	17	7496852	7496852	Human	1	name
15161942	CV704369	single nucleotide variant	NM_000937.5(POLR2A):c.5016G>A (p.Ser1672=)	POLR2A-related disorder [RCV003978170]\|not provided [RCV000947764]	benign\|likely benign	17	7513280	7513280	Human	1	name , trait , alternate_id
15180322	CV727422	single nucleotide variant	NM_000937.5(POLR2A):c.4995G>A (p.Ser1665=)	not provided [RCV000885500]	benign\|likely benign	17	7513259	7513259	Human		name
15179506	CV741020	single nucleotide variant	NM_000937.5(POLR2A):c.4062C>T (p.Pro1354=)	not provided [RCV000907127]	benign\|likely benign	17	7511549	7511549	Human		name
15200963	CV756114	single nucleotide variant	NM_000937.5(POLR2A):c.5007C>T (p.Pro1669=)	not provided [RCV000912999]	likely benign	17	7513271	7513271	Human		name
40888525	CV861267	single nucleotide variant	NM_000937.5(POLR2A):c.323G>A (p.Arg108His)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001263527]\|not provided [RCV002223268]	likely pathogenic\|uncertain significance	17	7496306	7496306	Human	1	name
40888526	CV861268	single nucleotide variant	NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001263528]	likely pathogenic\|uncertain significance	17	7496494	7496494	Human	1	name
126727879	CV1018362	single nucleotide variant	NM_000937.5(POLR2A):c.2689G>A (p.Ala897Thr)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001332616]	uncertain significance	17	7502634	7502634	Human	1	name
150407296	CV1192004	single nucleotide variant	NM_000937.5(POLR2A):c.2165A>G (p.Asn722Ser)	Inborn genetic diseases [RCV004952985]\|Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003458724]\|not provided [RCV001564974]	pathogenic\|likely pathogenic\|uncertain significance	17	7501545	7501545	Human	2	name
150458506	CV1275347	single nucleotide variant	NM_000937.5(POLR2A):c.2266G>A (p.Ala756Thr)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001706861]	uncertain significance	17	7501646	7501646	Human	1	name
150551040	CV1292432	single nucleotide variant	NM_000937.5(POLR2A):c.2383G>A (p.Gly795Ser)	not provided [RCV001754039]	uncertain significance	17	7501933	7501933	Human		name
150554332	CV1295754	single nucleotide variant	NM_000937.5(POLR2A):c.2500A>G (p.Thr834Ala)	not provided [RCV001770984]	uncertain significance	17	7502050	7502050	Human		name
150550209	CV1300119	single nucleotide variant	NM_000937.5(POLR2A):c.1114A>G (p.Asn372Asp)	not provided [RCV001765589]	uncertain significance	17	7497782	7497782	Human		name
150542163	CV1302513	single nucleotide variant	NM_000937.5(POLR2A):c.2021C>G (p.Thr674Ser)	not provided [RCV001761203]	uncertain significance	17	7501079	7501079	Human		name
150555510	CV1304649	single nucleotide variant	NM_000937.5(POLR2A):c.2482C>A (p.Leu828Ile)	not provided [RCV001772897]	uncertain significance	17	7502032	7502032	Human		name
150534663	CV1311517	single nucleotide variant	NM_000937.5(POLR2A):c.1832A>T (p.Asp611Val)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001779363]	uncertain significance	17	7500799	7500799	Human	1	name
150536054	CV1312244	single nucleotide variant	NM_000937.5(POLR2A):c.2732C>T (p.Pro911Leu)	Neurodevelopmental disorder [RCV001780006]	uncertain significance	17	7502677	7502677	Human	1	name
151716812	CV1334765	single nucleotide variant	NM_000937.5(POLR2A):c.1051C>T (p.Arg351Ter)	Developmental disorder [RCV001843721]	uncertain significance	17	7497719	7497719	Human	1	name
151717242	CV1334896	single nucleotide variant	NM_000937.5(POLR2A):c.1379G>A (p.Arg460Gln)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001843851]	likely pathogenic	17	7499082	7499082	Human	1	name
151780265	CV1355893	single nucleotide variant	NM_000937.5(POLR2A):c.1195A>G (p.Ile399Val)	not provided [RCV002046096]	uncertain significance	17	7497863	7497863	Human		name
151789362	CV1434461	single nucleotide variant	NM_000937.5(POLR2A):c.1219C>T (p.Arg407Cys)	not provided [RCV001876359]	uncertain significance	17	7498094	7498094	Human		name
152035248	CV1670115	single nucleotide variant	NM_000937.5(POLR2A):c.1568G>A (p.Arg523His)	not provided [RCV002223649]	uncertain significance	17	7499388	7499388	Human		name
153304804	CV1687250	single nucleotide variant	NM_000937.5(POLR2A):c.2795G>A (p.Arg932His)	not provided [RCV002263068]	uncertain significance	17	7503159	7503159	Human		name
153349211	CV1694066	single nucleotide variant	NM_000937.5(POLR2A):c.2887C>T (p.Arg963Trp)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV002275603]	uncertain significance	17	7503251	7503251	Human	1	name
153347920	CV1694969	single nucleotide variant	NM_000937.5(POLR2A):c.1880A>C (p.Lys627Thr)	not provided [RCV002278899]	uncertain significance	17	7500847	7500847	Human		name
155716632	CV1760553	single nucleotide variant	NM_000937.5(POLR2A):c.2977A>G (p.Ile993Val)	not provided [RCV002301061]	uncertain significance	17	7503433	7503433	Human		name
156047125	CV1867538	single nucleotide variant	NM_000937.5(POLR2A):c.1984C>T (p.His662Tyr)	not provided [RCV002510010]	uncertain significance	17	7501042	7501042	Human		name
156175141	CV2053539	single nucleotide variant	NM_000937.5(POLR2A):c.2354T>C (p.Ile785Thr)	not provided [RCV002802075]	uncertain significance	17	7501904	7501904	Human		name
156175756	CV2205271	single nucleotide variant	NM_000937.5(POLR2A):c.1150A>G (p.Ile384Val)	Inborn genetic diseases [RCV002664999]	uncertain significance	17	7497818	7497818	Human	1	name
156434881	CV2403171	single nucleotide variant	NM_000937.5(POLR2A):c.2879G>A (p.Arg960Gln)	not provided [RCV003127127]	uncertain significance	17	7503243	7503243	Human		name
243058599	CV2405128	single nucleotide variant	NM_000937.5(POLR2A):c.2595C>G (p.Ile865Met)	Tay-Sachs disease [RCV003142260]	uncertain significance	17	7502540	7502540	Human	1	name
329383021	CV2465493	single nucleotide variant	NM_000937.5(POLR2A):c.1657G>A (p.Val553Ile)	Inborn genetic diseases [RCV003213619]	uncertain significance	17	7499477	7499477	Human	1	name
