Med12 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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1001 records found for search term Med12

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
12839066	CV379506	single nucleotide variant	NM_005120.3(MED12):c.-47A>T	not specified [RCV000428135]	likely benign	X	71118708	71118708	Human		name
13539909	CV508203	single nucleotide variant	NM_005120.3(MED12):c.-28G>T	not specified [RCV000613928]	likely benign	X	71118727	71118727	Human		name
155912209	CV2021725	single nucleotide variant	NM_005120.3(MED12):c.99+9G>A	FG syndrome [RCV003776889]	likely benign	X	71118862	71118862	Human	1	name
14717558	CV670962	single nucleotide variant	NM_005120.2(MED12):c.-206A>G	not provided [RCV000830104]	benign	X	71118549	71118549	Human		name
14713637	CV671169	single nucleotide variant	NM_005120.2(MED12):c.-487G>A	not provided [RCV000828775]	benign	X	71118268	71118268	Human		name
8642172	CV101156	single nucleotide variant	NM_005120.3(MED12):c.736-8A>C	Blepharophimosis - intellectual disability syndrome, MKB type [RCV001775577]\|FG syndrome 1 [RCV000860366]\|FG syndrome [RCV003761746]\|X-linked intellectual disability with marfanoid habitus [RCV001775576]\|not provided [RCV004713238]\|not specified [RCV000081270]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	X	71121319	71121319	Human	4	name
127304727	CV1129899	single nucleotide variant	NM_005120.3(MED12):c.204+7C>T	FG syndrome [RCV003761303]\|not specified [RCV003331159]	likely benign\|uncertain significance	X	71119484	71119484	Human	1	name
127291843	CV1129901	single nucleotide variant	NM_005120.3(MED12):c.397-7C>T	FG syndrome [RCV003595797]	likely benign	X	71120007	71120007	Human	1	name
150536594	CV1297624	single nucleotide variant	NM_005120.3(MED12):c.204+5G>C	not provided [RCV001763212]	uncertain significance	X	71119482	71119482	Human		name
151740979	CV1367078	single nucleotide variant	NM_005120.3(MED12):c.736-3T>C	FG syndrome [RCV003773155]	uncertain significance	X	71121324	71121324	Human	1	name
155960895	CV1912120	duplication	NM_005120.3(MED12):c.846+6dup	FG syndrome [RCV003761584]	benign	X	71121441	71121442	Human	1	name
156280087	CV2005192	single nucleotide variant	NM_005120.3(MED12):c.100-2A>T	FG syndrome [RCV003776762]	likely pathogenic	X	71119371	71119371	Human	1	name
156052772	CV2101821	single nucleotide variant	NM_005120.3(MED12):c.204+9A>G	FG syndrome [RCV003764050]	likely benign	X	71119486	71119486	Human	1	name
155957293	CV2141865	single nucleotide variant	NM_005120.3(MED12):c.205-3C>T	FG syndrome [RCV003596148]	uncertain significance	X	71119683	71119683	Human	1	name
405088922	CV2899817	single nucleotide variant	NM_005120.3(MED12):c.397-8C>T	FG syndrome [RCV003596882]	likely benign	X	71120006	71120006	Human	1	name
405089684	CV2913913	single nucleotide variant	NM_005120.3(MED12):c.846+3A>T	FG syndrome [RCV003597012]	uncertain significance	X	71121440	71121440	Human	1	name
405072984	CV3048295	single nucleotide variant	NM_005120.3(MED12):c.204+9A>C	FG syndrome [RCV003763718]	likely benign	X	71119486	71119486	Human	1	name
596930899	CV3529766	single nucleotide variant	NM_005120.3(MED12):c.846+5G>A	not provided [RCV004780816]	uncertain significance	X	71121442	71121442	Human		name
597858493	CV3748271	single nucleotide variant	NM_005120.3(MED12):c.100-5C>T	FG syndrome [RCV005067093]	likely benign	X	71119368	71119368	Human	1	name
12837977	CV379374	single nucleotide variant	NM_005120.3(MED12):c.736-4A>G	FG syndrome [RCV003766436]\|MED12-related disorder [RCV003985351]\|not specified [RCV000426119]	likely benign	X	71121323	71121323	Human	1	name , alternate_id
597868629	CV3838860	single nucleotide variant	NM_005120.3(MED12):c.396+9C>A	FG syndrome [RCV005176156]	likely benign	X	71119886	71119886	Human	1	name
15129661	CV788310	single nucleotide variant	NM_005120.3(MED12):c.553+9C>T	FG syndrome [RCV003762939]	likely benign	X	71120179	71120179	Human	1	name
8639140	CV97589	single nucleotide variant	NM_005120.3(MED12):c.100-8T>A	Uterine leiomyoma [RCV000077818]	not provided	X	71119365	71119365	Human		name
