Ezh2 Variant Search Result - Rat Genome Database

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656 records found for search term Ezh2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11547441	CV252646	deletion	NM_004456.5(EZH2):c.*21del	Weaver syndrome [RCV001706342]\|not provided [RCV001610647]\|not specified [RCV000247759]	benign	7	148807625	148807625	Human	1	name
11659882	CV310172	single nucleotide variant	NM_004456.4(EZH2):c.-26G>A	Weaver syndrome [RCV000362248]	uncertain significance	7	148884182	148884182	Human		name
11646674	CV310288	single nucleotide variant	NM_004456.4(EZH2):c.-32A>C	Weaver syndrome [RCV000272298]	uncertain significance	7	148884188	148884188	Human		name
11609441	CV310174	single nucleotide variant	NM_004456.4(EZH2):c.-138C>T	Weaver syndrome [RCV000368101]	uncertain significance	7	148884294	148884294	Human		name
11634729	CV310297	duplication	NM_004456.4(EZH2):c.-174dup	Weaver syndrome [RCV000274247]\|not provided [RCV001534633]	likely benign	7	148884323	148884324	Human	1	name
126764232	CV1007331	single nucleotide variant	NM_004456.5(EZH2):c.117+4T>C	Weaver syndrome [RCV001319559]	uncertain significance	7	148847178	148847178	Human	1	name
127233132	CV1074533	single nucleotide variant	NM_004456.5(EZH2):c.999+7C>T	Weaver syndrome [RCV001413760]	likely benign	7	148819589	148819589	Human	1	name
151750806	CV1430517	single nucleotide variant	NM_004456.5(EZH2):c.484+6C>T	Weaver syndrome [RCV002006844]	uncertain significance	7	148829722	148829722	Human	1	name
152117563	CV1535469	single nucleotide variant	NM_004456.5(EZH2):c.728+7A>C	Weaver syndrome [RCV002097703]	likely benign	7	148827157	148827157	Human	1	name
155930823	CV1909043	single nucleotide variant	NM_004456.5(EZH2):c.484+7C>A	Weaver syndrome [RCV002614985]	likely benign	7	148829721	148829721	Human	1	name
156152625	CV1925961	duplication	NM_004456.5(EZH2):c.118-4dup	Weaver syndrome [RCV002624059]	benign	7	148846601	148846602	Human	1	name
10048994	CV195333	single nucleotide variant	NM_004456.5(EZH2):c.485-7G>A	Weaver syndrome [RCV000394534]\|not specified [RCV000179440]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	148828887	148828887	Human	1	name
10405502	CV207472	deletion	NM_004456.5(EZH2):c.118-4del	Weaver syndrome [RCV000229818]\|not provided [RCV001573904]\|not specified [RCV000194595]	benign\|likely benign	7	148846602	148846602	Human	1	name
156038907	CV2089533	single nucleotide variant	NM_004456.5(EZH2):c.625+7C>T	Weaver syndrome [RCV002867358]	likely benign	7	148828733	148828733	Human	1	name
156090404	CV2092323	single nucleotide variant	NM_004456.5(EZH2):c.364-7C>A	Weaver syndrome [RCV002913015]	likely benign	7	148829855	148829855	Human	1	name
155928403	CV2095867	single nucleotide variant	NM_004456.5(EZH2):c.907+4C>T	Weaver syndrome [RCV002903692]	uncertain significance	7	148826450	148826450	Human	1	name
402468437	CV2872075	single nucleotide variant	NM_004456.5(EZH2):c.364-9T>G	Weaver syndrome [RCV003503823]	likely benign	7	148829857	148829857	Human	1	name
402470557	CV2891796	single nucleotide variant	NM_004456.5(EZH2):c.625+4T>C	Weaver syndrome [RCV003504186]	uncertain significance	7	148828736	148828736	Human	1	name
405080870	CV2989885	single nucleotide variant	NM_004456.5(EZH2):c.484+8A>G	Weaver syndrome [RCV003612901]	likely benign	7	148829720	148829720	Human	1	name
405059189	CV3035339	single nucleotide variant	NM_004456.5(EZH2):c.118-4T>A	Weaver syndrome [RCV003611200]	likely benign	7	148846602	148846602	Human	1	name
405061739	CV3044108	single nucleotide variant	NM_004456.5(EZH2):c.626-6G>T	Weaver syndrome [RCV003611394]	likely benign	7	148827272	148827272	Human	1	name
405074289	CV3079691	single nucleotide variant	NM_004456.5(EZH2):c.363+9A>G	Weaver syndrome [RCV003612386]	likely benign	7	148832625	148832625	Human	1	name
402466922	CV3177702	single nucleotide variant	NM_004456.5(EZH2):c.485-9G>A	Weaver syndrome [RCV003873140]	likely benign	7	148828889	148828889	Human	1	name
597919549	CV3781128	single nucleotide variant	NM_004456.5(EZH2):c.626-5T>G	Weaver syndrome [RCV005130010]	likely benign	7	148827271	148827271	Human	1	name
617149426	CV4017531	single nucleotide variant	NM_004456.5(EZH2):c.729-7A>G	not provided [RCV005417189]	uncertain significance	7	148826639	148826639	Human		name
13479421	CV444096	single nucleotide variant	NM_004456.5(EZH2):c.907+5G>A	Weaver syndrome [RCV000689526]\|not provided [RCV001531064]	likely benign\|uncertain significance	7	148826449	148826449	Human	1	name
13473434	CV457508	single nucleotide variant	NM_004456.5(EZH2):c.625+5G>A	EZH2-related disorder [RCV004541650]\|Weaver syndrome [RCV000547797]\|not provided [RCV000605464]	benign\|likely benign	7	148828735	148828735	Human	1	name , trait
15145395	CV689859	single nucleotide variant	NM_004456.5(EZH2):c.485-8C>T	Weaver syndrome [RCV000866080]\|not provided [RCV003884762]	likely benign	7	148828888	148828888	Human	1	name
126760545	CV992187	single nucleotide variant	NM_004456.5(EZH2):c.626-3T>C	Weaver syndrome [RCV001309346]\|not provided [RCV004692465]	uncertain significance	7	148827269	148827269	Human	1	name
126767128	CV1027876	single nucleotide variant	NM_004456.5(EZH2):c.2195+4G>C	Weaver syndrome [RCV001342699]	uncertain significance	7	148809067	148809067	Human	1	name
126922101	CV1044800	duplication	NM_004456.5(EZH2):c.1672+2dup	Weaver syndrome [RCV001364272]	uncertain significance	7	148814911	148814912	Human	1	name
127241708	CV1074527	single nucleotide variant	NM_004456.5(EZH2):c.2111-6T>C	Weaver syndrome [RCV001393218]	likely benign	7	148809161	148809161	Human	1	name
127247933	CV1074530	single nucleotide variant	NM_004456.5(EZH2):c.1241-9G>T	Weaver syndrome [RCV001399238]	likely benign	7	148817400	148817400	Human	1	name
127266574	CV1096160	single nucleotide variant	NM_004456.5(EZH2):c.1672+8T>C	Weaver syndrome [RCV001440265]	likely benign	7	148814906	148814906	Human	1	name
127312232	CV1117681	single nucleotide variant	NM_004456.5(EZH2):c.1852-5T>C	Weaver syndrome [RCV001464320]	likely benign	7	148811725	148811725	Human	1	name
127294695	CV1117682	single nucleotide variant	NM_004456.5(EZH2):c.1546+7A>G	Weaver syndrome [RCV001459523]	likely benign	7	148815499	148815499	Human	1	name
150421699	CV1180299	single nucleotide variant	NM_004456.5(EZH2):c.907+84T>A	not provided [RCV001552135]	likely benign	7	148826370	148826370	Human		name
150420641	CV1180300	single nucleotide variant	NM_004456.5(EZH2):c.-7-165T>C	not provided [RCV001551645]	likely benign	7	148847470	148847470	Human		name
150422644	CV1180301	single nucleotide variant	NM_004456.5(EZH2):c.-8+703C>T	not provided [RCV001552916]	likely benign	7	148883461	148883461	Human		name
150428871	CV1187211	single nucleotide variant	NM_004456.5(EZH2):c.484+96T>C	not provided [RCV001562838]	likely benign	7	148829632	148829632	Human		name
150427793	CV1187212	single nucleotide variant	NM_004456.5(EZH2):c.484+88T>A	not provided [RCV001561398]	likely benign	7	148829640	148829640	Human		name
150418233	CV1193910	single nucleotide variant	NM_004456.5(EZH2):c.-7-280G>C	not provided [RCV001569120]	likely benign	7	148847585	148847585	Human		name
150413581	CV1197658	single nucleotide variant	NM_004456.5(EZH2):c.908-99G>A	not provided [RCV001574666]	likely benign	7	148819786	148819786	Human		name
150508679	CV1214105	single nucleotide variant	NM_004456.5(EZH2):c.363+43T>C	not provided [RCV001596626]	likely benign	7	148832591	148832591	Human		name
150444312	CV1288003	single nucleotide variant	NM_004456.5(EZH2):c.-7-218T>G	not provided [RCV001725725]	benign	7	148847523	148847523	Human		name
8686676	CV139277	single nucleotide variant	NM_004456.5(EZH2):c.1240+9C>A	EZH2-related disorder [RCV004542923]\|Weaver syndrome [RCV000634026]\|not specified [RCV000122398]	benign\|not provided	7	148817868	148817868	Human	1	name , trait
8691017	CV140976	single nucleotide variant	NM_004456.5(EZH2):c.2110+6T>G	Weaver syndrome [RCV001514766]\|not provided [RCV004712106]\|not specified [RCV000145977]	benign	7	148809304	148809304	Human	1	name
151792593	CV1490182	single nucleotide variant	NM_004456.5(EZH2):c.364-20A>G	Weaver syndrome [RCV001952187]	likely benign\|uncertain significance	7	148829868	148829868	Human	1	name
151757013	CV1513997	single nucleotide variant	NM_004456.5(EZH2):c.2030-5T>G	Weaver syndrome [RCV001948714]	likely benign\|uncertain significance	7	148809395	148809395	Human	1	name
152117583	CV1524240	single nucleotide variant	NM_004456.5(EZH2):c.1411-8C>T	Weaver syndrome [RCV002135292]	likely benign	7	148816786	148816786	Human	1	name
152167374	CV1557915	single nucleotide variant	NM_004456.5(EZH2):c.729-15C>T	Weaver syndrome [RCV002182153]	likely benign	7	148826647	148826647	Human	1	name
152069163	CV1562269	single nucleotide variant	NM_004456.5(EZH2):c.2110+7A>T	Weaver syndrome [RCV002169067]	likely benign	7	148809303	148809303	Human	1	name
152078139	CV1564799	duplication	NM_004456.5(EZH2):c.908-10dup	Weaver syndrome [RCV002192689]	likely benign	7	148819696	148819697	Human	1	name
152121494	CV1570254	single nucleotide variant	NM_004456.5(EZH2):c.485-17C>A	Weaver syndrome [RCV002216841]	likely benign	7	148828897	148828897	Human	1	name
152128049	CV1581276	single nucleotide variant	NM_004456.5(EZH2):c.2110+8C>T	Weaver syndrome [RCV002099101]	likely benign	7	148809302	148809302	Human	1	name
152025643	CV1586458	single nucleotide variant	NM_004456.5(EZH2):c.364-14T>A	Weaver syndrome [RCV002184889]	likely benign	7	148829862	148829862	Human	1	name
152068041	CV1592314	single nucleotide variant	NM_004456.5(EZH2):c.364-17A>G	Weaver syndrome [RCV002168930]	likely benign	7	148829865	148829865	Human	1	name
152113681	CV1605958	single nucleotide variant	NM_004456.5(EZH2):c.484+15T>G	Weaver syndrome [RCV002116894]	likely benign	7	148829713	148829713	Human	1	name
152045441	CV1614193	single nucleotide variant	NM_004456.5(EZH2):c.626-15T>C	Weaver syndrome [RCV002166222]	likely benign	7	148827281	148827281	Human	1	name
152105088	CV1622807	single nucleotide variant	NM_004456.5(EZH2):c.908-14C>G	Weaver syndrome [RCV002214698]	likely benign	7	148819701	148819701	Human	1	name
9682490	CV168572	single nucleotide variant	NM_004456.5(EZH2):c.2110+6T>C	not specified [RCV000145976]	benign	7	148809304	148809304	Human		name
9682485	CV168577	single nucleotide variant	NM_004456.5(EZH2):c.1852-6C>T	Weaver syndrome [RCV000226375]\|not provided [RCV001573808]\|not specified [RCV000145971]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	148811726	148811726	Human	1	name
155644809	CV1708812	single nucleotide variant	NM_004456.5(EZH2):c.2110+2T>A	not provided [RCV002291409]	uncertain significance	7	148809308	148809308	Human		name
156057841	CV1867855	single nucleotide variant	NM_004456.5(EZH2):c.1852-4C>G	Weaver syndrome [RCV003037149]	likely benign	7	148811724	148811724	Human	1	name
156325578	CV1871191	single nucleotide variant	NM_004456.5(EZH2):c.485-14T>A	Weaver syndrome [RCV003063378]	likely benign	7	148828894	148828894	Human	1	name
156409326	CV1873995	deletion	NM_004456.5(EZH2):c.118-15del	Weaver syndrome [RCV003071627]	likely benign	7	148846613	148846613	Human	1	name
156409331	CV1873997	single nucleotide variant	NM_004456.5(EZH2):c.118-17T>C	Weaver syndrome [RCV003071629]	likely benign	7	148846615	148846615	Human	1	name
156333469	CV1905766	single nucleotide variant	NM_004456.5(EZH2):c.246+19T>C	Weaver syndrome [RCV003089931]	likely benign	7	148846451	148846451	Human	1	name
156004677	CV1906290	deletion	NM_004456.5(EZH2):c.118-17del	Weaver syndrome [RCV003098969]	likely benign	7	148846615	148846615	Human	1	name
156017109	CV1918425	single nucleotide variant	NM_004456.5(EZH2):c.1240+7C>T	Weaver syndrome [RCV002636523]	likely benign	7	148817870	148817870	Human	1	name
156344764	CV1981824	single nucleotide variant	NM_004456.5(EZH2):c.2111-5T>C	Weaver syndrome [RCV002631619]	likely benign	7	148809160	148809160	Human	1	name
156175333	CV2022949	single nucleotide variant	NM_004456.5(EZH2):c.626-17C>T	Weaver syndrome [RCV002765444]	likely benign	7	148827283	148827283	Human	1	name
156121827	CV2078126	single nucleotide variant	NM_004456.5(EZH2):c.729-12G>A	Weaver syndrome [RCV002889593]	uncertain significance	7	148826644	148826644	Human	1	name
156113177	CV2104491	single nucleotide variant	NM_004456.5(EZH2):c.364-16T>C	Weaver syndrome [RCV002927517]	likely benign	7	148829864	148829864	Human	1	name
11346614	CV239991	duplication	NM_004456.5(EZH2):c.247-15dup	EZH2-related disorder [RCV004532906]\|Weaver syndrome [RCV000229150]\|not provided [RCV001705264]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	148832759	148832760	Human	1	name , trait
11544184	CV252647	single nucleotide variant	NM_004456.5(EZH2):c.728+19G>C	Weaver syndrome [RCV002058165]\|not provided [RCV001723851]\|not specified [RCV000243443]	benign	7	148827145	148827145	Human	1	name
402468972	CV2873273	single nucleotide variant	NM_004456.5(EZH2):c.117+16T>C	Weaver syndrome [RCV003503915]	likely benign	7	148847166	148847166	Human	1	name
402470079	CV2882348	single nucleotide variant	NM_004456.5(EZH2):c.1000-7T>G	Weaver syndrome [RCV003504295]	likely benign	7	148818124	148818124	Human	1	name
402470168	CV2889254	deletion	NM_004456.5(EZH2):c.364-15del	Weaver syndrome [RCV003504319]	likely benign	7	148829863	148829863	Human	1	name
405077983	CV2975523	single nucleotide variant	NM_004456.5(EZH2):c.2029+4T>C	Weaver syndrome [RCV003612652]	uncertain significance	7	148810329	148810329	Human	1	name
405085027	CV3012018	single nucleotide variant	NM_004456.5(EZH2):c.907+20C>G	Weaver syndrome [RCV003613254]	likely benign	7	148826434	148826434	Human	1	name
405087455	CV3014390	single nucleotide variant	NM_004456.5(EZH2):c.485-14T>C	Weaver syndrome [RCV003613453]	likely benign	7	148828894	148828894	Human	1	name
11655687	CV302177	microsatellite	NM_004456.5(EZH2):c.-73GCG[7]	Weaver syndrome [RCV000327415]\|not provided [RCV002058657]	benign\|likely benign\|uncertain significance	7	148884211	148884212	Human		name
405088263	CV3028992	single nucleotide variant	NM_004456.5(EZH2):c.2111-8C>T	Weaver syndrome [RCV003613518]	likely benign	7	148809163	148809163	Human	1	name
405060614	CV3039949	single nucleotide variant	NM_004456.5(EZH2):c.484+15T>C	Weaver syndrome [RCV003611292]	likely benign	7	148829713	148829713	Human	1	name