329355811	CV2477592	single nucleotide variant	NM_000937.5(POLR2A):c.2543T>C (p.Ile848Thr)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003223541]	likely pathogenic	17	7502093	7502093	Human	1	name
329848497	CV2523176	single nucleotide variant	NM_000937.5(POLR2A):c.1112C>T (p.Pro371Leu)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003224936]	likely pathogenic	17	7497780	7497780	Human	1	name
329848472	CV2523240	deletion	NM_000937.5(POLR2A):c.5742del (p.Thr1915fs)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003225000]	uncertain significance	17	7514005	7514005	Human	1	name
329848813	CV2523561	single nucleotide variant	NM_000937.5(POLR2A):c.2271G>C (p.Gln757His)	not provided [RCV003225575]	uncertain significance	17	7501651	7501651	Human		name
329954814	CV2670746	single nucleotide variant	NM_000937.5(POLR2A):c.2857G>C (p.Glu953Gln)	not provided [RCV003236014]	uncertain significance	17	7503221	7503221	Human		name
401742789	CV2673874	single nucleotide variant	NM_000937.5(POLR2A):c.1910T>C (p.Met637Thr)	Inborn genetic diseases [RCV003251778]\|not provided [RCV004809987]	likely benign	17	7500968	7500968	Human	1	name
401769071	CV2696667	single nucleotide variant	NM_000937.5(POLR2A):c.2762G>A (p.Arg921His)	Inborn genetic diseases [RCV003260383]\|not provided [RCV003410323]	likely benign\|uncertain significance	17	7503126	7503126	Human	1	name
401720423	CV2737242	single nucleotide variant	NM_000937.5(POLR2A):c.2458C>T (p.Arg820Cys)	not provided [RCV003314181]	uncertain significance	17	7502008	7502008	Human		name
401740120	CV2738675	single nucleotide variant	NM_000937.5(POLR2A):c.1288C>A (p.Arg430Ser)	not provided [RCV003318069]	uncertain significance	17	7498163	7498163	Human		name
401798360	CV2741450	single nucleotide variant	NM_000937.5(POLR2A):c.2289C>G (p.Tyr763Ter)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003322668]	pathogenic	17	7501669	7501669	Human	1	name
401894789	CV2785281	single nucleotide variant	NM_000937.5(POLR2A):c.1982G>A (p.Gly661Asp)	Inborn genetic diseases [RCV003371850]	uncertain significance	17	7501040	7501040	Human	1	name
401936167	CV2802756	single nucleotide variant	NM_000937.5(POLR2A):c.2723C>T (p.Thr908Met)	Inborn genetic diseases [RCV004362799]\|POLR2A-related disorder [RCV003414139]	uncertain significance	17	7502668	7502668	Human	2	name , trait , alternate_id
401913942	CV2814823	single nucleotide variant	NM_000937.5(POLR2A):c.1172C>G (p.Ala391Gly)	not provided [RCV003428100]	uncertain significance	17	7497840	7497840	Human		name
405659395	CV3373524	single nucleotide variant	NM_000937.5(POLR2A):c.2048A>C (p.Glu683Ala)	Inborn genetic diseases [RCV004512385]	uncertain significance	17	7501106	7501106	Human	1	name
405853352	CV3392679	single nucleotide variant	NM_000937.5(POLR2A):c.2317G>A (p.Gly773Arg)	not specified [RCV004526404]	uncertain significance	17	7501697	7501697	Human		name
407481677	CV3460973	single nucleotide variant	NM_000937.5(POLR2A):c.1672G>A (p.Gly558Ser)	Inborn genetic diseases [RCV004664657]	uncertain significance	17	7500639	7500639	Human	1	name
407481688	CV3460975	single nucleotide variant	NM_000937.5(POLR2A):c.2861G>A (p.Arg954Gln)	Inborn genetic diseases [RCV004664659]	uncertain significance	17	7503225	7503225	Human	1	name
407472267	CV3495240	single nucleotide variant	NM_000937.5(POLR2A):c.2059A>G (p.Ile687Val)	not specified [RCV004689515]	uncertain significance	17	7501297	7501297	Human		name
408384982	CV3506535	single nucleotide variant	NM_000937.5(POLR2A):c.1369A>G (p.Ile457Val)	POLR2A-related disorder [RCV004732229]\|not provided [RCV005412676]	uncertain significance	17	7499072	7499072	Human	1	name , trait , alternate_id
408377530	CV3508792	single nucleotide variant	NM_000937.5(POLR2A):c.1750C>T (p.Pro584Ser)	POLR2A-related disorder [RCV004751058]	uncertain significance	17	7500717	7500717	Human		name , trait , alternate_id
408388231	CV3522595	single nucleotide variant	NM_000937.5(POLR2A):c.1885G>T (p.Val629Leu)	not provided [RCV004768976]	uncertain significance	17	7500943	7500943	Human		name
408388877	CV3522809	single nucleotide variant	NM_000937.5(POLR2A):c.1184C>A (p.Thr395Asn)	not provided [RCV004769190]	uncertain significance	17	7497852	7497852	Human		name
408390124	CV3524936	single nucleotide variant	NM_000937.5(POLR2A):c.1448G>A (p.Arg483His)	not provided [RCV004769831]	uncertain significance	17	7499151	7499151	Human		name
408381789	CV3526600	single nucleotide variant	NM_000937.5(POLR2A):c.2116A>G (p.Ile706Val)	not provided [RCV004771913]	uncertain significance	17	7501354	7501354	Human		name
408385499	CV3528537	single nucleotide variant	NM_000937.5(POLR2A):c.2185C>T (p.Pro729Ser)	not provided [RCV004772369]	uncertain significance	17	7501565	7501565	Human		name
596929133	CV3530970	single nucleotide variant	NM_000937.5(POLR2A):c.1378C>T (p.Arg460Trp)	not provided [RCV004779544]	uncertain significance	17	7499081	7499081	Human		name
596930206	CV3531425	single nucleotide variant	NM_000937.5(POLR2A):c.1762G>A (p.Gly588Ser)	not provided [RCV004779999]	uncertain significance	17	7500729	7500729	Human		name
596921560	CV3535182	single nucleotide variant	NM_000937.5(POLR2A):c.1589G>A (p.Ser530Asn)	not provided [RCV004784741]	uncertain significance	17	7499409	7499409	Human		name
596928833	CV3540578	single nucleotide variant	NM_000937.5(POLR2A):c.1228A>T (p.Asn410Tyr)	not provided [RCV004794906]	likely pathogenic	17	7498103	7498103	Human		name
597692746	CV3583967	single nucleotide variant	NM_000937.5(POLR2A):c.2878C>T (p.Arg960Trp)	Inborn genetic diseases [RCV004954386]	uncertain significance	17	7503242	7503242	Human	1	name
597692779	CV3583973	single nucleotide variant	NM_000937.5(POLR2A):c.2798C>T (p.Thr933Ile)	Inborn genetic diseases [RCV004954391]	uncertain significance	17	7503162	7503162	Human	1	name
597692796	CV3583975	single nucleotide variant	NM_000937.5(POLR2A):c.1885G>A (p.Val629Met)	Inborn genetic diseases [RCV004954393]	uncertain significance	17	7500943	7500943	Human	1	name