126742705	CV1019053	single nucleotide variant	NM_005120.3(MED12):c.3692-7A>G	FG syndrome [RCV003763962]\|X-linked intellectual disability with marfanoid habitus [RCV001330017]	uncertain significance	X	71129673	71129673	Human	2	name
126742713	CV1019054	single nucleotide variant	NM_005120.3(MED12):c.6408+1G>A	FG syndrome [RCV003763963]\|MED12-related disorder [RCV004527422]\|X-linked intellectual disability with marfanoid habitus [RCV001330019]	pathogenic\|likely pathogenic	X	71141371	71141371	Human	2	name , alternate_id
126773770	CV1035619	duplication	NM_005120.3(MED12):c.3691+9dup	FG syndrome [RCV003770967]\|MED12-related disorder [RCV003985494]	benign\|likely benign\|uncertain significance	X	71129433	71129434	Human	1	name , alternate_id
127240509	CV1086814	single nucleotide variant	NM_005120.3(MED12):c.1249-4G>T	FG syndrome [RCV003771273]	likely benign	X	71122504	71122504	Human	1	name
127263771	CV1108525	single nucleotide variant	NM_005120.3(MED12):c.2542-5A>G	FG syndrome [RCV003761282]	likely benign	X	71126336	71126336	Human	1	name
127284336	CV1108532	deletion	NM_005120.3(MED12):c.6268-7del	FG syndrome [RCV003761295]	likely benign	X	71141223	71141223	Human	1	name
127293203	CV1129909	single nucleotide variant	NM_005120.3(MED12):c.5826+8C>T	FG syndrome [RCV003771427]	likely benign	X	71137643	71137643	Human	1	name
127309053	CV1150929	single nucleotide variant	NM_005120.3(MED12):c.4416-6C>T	FG syndrome [RCV003761373]	likely benign	X	71132839	71132839	Human	1	name
127337776	CV1150934	single nucleotide variant	NM_005120.3(MED12):c.5749-8C>T	FG syndrome [RCV003761367]	likely benign	X	71137550	71137550	Human	1	name
150334755	CV1166484	single nucleotide variant	NM_005120.3(MED12):c.4048-4A>G	not provided [RCV001531164]	likely benign	X	71131546	71131546	Human		name
150416378	CV1182158	single nucleotide variant	NM_005120.3(MED12):c.4416-8G>T	FG syndrome [RCV003595840]\|not provided [RCV001549593]	likely benign	X	71132837	71132837	Human	1	name
150413561	CV1192551	single nucleotide variant	NM_005120.3(MED12):c.1485+3A>G	not provided [RCV001567239]	likely benign	X	71122877	71122877	Human		name
150410140	CV1196401	single nucleotide variant	NM_005120.3(MED12):c.6045-5T>C	MED12-related disorder [RCV003985510]\|not provided [RCV001572930]	likely benign	X	71140630	71140630	Human		name , alternate_id
150406350	CV1200232	single nucleotide variant	NM_005120.3(MED12):c.1249-1G>C	FG syndrome 1 [RCV001580300]\|not provided [RCV004720928]	pathogenic\|not provided	X	71122507	71122507	Human	1	name
150483326	CV1210114	single nucleotide variant	NM_005120.3(MED12):c.204+25G>T	not provided [RCV001590813]	likely benign	X	71119502	71119502	Human		name
150468508	CV1218923	single nucleotide variant	NM_005120.3(MED12):c.554-16T>A	FG syndrome [RCV003771807]\|not provided [RCV001614675]	benign	X	71120955	71120955	Human	1	name
150467029	CV1255838	single nucleotide variant	NM_005120.3(MED12):c.4120-4C>G	FG syndrome [RCV003597210]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822423]\|not provided [RCV001670472]	likely benign	X	71132069	71132069	Human	2	name
150492854	CV1257436	single nucleotide variant	NM_005120.3(MED12):c.100-64A>G	not provided [RCV001675109]	benign	X	71119309	71119309	Human		name
150493201	CV1257506	single nucleotide variant	NM_005120.3(MED12):c.4048-6T>C	not provided [RCV001675179]	likely benign	X	71131544	71131544	Human		name
150487647	CV1262775	single nucleotide variant	NM_005120.3(MED12):c.554-21C>A	not provided [RCV001687173]	benign	X	71120950	71120950	Human		name
150498148	CV1271461	single nucleotide variant	NM_005120.3(MED12):c.846+37G>A	not provided [RCV001689151]	benign	X	71121474	71121474	Human		name
150472982	CV1281329	single nucleotide variant	NM_005120.3(MED12):c.204+58G>C	not provided [RCV001713456]	benign	X	71119535	71119535	Human		name
150500932	CV1283969	single nucleotide variant	NM_005120.3(MED12):c.397-39G>A	not provided [RCV001718496]	benign	X	71119975	71119975	Human		name
150516448	CV1287363	single nucleotide variant	NM_005120.3(MED12):c.3691+5G>A	Familial thoracic aortic aneurysm and aortic dissection [RCV004039981]\|not provided [RCV001723342]	uncertain significance	X	71129434	71129434	Human	1	name