11605747	CV305359	single nucleotide variant	NM_004456.5(EZH2):c.1852-9A>G	Weaver syndrome [RCV000323431]\|not provided [RCV001705528]\|not specified [RCV000438713]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	148811729	148811729	Human	1	name
11606225	CV305363	single nucleotide variant	NM_004456.4(EZH2):c.1506-4G>A	Weaver syndrome [RCV000329161]	uncertain significance	7	148815550	148815550	Human		name
405062490	CV3055304	single nucleotide variant	NM_004456.5(EZH2):c.907+11A>G	Weaver syndrome [RCV003611454]	likely benign	7	148826443	148826443	Human	1	name
405071633	CV3069658	single nucleotide variant	NM_004456.5(EZH2):c.1547-8T>C	Weaver syndrome [RCV003612199]	likely benign	7	148815047	148815047	Human	1	name
11601495	CV310165	single nucleotide variant	NM_004456.5(EZH2):c.484+13C>T	Weaver syndrome [RCV001198635]\|not specified [RCV000605704]	benign\|likely benign	7	148829715	148829715	Human	1	name
11602947	CV310277	single nucleotide variant	NM_004456.5(EZH2):c.625+12T>G	Weaver syndrome [RCV002894913]	likely benign\|uncertain significance	7	148828728	148828728	Human	1	name
405000928	CV3183990	single nucleotide variant	NM_004456.5(EZH2):c.1410+9T>C	Weaver syndrome [RCV003882573]	likely benign	7	148817213	148817213	Human	1	name
405004897	CV3184605	single nucleotide variant	NM_004456.5(EZH2):c.2195+1G>A	not provided [RCV003883393]	not provided	7	148809070	148809070	Human		name
597702535	CV3718978	single nucleotide variant	NM_004456.5(EZH2):c.625+17G>C	Weaver syndrome [RCV005033661]	uncertain significance	7	148828723	148828723	Human	1	name
597862475	CV3766504	single nucleotide variant	NM_004456.5(EZH2):c.907+18A>G	Weaver syndrome [RCV005106229]	likely benign	7	148826436	148826436	Human	1	name
597915402	CV3779009	single nucleotide variant	NM_004456.5(EZH2):c.908-15T>G	Weaver syndrome [RCV005129354]	likely benign	7	148819702	148819702	Human	1	name
597882461	CV3803132	single nucleotide variant	NM_004456.5(EZH2):c.246+17T>C	Weaver syndrome [RCV005149983]	likely benign	7	148846453	148846453	Human	1	name
597958502	CV3814881	single nucleotide variant	NM_004456.5(EZH2):c.247-20T>C	Weaver syndrome [RCV005163006]	likely benign	7	148832770	148832770	Human	1	name
597942414	CV3815641	deletion	NM_004456.5(EZH2):c.1948-3del	Weaver syndrome [RCV005159330]	benign	7	148810417	148810417	Human	1	name
597861408	CV3822508	single nucleotide variant	NM_004456.5(EZH2):c.363+19T>A	Weaver syndrome [RCV005175038]	likely benign	7	148832615	148832615	Human	1	name
597910486	CV3830046	single nucleotide variant	NM_004456.5(EZH2):c.484+17T>C	Weaver syndrome [RCV005182615]	likely benign	7	148829711	148829711	Human	1	name
597891439	CV3836055	single nucleotide variant	NM_004456.5(EZH2):c.118-18T>A	Weaver syndrome [RCV005179828]	likely benign	7	148846616	148846616	Human	1	name
597918640	CV3842458	single nucleotide variant	NM_004456.5(EZH2):c.626-14A>G	Weaver syndrome [RCV005183943]	likely benign	7	148827280	148827280	Human	1	name
597960063	CV3843542	single nucleotide variant	NM_004456.5(EZH2):c.247-18T>C	Weaver syndrome [RCV005192579]	likely benign	7	148832768	148832768	Human	1	name
597903972	CV3846071	single nucleotide variant	NM_004456.5(EZH2):c.1947+9C>T	Weaver syndrome [RCV005181693]	likely benign	7	148811616	148811616	Human	1	name
597893706	CV3857120	single nucleotide variant	NM_004456.5(EZH2):c.999+15C>G	Weaver syndrome [RCV005200983]	likely benign	7	148819581	148819581	Human	1	name
597966207	CV3859070	single nucleotide variant	NM_004456.5(EZH2):c.1851+8A>T	Weaver syndrome [RCV005194465]	likely benign	7	148813951	148813951	Human	1	name
597925700	CV3863527	single nucleotide variant	NM_004456.5(EZH2):c.1672+5G>T	not provided [RCV005205852]	uncertain significance	7	148814909	148814909	Human		name
12890186	CV395665	single nucleotide variant	NM_004456.5(EZH2):c.1852-9A>C	Weaver syndrome [RCV000474149]	likely benign	7	148811729	148811729	Human	1	name
13494547	CV456781	single nucleotide variant	NM_004456.5(EZH2):c.2110+9C>G	Weaver syndrome [RCV000558981]	likely benign\|uncertain significance	7	148809301	148809301	Human	1	name
13617233	CV522437	single nucleotide variant	NM_004456.5(EZH2):c.484+10A>G	Weaver syndrome [RCV000634028]	likely benign	7	148829718	148829718	Human	1	name
14717332	CV651706	single nucleotide variant	NM_004456.5(EZH2):c.2196-2A>G	Weaver syndrome [RCV000811856]	uncertain significance	7	148807708	148807708	Human	1	name
14717555	CV662779	single nucleotide variant	NM_004456.5(EZH2):c.246+37T>C	Weaver syndrome [RCV001702843]\|not provided [RCV000830103]	benign	7	148846433	148846433	Human	1	name
14733869	CV662842	single nucleotide variant	NM_004456.5(EZH2):c.-7-236C>T	not provided [RCV000837295]	benign	7	148847541	148847541	Human		name
14724910	CV662851	single nucleotide variant	NM_004456.5(EZH2):c.247-80G>A	not provided [RCV000833193]	benign	7	148832830	148832830	Human		name
14742824	CV662853	single nucleotide variant	NM_004456.5(EZH2):c.118-63G>A	not provided [RCV000841651]	benign	7	148846661	148846661	Human		name
15122107	CV685209	single nucleotide variant	NM_004456.5(EZH2):c.1000-5C>T	Weaver syndrome [RCV000861995]	likely benign	7	148818122	148818122	Human	1	name
15110726	CV695356	single nucleotide variant	NM_004456.5(EZH2):c.1505+9G>T	Weaver syndrome [RCV005092600]	likely benign	7	148816675	148816675	Human	1	name
15108570	CV695357	single nucleotide variant	NM_004456.5(EZH2):c.1000-4G>A	Weaver syndrome [RCV001424197]	likely benign	7	148818121	148818121	Human	1	name
38598586	CV695358	duplication	NM_004456.5(EZH2):c.364-14dup	Weaver syndrome [RCV001514298]	benign	7	148829855	148829856	Human	1	name
38465889	CV959842	single nucleotide variant	NM_004456.5(EZH2):c.2195+4G>A	Weaver syndrome [RCV001230210]	uncertain significance	7	148809067	148809067	Human	1	name
150426619	CV1187209	single nucleotide variant	NM_004456.5(EZH2):c.1000-78T>A	not provided [RCV001559804]	likely benign	7	148818195	148818195	Human		name
150428136	CV1187210	single nucleotide variant	NM_004456.5(EZH2):c.485-120A>T	not provided [RCV001561861]	likely benign	7	148829000	148829000	Human		name
150471361	CV1209532	single nucleotide variant	NM_004456.5(EZH2):c.626-118T>C	not provided [RCV001588643]	likely benign	7	148827384	148827384	Human		name
150482576	CV1209990	deletion	NM_004456.5(EZH2):c.907+245del	not provided [RCV001590688]	likely benign	7	148826209	148826209	Human		name
150503715	CV1212538	single nucleotide variant	NM_004456.5(EZH2):c.626-277A>C	not provided [RCV001595413]	benign	7	148827543	148827543	Human		name
150507966	CV1255969	single nucleotide variant	NM_004456.5(EZH2):c.2111-46C>T	not provided [RCV001678570]	benign	7	148809201	148809201	Human		name
150456907	CV1278562	deletion	NM_004456.5(EZH2):c.118-287del	not provided [RCV001709177]	benign	7	148846885	148846885	Human		name
150439879	CV1287105	single nucleotide variant	NM_004456.5(EZH2):c.1505+20C>G	Weaver syndrome [RCV002073380]\|not provided [RCV001725020]	benign	7	148816664	148816664	Human	1	name
150444306	CV1288002	single nucleotide variant	NM_004456.5(EZH2):c.625+240C>T	not provided [RCV001725724]	benign	7	148828500	148828500	Human		name
151232347	CV1316741	single nucleotide variant	NM_004456.5(EZH2):c.1851+48G>C	not provided [RCV001786561]	likely benign	7	148813911	148813911	Human		name
151662801	CV1333462	single nucleotide variant	NM_004456.5(EZH2):c.1673-39A>G	not provided [RCV001837654]	likely benign	7	148814176	148814176	Human		name
8686675	CV139276	single nucleotide variant	NM_004456.5(EZH2):c.1240+48G>A	not provided [RCV000835269]\|not specified [RCV000122397]	likely benign\|not provided	7	148817829	148817829	Human		name
151734381	CV1506919	single nucleotide variant	NM_004456.5(EZH2):c.2029+18G>T	Weaver syndrome [RCV001946389]	likely benign\|uncertain significance	7	148810315	148810315	Human	1	name
152069189	CV1535335	single nucleotide variant	NM_004456.5(EZH2):c.1851+12G>A	Weaver syndrome [RCV002091351]	likely benign	7	148813947	148813947	Human	1	name
152123553	CV1546302	single nucleotide variant	NM_004456.5(EZH2):c.1506-13T>C	Weaver syndrome [RCV002118151]	benign	7	148815559	148815559	Human	1	name
152069593	CV1571086	single nucleotide variant	NM_004456.5(EZH2):c.1411-12G>A	Weaver syndrome [RCV002129431]	likely benign	7	148816790	148816790	Human	1	name
152167991	CV1577592	single nucleotide variant	NM_004456.5(EZH2):c.1000-11T>G	Weaver syndrome [RCV002204853]	likely benign	7	148818128	148818128	Human	1	name
152141879	CV1583507	single nucleotide variant	NM_004456.5(EZH2):c.2110+15C>T	Weaver syndrome [RCV002120485]	likely benign	7	148809295	148809295	Human	1	name
152096025	CV1597428	single nucleotide variant	NM_004456.5(EZH2):c.1505+19T>A	Weaver syndrome [RCV002114711]	likely benign	7	148816665	148816665	Human	1	name
152076283	CV1616914	single nucleotide variant	NM_004456.5(EZH2):c.2111-10C>T	Weaver syndrome [RCV002210638]	likely benign	7	148809165	148809165	Human	1	name
156410562	CV1882586	single nucleotide variant	NM_004456.5(EZH2):c.1852-19A>G	Weaver syndrome [RCV003072117]	likely benign	7	148811739	148811739	Human	1	name
155993238	CV1894534	single nucleotide variant	NM_004456.5(EZH2):c.1851+11A>G	Weaver syndrome [RCV003076214]	likely benign	7	148813948	148813948	Human	1	name
156041489	CV1926882	single nucleotide variant	NM_004456.5(EZH2):c.2029+18G>C	Weaver syndrome [RCV002637592]	likely benign	7	148810315	148810315	Human	1	name
156410207	CV1932217	single nucleotide variant	NM_004456.5(EZH2):c.1672+15C>G	Weaver syndrome [RCV002607796]	likely benign	7	148814899	148814899	Human	1	name
156124152	CV1933750	single nucleotide variant	NM_004456.5(EZH2):c.1240+14A>G	Weaver syndrome [RCV002640444]	likely benign	7	148817863	148817863	Human	1	name
156436150	CV1941065	single nucleotide variant	NM_004456.5(EZH2):c.1241-14A>G	Weaver syndrome [RCV003112001]	likely benign	7	148817405	148817405	Human	1	name
156232251	CV1956062	single nucleotide variant	NM_004456.5(EZH2):c.1506-16C>A	Weaver syndrome [RCV002575918]	likely benign	7	148815562	148815562	Human	1	name
156151919	CV1967475	single nucleotide variant	NM_004456.5(EZH2):c.2110+16G>A	Weaver syndrome [RCV002594172]	likely benign	7	148809294	148809294	Human	1	name
156388589	CV1983248	single nucleotide variant	NM_004456.5(EZH2):c.2029+18G>A	Weaver syndrome [RCV002634793]	likely benign	7	148810315	148810315	Human	1	name
156217596	CV1995524	single nucleotide variant	NM_004456.5(EZH2):c.1411-20G>C	Weaver syndrome [RCV002667097]	likely benign	7	148816798	148816798	Human	1	name
156271242	CV2055982	single nucleotide variant	NM_004456.5(EZH2):c.2030-20G>C	Weaver syndrome [RCV002806668]	likely benign	7	148809410	148809410	Human	1	name
156111269	CV2108274	single nucleotide variant	NM_004456.5(EZH2):c.2030-19C>T	Weaver syndrome [RCV002927441]	likely benign	7	148809409	148809409	Human	1	name
156337399	CV2178284	single nucleotide variant	NM_004456.5(EZH2):c.2111-15T>C	Weaver syndrome [RCV003047553]	likely benign	7	148809170	148809170	Human	1	name
156136770	CV2181586	deletion	NM_004456.5(EZH2):c.2029+14del	Weaver syndrome [RCV003039895]	likely benign	7	148810319	148810319	Human	1	name
243053304	CV2418488	single nucleotide variant	NM_004456.5(EZH2):c.1547-11T>C	not provided [RCV003154156]	uncertain significance	7	148815050	148815050	Human		name
402465233	CV2858899	single nucleotide variant	NM_004456.5(EZH2):c.1947+10T>G	Weaver syndrome [RCV003502956]	likely benign	7	148811615	148811615	Human	1	name
402470545	CV2891866	single nucleotide variant	NM_004456.5(EZH2):c.1410+11C>T	Weaver syndrome [RCV003504189]	likely benign	7	148817211	148817211	Human	1	name
402469900	CV2892359	single nucleotide variant	NM_004456.5(EZH2):c.2030-20G>A	Weaver syndrome [RCV003504247]	likely benign	7	148809410	148809410	Human	1	name
405130757	CV2902458	single nucleotide variant	NM_004456.5(EZH2):c.1948-18C>T	Weaver syndrome [RCV003502110]	likely benign	7	148810432	148810432	Human	1	name
405131192	CV2906177	single nucleotide variant	NM_004456.5(EZH2):c.1672+19G>C	Weaver syndrome [RCV003502155]	likely benign	7	148814895	148814895	Human	1	name
405133916	CV2908243	single nucleotide variant	NM_004456.5(EZH2):c.1672+14G>A	Weaver syndrome [RCV003502443]	likely benign	7	148814900	148814900	Human	1	name
405133508	CV2918508	single nucleotide variant	NM_004456.5(EZH2):c.1948-16G>C	Weaver syndrome [RCV003502401]	likely benign	7	148810430	148810430	Human	1	name
402466460	CV2924765	single nucleotide variant	NM_004456.5(EZH2):c.2110+17T>C	Weaver syndrome [RCV003503189]	likely benign	7	148809293	148809293	Human	1	name
402466550	CV2925492	single nucleotide variant	NM_004456.5(EZH2):c.1546+19C>G	Weaver syndrome [RCV003503305]	likely benign	7	148815487	148815487	Human	1	name
405064412	CV2946415	single nucleotide variant	NM_004456.5(EZH2):c.1505+12A>T	Weaver syndrome [RCV003611680]	likely benign	7	148816672	148816672	Human	1	name
405084087	CV2993619	single nucleotide variant	NM_004456.5(EZH2):c.1240+13T>G	Weaver syndrome [RCV003613185]	likely benign	7	148817864	148817864	Human	1	name
405083079	CV3002483	single nucleotide variant	NM_004456.5(EZH2):c.1672+20A>G	Weaver syndrome [RCV003613104]	likely benign	7	148814894	148814894	Human	1	name
405087064	CV3010791	single nucleotide variant	NM_004456.5(EZH2):c.1000-13T>C	Weaver syndrome [RCV003613422]	likely benign	7	148818130	148818130	Human	1	name
405062431	CV3045056	single nucleotide variant	NM_004456.5(EZH2):c.1000-14T>G	Weaver syndrome [RCV003611450]	likely benign	7	148818131	148818131	Human	1	name
405060802	CV3053009	single nucleotide variant	NM_004456.5(EZH2):c.2030-10T>C	Weaver syndrome [RCV003611312]	likely benign	7	148809400	148809400	Human	1	name
12842638	CV369010	single nucleotide variant	NM_004456.5(EZH2):c.2196-20T>C	not provided [RCV004712781]\|not specified [RCV000434783]	benign	7	148807726	148807726	Human		name
12838415	CV369014	single nucleotide variant	NM_004456.5(EZH2):c.2029+17G>A	Weaver syndrome [RCV002060036]\|not specified [RCV000426923]	likely benign	7	148810316	148810316	Human	1	name
12842984	CV369309	single nucleotide variant	NM_004456.5(EZH2):c.1410+19A>G	Weaver syndrome [RCV003114570]\|not specified [RCV000435403]	likely benign	7	148817203	148817203	Human	1	name