597645693	CV3716290	single nucleotide variant	NM_000937.5(POLR2A):c.1802A>G (p.Asn601Ser)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV005026129]	uncertain significance	17	7500769	7500769	Human	1	name
597854028	CV3762412	single nucleotide variant	NM_000937.5(POLR2A):c.2881G>C (p.Glu961Gln)	not specified [RCV005088328]	uncertain significance	17	7503245	7503245	Human		name
597845333	CV3880404	single nucleotide variant	NM_000937.5(POLR2A):c.2201G>A (p.Arg734Gln)	not provided [RCV005227292]	likely pathogenic	17	7501581	7501581	Human		name
598125542	CV3881685	single nucleotide variant	NM_000937.5(POLR2A):c.1570A>G (p.Met524Val)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV005232588]	uncertain significance	17	7499390	7499390	Human	1	name
598126669	CV3882124	single nucleotide variant	NM_000937.5(POLR2A):c.2009C>A (p.Ser670Tyr)	not provided [RCV005233675]	uncertain significance	17	7501067	7501067	Human		name
598232857	CV3886485	single nucleotide variant	NM_000937.5(POLR2A):c.2141T>C (p.Ile714Thr)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV005255929]	likely pathogenic	17	7501379	7501379	Human	1	name
598216500	CV3891406	single nucleotide variant	NM_000937.5(POLR2A):c.1383G>C (p.Gln461His)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV005252248]	uncertain significance	17	7499086	7499086	Human	1	name
616940222	CV4014732	single nucleotide variant	NM_000937.5(POLR2A):c.2200C>T (p.Arg734Trp)	not provided [RCV005414226]	likely pathogenic	17	7501580	7501580	Human		name
616938561	CV4015043	single nucleotide variant	NM_000937.5(POLR2A):c.1094C>T (p.Thr365Ile)	not provided [RCV005412059]	uncertain significance	17	7497762	7497762	Human		name
14978197	CV677327	single nucleotide variant	NM_000937.5(POLR2A):c.1166C>G (p.Thr389Ser)	not provided [RCV000850397]	uncertain significance	17	7497834	7497834	Human		name
14977279	CV679183	single nucleotide variant	NM_000937.5(POLR2A):c.1370T>C (p.Ile457Thr)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV000852288]\|not provided [RCV001550427]	pathogenic\|uncertain significance	17	7499073	7499073	Human	1	name
14977280	CV679184	single nucleotide variant	NM_000937.5(POLR2A):c.2098C>T (p.Gln700Ter)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV000852289]	pathogenic	17	7501336	7501336	Human	1	name
14977282	CV679185	single nucleotide variant	NM_000937.5(POLR2A):c.2203C>T (p.Gln735Ter)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV000852290]	pathogenic\|likely pathogenic	17	7501583	7501583	Human	1	name
14977283	CV679186	single nucleotide variant	NM_000937.5(POLR2A):c.2207C>T (p.Thr736Met)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV000852291]	pathogenic	17	7501587	7501587	Human	1	name
34891564	CV904655	single nucleotide variant	NM_000937.5(POLR2A):c.1462G>A (p.Val488Met)	Severe global developmental delay [RCV001799739]\|not provided [RCV001172113]	pathogenic\|likely pathogenic	17	7499282	7499282	Human	1	name
40815433	CV971091	single nucleotide variant	NM_000937.5(POLR2A):c.2508C>A (p.Phe836Leu)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001262821]\|not provided [RCV005415611]	likely pathogenic\|uncertain significance	17	7502058	7502058	Human	1	name
40887020	CV974095	single nucleotide variant	NM_000937.5(POLR2A):c.2350G>C (p.Val784Leu)	Inborn genetic diseases [RCV001266400]	uncertain significance	17	7501900	7501900	Human	1	name
40886671	CV974096	single nucleotide variant	NM_000937.5(POLR2A):c.2369A>C (p.Gln790Pro)	Inborn genetic diseases [RCV001265872]	uncertain significance	17	7501919	7501919	Human	1	name
126729037	CV985672	single nucleotide variant	NM_000937.5(POLR2A):c.1943C>A (p.Ser648Ter)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001293636]	likely pathogenic	17	7501001	7501001	Human	1	name
126746454	CV1015408	single nucleotide variant	NM_000937.5(POLR2A):c.3773G>A (p.Arg1258His)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001328472]	uncertain significance	17	7509592	7509592	Human	1	name
150421056	CV1181571	single nucleotide variant	NM_000937.5(POLR2A):c.3964A>G (p.Ile1322Val)	not provided [RCV001551838]	uncertain significance	17	7511451	7511451	Human		name
150425024	CV1185314	single nucleotide variant	NM_000937.5(POLR2A):c.5096A>C (p.Tyr1699Ser)	not provided [RCV001557454]	uncertain significance	17	7513360	7513360	Human		name
150415518	CV1192005	single nucleotide variant	NM_000937.5(POLR2A):c.3616C>T (p.Arg1206Ter)	not provided [RCV001568019]	uncertain significance	17	7509094	7509094	Human		name
150453330	CV1275422	single nucleotide variant	NM_000937.5(POLR2A):c.4837C>T (p.Pro1613Ser)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001706937]	uncertain significance	17	7513101	7513101	Human	1	name
150555430	CV1297897	single nucleotide variant	NM_000937.5(POLR2A):c.3518C>T (p.Thr1173Ile)	not provided [RCV001772805]	uncertain significance	17	7508996	7508996	Human		name
150540817	CV1298541	duplication	NM_000937.5(POLR2A):c.5432dup (p.Tyr1811Ter)	not provided [RCV001760689]	uncertain significance	17	7513695	7513696	Human		name
150549944	CV1299743	single nucleotide variant	NM_000937.5(POLR2A):c.4867T>C (p.Ser1623Pro)	not provided [RCV001752669]	uncertain significance	17	7513131	7513131	Human		name
150550047	CV1300023	single nucleotide variant	NM_000937.5(POLR2A):c.5891A>G (p.Asp1964Gly)	not provided [RCV001765493]	uncertain significance	17	7514157	7514157	Human		name
150531764	CV1302022	single nucleotide variant	NM_000937.5(POLR2A):c.4120G>T (p.Val1374Leu)	not provided [RCV001757240]	uncertain significance	17	7511829	7511829	Human		name
150554876	CV1304626	single nucleotide variant	NM_000937.5(POLR2A):c.4549A>T (p.Met1517Leu)	not provided [RCV001771596]	uncertain significance	17	7512533	7512533	Human		name
151352263	CV1322349	single nucleotide variant	NM_000937.5(POLR2A):c.3700A>G (p.Lys1234Glu)	not provided [RCV001806973]	likely pathogenic	17	7509178	7509178	Human		name