150535111	CV1293641	single nucleotide variant	NM_005120.3(MED12):c.1617+5G>T	not provided [RCV001757918]	uncertain significance	X	71123231	71123231	Human		name
151809717	CV1338852	single nucleotide variant	NM_005120.3(MED12):c.5749-5T>A	FG syndrome [RCV003762086]	likely benign\|uncertain significance	X	71137553	71137553	Human	1	name
8660034	CV135038	single nucleotide variant	NM_005120.3(MED12):c.3868-7T>A	not provided [RCV000117600]	conflicting interpretations of pathogenicity\|uncertain significance	X	71130028	71130028	Human		name
151812984	CV1367691	single nucleotide variant	NM_005120.3(MED12):c.2685+6G>A	FG syndrome [RCV003772489]	uncertain significance	X	71126490	71126490	Human	1	name
151711401	CV1373673	single nucleotide variant	NM_005120.3(MED12):c.2542-4T>G	FG syndrome [RCV003762026]\|not provided [RCV005421052]	uncertain significance	X	71126337	71126337	Human	1	name
151820162	CV1378335	single nucleotide variant	NM_005120.3(MED12):c.5400+2T>C	FG syndrome [RCV003772398]	likely pathogenic	X	71136657	71136657	Human	1	name
151758890	CV1391782	single nucleotide variant	NM_005120.3(MED12):c.4617+3G>A	FG syndrome [RCV003597223]	uncertain significance	X	71133215	71133215	Human	1	name
151746887	CV1398402	single nucleotide variant	NM_005120.3(MED12):c.6490+6C>T	FG syndrome [RCV003773326]	uncertain significance	X	71141970	71141970	Human	1	name
151888501	CV1468405	single nucleotide variant	NM_005120.3(MED12):c.3209+7G>T	FG syndrome [RCV003762109]	uncertain significance	X	71128127	71128127	Human	1	name
151761067	CV1502840	single nucleotide variant	NM_005120.3(MED12):c.2372-9C>A	FG syndrome [RCV003762053]	likely benign\|uncertain significance	X	71125654	71125654	Human	1	name
151733628	CV1509918	single nucleotide variant	NM_005120.3(MED12):c.5401-3C>A	FG syndrome [RCV003762018]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002343964]	uncertain significance	X	71136876	71136876	Human	2	name
151853662	CV1514714	single nucleotide variant	NM_005120.3(MED12):c.2372-9C>G	FG syndrome [RCV003772995]	likely benign\|uncertain significance	X	71125654	71125654	Human	1	name
152104706	CV1536539	single nucleotide variant	NM_005120.3(MED12):c.735+19T>C	FG syndrome [RCV003597381]\|not provided [RCV004704766]	likely benign	X	71121171	71121171	Human	1	name
152063361	CV1542354	single nucleotide variant	NM_005120.3(MED12):c.205-20G>A	FG syndrome [RCV003762163]	benign	X	71119666	71119666	Human	1	name
152061252	CV1558346	single nucleotide variant	NM_005120.3(MED12):c.5826+7G>C	FG syndrome [RCV003773914]	likely benign	X	71137642	71137642	Human	1	name
152151631	CV1559711	single nucleotide variant	NM_005120.3(MED12):c.4120-7T>C	FG syndrome [RCV003762169]	likely benign	X	71132066	71132066	Human	1	name
152058078	CV1567453	duplication	NM_005120.3(MED12):c.2372-8dup	FG syndrome [RCV003773984]	likely benign	X	71125648	71125649	Human	1	name
152033652	CV1581785	single nucleotide variant	NM_005120.3(MED12):c.4863+7A>G	FG syndrome [RCV003773535]	likely benign	X	71134855	71134855	Human	1	name
152175311	CV1586333	single nucleotide variant	NM_005120.3(MED12):c.736-10G>A	FG syndrome [RCV003762155]	likely benign	X	71121317	71121317	Human	1	name
152045496	CV1600144	single nucleotide variant	NM_005120.3(MED12):c.4120-5C>T	FG syndrome [RCV003762192]	likely benign	X	71132068	71132068	Human	1	name
152117837	CV1601065	single nucleotide variant	NM_005120.3(MED12):c.1486-8T>C	FG syndrome [RCV003597345]	likely benign	X	71123087	71123087	Human	1	name
152111658	CV1618512	single nucleotide variant	NM_005120.3(MED12):c.1975-7C>T	FG syndrome [RCV003597296]	likely benign	X	71124757	71124757	Human	1	name
152138843	CV1645401	single nucleotide variant	NM_005120.3(MED12):c.554-13C>G	FG syndrome [RCV003597395]	likely benign	X	71120958	71120958	Human	1	name
152134277	CV1646655	single nucleotide variant	NM_005120.3(MED12):c.847-13C>T	FG syndrome [RCV003597372]	likely benign	X	71121549	71121549	Human	1	name
152083591	CV1647906	single nucleotide variant	NM_005120.3(MED12):c.5552-4T>A	FG syndrome [RCV003773568]	likely benign	X	71137183	71137183	Human	1	name