12841278	CV369582	single nucleotide variant	NM_004456.5(EZH2):c.1506-19T>G	Weaver syndrome [RCV002058938]\|not specified [RCV000432279]	benign\|likely benign	7	148815565	148815565	Human	1	name
12839197	CV370962	single nucleotide variant	NM_004456.5(EZH2):c.1547-10C>T	EZH2-related disorder [RCV004533109]\|Weaver syndrome [RCV000862230]\|not provided [RCV001698345]	benign\|likely benign	7	148815049	148815049	Human	1	name , trait
597918813	CV3737887	deletion	NM_004456.5(EZH2):c.1506-17del	Weaver syndrome [RCV005074486]	benign	7	148815563	148815563	Human	1	name
597911080	CV3745548	single nucleotide variant	NM_004456.5(EZH2):c.1546+20T>C	Weaver syndrome [RCV005073549]	likely benign	7	148815486	148815486	Human	1	name
597962625	CV3841040	single nucleotide variant	NM_004456.5(EZH2):c.1505+10T>A	Weaver syndrome [RCV005193333]	likely benign	7	148816674	148816674	Human	1	name
597927952	CV3851713	single nucleotide variant	NM_004456.5(EZH2):c.1947+12A>G	Weaver syndrome [RCV005206181]	likely benign	7	148811613	148811613	Human	1	name
597866347	CV3857786	single nucleotide variant	NM_004456.5(EZH2):c.1948-20T>C	Weaver syndrome [RCV005196733]	likely benign	7	148810434	148810434	Human	1	name
13540412	CV502279	single nucleotide variant	NM_004456.5(EZH2):c.1505+12A>G	Weaver syndrome [RCV002064245]\|not specified [RCV000614661]	benign\|likely benign	7	148816672	148816672	Human	1	name
14716126	CV662278	single nucleotide variant	NM_004456.5(EZH2):c.1852-21T>C	Weaver syndrome [RCV001702563]\|not provided [RCV000829625]	benign	7	148811741	148811741	Human	1	name
14733993	CV662282	single nucleotide variant	NM_004456.5(EZH2):c.246+229G>A	not provided [RCV000837351]	likely benign	7	148846241	148846241	Human		name
14729540	CV662776	single nucleotide variant	NM_004456.5(EZH2):c.1240+35T>C	not provided [RCV000835268]	likely benign	7	148817842	148817842	Human		name
14709082	CV662777	deletion	NM_004456.5(EZH2):c.246+260del	not provided [RCV000833346]	likely benign	7	148846210	148846210	Human		name
14724180	CV662815	duplication	NM_004456.5(EZH2):c.1948-29dup	not provided [RCV000832868]	benign	7	148810442	148810443	Human		name
14739412	CV662836	single nucleotide variant	NM_004456.5(EZH2):c.2195+99T>C	not provided [RCV000839863]	benign	7	148808972	148808972	Human		name
14716129	CV662837	single nucleotide variant	NM_004456.5(EZH2):c.2110+39A>C	not provided [RCV000829626]	benign	7	148809271	148809271	Human		name
15149997	CV689858	single nucleotide variant	NM_004456.5(EZH2):c.1240+10G>A	Weaver syndrome [RCV001407257]	likely benign	7	148817867	148817867	Human	1	name
15189620	CV744339	single nucleotide variant	NM_004456.5(EZH2):c.2029+10A>G	Weaver syndrome [RCV001477714]	likely benign	7	148810323	148810323	Human	1	name
150336456	CV1171688	single nucleotide variant	NM_004456.5(EZH2):c.1506-239T>C	not provided [RCV001540996]	likely benign	7	148815785	148815785	Human		name
150418351	CV1180298	single nucleotide variant	NM_004456.5(EZH2):c.1673-279G>A	not provided [RCV001550564]	likely benign	7	148814416	148814416	Human		name
150424204	CV1183953	single nucleotide variant	NM_004456.5(EZH2):c.2196-188C>G	not provided [RCV001556355]	likely benign	7	148807894	148807894	Human		name
150424239	CV1183954	single nucleotide variant	NM_004456.5(EZH2):c.2029+127G>A	not provided [RCV001556402]	likely benign	7	148810206	148810206	Human		name
150424282	CV1183955	single nucleotide variant	NM_004456.5(EZH2):c.1506-304C>T	not provided [RCV001556457]	likely benign	7	148815850	148815850	Human		name
150427349	CV1187208	single nucleotide variant	NM_004456.5(EZH2):c.2029+104A>G	not provided [RCV001560808]	likely benign	7	148810229	148810229	Human		name
150409757	CV1190633	single nucleotide variant	NM_004456.5(EZH2):c.2195+110G>A	not provided [RCV001565770]	likely benign	7	148808961	148808961	Human		name
150437307	CV1200960	single nucleotide variant	NM_004456.5(EZH2):c.2195+152T>C	not provided [RCV001583040]	likely benign	7	148808919	148808919	Human		name
150475330	CV1217932	deletion	NM_004456.5(EZH2):c.2030-273del	not provided [RCV001615943]	benign	7	148809663	148809663	Human		name
150460712	CV1253146	deletion	NM_004456.5(EZH2):c.2196-109del	not provided [RCV001669475]	benign	7	148807815	148807815	Human		name
150454829	CV1266080	single nucleotide variant	NM_004456.5(EZH2):c.2195+178T>C	not provided [RCV001692657]	benign	7	148808893	148808893	Human		name
14715908	CV662274	single nucleotide variant	NM_004456.5(EZH2):c.2196-130T>G	not provided [RCV000829547]	likely benign	7	148807836	148807836	Human		name
14733998	CV662275	single nucleotide variant	NM_004456.5(EZH2):c.2196-244A>G	not provided [RCV000837353]	likely benign	7	148807950	148807950	Human		name
14724147	CV662816	single nucleotide variant	NM_004456.5(EZH2):c.1505+269G>C	not provided [RCV000832853]	benign	7	148816415	148816415	Human		name
14733995	CV662819	single nucleotide variant	NM_004456.5(EZH2):c.1240+170G>C	not provided [RCV000837352]	likely benign	7	148817707	148817707	Human		name
14739408	CV662843	single nucleotide variant	NM_004456.5(EZH2):c.1947+236T>C	not provided [RCV000839861]	benign	7	148811389	148811389	Human		name
14739410	CV662847	single nucleotide variant	NM_004456.5(EZH2):c.1241-135C>T	not provided [RCV000839862]	benign	7	148817526	148817526	Human		name
150336022	CV1164968	microsatellite	NM_004456.5(EZH2):c.728+222CA[3]	not provided [RCV001530656]	likely benign	7	148826935	148826936	Human		name
150408064	CV1176882	microsatellite	NM_004456.5(EZH2):c.364-132CT[2]	not provided [RCV001545771]	likely benign	7	148829975	148829976	Human		name
402465622	CV2909445	microsatellite	NM_004456.5(EZH2):c.2111-16GT[2]	Weaver syndrome [RCV003503056]	likely benign	7	148809166	148809167	Human		name
150486605	CV1225769	microsatellite	NM_004456.5(EZH2):c.118-284CA[18]	not provided [RCV001617930]	benign	7	148846839	148846846	Human		name
150500995	CV1238293	microsatellite	NM_004456.5(EZH2):c.118-284CA[16]	not provided [RCV001656723]	benign	7	148846839	148846850	Human		name
150430840	CV1243496	microsatellite	NM_004456.5(EZH2):c.118-284CA[17]	not provided [RCV001663115]	benign	7	148846839	148846848	Human		name
150478937	CV1258174	microsatellite	NM_004456.5(EZH2):c.118-284CA[19]	not provided [RCV001685589]	benign	7	148846839	148846844	Human		name
150484375	CV1263162	microsatellite	NM_004456.5(EZH2):c.118-284CA[20]	not provided [RCV001686562]	benign	7	148846839	148846842	Human		name
150467234	CV1277536	microsatellite	NM_004456.5(EZH2):c.118-284CA[21]	not provided [RCV001710831]	benign	7	148846839	148846840	Human		name
156371195	CV1923561	deletion	NM_004456.5(EZH2):c.364-9_364-8del	Weaver syndrome [RCV002633399]	benign	7	148829856	148829857	Human	1	name
11611824	CV310167	deletion	NM_004456.5(EZH2):c.118-5_118-4del	Weaver syndrome [RCV000399985]\|not provided [RCV003422353]	benign\|likely benign	7	148846602	148846603	Human	1	name
405291352	CV3222340	duplication	NM_004456.5(EZH2):c.2111-3_2115dup	Weaver syndrome [RCV003985222]	uncertain significance	7	148809150	148809151	Human	1	name
14707638	CV651779	duplication	NM_004456.5(EZH2):c.2196-10_2197dup	Weaver syndrome [RCV000797420]	likely pathogenic	7	148807704	148807705	Human	1	name
15190983	CV766163	single nucleotide variant	NM_004456.5(EZH2):c.12T>G (p.Thr4=)	Weaver syndrome [RCV001470667]	likely benign	7	148847287	148847287	Human	1	name
127234611	CV1074528	deletion	NM_004456.5(EZH2):c.1948-8_1948-4del	Weaver syndrome [RCV001414237]	likely benign	7	148810418	148810422	Human	1	name
150533343	CV1292585	deletion	NM_004456.5(EZH2):c.1672+4_1672+7del	not provided [RCV001754192]	uncertain significance	7	148814907	148814910	Human		name
152147395	CV1615657	deletion	NM_004456.5(EZH2):c.118-18_118-16del	Weaver syndrome [RCV002101689]	likely benign	7	148846614	148846616	Human	1	name
156162580	CV1872429	single nucleotide variant	NM_004456.5(EZH2):c.78G>A (p.Leu26=)	Weaver syndrome [RCV003056960]	likely benign	7	148847221	148847221	Human	1	name
156320092	CV2111943	microsatellite	NM_004456.5(EZH2):c.246+13_246+17del	Weaver syndrome [RCV002937692]	likely benign	7	148846453	148846457	Human		name
402469707	CV2885063	deletion	NM_004456.5(EZH2):c.118-22_118-18del	Weaver syndrome [RCV003504168]	likely benign	7	148846616	148846620	Human	1	name
405069229	CV3052806	single nucleotide variant	NM_004456.5(EZH2):c.51G>A (p.Lys17=)	Weaver syndrome [RCV003612035]	likely benign	7	148847248	148847248	Human	1	name
11604252	CV305366	single nucleotide variant	NM_004456.5(EZH2):c.87C>T (p.Leu29=)	Weaver syndrome [RCV003612429]	likely benign\|uncertain significance	7	148847212	148847212	Human	1	name
597702514	CV3718976	deletion	NM_004456.5(EZH2):c.1547-8_1547-7del	Weaver syndrome [RCV005033659]	uncertain significance	7	148815046	148815047	Human	1	name
597865785	CV3834364	deletion	NM_004456.5(EZH2):c.118-16_118-13del	Weaver syndrome [RCV005175731]	likely benign	7	148846611	148846614	Human	1	name
597945581	CV3844887	deletion	NM_004456.5(EZH2):c.908-21_908-19del	Weaver syndrome [RCV005188873]	likely benign	7	148819706	148819708	Human	1	name
38482424	CV924749	single nucleotide variant	NM_004456.5(EZH2):c.9G>C (p.Gln3His)	Weaver syndrome [RCV001218458]	uncertain significance	7	148847290	148847290	Human	1	name
127232789	CV1096163	single nucleotide variant	NM_004456.5(EZH2):c.186G>A (p.Gln62=)	Weaver syndrome [RCV001421446]	likely benign	7	148846530	148846530	Human	1	name
127327384	CV1138610	single nucleotide variant	NM_004456.5(EZH2):c.100C>A (p.Arg34=)	Weaver syndrome [RCV001506580]	likely benign	7	148847199	148847199	Human	1	name
152103028	CV1523993	single nucleotide variant	NM_004456.5(EZH2):c.177A>G (p.Glu59=)	Weaver syndrome [RCV002133503]	likely benign	7	148846539	148846539	Human	1	name
156239647	CV1882359	deletion	NM_004456.5(EZH2):c.1948-10_1948-9del	Weaver syndrome [RCV003085694]	likely benign	7	148810423	148810424	Human	1	name
405130947	CV2895783	single nucleotide variant	NM_004456.5(EZH2):c.285C>T (p.Val95=)	Weaver syndrome [RCV003502130]	likely benign	7	148832712	148832712	Human	1	name
405060185	CV3033467	single nucleotide variant	NM_004456.5(EZH2):c.237G>A (p.Gly79=)	Weaver syndrome [RCV003611255]	likely benign	7	148846479	148846479	Human	1	name
405070142	CV3061366	single nucleotide variant	NM_004456.5(EZH2):c.285C>A (p.Val95=)	Weaver syndrome [RCV003612122]	likely benign	7	148832712	148832712	Human	1	name
11603714	CV310287	single nucleotide variant	NM_004456.5(EZH2):c.234C>T (p.Arg78=)	Weaver syndrome [RCV000302575]	likely benign	7	148846482	148846482	Human	1	name
402473318	CV3172155	deletion	NM_004456.5(EZH2):c.2029+3_2029+25del	Weaver syndrome [RCV003874758]	uncertain significance	7	148810308	148810330	Human	1	name
597929668	CV3789216	single nucleotide variant	NM_004456.5(EZH2):c.234C>A (p.Arg78=)	Weaver syndrome [RCV005131497]	likely benign	7	148846482	148846482	Human	1	name
597881627	CV3822921	single nucleotide variant	NM_004456.5(EZH2):c.252G>T (p.Ser84=)	Weaver syndrome [RCV005178247]	likely benign	7	148832745	148832745	Human	1	name
15131587	CV683858	single nucleotide variant	NM_004456.5(EZH2):c.159G>A (p.Thr53=)	Weaver syndrome [RCV002536248]\|not provided [RCV003884750]	likely benign	7	148846557	148846557	Human	1	name
127297495	CV1117683	single nucleotide variant	NM_004456.5(EZH2):c.555C>T (p.Asp185=)	Weaver syndrome [RCV001477616]	likely benign	7	148828810	148828810	Human	1	name
127297926	CV1117684	single nucleotide variant	NM_004456.5(EZH2):c.318A>T (p.Ser106=)	Weaver syndrome [RCV001453171]	likely benign	7	148832679	148832679	Human	1	name
127291004	CV1155625	single nucleotide variant	NM_004456.5(EZH2):c.972T>G (p.Pro324=)	Weaver syndrome [RCV001510132]	benign	7	148819623	148819623	Human	1	name
150553156	CV1298186	single nucleotide variant	NM_004456.5(EZH2):c.38T>C (p.Val13Ala)	not provided [RCV001768799]	uncertain significance	7	148847261	148847261	Human		name
150552210	CV1302291	single nucleotide variant	NM_004456.5(EZH2):c.73C>T (p.Arg25Ter)	not provided [RCV001767555]	uncertain significance	7	148847226	148847226	Human		name
151355485	CV1328552	single nucleotide variant	NM_004456.5(EZH2):c.930T>G (p.Thr310=)	Weaver syndrome [RCV002074341]\|not specified [RCV001820557]	likely benign	7	148819665	148819665	Human	1	name
151798606	CV1347334	single nucleotide variant	NM_004456.5(EZH2):c.432T>G (p.Thr144=)	Weaver syndrome [RCV002027879]	uncertain significance	7	148829780	148829780	Human	1	name
151756082	CV1388014	single nucleotide variant	NM_004456.5(EZH2):c.98G>A (p.Arg33Lys)	Weaver syndrome [RCV001969677]	uncertain significance	7	148847201	148847201	Human	1	name
151890010	CV1394678	single nucleotide variant	NM_004456.5(EZH2):c.74G>A (p.Arg25Gln)	Weaver syndrome [RCV001888305]	uncertain significance	7	148847225	148847225	Human	1	name
151872056	CV1435116	single nucleotide variant	NM_004456.5(EZH2):c.71T>C (p.Met24Thr)	Weaver syndrome [RCV001939939]	uncertain significance	7	148847228	148847228	Human	1	name
152074403	CV1520930	deletion	NM_004456.5(EZH2):c.1000-19_1000-17del	Weaver syndrome [RCV002075531]	likely benign	7	148818134	148818136	Human	1	name
152151293	CV1550147	single nucleotide variant	NM_004456.5(EZH2):c.744C>G (p.Thr248=)	Weaver syndrome [RCV002202008]	likely benign	7	148826617	148826617	Human	1	name
152124934	CV1580599	duplication	NM_004456.5(EZH2):c.1411-17_1411-12dup	Weaver syndrome [RCV002082079]	likely benign	7	148816789	148816790	Human	1	name
152092867	CV1598564	single nucleotide variant	NM_004456.5(EZH2):c.531C>T (p.Ala177=)	Weaver syndrome [RCV002172062]	likely benign	7	148828834	148828834	Human	1	name
152073339	CV1598883	single nucleotide variant	NM_004456.5(EZH2):c.618C>T (p.His206=)	Weaver syndrome [RCV002148384]	likely benign	7	148828747	148828747	Human	1	name
152132134	CV1629980	single nucleotide variant	NM_004456.5(EZH2):c.792A>C (p.Ile264=)	Weaver syndrome [RCV002176940]	likely benign	7	148826569	148826569	Human	1	name
156387447	CV1875168	single nucleotide variant	NM_004456.5(EZH2):c.891T>C (p.His297=)	Weaver syndrome [RCV003050980]	likely benign	7	148826470	148826470	Human	1	name