151847133	CV1409446	single nucleotide variant	NM_000937.5(POLR2A):c.3553G>T (p.Val1185Leu)	not provided [RCV001882101]	uncertain significance	17	7509031	7509031	Human		name
151748415	CV1428890	single nucleotide variant	NM_000937.5(POLR2A):c.3670C>T (p.Arg1224Trp)	not provided [RCV001986011]	uncertain significance	17	7509148	7509148	Human		name
151818195	CV1453448	single nucleotide variant	NM_000937.5(POLR2A):c.5093G>A (p.Ser1698Asn)	not provided [RCV001900619]	uncertain significance	17	7513357	7513357	Human		name
151796441	CV1503711	single nucleotide variant	NM_000937.5(POLR2A):c.3035G>A (p.Gly1012Glu)	not provided [RCV001973519]	uncertain significance	17	7503586	7503586	Human		name
152041167	CV1519481	single nucleotide variant	NM_000937.5(POLR2A):c.3749A>G (p.Asp1250Gly)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV002071034]\|not provided [RCV003418359]	uncertain significance	17	7509568	7509568	Human	1	name
152999189	CV1679633	single nucleotide variant	NM_000937.5(POLR2A):c.3364C>T (p.Pro1122Ser)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV002251022]	uncertain significance	17	7508374	7508374	Human	1	name
153000412	CV1683024	single nucleotide variant	NM_000937.5(POLR2A):c.5429G>A (p.Arg1810Gln)	See cases [RCV002253034]	uncertain significance	17	7513693	7513693	Human		name
152999929	CV1683472	single nucleotide variant	NM_000937.5(POLR2A):c.4633G>A (p.Gly1545Ser)	See cases [RCV002252656]\|not specified [RCV005239330]	uncertain significance	17	7512800	7512800	Human		name
153304807	CV1687253	single nucleotide variant	NM_000937.5(POLR2A):c.4645A>G (p.Ser1549Gly)	not provided [RCV002263071]	uncertain significance	17	7512812	7512812	Human		name
153304808	CV1687254	single nucleotide variant	NM_000937.5(POLR2A):c.4777T>C (p.Tyr1593His)	not provided [RCV002263072]	uncertain significance	17	7513041	7513041	Human		name
153305476	CV1688561	single nucleotide variant	NM_000937.5(POLR2A):c.4223G>A (p.Arg1408His)	not specified [RCV002266297]	uncertain significance	17	7511932	7511932	Human		name
153301021	CV1688861	single nucleotide variant	NM_000937.5(POLR2A):c.5577G>T (p.Lys1859Asn)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV002266589]	uncertain significance	17	7513843	7513843	Human	1	name
153301254	CV1689102	single nucleotide variant	NM_000937.5(POLR2A):c.4645A>T (p.Ser1549Cys)	Inborn genetic diseases [RCV004047453]\|Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV002266830]	uncertain significance	17	7512812	7512812	Human	2	name
153301298	CV1689146	single nucleotide variant	NM_000937.5(POLR2A):c.3946A>G (p.Asn1316Asp)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV002266874]	uncertain significance	17	7511433	7511433	Human	1	name
153301683	CV1689286	single nucleotide variant	NM_000937.5(POLR2A):c.4495A>G (p.Thr1499Ala)	not provided [RCV002267236]	uncertain significance	17	7512479	7512479	Human		name
153348113	CV1695162	single nucleotide variant	NM_000937.5(POLR2A):c.4505T>C (p.Phe1502Ser)	not provided [RCV002279093]	uncertain significance	17	7512489	7512489	Human		name
155641788	CV1707135	single nucleotide variant	NM_000937.5(POLR2A):c.3909G>C (p.Gln1303His)	not provided [RCV002288065]	uncertain significance	17	7511310	7511310	Human		name
155803523	CV1858084	single nucleotide variant	NM_000937.5(POLR2A):c.5734A>G (p.Thr1912Ala)	not provided [RCV002462392]	likely pathogenic	17	7514000	7514000	Human		name
155797478	CV1863346	single nucleotide variant	NM_000937.5(POLR2A):c.5672C>T (p.Thr1891Ile)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV002470621]	uncertain significance	17	7513938	7513938	Human	1	name
155800695	CV1863788	single nucleotide variant	NM_000937.5(POLR2A):c.5066C>A (p.Ser1689Tyr)	not provided [RCV002474211]	uncertain significance	17	7513330	7513330	Human		name
156048900	CV1867612	duplication	NM_000937.5(POLR2A):c.5892dup (p.Asp1965Ter)	not provided [RCV002510084]	uncertain significance	17	7514157	7514158	Human		name
156356738	CV1894991	single nucleotide variant	NM_000937.5(POLR2A):c.4228C>T (p.His1410Tyr)	not provided [RCV003091410]	uncertain significance	17	7511937	7511937	Human		name
156161680	CV1906956	single nucleotide variant	NM_000937.5(POLR2A):c.5902G>A (p.Glu1968Lys)	not provided [RCV003082919]	uncertain significance	17	7514168	7514168	Human		name
156136373	CV1910968	single nucleotide variant	NM_000937.5(POLR2A):c.4706C>T (p.Pro1569Leu)	not provided [RCV002623498]	uncertain significance	17	7512873	7512873	Human		name
155944800	CV1935552	single nucleotide variant	NM_000937.5(POLR2A):c.3689A>G (p.Gln1230Arg)	not provided [RCV002511299]	uncertain significance	17	7509167	7509167	Human		name
155953433	CV1936199	single nucleotide variant	NM_000937.5(POLR2A):c.4166A>G (p.Asp1389Gly)	not provided [RCV002511857]	likely pathogenic	17	7511875	7511875	Human		name
156045930	CV2216046	single nucleotide variant	NM_000937.5(POLR2A):c.5617A>G (p.Lys1873Glu)	Inborn genetic diseases [RCV002692563]	uncertain significance	17	7513883	7513883	Human	1	name
155952532	CV2238994	single nucleotide variant	NM_000937.5(POLR2A):c.3961A>G (p.Ile1321Val)	Inborn genetic diseases [RCV002753197]	uncertain significance	17	7511448	7511448	Human	1	name
155989876	CV2276393	single nucleotide variant	NM_000937.5(POLR2A):c.5396C>G (p.Pro1799Arg)	Inborn genetic diseases [RCV002864411]	uncertain significance	17	7513660	7513660	Human	1	name
156143948	CV2296439	single nucleotide variant	NM_000937.5(POLR2A):c.5468C>T (p.Pro1823Leu)	Inborn genetic diseases [RCV002850475]	uncertain significance	17	7513732	7513732	Human	1	name
156265480	CV2312223	single nucleotide variant	NM_000937.5(POLR2A):c.5281A>G (p.Ser1761Gly)	Inborn genetic diseases [RCV002920773]	uncertain significance	17	7513545	7513545	Human	1	name