152036013	CV1648369	single nucleotide variant	NM_005120.3(MED12):c.1485+7G>A	FG syndrome [RCV003773875]	likely benign	X	71122881	71122881	Human	1	name
152152886	CV1664572	single nucleotide variant	NM_005120.3(MED12):c.1248+7C>G	FG syndrome [RCV003763039]	likely benign	X	71122353	71122353	Human	1	name
152029846	CV1664708	single nucleotide variant	NM_005120.3(MED12):c.553+13T>C	FG syndrome [RCV003762230]	likely benign	X	71120183	71120183	Human	1	name
152040646	CV1669753	single nucleotide variant	NM_005120.3(MED12):c.5826+3A>G	not provided [RCV002224654]	uncertain significance	X	71137638	71137638	Human		name
152035463	CV1670150	single nucleotide variant	NM_005120.3(MED12):c.3691+8G>A	not provided [RCV002223684]	uncertain significance	X	71129437	71129437	Human		name
152981586	CV1676904	single nucleotide variant	NM_005120.3(MED12):c.4254-5T>A	FG syndrome [RCV005058172]\|not specified [RCV002247971]	likely benign\|uncertain significance	X	71132372	71132372	Human	1	name
152982458	CV1677392	single nucleotide variant	NM_005120.3(MED12):c.1248+3A>G	Blepharophimosis - intellectual disability syndrome, MKB type [RCV002249101]	likely pathogenic	X	71122349	71122349	Human	1	name
155267360	CV1699570	single nucleotide variant	NM_005120.3(MED12):c.2541+1G>A	MED12-related disorder [RCV003985558]	likely pathogenic	X	71126155	71126155	Human		name , trait , alternate_id
155695658	CV1790527	single nucleotide variant	NM_005120.3(MED12):c.4048-3C>T	FG syndrome [RCV005058346]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002321247]	uncertain significance	X	71131547	71131547	Human	2	name
155797858	CV1860529	single nucleotide variant	NM_005120.3(MED12):c.1349-7T>G	not provided [RCV002467171]	uncertain significance	X	71122731	71122731	Human		name
156411801	CV1893984	single nucleotide variant	NM_005120.3(MED12):c.2372-8C>G	FG syndrome [RCV003761520]	likely benign	X	71125655	71125655	Human	1	name
10051994	CV194170	single nucleotide variant	NM_005120.3(MED12):c.5400+6C>T	FG syndrome [RCV003765097]\|Intellectual disability [RCV001251841]\|not provided [RCV000724242]\|not specified [RCV000225701]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71136661	71136661	Human	3	name
156137572	CV1973450	single nucleotide variant	NM_005120.3(MED12):c.4728-9C>T	FG syndrome [RCV003776626]\|MED12-related disorder [RCV003985562]	likely benign	X	71134704	71134704	Human	1	name , alternate_id
156353679	CV1985854	single nucleotide variant	NM_005120.3(MED12):c.1975-9T>C	FG syndrome [RCV003776723]	uncertain significance	X	71124755	71124755	Human	1	name
156128228	CV2043202	single nucleotide variant	NM_005120.3(MED12):c.1486-4C>A	FG syndrome [RCV003776959]	likely benign	X	71123091	71123091	Human	1	name
156008584	CV2046370	single nucleotide variant	NM_005120.3(MED12):c.5552-3C>T	FG syndrome [RCV003776943]	uncertain significance	X	71137184	71137184	Human	1	name
156346056	CV2051891	single nucleotide variant	NM_005120.3(MED12):c.4120-7T>A	FG syndrome [RCV003763238]	likely benign	X	71132066	71132066	Human	1	name
156039664	CV2089576	single nucleotide variant	NM_005120.3(MED12):c.100-11T>G	FG syndrome [RCV003764029]	uncertain significance	X	71119362	71119362	Human	1	name
156262400	CV2100713	single nucleotide variant	NM_005120.3(MED12):c.1617+8G>T	FG syndrome [RCV003764038]	likely benign	X	71123234	71123234	Human	1	name
10411120	CV210546	single nucleotide variant	NM_005120.3(MED12):c.397-12A>T	FG syndrome [RCV003765252]\|not specified [RCV000199598]	benign	X	71120002	71120002	Human	1	name
10411187	CV210558	single nucleotide variant	NM_005120.2(MED12):c.2422+3A>G	not specified [RCV000199742]	uncertain significance	X	71125716	71125716	Human		name
156377303	CV2124276	single nucleotide variant	NM_005120.3(MED12):c.846+10G>A	FG syndrome [RCV003596127]	likely benign	X	71121447	71121447	Human	1	name
156012920	CV2124731	single nucleotide variant	NM_005120.3(MED12):c.5400+9C>T	FG syndrome [RCV003596132]	likely benign	X	71136664	71136664	Human	1	name
156150734	CV2124877	single nucleotide variant	NM_005120.3(MED12):c.3691+9G>A	FG syndrome [RCV003596134]\|MED12-related disorder [RCV003985568]	likely benign\|uncertain significance	X	71129438	71129438	Human	1	name , alternate_id