156379341	CV1876862	single nucleotide variant	NM_004456.5(EZH2):c.603A>G (p.Lys201=)	Weaver syndrome [RCV003067034]	likely benign	7	148828762	148828762	Human	1	name
155976082	CV1886028	deletion	NM_004456.5(EZH2):c.1506-16_1506-13del	Weaver syndrome [RCV003075421]	uncertain significance	7	148815559	148815562	Human	1	name
156372298	CV1923697	single nucleotide variant	NM_004456.5(EZH2):c.714A>G (p.Glu238=)	Weaver syndrome [RCV002633504]	likely benign	7	148827178	148827178	Human	1	name
156118045	CV1927166	single nucleotide variant	NM_004456.5(EZH2):c.540A>G (p.Gln180=)	Weaver syndrome [RCV002640198]	likely benign	7	148828825	148828825	Human	1	name
156319315	CV1965950	single nucleotide variant	NM_004456.5(EZH2):c.720A>T (p.Leu240=)	Weaver syndrome [RCV002600130]	likely benign	7	148827172	148827172	Human	1	name
156050364	CV2093483	single nucleotide variant	NM_004456.5(EZH2):c.582A>G (p.Glu194=)	Weaver syndrome [RCV002867765]	likely benign	7	148828783	148828783	Human	1	name
156300639	CV2149747	deletion	NM_004456.5(EZH2):c.1506-22_1506-19del	Weaver syndrome [RCV003028074]	uncertain significance	7	148815565	148815568	Human	1	name
329953417	CV2668394	single nucleotide variant	NM_004456.5(EZH2):c.32G>T (p.Gly11Val)	not provided [RCV003230047]	uncertain significance	7	148847267	148847267	Human		name
401829427	CV2747297	deletion	NM_004456.5(EZH2):c.237del (p.Thr80fs)	not provided [RCV003328762]	uncertain significance	7	148846479	148846479	Human		name
405080375	CV2986054	single nucleotide variant	NM_004456.5(EZH2):c.813T>C (p.Ser271=)	Weaver syndrome [RCV003612859]	likely benign	7	148826548	148826548	Human	1	name
405086541	CV3006809	single nucleotide variant	NM_004456.5(EZH2):c.954A>T (p.Thr318=)	Weaver syndrome [RCV003613377]	likely benign	7	148819641	148819641	Human	1	name
405059767	CV3038739	single nucleotide variant	NM_004456.5(EZH2):c.906T>C (p.Tyr302=)	Weaver syndrome [RCV003611221]	uncertain significance	7	148826455	148826455	Human	1	name
405061289	CV3050422	single nucleotide variant	NM_004456.5(EZH2):c.741C>T (p.Leu247=)	Weaver syndrome [RCV003611355]	likely benign	7	148826620	148826620	Human	1	name
11606936	CV305365	single nucleotide variant	NM_004456.5(EZH2):c.396T>C (p.Pro132=)	EZH2-related disorder [RCV004530449]\|Weaver syndrome [RCV000337754]\|not provided [RCV001706592]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	148829816	148829816	Human	1	name , trait
405070539	CV3061611	single nucleotide variant	NM_004456.5(EZH2):c.492G>A (p.Gly164=)	Weaver syndrome [RCV003612150]	likely benign	7	148828873	148828873	Human	1	name
11611008	CV310164	single nucleotide variant	NM_004456.5(EZH2):c.657T>C (p.Pro219=)	Weaver syndrome [RCV000389465]\|not provided [RCV001356024]\|not specified [RCV001821092]	benign\|likely benign\|uncertain significance	7	148827235	148827235	Human	1	name
405122759	CV3131705	single nucleotide variant	NM_004456.5(EZH2):c.300T>C (p.Thr100=)	Weaver syndrome [RCV003837569]	likely benign	7	148832697	148832697	Human	1	name
596945852	CV3548017	single nucleotide variant	NM_004456.5(EZH2):c.480T>C (p.Asp160=)	not provided [RCV004809348]	likely benign	7	148829732	148829732	Human		name
597912955	CV3745774	microsatellite	NM_004456.5(EZH2):c.1411-13_1411-12del	Weaver syndrome [RCV005073775]	likely benign	7	148816790	148816791	Human		name
597948662	CV3759201	single nucleotide variant	NM_004456.5(EZH2):c.930T>A (p.Thr310=)	Weaver syndrome [RCV005078998]	likely benign	7	148819665	148819665	Human	1	name
597873328	CV3805467	duplication	NM_004456.5(EZH2):c.2030-20_2030-19dup	Weaver syndrome [RCV005148745]	benign	7	148809408	148809409	Human	1	name
597946038	CV3841560	single nucleotide variant	NM_004456.5(EZH2):c.53G>A (p.Arg18His)	Weaver syndrome [RCV005188993]\|not provided [RCV005416793]	uncertain significance	7	148847246	148847246	Human	1	name
597883266	CV3857693	single nucleotide variant	NM_004456.5(EZH2):c.70A>T (p.Met24Leu)	Weaver syndrome [RCV005199320]	uncertain significance	7	148847229	148847229	Human	1	name
598226154	CV3894346	single nucleotide variant	NM_004456.5(EZH2):c.405A>G (p.Gly135=)	not provided [RCV005257589]	likely benign	7	148829807	148829807	Human		name
12882025	CV395474	single nucleotide variant	NM_004456.5(EZH2):c.474C>T (p.His158=)	Weaver syndrome [RCV000458883]\|not provided [RCV005426059]	likely benign	7	148829738	148829738	Human	1	name
14739418	CV662829	duplication	NM_004456.5(EZH2):c.2196-61_2196-57dup	not provided [RCV000839865]	benign	7	148807762	148807763	Human		name
15152482	CV686994	single nucleotide variant	NM_004456.5(EZH2):c.933T>C (p.Tyr311=)	Weaver syndrome [RCV000867451]\|not provided [RCV004705827]	likely benign	7	148819662	148819662	Human	1	name
15152725	CV686995	single nucleotide variant	NM_004456.5(EZH2):c.573C>T (p.Asp191=)	Weaver syndrome [RCV000867497]	likely benign	7	148828792	148828792	Human	1	name
15100908	CV686996	single nucleotide variant	NM_004456.5(EZH2):c.537T>G (p.Gly179=)	Weaver syndrome [RCV001395273]	likely benign	7	148828828	148828828	Human	1	name
15105109	CV686997	single nucleotide variant	NM_004456.5(EZH2):c.372T>C (p.Asp124=)	Weaver syndrome [RCV001470531]	likely benign	7	148829840	148829840	Human	1	name
15127422	CV692177	single nucleotide variant	NM_004456.5(EZH2):c.963C>T (p.Asp321=)	Weaver syndrome [RCV000875306]	likely benign	7	148819632	148819632	Human	1	name
15137361	CV692178	single nucleotide variant	NM_004456.5(EZH2):c.732T>C (p.Tyr244=)	Weaver syndrome [RCV000876983]	likely benign	7	148826629	148826629	Human	1	name
40903481	CV977225	single nucleotide variant	NM_004456.5(EZH2):c.44G>T (p.Trp15Leu)	Weaver syndrome [RCV001270773]	uncertain significance	7	148847255	148847255	Human	1	name
127269082	CV1074526	single nucleotide variant	NM_004456.5(EZH2):c.2124C>T (p.Asn708=)	Weaver syndrome [RCV001404544]	likely benign	7	148809142	148809142	Human	1	name
127250230	CV1074529	single nucleotide variant	NM_004456.5(EZH2):c.1824C>T (p.Asn608=)	Weaver syndrome [RCV001399835]	likely benign	7	148813986	148813986	Human	1	name
127232534	CV1074531	single nucleotide variant	NM_004456.5(EZH2):c.1230G>A (p.Ser410=)	Weaver syndrome [RCV001413500]	likely benign	7	148817887	148817887	Human	1	name
127236884	CV1074532	single nucleotide variant	NM_004456.5(EZH2):c.1110C>T (p.Pro370=)	EZH2-related disorder [RCV004531263]\|Weaver syndrome [RCV001414756]\|not provided [RCV001565254]	likely benign	7	148818007	148818007	Human	1	name , trait
127273503	CV1096158	single nucleotide variant	NM_004456.5(EZH2):c.1686T>C (p.Phe562=)	Weaver syndrome [RCV001442565]	likely benign	7	148814124	148814124	Human	1	name
127274855	CV1096159	single nucleotide variant	NM_004456.5(EZH2):c.1680C>T (p.Asn560=)	Weaver syndrome [RCV001443042]	likely benign	7	148814130	148814130	Human	1	name
127246438	CV1096161	single nucleotide variant	NM_004456.5(EZH2):c.1362C>T (p.Asp454=)	Weaver syndrome [RCV001424515]	likely benign	7	148817270	148817270	Human	1	name
127238789	CV1096162	single nucleotide variant	NM_004456.5(EZH2):c.1140A>G (p.Ser380=)	Weaver syndrome [RCV001422990]	likely benign	7	148817977	148817977	Human	1	name
127315877	CV1155624	single nucleotide variant	NM_004456.5(EZH2):c.1392G>A (p.Gly464=)	Weaver syndrome [RCV001520193]\|not provided [RCV001676013]	benign	7	148817240	148817240	Human	1	name
150531761	CV1302021	deletion	NM_004456.5(EZH2):c.786del (p.Asn263fs)	not provided [RCV001757239]	uncertain significance	7	148826575	148826575	Human		name
150550272	CV1302727	single nucleotide variant	NM_004456.5(EZH2):c.125T>G (p.Phe42Cys)	not provided [RCV001752849]	uncertain significance	7	148846591	148846591	Human		name
151234663	CV1320400	single nucleotide variant	NM_004456.5(EZH2):c.218C>T (p.Ser73Phe)	not provided [RCV001800024]	uncertain significance	7	148846498	148846498	Human		name
151730821	CV1385269	single nucleotide variant	NM_004456.5(EZH2):c.251C>T (p.Ser84Leu)	Weaver syndrome [RCV001967091]	likely benign\|uncertain significance	7	148832746	148832746	Human	1	name
151805737	CV1462451	single nucleotide variant	NM_004456.5(EZH2):c.283G>A (p.Val95Ile)	Weaver syndrome [RCV001991358]	uncertain significance	7	148832714	148832714	Human	1	name
151783371	CV1491851	single nucleotide variant	NM_004456.5(EZH2):c.139C>G (p.Gln47Glu)	Weaver syndrome [RCV002026477]	likely benign\|uncertain significance	7	148846577	148846577	Human	1	name
152174914	CV1520544	single nucleotide variant	NM_004456.5(EZH2):c.2136G>A (p.Arg712=)	Weaver syndrome [RCV002184673]	likely benign	7	148809130	148809130	Human	1	name
152122169	CV1521568	single nucleotide variant	NM_004456.5(EZH2):c.2103T>C (p.Tyr701=)	Weaver syndrome [RCV002135847]	likely benign	7	148809317	148809317	Human	1	name
152063213	CV1542269	single nucleotide variant	NM_004456.5(EZH2):c.1614G>C (p.Ser538=)	Weaver syndrome [RCV002208954]	likely benign	7	148814972	148814972	Human	1	name
152085857	CV1567565	single nucleotide variant	NM_004456.5(EZH2):c.1263A>G (p.Thr421=)	Weaver syndrome [RCV002171159]	likely benign	7	148817369	148817369	Human	1	name
152050352	CV1569027	single nucleotide variant	NM_004456.5(EZH2):c.1206A>G (p.Glu402=)	Weaver syndrome [RCV002207442]	likely benign	7	148817911	148817911	Human	1	name
152167537	CV1577469	single nucleotide variant	NM_004456.5(EZH2):c.1809T>C (p.Asn603=)	Weaver syndrome [RCV002204730]	likely benign	7	148814001	148814001	Human	1	name
152142126	CV1587495	single nucleotide variant	NM_004456.5(EZH2):c.1413G>A (p.Val471=)	Weaver syndrome [RCV002138310]	likely benign	7	148816776	148816776	Human	1	name
152159912	CV1590030	single nucleotide variant	NM_004456.5(EZH2):c.1209A>G (p.Glu403=)	Weaver syndrome [RCV002203250]	likely benign	7	148817908	148817908	Human	1	name
152121381	CV1613186	single nucleotide variant	NM_004456.5(EZH2):c.1896T>C (p.Phe632=)	Weaver syndrome [RCV002154304]	likely benign	7	148811676	148811676	Human	1	name
152042869	CV1619716	single nucleotide variant	NM_004456.5(EZH2):c.1416T>C (p.Tyr472=)	Weaver syndrome [RCV002181488]\|not provided [RCV002188488]	benign\|likely benign	7	148816773	148816773	Human	1	name
152116979	CV1622943	single nucleotide variant	NM_004456.5(EZH2):c.1050C>A (p.Thr350=)	Weaver syndrome [RCV002117324]	likely benign	7	148818067	148818067	Human	1	name
152130339	CV1630947	single nucleotide variant	NM_004456.5(EZH2):c.1320T>A (p.Ala440=)	Weaver syndrome [RCV002119004]	likely benign	7	148817312	148817312	Human	1	name
152160366	CV1655670	single nucleotide variant	NM_004456.5(EZH2):c.1461T>C (p.Ala487=)	Weaver syndrome [RCV002203326]	likely benign	7	148816728	148816728	Human	1	name
9682488	CV168574	single nucleotide variant	NM_004456.5(EZH2):c.2028T>C (p.Asn676=)	Weaver syndrome [RCV001088620]\|not provided [RCV000514924]\|not specified [RCV000145974]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	148810334	148810334	Human	1	name
9682487	CV168575	single nucleotide variant	NM_004456.5(EZH2):c.1884C>G (p.Gly628=)	Weaver syndrome [RCV000145973]\|not provided [RCV003992196]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	148811688	148811688	Human	1	name
9682484	CV168578	single nucleotide variant	NM_004456.5(EZH2):c.1731G>A (p.Pro577=)	Weaver syndrome [RCV000232598]\|not provided [RCV001610446]\|not specified [RCV000145970]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	148814079	148814079	Human	1	name
9682483	CV168579	single nucleotide variant	NM_004456.5(EZH2):c.1017T>C (p.Phe339=)	Weaver syndrome [RCV000225902]\|not provided [RCV001650996]\|not specified [RCV000145969]	benign	7	148818100	148818100	Human	1	name
153349373	CV1693186	single nucleotide variant	NM_004456.5(EZH2):c.101G>A (p.Arg34Gln)	not provided [RCV002275774]	uncertain significance	7	148847198	148847198	Human		name
156009736	CV1870750	single nucleotide variant	NM_004456.5(EZH2):c.1560C>T (p.Asn520=)	Weaver syndrome [RCV003077017]	likely benign	7	148815026	148815026	Human	1	name
156394948	CV1877027	single nucleotide variant	NM_004456.5(EZH2):c.1335T>C (p.Phe445=)	Weaver syndrome [RCV003068487]	likely benign	7	148817297	148817297	Human	1	name
156298654	CV1890695	single nucleotide variant	NM_004456.5(EZH2):c.265T>A (p.Leu89Met)	Weaver syndrome [RCV003087813]	likely benign	7	148832732	148832732	Human	1	name
156026832	CV1893279	single nucleotide variant	NM_004456.5(EZH2):c.2130T>C (p.Asp710=)	Weaver syndrome [RCV003077913]	likely benign	7	148809136	148809136	Human	1	name
156032528	CV1910913	single nucleotide variant	NM_004456.5(EZH2):c.1899C>A (p.Ile633=)	Weaver syndrome [RCV002619915]	likely benign	7	148811673	148811673	Human	1	name
155949723	CV1921862	single nucleotide variant	NM_004456.5(EZH2):c.1032C>T (p.Thr344=)	Weaver syndrome [RCV002616155]	likely benign	7	148818085	148818085	Human	1	name
156410173	CV1932194	single nucleotide variant	NM_004456.5(EZH2):c.239C>T (p.Thr80Ile)	Weaver syndrome [RCV002607782]	uncertain significance	7	148846477	148846477	Human	1	name
156436172	CV1948652	single nucleotide variant	NM_004456.5(EZH2):c.1908T>C (p.Pro636=)	Weaver syndrome [RCV003118431]	likely benign	7	148811664	148811664	Human	1	name
156342049	CV1957916	single nucleotide variant	NM_004456.5(EZH2):c.2166G>A (p.Gln722=)	Weaver syndrome [RCV002580560]	likely benign	7	148809100	148809100	Human	1	name
156379476	CV1997713	single nucleotide variant	NM_004456.5(EZH2):c.284T>G (p.Val95Gly)	Weaver syndrome [RCV002653558]	uncertain significance	7	148832713	148832713	Human	1	name
10766695	CV204426	single nucleotide variant	NM_004456.5(EZH2):c.149T>C (p.Leu50Ser)	Weaver syndrome [RCV000204286]	pathogenic\|conflicting interpretations of pathogenicity	7	148846567	148846567	Human	1	name
156051145	CV2093512	single nucleotide variant	NM_004456.5(EZH2):c.1698C>T (p.Arg566=)	Weaver syndrome [RCV002867787]	likely benign	7	148814112	148814112	Human	1	name
156208600	CV2103186	single nucleotide variant	NM_004456.5(EZH2):c.188G>A (p.Arg63Gln)	Weaver syndrome [RCV002918073]	uncertain significance	7	148846528	148846528	Human	1	name
156219210	CV2104704	single nucleotide variant	NM_004456.5(EZH2):c.1779T>C (p.Cys593=)	Weaver syndrome [RCV002932389]	likely benign	7	148814031	148814031	Human	1	name
156220248	CV2124329	single nucleotide variant	NM_004456.5(EZH2):c.1689G>T (p.Pro563=)	Weaver syndrome [RCV002958114]	likely benign	7	148814121	148814121	Human	1	name