156057392	CV2316801	single nucleotide variant	NM_000937.5(POLR2A):c.5099C>T (p.Ser1700Leu)	Inborn genetic diseases [RCV002924831]\|Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003458906]	uncertain significance	17	7513363	7513363	Human	2	name
156004610	CV2357582	single nucleotide variant	NM_000937.5(POLR2A):c.4474G>A (p.Gly1492Ser)	Inborn genetic diseases [RCV002997275]	uncertain significance	17	7512326	7512326	Human	1	name
156065989	CV2376138	single nucleotide variant	NM_000937.5(POLR2A):c.3214A>G (p.Ile1072Val)	Inborn genetic diseases [RCV002693700]	likely benign	17	7503765	7503765	Human	1	name
243059609	CV2413476	single nucleotide variant	NM_000937.5(POLR2A):c.3392C>G (p.Ser1131Cys)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003135096]	uncertain significance	17	7508402	7508402	Human	1	name
329388728	CV2447806	single nucleotide variant	NM_000937.5(POLR2A):c.4687C>T (p.Pro1563Ser)	Inborn genetic diseases [RCV003190763]	uncertain significance	17	7512854	7512854	Human	1	name
329386338	CV2455872	single nucleotide variant	NM_000937.5(POLR2A):c.3908A>G (p.Gln1303Arg)	Inborn genetic diseases [RCV003214732]	uncertain significance	17	7511309	7511309	Human	1	name
329360413	CV2458726	single nucleotide variant	NM_000937.5(POLR2A):c.4652C>T (p.Ala1551Val)	Inborn genetic diseases [RCV003204988]	uncertain significance	17	7512819	7512819	Human	1	name
329350629	CV2477414	single nucleotide variant	NM_000937.5(POLR2A):c.3890C>A (p.Thr1297Asn)	not provided [RCV003221739]	uncertain significance	17	7511291	7511291	Human		name
329954398	CV2669082	single nucleotide variant	NM_000937.5(POLR2A):c.3626C>G (p.Pro1209Arg)	See cases [RCV003232915]	uncertain significance	17	7509104	7509104	Human		name
329953079	CV2669788	single nucleotide variant	NM_000937.5(POLR2A):c.5404C>T (p.Pro1802Ser)	not provided [RCV003234412]	uncertain significance	17	7513668	7513668	Human		name
329954813	CV2670745	single nucleotide variant	NM_000937.5(POLR2A):c.4123C>T (p.Arg1375Trp)	not provided [RCV003236013]	uncertain significance	17	7511832	7511832	Human		name
401723052	CV2672070	single nucleotide variant	NM_000937.5(POLR2A):c.3445C>T (p.Arg1149Ter)	not provided [RCV003238971]	uncertain significance	17	7508455	7508455	Human		name
401727991	CV2675899	single nucleotide variant	NM_000937.5(POLR2A):c.5567C>T (p.Thr1856Ile)	Inborn genetic diseases [RCV003247251]	uncertain significance	17	7513833	7513833	Human	1	name
401773745	CV2702417	single nucleotide variant	NM_000937.5(POLR2A):c.4343G>A (p.Ser1448Asn)	Inborn genetic diseases [RCV003262306]	uncertain significance	17	7512195	7512195	Human	1	name
401758918	CV2705251	single nucleotide variant	NM_000937.5(POLR2A):c.5651C>A (p.Thr1884Asn)	Inborn genetic diseases [RCV003256662]	uncertain significance	17	7513917	7513917	Human	1	name
401750936	CV2715815	single nucleotide variant	NM_000937.5(POLR2A):c.3701A>C (p.Lys1234Thr)	Inborn genetic diseases [RCV003295350]	uncertain significance	17	7509179	7509179	Human	1	name
401720005	CV2737164	single nucleotide variant	NM_000937.5(POLR2A):c.5885G>T (p.Ser1962Ile)	not provided [RCV003314103]	uncertain significance	17	7514151	7514151	Human		name
401740451	CV2738721	single nucleotide variant	NM_000937.5(POLR2A):c.4055T>C (p.Val1352Ala)	not provided [RCV003318115]	uncertain significance	17	7511542	7511542	Human		name
401797000	CV2739957	single nucleotide variant	NM_000937.5(POLR2A):c.5039C>T (p.Pro1680Leu)	not provided [RCV003319918]	uncertain significance	17	7513303	7513303	Human		name
401828707	CV2743042	single nucleotide variant	NM_000937.5(POLR2A):c.3382A>G (p.Ile1128Val)	not provided [RCV003325750]	uncertain significance	17	7508392	7508392	Human		name
401828292	CV2744652	single nucleotide variant	NM_000937.5(POLR2A):c.5405C>T (p.Pro1802Leu)	not provided [RCV003328051]	uncertain significance	17	7513669	7513669	Human		name
401876462	CV2761066	single nucleotide variant	NM_000937.5(POLR2A):c.5251A>T (p.Thr1751Ser)	Inborn genetic diseases [RCV003363219]	likely benign	17	7513515	7513515	Human	1	name
401890882	CV2778405	single nucleotide variant	NM_000937.5(POLR2A):c.3637C>T (p.Arg1213Trp)	Inborn genetic diseases [RCV003354624]	uncertain significance	17	7509115	7509115	Human	1	name
401924237	CV2795109	single nucleotide variant	NM_000937.5(POLR2A):c.4164T>G (p.Phe1388Leu)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003388883]	uncertain significance	17	7511873	7511873	Human	1	name
401912465	CV2800567	single nucleotide variant	NM_000937.5(POLR2A):c.5783C>T (p.Pro1928Leu)	POLR2A-related disorder [RCV003399857]	uncertain significance	17	7514049	7514049	Human		name , trait , alternate_id
401933398	CV2804274	single nucleotide variant	NM_000937.5(POLR2A):c.4175A>G (p.Tyr1392Cys)	POLR2A-related disorder [RCV003392901]	uncertain significance	17	7511884	7511884	Human		name , trait , alternate_id
401920729	CV2804448	single nucleotide variant	NM_000937.5(POLR2A):c.4549A>G (p.Met1517Val)	POLR2A-related disorder [RCV003402725]	uncertain significance	17	7512533	7512533	Human		name , trait , alternate_id
401903760	CV2814841	single nucleotide variant	NM_000937.5(POLR2A):c.5210C>A (p.Thr1737Asn)	not provided [RCV003419612]	uncertain significance	17	7513474	7513474	Human		name
401916667	CV2831110	single nucleotide variant	NM_000937.5(POLR2A):c.3028G>T (p.Val1010Leu)	not provided [RCV003443379]	uncertain significance	17	7503484	7503484	Human		name
404999171	CV2850840	single nucleotide variant	NM_000937.5(POLR2A):c.3869C>G (p.Ser1290Cys)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003493132]	uncertain significance	17	7511270	7511270	Human	1	name
405274486	CV3208793	single nucleotide variant	NM_000937.5(POLR2A):c.5296T>C (p.Ser1766Pro)	POLR2A-related disorder [RCV003951599]	uncertain significance	17	7513560	7513560	Human		name , trait , alternate_id
405705779	CV3225187	single nucleotide variant	NM_000937.5(POLR2A):c.5132C>G (p.Pro1711Arg)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003990143]	uncertain significance	17	7513396	7513396	Human	1	name