155936123	CV2149924	single nucleotide variant	NM_005120.3(MED12):c.1974+7G>A	FG syndrome [RCV003764131]	likely benign	X	71124395	71124395	Human	1	name
156215748	CV2176612	single nucleotide variant	NM_005120.3(MED12):c.1101+3A>G	FG syndrome [RCV003764201]	uncertain significance	X	71121819	71121819	Human	1	name
156332027	CV2188114	single nucleotide variant	NM_005120.3(MED12):c.5025+1G>C	FG syndrome [RCV003761476]	likely pathogenic	X	71135254	71135254	Human	1	name
156242652	CV2188990	single nucleotide variant	NM_005120.3(MED12):c.4415+9G>A	FG syndrome [RCV003761490]	likely benign	X	71132547	71132547	Human	1	name
156349970	CV2189527	single nucleotide variant	NM_005120.3(MED12):c.5400+6C>A	FG syndrome [RCV003761472]	uncertain significance	X	71136661	71136661	Human	1	name
243062329	CV2404734	single nucleotide variant	NM_005120.3(MED12):c.4416-1G>C	Cholestasis-pigmentary retinopathy-cleft palate syndrome [RCV003140295]	likely pathogenic	X	71132844	71132844	Human		name
243063699	CV2405177	single nucleotide variant	NM_005120.3(MED12):c.1102-6T>C	Blepharophimosis - intellectual disability syndrome, MKB type [RCV003142309]	uncertain significance	X	71122194	71122194	Human	1	name
243057709	CV2413323	single nucleotide variant	NM_005120.3(MED12):c.1348+1G>T	not provided [RCV003131570]	uncertain significance	X	71122608	71122608	Human		name
11552452	CV257867	single nucleotide variant	NM_005120.3(MED12):c.205-38C>T	Blepharophimosis - intellectual disability syndrome, MKB type [RCV001775734]\|FG syndrome 1 [RCV001775732]\|X-linked intellectual disability with marfanoid habitus [RCV001775733]\|not provided [RCV000832621]\|not specified [RCV000254396]	benign\|likely benign	X	71119648	71119648	Human	4	name
11552176	CV259197	single nucleotide variant	NM_005120.3(MED12):c.4253+4G>A	FG syndrome [RCV003595904]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311220]\|See cases [RCV002252068]	uncertain significance	X	71132210	71132210	Human	2	name
11641546	CV266579	single nucleotide variant	NM_005120.3(MED12):c.3354+6A>G	not provided [RCV000357478]	uncertain significance	X	71128446	71128446	Human		name
329955325	CV2671269	single nucleotide variant	NM_005120.3(MED12):c.2423-6C>T	FG syndrome [RCV003779863]\|not specified [RCV003236545]	benign\|uncertain significance	X	71126030	71126030	Human	1	name
401798355	CV2741446	single nucleotide variant	NM_005120.3(MED12):c.4863+1G>A	FG syndrome 1 [RCV003322664]	likely pathogenic	X	71134849	71134849	Human	1	name
401795862	CV2742827	single nucleotide variant	NM_005120.3(MED12):c.1249-2A>G	not provided [RCV003325343]	likely pathogenic	X	71122506	71122506	Human		name
401795878	CV2742846	duplication	NM_005120.3(MED12):c.3691+2dup	not provided [RCV003325362]	likely pathogenic	X	71129430	71129431	Human		name
401928679	CV2829234	single nucleotide variant	NM_005120.3(MED12):c.1618-3C>T	not provided [RCV003439570]	likely benign	X	71123591	71123591	Human		name
405084987	CV2863015	single nucleotide variant	NM_005120.3(MED12):c.3476-6T>A	FG syndrome [RCV003596348]	likely benign	X	71129108	71129108	Human	1	name
405085289	CV2867526	single nucleotide variant	NM_005120.3(MED12):c.204+14G>C	FG syndrome [RCV003596380]	likely benign	X	71119491	71119491	Human	1	name
405088070	CV2887224	single nucleotide variant	NM_005120.3(MED12):c.205-17C>T	FG syndrome [RCV003596824]	likely benign	X	71119669	71119669	Human	1	name
405086621	CV2888768	single nucleotide variant	NM_005120.3(MED12):c.3209+6G>A	FG syndrome [RCV003596755]	uncertain significance	X	71128126	71128126	Human	1	name
405088044	CV2890257	single nucleotide variant	NM_005120.3(MED12):c.6268-7C>G	FG syndrome [RCV003596819]	likely benign	X	71141223	71141223	Human	1	name
405088956	CV2895970	single nucleotide variant	NM_005120.3(MED12):c.4618-7C>T	FG syndrome [RCV003596886]	likely benign	X	71134350	71134350	Human	1	name
405088726	CV2907635	single nucleotide variant	NM_005120.3(MED12):c.735+13G>T	FG syndrome [RCV003596933]	uncertain significance	X	71121165	71121165	Human	1	name
