Ezh2 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

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

656 records found for search term Ezh2

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

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

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

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

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

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

Create Name:

Description:

Send us a Message