405691020	CV3227413	single nucleotide variant	NM_000937.5(POLR2A):c.5492G>A (p.Ser1831Asn)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003991757]	uncertain significance	17	7513756	7513756	Human	1	name
405659399	CV3373525	single nucleotide variant	NM_000937.5(POLR2A):c.3016C>G (p.Pro1006Ala)	Inborn genetic diseases [RCV004512386]	uncertain significance	17	7503472	7503472	Human	1	name
405659413	CV3373529	single nucleotide variant	NM_000937.5(POLR2A):c.3445C>G (p.Arg1149Gly)	Inborn genetic diseases [RCV004512390]	uncertain significance	17	7508455	7508455	Human	1	name
405659421	CV3373531	single nucleotide variant	NM_000937.5(POLR2A):c.4588G>A (p.Ala1530Thr)	Inborn genetic diseases [RCV004512392]	uncertain significance	17	7512572	7512572	Human	1	name
405659429	CV3373533	single nucleotide variant	NM_000937.5(POLR2A):c.5237C>T (p.Pro1746Leu)	Inborn genetic diseases [RCV004512394]	likely benign	17	7513501	7513501	Human	1	name
405659433	CV3373534	single nucleotide variant	NM_000937.5(POLR2A):c.5467C>A (p.Pro1823Thr)	Inborn genetic diseases [RCV004512395]	uncertain significance	17	7513731	7513731	Human	1	name
405659438	CV3373535	single nucleotide variant	NM_000937.5(POLR2A):c.5524A>T (p.Thr1842Ser)	Inborn genetic diseases [RCV004512396]	uncertain significance	17	7513790	7513790	Human	1	name
405854501	CV3393942	single nucleotide variant	NM_000937.5(POLR2A):c.5756C>T (p.Thr1919Ile)	not provided [RCV004547168]	uncertain significance	17	7514022	7514022	Human		name
407427769	CV3412067	single nucleotide variant	NM_000937.5(POLR2A):c.3940A>G (p.Thr1314Ala)	not provided [RCV004592238]	uncertain significance	17	7511427	7511427	Human		name
407481692	CV3460976	single nucleotide variant	NM_000937.5(POLR2A):c.3125A>G (p.Asn1042Ser)	Inborn genetic diseases [RCV004664660]	uncertain significance	17	7503676	7503676	Human	1	name
407525090	CV3460980	single nucleotide variant	NM_000937.5(POLR2A):c.4997C>T (p.Pro1666Leu)	Inborn genetic diseases [RCV004653926]	uncertain significance	17	7513261	7513261	Human	1	name
407476099	CV3494847	single nucleotide variant	NM_000937.5(POLR2A):c.4724C>T (p.Pro1575Leu)	not specified [RCV004690748]	uncertain significance	17	7512891	7512891	Human		name
408382041	CV3502090	single nucleotide variant	NM_000937.5(POLR2A):c.3865G>A (p.Glu1289Lys)	not provided [RCV004729618]	pathogenic	17	7511266	7511266	Human		name
408369204	CV3502760	single nucleotide variant	NM_000937.5(POLR2A):c.4604T>C (p.Val1535Ala)	not provided [RCV004723881]	uncertain significance	17	7512588	7512588	Human		name
408370207	CV3503008	single nucleotide variant	NM_000937.5(POLR2A):c.5913A>G (p.Ter1971Trp)	not provided [RCV004724129]	uncertain significance	17	7514179	7514179	Human		name
408384709	CV3503376	single nucleotide variant	NM_000937.5(POLR2A):c.3263G>C (p.Gly1088Ala)	POLR2A-related disorder [RCV004732040]	uncertain significance	17	7508273	7508273	Human		name , trait , alternate_id
408383764	CV3507120	single nucleotide variant	NM_000937.5(POLR2A):c.4817G>T (p.Gly1606Val)	POLR2A-related disorder [RCV004730821]	uncertain significance	17	7513081	7513081	Human		name , trait , alternate_id
408377535	CV3508902	single nucleotide variant	NM_000937.5(POLR2A):c.5176A>G (p.Ser1726Gly)	POLR2A-related disorder [RCV004751062]	uncertain significance	17	7513440	7513440	Human		name , trait , alternate_id
408387219	CV3518756	single nucleotide variant	NM_000937.5(POLR2A):c.3082C>T (p.Pro1028Ser)	not provided [RCV004761075]	uncertain significance	17	7503633	7503633	Human		name
408389800	CV3519050	single nucleotide variant	NM_000937.5(POLR2A):c.4921C>T (p.Pro1641Ser)	not provided [RCV004762359]	uncertain significance	17	7513185	7513185	Human		name
408390323	CV3519340	single nucleotide variant	NM_000937.5(POLR2A):c.5536T>C (p.Tyr1846His)	not provided [RCV004762649]	uncertain significance	17	7513802	7513802	Human		name
408387071	CV3524377	single nucleotide variant	NM_000937.5(POLR2A):c.4774A>G (p.Ser1592Gly)	not provided [RCV004768251]	uncertain significance	17	7513038	7513038	Human		name
408387239	CV3524462	single nucleotide variant	NM_000937.5(POLR2A):c.5383C>T (p.Pro1795Ser)	not provided [RCV004768336]	uncertain significance	17	7513647	7513647	Human		name
408392484	CV3525255	single nucleotide variant	NM_000937.5(POLR2A):c.4786A>G (p.Thr1596Ala)	not provided [RCV004771141]	uncertain significance	17	7513050	7513050	Human		name
408384289	CV3525950	single nucleotide variant	NM_000937.5(POLR2A):c.3793G>A (p.Asp1265Asn)	not specified [RCV004766860]	uncertain significance	17	7509612	7509612	Human		name
408388402	CV3527486	single nucleotide variant	NM_000937.5(POLR2A):c.4217C>T (p.Thr1406Ile)	not provided [RCV004773790]	uncertain significance	17	7511926	7511926	Human		name
408390924	CV3527746	single nucleotide variant	NM_000937.5(POLR2A):c.3265G>C (p.Ala1089Pro)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV005254953]\|not provided [RCV004775015]	uncertain significance	17	7508275	7508275	Human	1	name
408391058	CV3527866	single nucleotide variant	NM_000937.5(POLR2A):c.5167A>C (p.Thr1723Pro)	not provided [RCV004775135]	uncertain significance	17	7513431	7513431	Human		name
408393594	CV3529515	single nucleotide variant	NM_000937.5(POLR2A):c.3778C>T (p.Arg1260Cys)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004776356]	uncertain significance	17	7509597	7509597	Human	1	name
596931364	CV3531700	single nucleotide variant	NM_000937.5(POLR2A):c.3137G>A (p.Arg1046Gln)	not provided [RCV004781262]	uncertain significance	17	7503688	7503688	Human		name
596921242	CV3534860	single nucleotide variant	NM_000937.5(POLR2A):c.3650A>G (p.Asp1217Gly)	not provided [RCV004784418]	uncertain significance	17	7509128	7509128	Human		name
596921551	CV3535173	single nucleotide variant	NM_000937.5(POLR2A):c.5644T>C (p.Ser1882Pro)	not provided [RCV004784732]	uncertain significance	17	7513910	7513910	Human		name