405092541	CV2924253	single nucleotide variant	NM_005120.3(MED12):c.204+12C>G	FG syndrome [RCV003597188]	likely benign	X	71119489	71119489	Human	1	name
405058641	CV2940740	single nucleotide variant	NM_005120.3(MED12):c.3210-7T>C	FG syndrome [RCV003761724]	likely benign	X	71128289	71128289	Human	1	name
405060519	CV2955868	single nucleotide variant	NM_005120.3(MED12):c.4728-6T>A	FG syndrome [RCV003762359]	likely benign	X	71134707	71134707	Human	1	name
405061641	CV2976211	duplication	NM_005120.3(MED12):c.553+17dup	FG syndrome [RCV003762457]	likely benign	X	71120186	71120187	Human	1	name
405063613	CV2986409	single nucleotide variant	NM_005120.3(MED12):c.2981+9G>C	FG syndrome [RCV003762548]	likely benign	X	71127476	71127476	Human	1	name
405062103	CV2988656	single nucleotide variant	NM_005120.3(MED12):c.2371+4G>C	FG syndrome [RCV003762533]	uncertain significance	X	71125499	71125499	Human	1	name
405063229	CV2990287	single nucleotide variant	NM_005120.3(MED12):c.846+20T>C	FG syndrome [RCV003762570]	likely benign	X	71121457	71121457	Human	1	name
405063978	CV2996828	single nucleotide variant	NM_005120.3(MED12):c.4416-7T>A	FG syndrome [RCV003762646]	likely benign	X	71132838	71132838	Human	1	name
405064006	CV2996834	single nucleotide variant	NM_005120.3(MED12):c.6045-7T>G	FG syndrome [RCV003762648]	uncertain significance	X	71140628	71140628	Human	1	name
405066444	CV3018047	single nucleotide variant	NM_005120.3(MED12):c.1744+6G>A	FG syndrome [RCV003763346]	uncertain significance	X	71123726	71123726	Human	1	name
405068230	CV3030372	single nucleotide variant	NM_005120.3(MED12):c.3692-5C>T	FG syndrome [RCV003763440]	likely benign	X	71129675	71129675	Human	1	name
405073725	CV3046176	single nucleotide variant	NM_005120.3(MED12):c.2371+7T>G	FG syndrome [RCV003764231]	likely benign	X	71125502	71125502	Human	1	name
405070146	CV3053534	single nucleotide variant	NM_005120.3(MED12):c.100-15G>T	FG syndrome [RCV003763601]	uncertain significance	X	71119358	71119358	Human	1	name
405073039	CV3055419	single nucleotide variant	NM_005120.3(MED12):c.847-12G>A	FG syndrome [RCV003763730]	likely benign	X	71121550	71121550	Human	1	name
405073780	CV3056166	single nucleotide variant	NM_005120.3(MED12):c.2372-9C>T	FG syndrome [RCV003764234]	benign	X	71125654	71125654	Human	1	name
405075933	CV3072635	single nucleotide variant	NM_005120.3(MED12):c.5400+4A>G	FG syndrome [RCV003764434]	uncertain significance	X	71136659	71136659	Human	1	name
402521309	CV3126877	single nucleotide variant	NM_005120.3(MED12):c.1249-7A>G	FG syndrome [RCV003824795]	likely benign	X	71122501	71122501	Human	1	name
405047497	CV3137830	single nucleotide variant	NM_005120.3(MED12):c.6268-3T>C	FG syndrome [RCV003831868]	uncertain significance	X	71141227	71141227	Human	1	name
405044029	CV3150281	single nucleotide variant	NM_005120.3(MED12):c.205-11T>G	FG syndrome [RCV003849075]	uncertain significance	X	71119675	71119675	Human	1	name
405172446	CV3150366	single nucleotide variant	NM_005120.3(MED12):c.3209+4T>C	FG syndrome [RCV003841640]	uncertain significance	X	71128124	71128124	Human	1	name
405217010	CV3160858	single nucleotide variant	NM_005120.3(MED12):c.5026-4G>T	FG syndrome [RCV003862920]	likely benign	X	71136277	71136277	Human	1	name
404982771	CV3179605	single nucleotide variant	NM_005120.3(MED12):c.100-10C>G	FG syndrome [RCV003880586]	uncertain significance	X	71119363	71119363	Human	1	name
404980772	CV3183413	single nucleotide variant	NM_005120.3(MED12):c.3354+6A>C	FG syndrome [RCV003880436]	uncertain significance	X	71128446	71128446	Human	1	name
405280449	CV3194531	single nucleotide variant	NM_005120.3(MED12):c.2372-8C>A	MED12-related disorder [RCV003985641]	likely benign	X	71125655	71125655	Human		name , trait , alternate_id
405871933	CV3398147	single nucleotide variant	NM_005120.3(MED12):c.1975-6C>A	not provided [RCV004575148]	uncertain significance	X	71124758	71124758	Human		name
408371164	CV3504900	single nucleotide variant	NM_005120.3(MED12):c.3577+6T>C	MED12-related disorder [RCV004724522]	uncertain significance	X	71129221	71129221	Human		name , trait , alternate_id
597633475	CV3560055	single nucleotide variant	NM_005120.3(MED12):c.5026-5A>G	Familial thoracic aortic aneurysm and aortic dissection [RCV004823863]	uncertain significance	X	71136276	71136276	Human	1	name