156340592	CV2127365	single nucleotide variant	NM_004456.5(EZH2):c.233G>A (p.Arg78His)	Weaver syndrome [RCV002938877]	benign	7	148846483	148846483	Human	1	name
156320308	CV2138024	single nucleotide variant	NM_004456.5(EZH2):c.1815C>T (p.Ser605=)	Weaver syndrome [RCV002963151]	likely benign	7	148813995	148813995	Human	1	name
156061492	CV2280418	deletion	NM_004456.5(EZH2):c.-1_2del (p.Met1del)	Inborn genetic diseases [RCV002868174]\|Weaver syndrome [RCV003502687]	uncertain significance	7	148847297	148847299	Human	2	name
243052614	CV2404425	single nucleotide variant	NM_004456.5(EZH2):c.235G>A (p.Gly79Arg)	Weaver syndrome [RCV003447646]\|not provided [RCV003129451]	likely pathogenic\|uncertain significance	7	148846481	148846481	Human	1	name
401922849	CV2823308	single nucleotide variant	NM_004456.5(EZH2):c.1917A>G (p.Lys639=)	not provided [RCV003434223]	likely benign	7	148811655	148811655	Human		name
401909077	CV2823309	single nucleotide variant	NM_004456.5(EZH2):c.1695C>T (p.Cys565=)	not provided [RCV003423819]	likely benign	7	148814115	148814115	Human		name
401944848	CV2840651	single nucleotide variant	NM_004456.5(EZH2):c.182A>G (p.Lys61Arg)	Weaver syndrome [RCV005100118]\|not provided [RCV003457524]	uncertain significance	7	148846534	148846534	Human	1	name
402470972	CV2894393	single nucleotide variant	NM_004456.5(EZH2):c.1218A>G (p.Lys406=)	Weaver syndrome [RCV003504520]	likely benign	7	148817899	148817899	Human	1	name
405130736	CV2902344	single nucleotide variant	NM_004456.5(EZH2):c.2058T>G (p.Gly686=)	Weaver syndrome [RCV003502108]	likely benign	7	148809362	148809362	Human	1	name
402466791	CV2931845	single nucleotide variant	NM_004456.5(EZH2):c.1707A>T (p.Ala569=)	Weaver syndrome [RCV003503371]	likely benign	7	148814103	148814103	Human	1	name
405086186	CV3006103	single nucleotide variant	NM_004456.5(EZH2):c.1347T>C (p.Ile449=)	Weaver syndrome [RCV003613349]	likely benign	7	148817285	148817285	Human	1	name
405058231	CV3020678	single nucleotide variant	NM_004456.5(EZH2):c.1551C>G (p.Gly517=)	Weaver syndrome [RCV003611123]	likely benign	7	148815035	148815035	Human	1	name
405061365	CV3046982	single nucleotide variant	NM_004456.5(EZH2):c.241A>G (p.Arg81Gly)	Weaver syndrome [RCV003611361]	uncertain significance	7	148846475	148846475	Human	1	name
405061697	CV3047463	single nucleotide variant	NM_004456.5(EZH2):c.1467T>C (p.Asp489=)	Weaver syndrome [RCV003611391]	likely benign	7	148816722	148816722	Human	1	name
405062919	CV3055736	single nucleotide variant	NM_004456.5(EZH2):c.208A>G (p.Ile70Val)	Weaver syndrome [RCV003611490]	uncertain significance	7	148846508	148846508	Human	1	name
405068627	CV3055983	single nucleotide variant	NM_004456.5(EZH2):c.1659A>G (p.Gln553=)	Weaver syndrome [RCV003611993]	likely benign	7	148814927	148814927	Human	1	name
405069774	CV3057936	single nucleotide variant	NM_004456.5(EZH2):c.2199C>T (p.Tyr733=)	Weaver syndrome [RCV003612098]	likely benign	7	148807703	148807703	Human	1	name
405071303	CV3065055	single nucleotide variant	NM_004456.5(EZH2):c.1014G>A (p.Glu338=)	Weaver syndrome [RCV003612142]	likely benign	7	148818103	148818103	Human	1	name
405070386	CV3068657	single nucleotide variant	NM_004456.5(EZH2):c.1749A>G (p.Arg583=)	Weaver syndrome [RCV003612139]	likely benign	7	148814061	148814061	Human	1	name
405070744	CV3069179	single nucleotide variant	NM_004456.5(EZH2):c.2214C>T (p.Ala738=)	Weaver syndrome [RCV003612164]	likely benign	7	148807688	148807688	Human	1	name
405074605	CV3074283	single nucleotide variant	NM_004456.5(EZH2):c.1488A>G (p.Lys496=)	Weaver syndrome [RCV003612405]	likely benign	7	148816701	148816701	Human	1	name
405074777	CV3077126	single nucleotide variant	NM_004456.5(EZH2):c.1413G>T (p.Val471=)	Weaver syndrome [RCV003612442]	likely benign	7	148816776	148816776	Human	1	name
11607909	CV310275	single nucleotide variant	NM_004456.5(EZH2):c.1281A>G (p.Pro427=)	Weaver syndrome [RCV001515588]	benign\|likely benign	7	148817351	148817351	Human	1	name
405237385	CV3166874	single nucleotide variant	NM_004456.5(EZH2):c.1458C>G (p.Pro486=)	Weaver syndrome [RCV003854128]	likely benign	7	148816731	148816731	Human	1	name
407427269	CV3410569	single nucleotide variant	NM_004456.5(EZH2):c.137G>A (p.Arg46His)	not specified [RCV004586216]	uncertain significance	7	148846579	148846579	Human		name
408369171	CV3508829	single nucleotide variant	NM_004456.5(EZH2):c.1950T>C (p.Ile650=)	EZH2-related disorder [RCV004736612]	likely benign	7	148810412	148810412	Human		name , trait
12837223	CV369004	single nucleotide variant	NM_004456.5(EZH2):c.2232C>T (p.Ile744=)	Weaver syndrome [RCV001497903]\|not specified [RCV000424794]	likely benign	7	148807670	148807670	Human	1	name
597963867	CV3792058	single nucleotide variant	NM_004456.5(EZH2):c.1428C>A (p.Val476=)	Weaver syndrome [RCV005139614]	likely benign	7	148816761	148816761	Human	1	name
597865634	CV3792608	single nucleotide variant	NM_004456.5(EZH2):c.1875C>T (p.Asp625=)	Weaver syndrome [RCV005147415]	likely benign	7	148811697	148811697	Human	1	name
597974349	CV3802123	single nucleotide variant	NM_004456.5(EZH2):c.1245A>G (p.Ala415=)	Weaver syndrome [RCV005143899]	likely benign	7	148817387	148817387	Human	1	name
597869979	CV3803557	single nucleotide variant	NM_004456.5(EZH2):c.148T>G (p.Leu50Val)	Weaver syndrome [RCV005148155]	likely benign	7	148846568	148846568	Human	1	name
597872378	CV3805312	single nucleotide variant	NM_004456.5(EZH2):c.1353T>C (p.Thr451=)	Weaver syndrome [RCV005148590]	likely benign	7	148817279	148817279	Human	1	name
597900804	CV3835427	single nucleotide variant	NM_004456.5(EZH2):c.2250C>T (p.Ile750=)	Weaver syndrome [RCV005181150]	likely benign	7	148807652	148807652	Human	1	name
597871713	CV3835741	single nucleotide variant	NM_004456.5(EZH2):c.2034T>C (p.Phe678=)	Weaver syndrome [RCV005176732]	likely benign	7	148809386	148809386	Human	1	name
597890043	CV3839684	single nucleotide variant	NM_004456.5(EZH2):c.1890G>A (p.Gly630=)	Weaver syndrome [RCV005179576]	benign	7	148811682	148811682	Human	1	name
597960427	CV3843653	single nucleotide variant	NM_004456.5(EZH2):c.1221T>C (p.Asp407=)	Weaver syndrome [RCV005192690]	likely benign	7	148817896	148817896	Human	1	name
597876388	CV3846464	single nucleotide variant	NM_004456.5(EZH2):c.1704A>G (p.Lys568=)	Weaver syndrome [RCV005177347]	likely benign	7	148814106	148814106	Human	1	name
597935519	CV3863704	single nucleotide variant	NM_004456.5(EZH2):c.226T>A (p.Ser76Thr)	not provided [RCV005207517]	uncertain significance	7	148846490	148846490	Human		name
12888483	CV395480	single nucleotide variant	NM_004456.5(EZH2):c.165C>G (p.Ile55Met)	EZH2-related disorder [RCV004539955]\|Weaver syndrome [RCV001088260]\|not provided [RCV000520518]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	148846551	148846551	Human	1	name , trait
598211680	CV3955004	single nucleotide variant	NM_004456.5(EZH2):c.119G>C (p.Ser40Thr)	Inborn genetic diseases [RCV005338958]	uncertain significance	7	148846597	148846597	Human	1	name
12882881	CV396125	single nucleotide variant	NM_004456.5(EZH2):c.2226C>T (p.Val742=)	EZH2-related disorder [RCV004535492]\|Weaver syndrome [RCV000460480]\|not provided [RCV001536219]	likely benign	7	148807676	148807676	Human	1	name , trait
616938108	CV4013384	single nucleotide variant	NM_004456.5(EZH2):c.106G>A (p.Asp36Asn)	not provided [RCV005410851]	uncertain significance	7	148847193	148847193	Human		name
13488143	CV444098	single nucleotide variant	NM_004456.5(EZH2):c.158C>T (p.Thr53Met)	Weaver syndrome [RCV005091229]\|not provided [RCV000523469]	likely benign\|uncertain significance	7	148846558	148846558	Human	1	name
13470846	CV456459	single nucleotide variant	NM_004456.5(EZH2):c.1719C>A (p.Thr573=)	EZH2-related disorder [RCV004537909]\|Weaver syndrome [RCV001516344]	benign\|likely benign	7	148814091	148814091	Human	1	name , trait
13535304	CV501632	single nucleotide variant	NM_004456.5(EZH2):c.1245A>C (p.Ala415=)	Weaver syndrome [RCV001445671]\|not specified [RCV000607680]	likely benign	7	148817387	148817387	Human	1	name
13617231	CV522435	single nucleotide variant	NM_004456.5(EZH2):c.1104C>T (p.Ser368=)	Weaver syndrome [RCV000634027]	likely benign	7	148818013	148818013	Human	1	name
14732705	CV635882	single nucleotide variant	NM_004456.5(EZH2):c.118A>G (p.Ser40Gly)	Weaver syndrome [RCV000818401]	uncertain significance	7	148846598	148846598	Human	1	name
15134593	CV683854	single nucleotide variant	NM_004456.5(EZH2):c.1548C>T (p.Asp516=)	Weaver syndrome [RCV000864162]	likely benign	7	148815038	148815038	Human	1	name
15119401	CV683855	single nucleotide variant	NM_004456.5(EZH2):c.1458C>T (p.Pro486=)	Weaver syndrome [RCV000861500]\|not provided [RCV004705794]	likely benign	7	148816731	148816731	Human	1	name
15130615	CV683856	single nucleotide variant	NM_004456.5(EZH2):c.1452A>G (p.Pro484=)	Weaver syndrome [RCV000863463]	benign	7	148816737	148816737	Human	1	name
15126535	CV683857	single nucleotide variant	NM_004456.5(EZH2):c.1179G>A (p.Thr393=)	Weaver syndrome [RCV003611536]	likely benign	7	148817938	148817938	Human	1	name
15150946	CV686986	single nucleotide variant	NM_004456.5(EZH2):c.2172C>T (p.Gly724=)	Weaver syndrome [RCV000867146]	likely benign	7	148809094	148809094	Human	1	name
15143643	CV686987	single nucleotide variant	NM_004456.5(EZH2):c.1983A>G (p.Lys661=)	Weaver syndrome [RCV000865770]\|not provided [RCV001312156]	benign\|likely benign	7	148810379	148810379	Human	1	name
15138589	CV686988	single nucleotide variant	NM_004456.5(EZH2):c.1905T>C (p.Asp635=)	Weaver syndrome [RCV000864862]\|not provided [RCV003884753]	likely benign	7	148811667	148811667	Human	1	name
15138794	CV686989	single nucleotide variant	NM_004456.5(EZH2):c.1785C>T (p.Ala595=)	Weaver syndrome [RCV002536265]	likely benign	7	148814025	148814025	Human	1	name
15146760	CV686990	single nucleotide variant	NM_004456.5(EZH2):c.1689G>C (p.Pro563=)	Weaver syndrome [RCV002064535]	likely benign	7	148814121	148814121	Human	1	name
15103993	CV686991	single nucleotide variant	NM_004456.5(EZH2):c.1377T>C (p.Ile459=)	Weaver syndrome [RCV002539956]	likely benign	7	148817255	148817255	Human	1	name
15142246	CV686992	single nucleotide variant	NM_004456.5(EZH2):c.1302T>C (p.Asn434=)	Weaver syndrome [RCV000865510]	likely benign	7	148817330	148817330	Human	1	name
15154560	CV686993	single nucleotide variant	NM_004456.5(EZH2):c.1179G>T (p.Thr393=)	Weaver syndrome [RCV000867877]	likely benign	7	148817938	148817938	Human	1	name
15116787	CV692175	single nucleotide variant	NM_004456.5(EZH2):c.2223T>C (p.Tyr741=)	Weaver syndrome [RCV001441674]	likely benign	7	148807679	148807679	Human	1	name
15133242	CV692176	single nucleotide variant	NM_004456.5(EZH2):c.1179G>C (p.Thr393=)	Weaver syndrome [RCV000876283]	likely benign	7	148817938	148817938	Human	1	name
15192055	CV766162	single nucleotide variant	NM_004456.5(EZH2):c.2049C>T (p.Thr683=)	not provided [RCV000932975]	likely benign	7	148809371	148809371	Human		name
15137436	CV782817	single nucleotide variant	NM_004456.5(EZH2):c.2217G>T (p.Leu739=)	Weaver syndrome [RCV001393665]	likely benign	7	148807685	148807685	Human	1	name
26887124	CV833308	single nucleotide variant	NM_004456.5(EZH2):c.1947G>A (p.Glu649=)	Weaver syndrome [RCV001044667]	uncertain significance	7	148811625	148811625	Human	1	name
26902304	CV833310	single nucleotide variant	NM_004456.5(EZH2):c.232C>T (p.Arg78Cys)	Weaver syndrome [RCV001050174]	benign\|uncertain significance	7	148846484	148846484	Human	1	name
38500193	CV955088	single nucleotide variant	NM_004456.5(EZH2):c.2040G>A (p.Val680=)	Weaver syndrome [RCV001245565]	likely benign\|uncertain significance	7	148809380	148809380	Human	1	name
126739519	CV1007329	single nucleotide variant	NM_004456.5(EZH2):c.559G>A (p.Asp187Asn)	Weaver syndrome [RCV001325063]	benign\|uncertain significance	7	148828806	148828806	Human	1	name
126755061	CV1007330	single nucleotide variant	NM_004456.5(EZH2):c.442G>A (p.Glu148Lys)	Weaver syndrome [RCV001316852]	uncertain significance	7	148829770	148829770	Human	1	name
126749997	CV1027878	single nucleotide variant	NM_004456.5(EZH2):c.545A>G (p.Asn182Ser)	Weaver syndrome [RCV001352156]	benign\|uncertain significance	7	148828820	148828820	Human	1	name
126923084	CV1044801	single nucleotide variant	NM_004456.5(EZH2):c.811T>C (p.Ser271Pro)	Weaver syndrome [RCV001365436]	uncertain significance	7	148826550	148826550	Human	1	name
126909096	CV1053090	single nucleotide variant	NM_004456.5(EZH2):c.457T>C (p.Tyr153His)	Neurodevelopmental disorder [RCV001374952]	likely pathogenic	7	148829755	148829755	Human	1	name
150446180	CV1261325	deletion	NM_004456.5(EZH2):c.2196-115_2196-109del	not provided [RCV001679999]	benign	7	148807815	148807821	Human		name
150452409	CV1275257	single nucleotide variant	NM_004456.5(EZH2):c.472C>T (p.His158Tyr)	Weaver syndrome [RCV001706770]	likely pathogenic	7	148829740	148829740	Human	1	name
150500034	CV1283200	deletion	NM_004456.5(EZH2):c.2196-111_2196-109del	not provided [RCV001718310]	benign	7	148807815	148807817	Human		name
150515963	CV1285715	deletion	NM_004456.5(EZH2):c.2196-110_2196-109del	not provided [RCV001723168]	benign	7	148807815	148807816	Human		name
150542481	CV1302614	single nucleotide variant	NM_004456.5(EZH2):c.343C>G (p.Pro115Ala)	not provided [RCV001761304]	uncertain significance	7	148832654	148832654	Human		name
150553355	CV1303339	single nucleotide variant	NM_004456.5(EZH2):c.892C>T (p.Arg298Cys)	not provided [RCV001769029]	uncertain significance	7	148826469	148826469	Human		name
150557013	CV1310336	single nucleotide variant	NM_004456.5(EZH2):c.386A>G (p.His129Arg)	Weaver syndrome [RCV001775264]	likely pathogenic\|conflicting interpretations of pathogenicity	7	148829826	148829826	Human	1	name
151831309	CV1373369	single nucleotide variant	NM_004456.5(EZH2):c.626A>T (p.Asp209Val)	Weaver syndrome [RCV001901838]	uncertain significance	7	148827266	148827266	Human	1	name
8687509	CV137963	single nucleotide variant	NM_004456.5(EZH2):c.553G>C (p.Asp185His)	Weaver syndrome [RCV001520862]\|not provided [RCV004710515]\|not specified [RCV000120897]	benign\|not provided	7	148828812	148828812	Human	1	name