596921636	CV3535258	single nucleotide variant	NM_000937.5(POLR2A):c.4997C>G (p.Pro1666Arg)	not provided [RCV004784817]	uncertain significance	17	7513261	7513261	Human		name
596921797	CV3535423	single nucleotide variant	NM_000937.5(POLR2A):c.5854C>G (p.Pro1952Ala)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004784978]	uncertain significance	17	7514120	7514120	Human	1	name
597657043	CV3552374	single nucleotide variant	NM_000937.5(POLR2A):c.5609C>T (p.Thr1870Ile)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004821232]	uncertain significance	17	7513875	7513875	Human	1	name
597628488	CV3552510	single nucleotide variant	NM_000937.5(POLR2A):c.5125A>G (p.Thr1709Ala)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004821455]	uncertain significance	17	7513389	7513389	Human	1	name
597631103	CV3552622	single nucleotide variant	NM_000937.5(POLR2A):c.4417C>G (p.Leu1473Val)	not provided [RCV004823321]	uncertain significance	17	7512269	7512269	Human		name
597692756	CV3583968	single nucleotide variant	NM_000937.5(POLR2A):c.5566A>G (p.Thr1856Ala)	Inborn genetic diseases [RCV004954387]	uncertain significance	17	7513832	7513832	Human	1	name
597692763	CV3583970	single nucleotide variant	NM_000937.5(POLR2A):c.5377A>G (p.Thr1793Ala)	Inborn genetic diseases [RCV004954388]	uncertain significance	17	7513641	7513641	Human	1	name
597692788	CV3583974	single nucleotide variant	NM_000937.5(POLR2A):c.4502T>C (p.Met1501Thr)	Inborn genetic diseases [RCV004954392]	uncertain significance	17	7512486	7512486	Human	1	name
597692803	CV3583976	single nucleotide variant	NM_000937.5(POLR2A):c.4079A>G (p.Asn1360Ser)	Inborn genetic diseases [RCV004954394]	uncertain significance	17	7511566	7511566	Human	1	name
597692830	CV3583981	single nucleotide variant	NM_000937.5(POLR2A):c.3007G>A (p.Asp1003Asn)	Inborn genetic diseases [RCV004954398]	uncertain significance	17	7503463	7503463	Human	1	name
597692839	CV3583982	single nucleotide variant	NM_000937.5(POLR2A):c.3503A>C (p.Lys1168Thr)	Inborn genetic diseases [RCV004954399]	uncertain significance	17	7508981	7508981	Human	1	name
597692852	CV3583984	single nucleotide variant	NM_000937.5(POLR2A):c.4843T>G (p.Tyr1615Asp)	Inborn genetic diseases [RCV004954401]	uncertain significance	17	7513107	7513107	Human	1	name
597715446	CV3733190	single nucleotide variant	NM_000937.5(POLR2A):c.3070A>C (p.Asn1024His)	not provided [RCV005052379]	uncertain significance	17	7503621	7503621	Human		name
597833594	CV3735030	single nucleotide variant	NM_000937.5(POLR2A):c.5892T>G (p.Asp1964Glu)	Inborn genetic diseases [RCV005264580]\|not provided [RCV005054763]	uncertain significance	17	7514158	7514158	Human	1	name
597935649	CV3863770	single nucleotide variant	NM_000937.5(POLR2A):c.3502A>C (p.Lys1168Gln)	not provided [RCV005207583]	uncertain significance	17	7508980	7508980	Human		name
598126087	CV3881769	single nucleotide variant	NM_000937.5(POLR2A):c.5881A>G (p.Ile1961Val)	not provided [RCV005233320]	uncertain significance	17	7514147	7514147	Human		name
598124795	CV3883684	single nucleotide variant	NM_000937.5(POLR2A):c.3637C>G (p.Arg1213Gly)	not provided [RCV005236038]	uncertain significance	17	7509115	7509115	Human		name
598129217	CV3888511	single nucleotide variant	NM_000937.5(POLR2A):c.3005C>G (p.Ser1002Cys)	not provided [RCV005244685]	uncertain significance	17	7503461	7503461	Human		name
598236161	CV3893500	single nucleotide variant	NM_000937.5(POLR2A):c.3078T>A (p.Asp1026Glu)	not provided [RCV005256233]	uncertain significance	17	7503629	7503629	Human		name
598246118	CV3907648	single nucleotide variant	NM_000937.5(POLR2A):c.5878G>A (p.Ala1960Thr)	Inborn genetic diseases [RCV005258441]	uncertain significance	17	7514144	7514144	Human	1	name
598246123	CV3907649	single nucleotide variant	NM_000937.5(POLR2A):c.3548G>A (p.Ser1183Asn)	Inborn genetic diseases [RCV005258442]	likely benign	17	7509026	7509026	Human	1	name
598246139	CV3907652	single nucleotide variant	NM_000937.5(POLR2A):c.5416C>G (p.Pro1806Ala)	Inborn genetic diseases [RCV005258445]	uncertain significance	17	7513680	7513680	Human	1	name
598246150	CV3907654	single nucleotide variant	NM_000937.5(POLR2A):c.3772C>T (p.Arg1258Cys)	Inborn genetic diseases [RCV005258447]	uncertain significance	17	7509591	7509591	Human	1	name
598210685	CV4008048	single nucleotide variant	NM_000937.5(POLR2A):c.5261A>G (p.Asn1754Ser)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV005400362]	uncertain significance	17	7513525	7513525	Human	1	name
616938425	CV4012941	single nucleotide variant	NM_000937.5(POLR2A):c.4204T>C (p.Cys1402Arg)	not provided [RCV005410406]	uncertain significance	17	7511913	7511913	Human		name
14977285	CV679187	single nucleotide variant	NM_000937.5(POLR2A):c.3371T>C (p.Leu1124Pro)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV000852292]	pathogenic	17	7508381	7508381	Human	1	name
21075561	CV797601	single nucleotide variant	NM_000937.5(POLR2A):c.3368G>T (p.Arg1123Leu)	not provided [RCV000996474]	likely pathogenic	17	7508378	7508378	Human		name
40888527	CV861270	single nucleotide variant	NM_000937.5(POLR2A):c.3275C>T (p.Ala1092Val)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001263529]	likely pathogenic	17	7508285	7508285	Human	1	name
38466255	CV861271	single nucleotide variant	NM_000937.5(POLR2A):c.3281C>T (p.Ser1094Phe)	Neurodevelopmental disorder [RCV001195309]\|Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001263521]	likely pathogenic	17	7508291	7508291	Human	2	name
40888522	CV861272	single nucleotide variant	NM_000937.5(POLR2A):c.3407C>T (p.Thr1136Ile)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001263522]	likely pathogenic	17	7508417	7508417	Human	1	name
40886462	CV861273	single nucleotide variant	NM_000937.5(POLR2A):c.3752A>G (p.Asn1251Ser)	Inborn genetic diseases [RCV001266873]\|Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001263523]	pathogenic\|likely pathogenic	17	7509571	7509571	Human	2	name