12740862	CV360705	single nucleotide variant	NM_005120.3(MED12):c.397-12A>G	FG syndrome 1 [RCV003388835]\|FG syndrome [RCV005090669]\|MED12-related intellectual disability syndrome [RCV003409579]\|not provided [RCV000413334]	likely pathogenic\|uncertain significance	X	71120002	71120002	Human	3	name
597961973	CV3753571	single nucleotide variant	NM_005120.3(MED12):c.5826+4A>G	FG syndrome [RCV005081875]	uncertain significance	X	71137639	71137639	Human	1	name
597951786	CV3765481	single nucleotide variant	NM_005120.3(MED12):c.205-15C>T	FG syndrome [RCV005121125]	likely benign	X	71119671	71119671	Human	1	name
597950658	CV3768697	single nucleotide variant	NM_005120.3(MED12):c.4119+8G>A	FG syndrome [RCV005120883]	likely benign	X	71131629	71131629	Human	1	name
597905532	CV3780983	single nucleotide variant	NM_005120.3(MED12):c.397-19A>C	FG syndrome [RCV005127882]	likely benign	X	71119995	71119995	Human	1	name
12833769	CV378547	single nucleotide variant	NM_005120.3(MED12):c.100-19C>T	FG syndrome [RCV003595966]\|not specified [RCV000419152]	likely benign	X	71119354	71119354	Human	1	name
597933075	CV3789909	single nucleotide variant	NM_005120.3(MED12):c.4527+4C>T	FG syndrome [RCV005131988]	uncertain significance	X	71132960	71132960	Human	1	name
597963688	CV3791582	single nucleotide variant	NM_005120.3(MED12):c.2542-9C>G	FG syndrome [RCV005139336]	likely benign	X	71126332	71126332	Human	1	name
12841314	CV379378	single nucleotide variant	NM_005120.3(MED12):c.1485+6C>T	FG syndrome [RCV003762728]\|not provided [RCV001712296]\|not specified [RCV001821207]	benign\|likely benign	X	71122880	71122880	Human	1	name
12836724	CV379380	single nucleotide variant	NM_005120.3(MED12):c.1744+4C>T	FG syndrome [RCV003762001]\|not specified [RCV000423906]	likely benign\|uncertain significance	X	71123724	71123724	Human	1	name
12844457	CV379509	single nucleotide variant	NM_005120.3(MED12):c.736-14C>G	FG syndrome [RCV003766300]\|not specified [RCV000438023]	benign\|likely benign	X	71121313	71121313	Human	1	name
12833606	CV379513	single nucleotide variant	NM_005120.3(MED12):c.1618-8T>C	not specified [RCV000418836]	likely benign	X	71123586	71123586	Human		name
12835960	CV380109	single nucleotide variant	NM_005120.3(MED12):c.204+13T>G	FG syndrome [RCV005090795]\|not provided [RCV001704296]	likely benign	X	71119490	71119490	Human	1	name
597868043	CV3802828	single nucleotide variant	NM_005120.3(MED12):c.4618-9C>T	FG syndrome [RCV005147615]	likely benign	X	71134348	71134348	Human	1	name
597936105	CV3811403	single nucleotide variant	NM_005120.3(MED12):c.4048-7A>G	FG syndrome [RCV005157918]	likely benign	X	71131543	71131543	Human	1	name
597960276	CV3815523	single nucleotide variant	NM_005120.3(MED12):c.2981+8A>T	FG syndrome [RCV005163456]	likely benign	X	71127475	71127475	Human	1	name
597963361	CV3819599	single nucleotide variant	NM_005120.3(MED12):c.847-13C>G	FG syndrome [RCV005164315]	likely benign	X	71121549	71121549	Human	1	name
597970746	CV3832526	single nucleotide variant	NM_005120.3(MED12):c.1744+5G>T	FG syndrome [RCV005166605]	uncertain significance	X	71123725	71123725	Human	1	name
597892471	CV3840209	deletion	NM_005120.3(MED12):c.2372-8del	FG syndrome [RCV005179908]	benign	X	71125649	71125649	Human	1	name
597925741	CV3840590	single nucleotide variant	NM_005120.3(MED12):c.4253+3C>T	FG syndrome [RCV005185061]	uncertain significance	X	71132209	71132209	Human	1	name
597920581	CV3852039	single nucleotide variant	NM_005120.3(MED12):c.3691+4C>A	FG syndrome [RCV005205019]	uncertain significance	X	71129433	71129433	Human	1	name
597922538	CV3861926	single nucleotide variant	NM_005120.3(MED12):c.5552-9C>T	FG syndrome [RCV005205302]	likely benign	X	71137178	71137178	Human	1	name
597931710	CV3863183	single nucleotide variant	NM_005120.3(MED12):c.100-15G>A	FG syndrome [RCV005206709]	likely benign	X	71119358	71119358	Human	1	name
598238691	CV3893306	single nucleotide variant	NM_005120.3(MED12):c.2056-2A>T	not provided [RCV005256039]	likely pathogenic	X	71124974	71124974	Human		name