8687510	CV137964	single nucleotide variant	NM_004456.5(EZH2):c.848C>T (p.Thr283Met)	not provided [RCV003221809]\|not specified [RCV000120898]	uncertain significance\|not provided	7	148826513	148826513	Human		name
8687511	CV137965	single nucleotide variant	NM_004456.5(EZH2):c.965A>G (p.Asn322Ser)	Weaver syndrome [RCV000634025]\|not specified [RCV000120899]	conflicting interpretations of pathogenicity\|uncertain significance\|not provided	7	148819630	148819630	Human	1	name
151748167	CV1383080	single nucleotide variant	NM_004456.5(EZH2):c.754C>T (p.Leu252Phe)	Weaver syndrome [RCV001947843]	uncertain significance	7	148826607	148826607	Human	1	name
151791357	CV1393244	single nucleotide variant	NM_004456.5(EZH2):c.604G>A (p.Asp202Asn)	Weaver syndrome [RCV001931449]	likely benign\|uncertain significance	7	148828761	148828761	Human	1	name
151771800	CV1431356	single nucleotide variant	NM_004456.5(EZH2):c.637C>T (p.Arg213Cys)	Weaver syndrome [RCV001915049]	likely benign\|uncertain significance	7	148827255	148827255	Human	1	name
151771031	CV1506015	single nucleotide variant	NM_004456.5(EZH2):c.557A>G (p.Asp186Gly)	Weaver syndrome [RCV001914977]	benign\|uncertain significance	7	148828808	148828808	Human	1	name
151889506	CV1516280	single nucleotide variant	NM_004456.5(EZH2):c.956C>T (p.Ala319Val)	Weaver syndrome [RCV002038615]	uncertain significance	7	148819639	148819639	Human	1	name
151810609	CV1516492	single nucleotide variant	NM_004456.5(EZH2):c.568G>A (p.Gly190Arg)	Weaver syndrome [RCV002012397]	uncertain significance	7	148828797	148828797	Human	1	name
153347608	CV1692124	single nucleotide variant	NM_004456.5(EZH2):c.920C>T (p.Thr307Ile)	not provided [RCV002273609]	uncertain significance	7	148819675	148819675	Human		name
155265176	CV1704641	single nucleotide variant	NM_004456.5(EZH2):c.817C>A (p.Gln273Lys)	not provided [RCV002284857]	uncertain significance	7	148826544	148826544	Human		name
155645109	CV1710589	single nucleotide variant	NM_004456.5(EZH2):c.914A>C (p.His305Pro)	not provided [RCV002293885]	uncertain significance	7	148819681	148819681	Human		name
155797137	CV1863192	single nucleotide variant	NM_004456.5(EZH2):c.532C>G (p.Leu178Val)	Weaver syndrome [RCV002470466]	uncertain significance	7	148828833	148828833	Human	1	name
155800379	CV1863478	single nucleotide variant	NM_004456.5(EZH2):c.395C>T (p.Pro132Leu)	Weaver syndrome [RCV002472351]	not provided	7	148829817	148829817	Human		name
156389976	CV1872558	single nucleotide variant	NM_004456.5(EZH2):c.563A>C (p.Asp188Ala)	Weaver syndrome [RCV003051209]	benign\|uncertain significance	7	148828802	148828802	Human	1	name
155988346	CV1884203	single nucleotide variant	NM_004456.5(EZH2):c.946A>G (p.Thr316Ala)	Weaver syndrome [RCV003075995]	uncertain significance	7	148819649	148819649	Human	1	name
156411024	CV1892856	single nucleotide variant	NM_004456.5(EZH2):c.709G>A (p.Ala237Thr)	Weaver syndrome [RCV003072303]	uncertain significance	7	148827183	148827183	Human	1	name
156293657	CV1926227	single nucleotide variant	NM_004456.5(EZH2):c.536G>C (p.Gly179Ala)	Weaver syndrome [RCV002647306]	uncertain significance	7	148828829	148828829	Human	1	name
156408700	CV1954483	single nucleotide variant	NM_004456.5(EZH2):c.899G>A (p.Cys300Tyr)	Weaver syndrome [RCV002586589]	uncertain significance	7	148826462	148826462	Human	1	name
10407989	CV204364	single nucleotide variant	NM_004456.5(EZH2):c.458A>G (p.Tyr153Cys)	Weaver syndrome [RCV000193211]	pathogenic\|not provided	7	148829754	148829754	Human	1	name
155991257	CV2095485	single nucleotide variant	NM_004456.5(EZH2):c.952A>G (p.Thr318Ala)	Weaver syndrome [RCV002908171]	likely benign	7	148819643	148819643	Human	1	name
156243621	CV2101570	single nucleotide variant	NM_004456.5(EZH2):c.763G>A (p.Ala255Thr)	Weaver syndrome [RCV002895002]	uncertain significance	7	148826598	148826598	Human	1	name
156208250	CV2103880	single nucleotide variant	NM_004456.5(EZH2):c.437T>C (p.Ile146Thr)	Weaver syndrome [RCV002931950]	uncertain significance	7	148829775	148829775	Human	1	name
156215589	CV2110929	single nucleotide variant	NM_004456.5(EZH2):c.764C>T (p.Ala255Val)	EZH2-related disorder [RCV004536452]\|Weaver syndrome [RCV002932246]	uncertain significance	7	148826597	148826597	Human	1	name , trait
156231957	CV2111782	single nucleotide variant	NM_004456.5(EZH2):c.647G>A (p.Arg216Gln)	Inborn genetic diseases [RCV002932866]\|Weaver syndrome [RCV002932865]	likely benign\|uncertain significance	7	148827245	148827245	Human	2	name
156092646	CV2135624	single nucleotide variant	NM_004456.5(EZH2):c.515T>C (p.Val172Ala)	Weaver syndrome [RCV003001890]	uncertain significance	7	148828850	148828850	Human	1	name
155984433	CV2136776	single nucleotide variant	NM_004456.5(EZH2):c.742A>G (p.Thr248Ala)	Weaver syndrome [RCV002996260]	uncertain significance	7	148826619	148826619	Human	1	name
155940573	CV2142901	single nucleotide variant	NM_004456.5(EZH2):c.963C>G (p.Asp321Glu)	Weaver syndrome [RCV002994025]	uncertain significance	7	148819632	148819632	Human	1	name
243058858	CV2409970	single nucleotide variant	NM_004456.5(EZH2):c.397T>G (p.Tyr133Asp)	Weaver syndrome [RCV003147144]	uncertain significance	7	148829815	148829815	Human	1	name
243058865	CV2409973	single nucleotide variant	NM_004456.5(EZH2):c.679A>G (p.Ile227Val)	Weaver syndrome [RCV003147147]	uncertain significance	7	148827213	148827213	Human	1	name
401828436	CV2743444	deletion	NM_004456.5(EZH2):c.1891del (p.Ile631fs)	Hereditary cancer-predisposing syndrome [RCV003326286]	likely pathogenic	7	148811681	148811681	Human	1	name
401829220	CV2747311	single nucleotide variant	NM_004456.5(EZH2):c.722A>C (p.Lys241Thr)	not provided [RCV003328776]	uncertain significance	7	148827170	148827170	Human		name
401933628	CV2799385	single nucleotide variant	NM_004456.5(EZH2):c.446T>C (p.Leu149Pro)	EZH2-related disorder [RCV004534263]	uncertain significance	7	148829766	148829766	Human		name , trait
401905765	CV2804615	single nucleotide variant	NM_004456.5(EZH2):c.835C>T (p.His279Tyr)	EZH2-related disorder [RCV004534416]	likely pathogenic	7	148826526	148826526	Human		name , trait
401909079	CV2823310	single nucleotide variant	NM_004456.5(EZH2):c.812C>T (p.Ser271Phe)	not provided [RCV003423820]	uncertain significance	7	148826549	148826549	Human		name
402467283	CV2856094	single nucleotide variant	NM_004456.5(EZH2):c.824A>C (p.Glu275Ala)	Weaver syndrome [RCV003503505]	uncertain significance	7	148826537	148826537	Human	1	name
405065750	CV2938363	single nucleotide variant	NM_004456.5(EZH2):c.900C>G (p.Cys300Trp)	Weaver syndrome [RCV003611788]	uncertain significance	7	148826461	148826461	Human	1	name
405077557	CV2964856	single nucleotide variant	NM_004456.5(EZH2):c.787A>G (p.Asn263Asp)	Weaver syndrome [RCV003612614]	uncertain significance	7	148826574	148826574	Human	1	name
405083020	CV2992149	single nucleotide variant	NM_004456.5(EZH2):c.549T>A (p.Asp183Glu)	Weaver syndrome [RCV003613098]	uncertain significance	7	148828816	148828816	Human	1	name
405074670	CV3071421	single nucleotide variant	NM_004456.5(EZH2):c.535G>A (p.Gly179Ser)	Weaver syndrome [RCV003612410]	uncertain significance	7	148828830	148828830	Human	1	name
405074869	CV3074622	single nucleotide variant	NM_004456.5(EZH2):c.310G>A (p.Val104Ile)	Weaver syndrome [RCV003612447]	uncertain significance	7	148832687	148832687	Human	1	name
405239650	CV3165979	single nucleotide variant	NM_004456.5(EZH2):c.968A>T (p.Lys323Ile)	Weaver syndrome [RCV003866991]	uncertain significance	7	148819627	148819627	Human	1	name
405212182	CV3173505	single nucleotide variant	NM_004456.5(EZH2):c.644C>T (p.Pro215Leu)	Weaver syndrome [RCV003862254]	uncertain significance	7	148827248	148827248	Human	1	name
405269437	CV3187362	single nucleotide variant	NM_004456.5(EZH2):c.394C>A (p.Pro132Thr)	not provided [RCV003887446]	likely pathogenic	7	148829818	148829818	Human		name
405288589	CV3193696	single nucleotide variant	NM_004456.5(EZH2):c.380T>G (p.Val127Gly)	EZH2-related disorder [RCV004542645]	uncertain significance	7	148829832	148829832	Human		name , trait
405697557	CV3226870	single nucleotide variant	NM_004456.5(EZH2):c.964A>C (p.Asn322His)	not provided [RCV003993264]	uncertain significance	7	148819631	148819631	Human		name
407500508	CV3438726	single nucleotide variant	NM_004456.5(EZH2):c.977G>T (p.Gly326Val)	Inborn genetic diseases [RCV004623046]	uncertain significance	7	148819618	148819618	Human	1	name
408392635	CV3519523	single nucleotide variant	NM_004456.5(EZH2):c.590A>G (p.Glu197Gly)	not provided [RCV004763819]	uncertain significance	7	148828775	148828775	Human		name
596921096	CV3534713	single nucleotide variant	NM_004456.5(EZH2):c.932A>C (p.Tyr311Ser)	not provided [RCV004784270]	uncertain significance	7	148819663	148819663	Human		name
597632762	CV3552898	single nucleotide variant	NM_004456.5(EZH2):c.434T>G (p.Phe145Cys)	not provided [RCV004823728]	likely pathogenic\|uncertain significance	7	148829778	148829778	Human		name
12848782	CV364164	single nucleotide variant	NM_004456.5(EZH2):c.745G>A (p.Glu249Lys)	not provided [RCV000418021]	uncertain significance	7	148826616	148826616	Human		name
597660133	CV3671553	single nucleotide variant	NM_004456.5(EZH2):c.806C>T (p.Ala269Val)	Inborn genetic diseases [RCV004977334]	uncertain significance	7	148826555	148826555	Human	1	name
597660141	CV3671555	single nucleotide variant	NM_004456.5(EZH2):c.561T>A (p.Asp187Glu)	Inborn genetic diseases [RCV004977336]	uncertain significance	7	148828804	148828804	Human	1	name
597660143	CV3671557	single nucleotide variant	NM_004456.5(EZH2):c.541T>C (p.Tyr181His)	Inborn genetic diseases [RCV004977337]	uncertain significance	7	148828824	148828824	Human	1	name
597860249	CV3826016	single nucleotide variant	NM_004456.5(EZH2):c.578C>G (p.Pro193Arg)	Weaver syndrome [RCV005174914]	uncertain significance	7	148828787	148828787	Human	1	name
597957441	CV3838484	single nucleotide variant	NM_004456.5(EZH2):c.620G>A (p.Arg207Gln)	Weaver syndrome [RCV005191859]	likely benign	7	148828745	148828745	Human	1	name
597892265	CV3856670	single nucleotide variant	NM_004456.5(EZH2):c.641C>T (p.Pro214Leu)	Weaver syndrome [RCV005200736]	uncertain significance	7	148827251	148827251	Human	1	name
598121887	CV3885798	single nucleotide variant	NM_004456.5(EZH2):c.458A>T (p.Tyr153Phe)	Fetal anomaly [RCV005241315]	uncertain significance	7	148829754	148829754	Human	2	name
8602155	CV39156	single nucleotide variant	NM_004456.5(EZH2):c.394C>T (p.Pro132Ser)	Weaver syndrome [RCV000023119]	pathogenic	7	148829818	148829818	Human	1	name
598211676	CV3955003	single nucleotide variant	NM_004456.5(EZH2):c.620G>C (p.Arg207Pro)	Inborn genetic diseases [RCV005338957]	uncertain significance	7	148828745	148828745	Human	1	name
12900677	CV407045	deletion	NM_004456.5(EZH2):c.1119del (p.Thr374fs)	not provided [RCV000482926]	uncertain significance	7	148817998	148817998	Human		name
12898713	CV407046	single nucleotide variant	NM_004456.5(EZH2):c.587G>C (p.Arg196Thr)	Weaver syndrome [RCV000799198]\|not provided [RCV000478519]	uncertain significance	7	148828778	148828778	Human	1	name
12895055	CV407047	single nucleotide variant	NM_004456.5(EZH2):c.550G>C (p.Asp184His)	not provided [RCV000485113]	likely pathogenic	7	148828815	148828815	Human		name
13212204	CV425741	single nucleotide variant	NM_004456.5(EZH2):c.619C>T (p.Arg207Ter)	not provided [RCV000498482]	likely pathogenic\|uncertain significance	7	148828746	148828746	Human		name
13479480	CV444097	single nucleotide variant	NM_004456.5(EZH2):c.638G>A (p.Arg213His)	EZH2-related disorder [RCV004537870]\|Weaver syndrome [RCV000807016]\|not provided [RCV000520964]	likely benign\|uncertain significance	7	148827254	148827254	Human	1	name , trait
13496438	CV456784	single nucleotide variant	NM_004456.5(EZH2):c.958C>G (p.Leu320Val)	Inborn genetic diseases [RCV004023802]\|Weaver syndrome [RCV000560349]	uncertain significance	7	148819637	148819637	Human	2	name
13532849	CV511704	single nucleotide variant	NM_004456.5(EZH2):c.406G>C (p.Asp136His)	Inborn genetic diseases [RCV000624607]	likely pathogenic	7	148829806	148829806	Human	1	name
14717345	CV635880	single nucleotide variant	NM_004456.5(EZH2):c.623A>G (p.Asp208Gly)	Weaver syndrome [RCV000795414]	uncertain significance	7	148828742	148828742	Human	1	name
14713343	CV635881	single nucleotide variant	NM_004456.5(EZH2):c.562G>A (p.Asp188Asn)	Weaver syndrome [RCV000810542]	uncertain significance	7	148828803	148828803	Human	1	name
38478869	CV924748	single nucleotide variant	NM_004456.5(EZH2):c.574G>A (p.Asp192Asn)	Weaver syndrome [RCV001216815]	likely benign\|uncertain significance	7	148828791	148828791	Human	1	name
38474637	CV933760	single nucleotide variant	NM_004456.5(EZH2):c.646C>T (p.Arg216Trp)	Weaver syndrome [RCV001203904]	likely benign\|uncertain significance	7	148827246	148827246	Human	1	name
38465121	CV933761	single nucleotide variant	NM_004456.5(EZH2):c.398A>G (p.Tyr133Cys)	Weaver syndrome [RCV001201666]\|not provided [RCV001268039]	pathogenic\|likely pathogenic	7	148829814	148829814	Human	1	name
38597686	CV964286	single nucleotide variant	NM_004456.5(EZH2):c.775G>C (p.Glu259Gln)	Weaver syndrome [RCV001252996]	uncertain significance	7	148826586	148826586	Human	1	name
126729992	CV985977	single nucleotide variant	NM_004456.5(EZH2):c.688A>G (p.Met230Val)	Weaver syndrome [RCV001294009]	uncertain significance	7	148827204	148827204	Human	1	name
126739555	CV1007328	single nucleotide variant	NM_004456.5(EZH2):c.1144G>A (p.Asp382Asn)	Weaver syndrome [RCV001314257]	uncertain significance	7	148817973	148817973	Human	1	name
126730263	CV1027877	single nucleotide variant	NM_004456.5(EZH2):c.1424G>C (p.Arg475Thr)	Inborn genetic diseases [RCV003263991]\|Weaver syndrome [RCV001349238]	likely benign\|uncertain significance	7	148816765	148816765	Human	2	name
127261655	CV1087340	single nucleotide variant	NM_004456.5(EZH2):c.1579C>A (p.Pro527Thr)	Weaver syndrome [RCV001420549]	uncertain significance	7	148815007	148815007	Human	1	name
150540769	CV1298494	single nucleotide variant	NM_004456.5(EZH2):c.2212G>A (p.Ala738Thr)	not provided [RCV001760642]	uncertain significance	7	148807690	148807690	Human		name
150541109	CV1298675	single nucleotide variant	NM_004456.5(EZH2):c.1084C>T (p.Arg362Trp)	not provided [RCV001760823]	uncertain significance	7	148818033	148818033	Human		name