40888523	CV861274	single nucleotide variant	NM_000937.5(POLR2A):c.4252G>A (p.Gly1418Arg)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001263524]	pathogenic\|likely pathogenic	17	7511961	7511961	Human	1	name
40815169	CV971092	single nucleotide variant	NM_000937.5(POLR2A):c.5428C>T (p.Arg1810Ter)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001262471]	pathogenic\|likely pathogenic	17	7513692	7513692	Human	1	name
40888407	CV971477	single nucleotide variant	NM_000937.5(POLR2A):c.3238A>G (p.Ile1080Val)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004799505]	uncertain significance	17	7503789	7503789	Human	1	name
40886968	CV974097	single nucleotide variant	NM_000937.5(POLR2A):c.3367C>G (p.Arg1123Gly)	Inborn genetic diseases [RCV001266313]	likely pathogenic	17	7508377	7508377	Human	1	name
40887443	CV974098	single nucleotide variant	NM_000937.5(POLR2A):c.3368G>A (p.Arg1123Gln)	Inborn genetic diseases [RCV001267042]\|Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV004554855]\|not provided [RCV005367802]	pathogenic\|likely pathogenic	17	7508378	7508378	Human	2	name
40887184	CV974099	single nucleotide variant	NM_000937.5(POLR2A):c.3413C>T (p.Ser1138Leu)	Inborn genetic diseases [RCV001266644]	uncertain significance	17	7508423	7508423	Human	1	name
150557079	CV1310410	duplication	NM_000937.5(POLR2A):c.1357_1360dup (p.Asp454fs)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001775338]	likely pathogenic	17	7499059	7499060	Human	1	name
156121649	CV2227049	microsatellite	NM_000937.5(POLR2A):c.3950AGA[2] (p.Lys1319del)	Inborn genetic diseases [RCV002707878]\|POLR2A-related disorder [RCV003404148]	likely pathogenic\|uncertain significance	17	7511436	7511438	Human		name , trait , alternate_id
401796226	CV2740432	deletion	NM_000937.5(POLR2A):c.1625_1628del (p.Leu542fs)	POLR2A-related disorder [RCV003397001]\|not provided [RCV003321102]	uncertain significance	17	7499442	7499445	Human	1	name , trait , alternate_id
401940618	CV2839774	microsatellite	NM_000937.5(POLR2A):c.5531CTT[1] (p.Ser1845del)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV003459028]	uncertain significance	17	7513797	7513799	Human		name
408385861	CV3528716	deletion	NM_000937.5(POLR2A):c.2635_2644del (p.Val879fs)	not provided [RCV004772549]	uncertain significance	17	7502577	7502586	Human		name
597660663	CV3731855	deletion	NM_000937.5(POLR2A):c.1348_1349del (p.Met450fs)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV005002077]	likely pathogenic	17	7499051	7499052	Human	1	name
401912852	CV2830036	deletion	NM_000937.5(POLR2A):c.2167_2169del (p.Asn723del)	not provided [RCV003441250]	likely pathogenic	17	7501547	7501549	Human		name
405659424	CV3373532	duplication	NM_000937.5(POLR2A):c.5209_5212dup (p.Ser1738fs)	Inborn genetic diseases [RCV004512393]	uncertain significance	17	7513472	7513473	Human	1	name
408386815	CV3524242	deletion	NM_000937.5(POLR2A):c.3802_3803del (p.Lys1268fs)	not provided [RCV004768116]	uncertain significance	17	7509621	7509622	Human		name
596931700	CV3531951	deletion	NM_000937.5(POLR2A):c.5224_5227del (p.Ser1742fs)	not provided [RCV004781513]	uncertain significance	17	7513486	7513489	Human		name
40886463	CV861275	microsatellite	NM_000937.5(POLR2A):c.5440_5441del (p.Gln1814fs)	Inborn genetic diseases [RCV001265757]\|Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001263525]	likely pathogenic\|uncertain significance	17	7513702	7513703	Human		name
126908879	CV1052890	deletion	NM_000937.5(POLR2A):c.3373_3375del (p.Lys1125del)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001374639]	likely pathogenic	17	7508383	7508385	Human	1	name
401903753	CV2814831	deletion	NM_000937.5(POLR2A):c.3386_3388del (p.Asn1129del)	not provided [RCV003419608]	uncertain significance	17	7508394	7508396	Human		name
152983359	CV1678178	microsatellite	NM_000937.5(POLR2A):c.5511_5512= (p.Pro1837_Lys1838=)	not specified [RCV002250335]	benign	17	7513775	7513776	Human		name
40888521	CV861269	deletion	NM_000937.5(POLR2A):c.1314_1319del (p.His439_Leu440del)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001263520]	likely pathogenic	17	7498185	7498190	Human	1	name
150550086	CV1300047	deletion	NM_000937.5(POLR2A):c.5267_5287del (p.Thr1756_Tyr1762del)	not provided [RCV001765517]	uncertain significance	17	7513527	7513547	Human		name
401731739	CV2736618	deletion	NM_000937.5(POLR2A):c.5779_5799del (p.Thr1929_Pro1935del)	not provided [RCV003313380]	uncertain significance	17	7514033	7514053	Human		name
596926316	CV3530765	deletion	NM_000937.5(POLR2A):c.5896_5897del (p.Asp1965_Ser1966insTer)	not provided [RCV004778350]	uncertain significance	17	7514162	7514163	Human		name
598174559	CV3890901	duplication	NM_000937.5(POLR2A):c.1735_1751dup (p.Pro584_Leu585insSerTer)	not provided [RCV005251754]	uncertain significance	17	7500695	7500696	Human		name
598203311	CV3896445	microsatellite	NM_000937.5(POLR2A):c.5101_5102insATCTCCCAGCTACTCGC (p.Pro1701fs)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV005356691]	likely benign	17	7513349	7513350	Human		name
155922277	CV2207449	microsatellite	NM_000937.5(POLR2A):c.5040CACTTCCCCTAGCTACTCGCC[1] (p.1642SYSPTSP[14])	Inborn genetic diseases [RCV002683027]	likely benign	17	7513302	7513322	Human		name
401903757	CV2814837	microsatellite	NM_000937.5(POLR2A):c.4995GCCCACCTCTCCCAGCTACTC[1] (p.1642SYSPTSP[14])	not provided [RCV003419610]	likely benign	17	7513239	7513259	Human		name
156136565	CV2210267	duplication	NM_000937.5(POLR2A):c.5022_5042dup (p.Pro1746_Asn1747insSerTyrSerProThrSerPro)	Inborn genetic diseases [RCV002696788]	likely benign	17	7513280	7513281	Human	1	name
401935662	CV2814838	insertion	NM_000937.5(POLR2A):c.5013_5014insAAGCCCACCTCTCCCAGCTAC (p.Tyr1671_Ser1672insLysProThrSerProSerTyr)	not provided [RCV003413121]	uncertain significance	17	7513258	7513259	Human		name

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