150527917	CV1300927	single nucleotide variant	NM_004456.5(EZH2):c.1744G>A (p.Val582Ile)	not provided [RCV001754787]	uncertain significance	7	148814066	148814066	Human		name
150552437	CV1301411	single nucleotide variant	NM_004456.5(EZH2):c.2118G>A (p.Met706Ile)	not provided [RCV001767821]	uncertain significance	7	148809148	148809148	Human		name
150542669	CV1302670	single nucleotide variant	NM_004456.5(EZH2):c.2006G>A (p.Ser669Asn)	Weaver syndrome [RCV002540444]\|not provided [RCV001761360]	pathogenic\|likely pathogenic\|uncertain significance	7	148810356	148810356	Human	1	name
151350729	CV1325637	single nucleotide variant	NM_004456.5(EZH2):c.1094A>G (p.Asn365Ser)	Weaver syndrome [RCV003146243]\|not provided [RCV001814924]	uncertain significance	7	148818023	148818023	Human	1	name
151710002	CV1361134	single nucleotide variant	NM_004456.5(EZH2):c.1172C>T (p.Thr391Ile)	Weaver syndrome [RCV001889171]	likely benign\|uncertain significance	7	148817945	148817945	Human	1	name
151755202	CV1365498	single nucleotide variant	NM_004456.5(EZH2):c.2079T>A (p.Asn693Lys)	Weaver syndrome [RCV001872651]	uncertain significance	7	148809341	148809341	Human	1	name
8687506	CV137959	single nucleotide variant	NM_004456.5(EZH2):c.1844C>T (p.Ser615Phe)	not specified [RCV000120893]	not provided	7	148813966	148813966	Human		name
8687507	CV137960	single nucleotide variant	NM_004456.5(EZH2):c.1810G>A (p.Val604Met)	not specified [RCV000120894]	not provided	7	148814000	148814000	Human		name
8687508	CV137961	single nucleotide variant	NM_004456.5(EZH2):c.1459G>A (p.Ala487Thr)	Weaver syndrome [RCV000383637]\|not provided [RCV005243118]\|not specified [RCV000120895]	benign\|likely benign\|not provided	7	148816730	148816730	Human	1	name
8687512	CV137966	single nucleotide variant	NM_004456.5(EZH2):c.1181G>C (p.Gly394Ala)	Weaver syndrome [RCV003611496]\|not specified [RCV000120900]	uncertain significance\|not provided	7	148817936	148817936	Human	1	name
151821538	CV1387332	single nucleotide variant	NM_004456.5(EZH2):c.1044A>G (p.Ile348Met)	Weaver syndrome [RCV001992823]	uncertain significance	7	148818073	148818073	Human	1	name
151872611	CV1421156	single nucleotide variant	NM_004456.5(EZH2):c.1201G>C (p.Glu401Gln)	Weaver syndrome [RCV001885464]	uncertain significance	7	148817916	148817916	Human	1	name
151755267	CV1425934	single nucleotide variant	NM_004456.5(EZH2):c.2084C>T (p.Ser695Leu)	Weaver syndrome [RCV002007265]\|not provided [RCV004762274]	pathogenic\|likely pathogenic	7	148809336	148809336	Human	1	name
151797948	CV1446858	single nucleotide variant	NM_004456.5(EZH2):c.1613C>A (p.Ser538Ter)	Weaver syndrome [RCV002027821]	uncertain significance	7	148814973	148814973	Human	1	name
151864403	CV1478675	single nucleotide variant	NM_004456.5(EZH2):c.1286T>A (p.Ile429Asn)	Weaver syndrome [RCV002018158]	uncertain significance	7	148817346	148817346	Human	1	name
151848004	CV1484105	single nucleotide variant	NM_004456.5(EZH2):c.2250C>G (p.Ile750Met)	Weaver syndrome [RCV001903705]	uncertain significance	7	148807652	148807652	Human	1	name
151727274	CV1488447	single nucleotide variant	NM_004456.5(EZH2):c.1194T>A (p.Asn398Lys)	Weaver syndrome [RCV001966749]	uncertain significance	7	148817923	148817923	Human	1	name
151786279	CV1490025	single nucleotide variant	NM_004456.5(EZH2):c.1091C>T (p.Pro364Leu)	Weaver syndrome [RCV001930936]\|not provided [RCV004693962]	likely benign\|uncertain significance	7	148818026	148818026	Human	1	name
9682491	CV168571	single nucleotide variant	NM_004456.5(EZH2):c.2236A>G (p.Arg746Gly)	Weaver syndrome [RCV000145978]	likely pathogenic	7	148807666	148807666	Human	1	name
9682489	CV168573	single nucleotide variant	NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys)	EZH2-related disorder [RCV004734701]\|Weaver syndrome [RCV000145975]\|not provided [RCV001564091]	pathogenic	7	148809370	148809370	Human	1	name , trait
9682486	CV168576	single nucleotide variant	NM_004456.5(EZH2):c.1876G>A (p.Val626Met)	EZH2-related disorder [RCV001249312]\|Weaver syndrome [RCV000145972]	pathogenic\|not provided	7	148811696	148811696	Human	1	name , trait
153346249	CV1691616	single nucleotide variant	NM_004456.5(EZH2):c.2185T>C (p.Phe729Leu)	Weaver syndrome [RCV002273099]	pathogenic	7	148809081	148809081	Human	1	name
153348950	CV1693021	single nucleotide variant	NM_004456.5(EZH2):c.2199C>G (p.Tyr733Ter)	Weaver syndrome [RCV002274861]	pathogenic	7	148807703	148807703	Human	1	name
155644161	CV1706951	single nucleotide variant	NM_004456.5(EZH2):c.1136A>G (p.Glu379Gly)	not provided [RCV002290906]	uncertain significance	7	148817981	148817981	Human		name
155731523	CV1780982	single nucleotide variant	NM_004456.5(EZH2):c.1682G>A (p.Arg561His)	not provided [RCV002308770]	uncertain significance	7	148814128	148814128	Human		name
155802972	CV1857874	single nucleotide variant	NM_004456.5(EZH2):c.1288G>C (p.Glu430Gln)	not provided [RCV002461724]	uncertain significance	7	148817344	148817344	Human		name
155797635	CV1860412	single nucleotide variant	NM_004456.5(EZH2):c.1725G>T (p.Gln575His)	not provided [RCV002467054]	uncertain significance	7	148814085	148814085	Human		name
155800495	CV1863635	single nucleotide variant	NM_004456.5(EZH2):c.1549G>A (p.Gly517Ser)	Weaver syndrome [RCV005098465]\|not provided [RCV002474058]	uncertain significance	7	148815037	148815037	Human	1	name
156061176	CV1868089	single nucleotide variant	NM_004456.5(EZH2):c.2051G>A (p.Arg684His)	Weaver syndrome [RCV003037266]	uncertain significance	7	148809369	148809369	Human	1	name
156392157	CV1879750	single nucleotide variant	NM_004456.5(EZH2):c.2173G>A (p.Glu725Lys)	Weaver syndrome [RCV003068152]	uncertain significance	7	148809093	148809093	Human	1	name
156094838	CV1895841	single nucleotide variant	NM_004456.5(EZH2):c.1879G>T (p.Ala627Ser)	Weaver syndrome [RCV003080362]	uncertain significance	7	148811693	148811693	Human	1	name
156313536	CV1931324	single nucleotide variant	NM_004456.5(EZH2):c.1147A>G (p.Thr383Ala)	Weaver syndrome [RCV002629919]	uncertain significance	7	148817970	148817970	Human	1	name
156304829	CV1933726	single nucleotide variant	NM_004456.5(EZH2):c.1223A>G (p.Glu408Gly)	Weaver syndrome [RCV002629435]	likely benign	7	148817894	148817894	Human	1	name
156397478	CV1990684	single nucleotide variant	NM_004456.5(EZH2):c.1364A>G (p.Asn455Ser)	Inborn genetic diseases [RCV004065872]\|Weaver syndrome [RCV002605273]	uncertain significance	7	148817268	148817268	Human	2	name
155942190	CV2006454	single nucleotide variant	NM_004456.5(EZH2):c.1306G>A (p.Glu436Lys)	Weaver syndrome [RCV002685534]	uncertain significance	7	148817326	148817326	Human	1	name
156039824	CV2043974	single nucleotide variant	NM_004456.5(EZH2):c.2026A>G (p.Asn676Asp)	Weaver syndrome [RCV002781448]	uncertain significance	7	148810336	148810336	Human	1	name
10406481	CV207471	duplication	NM_004456.5(EZH2):c.2187dup (p.Asp730Ter)	Weaver syndrome [RCV000192778]\|not provided [RCV001778781]	pathogenic\|likely pathogenic	7	148809078	148809079	Human	1	name
155935172	CV2138737	single nucleotide variant	NM_004456.5(EZH2):c.1947G>C (p.Glu649Asp)	Weaver syndrome [RCV002993664]	uncertain significance	7	148811625	148811625	Human	1	name
155938413	CV2146437	single nucleotide variant	NM_004456.5(EZH2):c.1260A>T (p.Gln420His)	Weaver syndrome [RCV003014100]	uncertain significance	7	148817372	148817372	Human	1	name
155983054	CV2153609	single nucleotide variant	NM_004456.5(EZH2):c.1771C>G (p.Leu591Val)	Weaver syndrome [RCV003016469]	uncertain significance	7	148814039	148814039	Human	1	name
156254078	CV2154091	single nucleotide variant	NM_004456.5(EZH2):c.1070G>C (p.Gly357Ala)	Weaver syndrome [RCV003008543]	uncertain significance	7	148818047	148818047	Human	1	name
156303026	CV2156671	single nucleotide variant	NM_004456.5(EZH2):c.1717A>T (p.Thr573Ser)	Weaver syndrome [RCV003010476]	uncertain significance	7	148814093	148814093	Human	1	name
156230907	CV2156841	single nucleotide variant	NM_004456.5(EZH2):c.1574A>G (p.Tyr525Cys)	Weaver syndrome [RCV003025639]\|not provided [RCV003238910]	uncertain significance	7	148815012	148815012	Human	1	name
156451061	CV2402438	single nucleotide variant	NM_004456.5(EZH2):c.2039T>C (p.Val680Ala)	not provided [RCV003123238]	uncertain significance	7	148809381	148809381	Human		name
243058856	CV2409969	single nucleotide variant	NM_004456.5(EZH2):c.1097A>G (p.Asn366Ser)	Weaver syndrome [RCV003147143]	uncertain significance	7	148818020	148818020	Human	1	name
243058861	CV2409971	single nucleotide variant	NM_004456.5(EZH2):c.2105C>T (p.Ala702Val)	Weaver syndrome [RCV003147145]	uncertain significance	7	148809315	148809315	Human	1	name
243058863	CV2409972	single nucleotide variant	NM_004456.5(EZH2):c.2048C>T (p.Thr683Ile)	Weaver syndrome [RCV003147146]	uncertain significance	7	148809372	148809372	Human	1	name
243052198	CV2416099	single nucleotide variant	NM_004456.5(EZH2):c.1882G>A (p.Gly628Ser)	Weaver syndrome [RCV003149160]	likely pathogenic	7	148811690	148811690	Human	1	name
329380033	CV2444158	single nucleotide variant	NM_004456.5(EZH2):c.1129G>A (p.Val377Met)	Inborn genetic diseases [RCV003175304]	uncertain significance	7	148817988	148817988	Human	1	name
329350898	CV2477728	single nucleotide variant	NM_004456.5(EZH2):c.1675C>A (p.Gln559Lys)	not provided [RCV003223840]	uncertain significance	7	148814135	148814135	Human		name
329847052	CV2534266	single nucleotide variant	NM_004456.5(EZH2):c.1835A>G (p.Gln612Arg)	not provided [RCV003228475]	uncertain significance	7	148813975	148813975	Human		name
11560262	CV259854	single nucleotide variant	NM_004456.5(EZH2):c.2007C>G (p.Ser669Arg)	not provided [RCV000256045]	likely pathogenic	7	148810355	148810355	Human		name
329952403	CV2671752	single nucleotide variant	NM_004456.5(EZH2):c.1070G>A (p.Gly357Asp)	not provided [RCV003237148]	uncertain significance	7	148818047	148818047	Human		name
401797413	CV2740952	single nucleotide variant	NM_004456.5(EZH2):c.1918A>G (p.Asn640Asp)	not provided [RCV003322116]	uncertain significance	7	148811654	148811654	Human		name
401916674	CV2831107	single nucleotide variant	NM_004456.5(EZH2):c.2233G>T (p.Glu745Ter)	not provided [RCV003443376]	uncertain significance	7	148807669	148807669	Human		name
401918302	CV2831276	single nucleotide variant	NM_004456.5(EZH2):c.2015T>G (p.Phe672Cys)	Weaver syndrome [RCV003444041]	likely pathogenic	7	148810347	148810347	Human	1	name
402467227	CV2862419	single nucleotide variant	NM_004456.5(EZH2):c.1215G>C (p.Lys405Asn)	Weaver syndrome [RCV003503490]	uncertain significance	7	148817902	148817902	Human	1	name
402468802	CV2873412	single nucleotide variant	NM_004456.5(EZH2):c.1763A>G (p.Asp588Gly)	Weaver syndrome [RCV003503946]	uncertain significance	7	148814047	148814047	Human	1	name
405131534	CV2900228	single nucleotide variant	NM_004456.5(EZH2):c.1456C>G (p.Pro486Ala)	Weaver syndrome [RCV003502190]\|not provided [RCV004723379]	uncertain significance	7	148816733	148816733	Human	1	name
402466299	CV2930672	single nucleotide variant	NM_004456.5(EZH2):c.1927A>C (p.Ile643Leu)	Weaver syndrome [RCV003503261]	uncertain significance	7	148811645	148811645	Human	1	name
402466808	CV2932013	single nucleotide variant	NM_004456.5(EZH2):c.1841G>C (p.Gly614Ala)	Weaver syndrome [RCV003503376]	uncertain significance	7	148813969	148813969	Human	1	name
405075383	CV2962761	single nucleotide variant	NM_004456.5(EZH2):c.1024G>C (p.Ala342Pro)	Weaver syndrome [RCV003612483]	uncertain significance	7	148818093	148818093	Human	1	name
405075453	CV2962892	single nucleotide variant	NM_004456.5(EZH2):c.2220G>C (p.Lys740Asn)	Weaver syndrome [RCV003612487]	uncertain significance	7	148807682	148807682	Human	1	name
405086783	CV3007063	single nucleotide variant	NM_004456.5(EZH2):c.1061G>A (p.Arg354His)	Weaver syndrome [RCV003613398]	likely benign	7	148818056	148818056	Human	1	name
405061981	CV3047613	single nucleotide variant	NM_004456.5(EZH2):c.1033G>A (p.Ala345Thr)	Weaver syndrome [RCV003611413]	likely benign	7	148818084	148818084	Human	1	name
405069788	CV3060431	single nucleotide variant	NM_004456.5(EZH2):c.2113A>G (p.Met705Val)	Weaver syndrome [RCV003612067]	uncertain significance	7	148809153	148809153	Human	1	name
405070007	CV3064550	single nucleotide variant	NM_004456.5(EZH2):c.1267A>G (p.Ile423Val)	Weaver syndrome [RCV003612113]	uncertain significance	7	148817365	148817365	Human	1	name
405070342	CV3068444	single nucleotide variant	NM_004456.5(EZH2):c.1054C>G (p.Pro352Ala)	Weaver syndrome [RCV003612135]	uncertain significance	7	148818063	148818063	Human	1	name
11599926	CV310161	single nucleotide variant	NM_004456.5(EZH2):c.1555T>C (p.Ser519Pro)	EZH2-related disorder [RCV004735499]\|Inborn genetic diseases [RCV002524526]\|Weaver syndrome [RCV000269385]	likely benign\|uncertain significance	7	148815031	148815031	Human	2	name , trait
11650586	CV310266	single nucleotide variant	NM_004456.4(EZH2):c.1383G>C (p.Arg461Ser)	Weaver syndrome [RCV000293900]	uncertain significance	7	148817249	148817249	Human		name
405009348	CV3127928	single nucleotide variant	NM_004456.5(EZH2):c.1054C>T (p.Pro352Ser)	Weaver syndrome [RCV003828808]	uncertain significance	7	148818063	148818063	Human	1	name
404992686	CV3132400	single nucleotide variant	NM_004456.5(EZH2):c.1258C>G (p.Gln420Glu)	Weaver syndrome [RCV003827339]	uncertain significance	7	148817374	148817374	Human	1	name
405107445	CV3136210	single nucleotide variant	NM_004456.5(EZH2):c.1949T>C (p.Ile650Thr)	Weaver syndrome [RCV003835556]	uncertain significance	7	148810413	148810413	Human	1	name
405052901	CV3150934	single nucleotide variant	NM_004456.5(EZH2):c.1246A>G (p.Asn416Asp)	Weaver syndrome [RCV003849538]	uncertain significance	7	148817386	148817386	Human	1	name
405698315	CV3226965	single nucleotide variant	NM_004456.5(EZH2):c.1154G>A (p.Ser385Asn)	not provided [RCV003993359]	uncertain significance	7	148817963	148817963	Human		name
405657625	CV3234958	single nucleotide variant	NM_004456.5(EZH2):c.2035G>C (p.Val679Leu)	Weaver syndrome [RCV004017179]	likely pathogenic	7	148809385	148809385	Human	1	name
405774685	CV3249407	single nucleotide variant	NM_004456.5(EZH2):c.1180G>C (p.Gly394Arg)	Inborn genetic diseases [RCV004385752]	uncertain significance	7	148817937	148817937	Human	1	name
405774696	CV3249409	single nucleotide variant	NM_004456.5(EZH2):c.1735T>C (p.Tyr579His)	Inborn genetic diseases [RCV004385754]	uncertain significance	7	148814075	148814075	Human	1	name
407500505	CV3438725	single nucleotide variant	NM_004456.5(EZH2):c.2154G>C (p.Lys718Asn)	Inborn genetic diseases [RCV004623045]	uncertain significance	7	148809112	148809112	Human	1	name
407500510	CV3438727	single nucleotide variant	NM_004456.5(EZH2):c.1441A>G (p.Ile481Val)	Inborn genetic diseases [RCV004623047]	uncertain significance	7	148816748	148816748	Human	1	name
408376071	CV3506699	single nucleotide variant	NM_004456.5(EZH2):c.1060C>T (p.Arg354Cys)	EZH2-related disorder [RCV004726456]\|not provided [RCV005416764]	uncertain significance	7	148818057	148818057	Human	1	name , trait
408391124	CV3521214	single nucleotide variant	NM_004456.5(EZH2):c.1580C>T (p.Pro527Leu)	not provided [RCV004763036]	uncertain significance	7	148815006	148815006	Human		name
408388244	CV3522599	single nucleotide variant	NM_004456.5(EZH2):c.1843T>C (p.Ser615Pro)	not provided [RCV004768980]	uncertain significance	7	148813967	148813967	Human		name
408393162	CV3528381	single nucleotide variant	NM_004456.5(EZH2):c.1063C>A (p.Pro355Thr)	Weaver syndrome [RCV005104993]\|not provided [RCV004776149]	uncertain significance	7	148818054	148818054	Human	1	name
596931286	CV3531621	single nucleotide variant	NM_004456.5(EZH2):c.1801A>G (p.Ser601Gly)	not provided [RCV004781183]	uncertain significance	7	148814009	148814009	Human		name
596928182	CV3532838	single nucleotide variant	NM_004456.5(EZH2):c.1985T>C (p.Val662Ala)	not provided [RCV004778936]	uncertain significance	7	148810377	148810377	Human		name
596926800	CV3536342	single nucleotide variant	NM_004456.5(EZH2):c.1969G>A (p.Asp657Asn)	Weaver syndrome [RCV004789749]	likely pathogenic	7	148810393	148810393	Human	1	name
12839679	CV363096	single nucleotide variant	NM_004456.5(EZH2):c.1936T>A (p.Tyr646Asn)	Lymphoma [RCV000421839]\|Malignant melanoma of skin [RCV000429270]\|Non-Hodgkin lymphoma [RCV000439496]	likely pathogenic	7	148811636	148811636	Human	3	name
12841765	CV363097	single nucleotide variant	NM_004456.5(EZH2):c.1937A>C (p.Tyr646Ser)	Lymphoma [RCV000423969]\|Malignant melanoma of skin [RCV000441670]\|Non-Hodgkin lymphoma [RCV000433156]	likely pathogenic	7	148811635	148811635	Human	3	name
12848703	CV363098	single nucleotide variant	NM_004456.5(EZH2):c.2045C>G (p.Ala682Gly)	Lymphoma [RCV000434252]	likely pathogenic	7	148809375	148809375	Human	1	name
12834521	CV363291	single nucleotide variant	NM_004456.5(EZH2):c.1922A>T (p.Glu641Val)	Malignant melanoma of skin [RCV000419957]\|Non-Hodgkin lymphoma [RCV000437178]	likely pathogenic	7	148811650	148811650	Human	2	name
12839945	CV363292	single nucleotide variant	NM_004456.5(EZH2):c.1922A>C (p.Glu641Ala)	Malignant melanoma of skin [RCV000436936]\|Non-Hodgkin lymphoma [RCV000429761]	likely pathogenic	7	148811650	148811650	Human	2	name
597660130	CV3671552	single nucleotide variant	NM_004456.5(EZH2):c.1064C>T (p.Pro355Leu)	Inborn genetic diseases [RCV004977333]	uncertain significance	7	148818053	148818053	Human	1	name
597660136	CV3671554	single nucleotide variant	NM_004456.5(EZH2):c.1036G>C (p.Glu346Gln)	Inborn genetic diseases [RCV004977335]	uncertain significance	7	148818081	148818081	Human	1	name
597702526	CV3718977	single nucleotide variant	NM_004456.5(EZH2):c.1229C>T (p.Ser410Leu)	Weaver syndrome [RCV005033660]	uncertain significance	7	148817888	148817888	Human	1	name
597917025	CV3789511	single nucleotide variant	NM_004456.5(EZH2):c.2051G>T (p.Arg684Leu)	Weaver syndrome [RCV005129606]	uncertain significance	7	148809369	148809369	Human	1	name
597963470	CV3791961	single nucleotide variant	NM_004456.5(EZH2):c.1237T>A (p.Ser413Thr)	Weaver syndrome [RCV005139517]	uncertain significance	7	148817880	148817880	Human	1	name
597939424	CV3818645	single nucleotide variant	NM_004456.5(EZH2):c.1276A>G (p.Lys426Glu)	Weaver syndrome [RCV005158651]	uncertain significance	7	148817356	148817356	Human	1	name
597951651	CV3847433	single nucleotide variant	NM_004456.5(EZH2):c.1688C>T (p.Pro563Leu)	Weaver syndrome [RCV005190415]	uncertain significance	7	148814122	148814122	Human	1	name
597943672	CV3847736	single nucleotide variant	NM_004456.5(EZH2):c.1681C>T (p.Arg561Cys)	Weaver syndrome [RCV005188464]	likely benign	7	148814129	148814129	Human	1	name
597887222	CV3859270	single nucleotide variant	NM_004456.5(EZH2):c.1370G>A (p.Cys457Tyr)	Weaver syndrome [RCV005199923]	uncertain significance	7	148817262	148817262	Human	1	name
597863558	CV3860729	single nucleotide variant	NM_004456.5(EZH2):c.2174A>G (p.Glu725Gly)	Weaver syndrome [RCV005196257]	uncertain significance	7	148809092	148809092	Human	1	name
598122984	CV3890134	single nucleotide variant	NM_004456.5(EZH2):c.1613C>T (p.Ser538Leu)	not provided [RCV005250653]	uncertain significance	7	148814973	148814973	Human		name
598159068	CV3897016	single nucleotide variant	NM_004456.5(EZH2):c.1073G>A (p.Arg358His)	not provided [RCV005367990]	uncertain significance	7	148818044	148818044	Human		name
8602154	CV39155	single nucleotide variant	NM_004456.5(EZH2):c.2080C>T (p.His694Tyr)	Weaver syndrome [RCV000023118]	pathogenic	7	148809340	148809340	Human	1	name
12883484	CV395470	single nucleotide variant	NM_004456.5(EZH2):c.1474A>T (p.Thr492Ser)	Weaver syndrome [RCV000461681]	uncertain significance	7	148816715	148816715	Human	1	name
598194790	CV3955002	single nucleotide variant	NM_004456.5(EZH2):c.2135G>A (p.Arg712Lys)	Inborn genetic diseases [RCV005335462]	uncertain significance	7	148809131	148809131	Human	1	name
12891817	CV395847	single nucleotide variant	NM_004456.5(EZH2):c.1990G>T (p.Asp664Tyr)	Weaver syndrome [RCV000477287]	likely pathogenic\|uncertain significance	7	148810372	148810372	Human	1	name
617149235	CV4017191	single nucleotide variant	NM_004456.5(EZH2):c.1446A>G (p.Ile482Met)	not provided [RCV005416848]	uncertain significance	7	148816743	148816743	Human		name
617154100	CV4022263	single nucleotide variant	NM_004456.5(EZH2):c.1797G>A (p.Trp599Ter)	not provided [RCV005429619]	uncertain significance	7	148814013	148814013	Human		name
12895125	CV407044	single nucleotide variant	NM_004456.5(EZH2):c.2221T>C (p.Tyr741His)	not provided [RCV000485321]	likely pathogenic	7	148807681	148807681	Human		name
13208110	CV424390	single nucleotide variant	NM_004456.5(EZH2):c.2213C>A (p.Ala738Asp)	Weaver syndrome [RCV000495948]	likely pathogenic	7	148807689	148807689	Human	1	name
13211336	CV425738	single nucleotide variant	NM_004456.5(EZH2):c.2191T>C (p.Tyr731His)	not provided [RCV000497306]	likely pathogenic	7	148809075	148809075	Human		name
13212544	CV425739	single nucleotide variant	NM_004456.5(EZH2):c.1730C>T (p.Pro577Leu)	not provided [RCV000498960]	likely pathogenic\|uncertain significance	7	148814080	148814080	Human		name
13212458	CV425740	single nucleotide variant	NM_004456.5(EZH2):c.1363A>G (p.Asn455Asp)	not provided [RCV000498852]	uncertain significance	7	148817269	148817269	Human		name
13481915	CV444095	single nucleotide variant	NM_004456.5(EZH2):c.2069G>A (p.Arg690His)	Weaver syndrome [RCV005252947]\|not provided [RCV000521642]	likely pathogenic\|uncertain significance	7	148809351	148809351	Human	1	name
13482060	CV457503	single nucleotide variant	NM_004456.5(EZH2):c.1696C>A (p.Arg566Ser)	Weaver syndrome [RCV000529234]	uncertain significance	7	148814114	148814114	Human	1	name
13509812	CV481779	single nucleotide variant	NM_004456.5(EZH2):c.2203C>T (p.Gln735Ter)	not specified [RCV000578862]	uncertain significance	7	148807699	148807699	Human		name
13617228	CV522761	single nucleotide variant	NM_004456.5(EZH2):c.1178C>T (p.Thr393Met)	Weaver syndrome [RCV000634024]	uncertain significance	7	148817939	148817939	Human	1	name
13807610	CV561402	single nucleotide variant	NM_004456.5(EZH2):c.1087C>T (p.Leu363Phe)	Weaver syndrome [RCV000701231]	uncertain significance	7	148818030	148818030	Human	1	name
13817428	CV566555	single nucleotide variant	NM_004456.5(EZH2):c.1419G>T (p.Glu473Asp)	Weaver syndrome [RCV000707013]	uncertain significance	7	148816770	148816770	Human	1	name
14698937	CV624153	single nucleotide variant	NM_004456.5(EZH2):c.2234A>G (p.Glu745Gly)	Weaver syndrome [RCV000788111]	pathogenic\|uncertain significance	7	148807668	148807668	Human	1	name
14736915	CV635876	single nucleotide variant	NM_004456.5(EZH2):c.2187T>G (p.Phe729Leu)	Weaver syndrome [RCV000803814]	likely pathogenic	7	148809079	148809079	Human	1	name
14711734	CV635877	single nucleotide variant	NM_004456.5(EZH2):c.2132A>T (p.His711Leu)	Weaver syndrome [RCV000793571]	likely pathogenic	7	148809134	148809134	Human	1	name
14740421	CV635878	single nucleotide variant	NM_004456.5(EZH2):c.2000T>C (p.Met667Thr)	Weaver syndrome [RCV000805355]	likely pathogenic	7	148810362	148810362	Human	1	name
14738137	CV635879	single nucleotide variant	NM_004456.5(EZH2):c.1682G>T (p.Arg561Leu)	Weaver syndrome [RCV000820792]	uncertain significance	7	148814128	148814128	Human	1	name
8621826	CV76582	single nucleotide variant	NM_004456.5(EZH2):c.2044G>A (p.Ala682Thr)	Weaver syndrome [RCV000055900]	pathogenic\|not provided	7	148809376	148809376	Human	1	name
8621827	CV76583	single nucleotide variant	NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys)	EZH2-related disorder [RCV004537252]\|Weaver syndrome [RCV000055901]	pathogenic\|not provided	7	148807669	148807669	Human	1	name , trait
21069658	CV795986	single nucleotide variant	NM_004456.5(EZH2):c.1512G>A (p.Trp504Ter)	not provided [RCV000998940]	likely pathogenic	7	148815540	148815540	Human		name
26897766	CV821940	single nucleotide variant	NM_004456.5(EZH2):c.1786G>A (p.Ala596Thr)	Weaver syndrome [RCV001034307]	likely benign	7	148814024	148814024	Human	1	name
26891850	CV833309	single nucleotide variant	NM_004456.5(EZH2):c.1330A>G (p.Met444Val)	Weaver syndrome [RCV001068427]	uncertain significance	7	148817302	148817302	Human	1	name
8632451	CV87659	single nucleotide variant	NM_004456.5(EZH2):c.1937A>T (p.Tyr646Phe)	Lymphoma [RCV000430342]\|Malignant melanoma of skin [RCV000440575]\|Non-Hodgkin lymphoma [RCV000422926]	likely pathogenic\|not provided	7	148811635	148811635	Human	3	name
8632452	CV87660	single nucleotide variant	NM_004456.5(EZH2):c.1936T>C (p.Tyr646His)	Lymphoma [RCV000429291]\|Malignant melanoma of skin [RCV000418998]\|Non-Hodgkin lymphoma [RCV000436489]	likely pathogenic\|not provided	7	148811636	148811636	Human	3	name
38491168	CV924746	single nucleotide variant	NM_004456.5(EZH2):c.2048C>A (p.Thr683Asn)	Weaver syndrome [RCV001222648]	likely pathogenic	7	148809372	148809372	Human	1	name
38473572	CV924747	single nucleotide variant	NM_004456.5(EZH2):c.1030A>G (p.Thr344Ala)	Weaver syndrome [RCV001214446]	likely benign\|uncertain significance	7	148818087	148818087	Human	1	name
38597801	CV964285	single nucleotide variant	NM_004456.5(EZH2):c.2235A>T (p.Glu745Asp)	Weaver syndrome [RCV001253148]	pathogenic	7	148807667	148807667	Human	1	name
126762856	CV992186	single nucleotide variant	NM_004456.5(EZH2):c.1533A>G (p.Ile511Met)	Weaver syndrome [RCV001310011]	uncertain significance	7	148815519	148815519	Human	1	name
8686549	CV137962	microsatellite	NM_004456.5(EZH2):c.557ATG[3] (p.Asp189del)	Weaver syndrome [RCV002515865]\|not specified [RCV000120896]	uncertain significance\|not provided	7	148828797	148828799	Human		name
13492740	CV456786	microsatellite	NM_004456.5(EZH2):c.546TGA[2] (p.Asp189del)	Weaver syndrome [RCV000535181]	uncertain significance	7	148828811	148828813	Human		name
150543193	CV1309356	microsatellite	NM_004456.5(EZH2):c.1200AGA[3] (p.Glu404del)	Weaver syndrome [RCV001761538]\|not provided [RCV003238428]	uncertain significance	7	148817906	148817908	Human		name
8568182	CV39154	deletion	NM_004456.5(EZH2):c.457_459del (p.Tyr153del)	Weaver syndrome [RCV000023117]	pathogenic	7	148829753	148829755	Human	1	name
153348951	CV1693022	duplication	NM_004456.5(EZH2):c.2204_2211dup (p.Ala738fs)	Weaver syndrome [RCV002274862]	pathogenic	7	148807690	148807691	Human	1	name
243050761	CV2419697	deletion	NM_004456.5(EZH2):c.1528_1531del (p.Lys510fs)	not provided [RCV003156629]	uncertain significance	7	148815521	148815524	Human		name
329848689	CV2523437	deletion	NM_004456.5(EZH2):c.1176_1177del (p.Glu392fs)	not provided [RCV003225451]	uncertain significance	7	148817940	148817941	Human		name
598219269	CV3891777	duplication	NM_004456.5(EZH2):c.2208_2209dup (p.Asp737fs)	Weaver syndrome [RCV005252620]	uncertain significance	7	148807692	148807693	Human	1	name
401797930	CV2739145	deletion	NM_004456.5(EZH2):c.1182_1184del (p.Gly395del)	not provided [RCV003318792]	uncertain significance	7	148817933	148817935	Human		name
596945931	CV3550303	insertion	NM_004456.5(EZH2):c.2227_2228insC (p.Gly743fs)	Weaver syndrome [RCV004818842]	uncertain significance	7	148807674	148807675	Human	1	name
13805138	CV561400	duplication	NM_004456.5(EZH2):c.2218_2220dup (p.Lys740dup)	Weaver syndrome [RCV000699921]	likely pathogenic\|uncertain significance	7	148807681	148807682	Human	1	name
13804431	CV561681	deletion	NM_004456.5(EZH2):c.1198_1200del (p.Lys400del)	Weaver syndrome [RCV000699612]\|not provided [RCV001759391]	uncertain significance	7	148817917	148817919	Human	1	name
38496185	CV945514	deletion	NM_004456.5(EZH2):c.1210_1212del (p.Glu404del)	Weaver syndrome [RCV001226218]	uncertain significance	7	148817905	148817907	Human	1	name
151811460	CV1345322	deletion	NM_004456.5(EZH2):c.2021del (p.Asn673_Leu674insTer)	Weaver syndrome [RCV001878311]	uncertain significance	7	148810341	148810341	Human	1	name
405774703	CV3249410	deletion	NM_004456.5(EZH2):c.555_563del (p.Asp187_Asp189del)	Inborn genetic diseases [RCV004385755]	uncertain significance	7	148828802	148828810	Human	1	name
38492928	CV955089	deletion	NM_004456.5(EZH2):c.1198_1203del (p.Lys400_Glu401del)	Weaver syndrome [RCV001240391]	uncertain significance	7	148817914	148817919	Human	1	name
405690469	CV3227399	duplication	NM_004456.5(EZH2):c.2230_2232dup (p.Ile744_Glu745insIle)	Weaver syndrome [RCV003991743]	uncertain significance	7	148807669	148807670	Human	1	name

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