12891490	CV404587	single nucleotide variant	NM_005120.3(MED12):c.3691+4C>T	FG syndrome [RCV003762739]\|not specified [RCV000610539]	benign\|uncertain significance	X	71129433	71129433	Human	1	name
12890041	CV404588	single nucleotide variant	NM_005120.3(MED12):c.1744+5G>A	FG syndrome [RCV003766549]	uncertain significance	X	71123725	71123725	Human	1	name
12898910	CV411465	duplication	NM_005120.3(MED12):c.3355-8dup	FG syndrome [RCV003766711]\|not provided [RCV001722407]	benign\|likely benign	X	71128584	71128585	Human	1	name
13537161	CV508215	single nucleotide variant	NM_005120.3(MED12):c.2850-7C>G	FG syndrome [RCV003596059]\|not specified [RCV000610014]	likely benign\|uncertain significance	X	71127329	71127329	Human	1	name
13537400	CV508368	single nucleotide variant	NM_005120.3(MED12):c.553+12C>G	not specified [RCV000610353]	likely benign	X	71120182	71120182	Human		name
13525097	CV508374	single nucleotide variant	NM_005120.3(MED12):c.1975-5C>T	FG syndrome [RCV003596058]\|not specified [RCV000602695]	benign\|likely benign	X	71124759	71124759	Human	1	name
13533757	CV508624	single nucleotide variant	NM_005120.3(MED12):c.735+15A>G	FG syndrome [RCV003767560]\|not specified [RCV000607187]	likely benign	X	71121167	71121167	Human	1	name
13541634	CV508644	single nucleotide variant	NM_005120.3(MED12):c.5400+7G>A	FG syndrome [RCV003762829]\|MED12-related disorder [RCV003985396]\|not specified [RCV000616430]	benign\|likely benign	X	71136662	71136662	Human	1	name , alternate_id
13541607	CV508693	single nucleotide variant	NM_005120.3(MED12):c.3577+9C>A	not specified [RCV000616392]	likely benign	X	71129224	71129224	Human		name
13541340	CV508694	single nucleotide variant	NM_005120.3(MED12):c.4864-6C>T	FG syndrome 1 [RCV001330018]\|FG syndrome [RCV003762825]\|not provided [RCV001719049]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71135086	71135086	Human	2	name
13533379	CV510983	single nucleotide variant	NM_005120.3(MED12):c.6268-4A>G	Familial thoracic aortic aneurysm and aortic dissection [RCV002313390]	uncertain significance	X	71141226	71141226	Human	1	name
13818584	CV572558	single nucleotide variant	NM_005120.3(MED12):c.2422+6T>G	FG syndrome [RCV003596508]	uncertain significance	X	71125719	71125719	Human	1	name
14713285	CV653474	single nucleotide variant	NM_005120.3(MED12):c.1485+5G>A	FG syndrome [RCV003768541]\|not specified [RCV004768704]	benign\|uncertain significance	X	71122879	71122879	Human	1	name
14705586	CV653793	single nucleotide variant	NM_005120.3(MED12):c.2227-4G>A	FG syndrome [RCV003596578]	likely benign\|uncertain significance	X	71125347	71125347	Human	1	name
14725824	CV671170	single nucleotide variant	NM_005120.3(MED12):c.554-83A>G	not provided [RCV000833607]	benign	X	71120888	71120888	Human		name
15184517	CV776831	single nucleotide variant	NM_005120.3(MED12):c.1485+9A>G	FG syndrome [RCV003595620]	likely benign	X	71122883	71122883	Human	1	name
15104067	CV776915	single nucleotide variant	NM_005120.3(MED12):c.1102-9A>G	FG syndrome [RCV003595633]	likely benign	X	71122191	71122191	Human	1	name
21075111	CV798381	single nucleotide variant	NM_005120.3(MED12):c.1745-3C>T	not provided [RCV000995944]	uncertain significance	X	71124156	71124156	Human		name
21075112	CV798382	single nucleotide variant	NM_005120.3(MED12):c.4415+3A>G	not provided [RCV000995945]	uncertain significance	X	71132541	71132541	Human		name
26887138	CV852526	single nucleotide variant	NM_005120.3(MED12):c.4048-1G>A	FG syndrome [RCV003763749]	likely pathogenic\|uncertain significance	X	71131549	71131549	Human	1	name
38496419	CV960990	single nucleotide variant	NM_005120.3(MED12):c.6267+3A>C	FG syndrome [RCV003595727]	uncertain significance	X	71140860	71140860	Human	1	name
8642161	CV101145	single nucleotide variant	NM_005120.3(MED12):c.2849+14C>T	FG syndrome [RCV003595860]\|X-linked intellectual disability with marfanoid habitus [RCV002483145]\|not provided [RCV000081259]	benign\|uncertain significance	X	71127146	71127146	Human	5	name
127243876	CV1086815	single nucleotide variant	NM_005120.3(MED12):c.1745-10C>T	FG syndrome [RCV003595781]	likely benign	X	71124149	71124149	Human	1	name
150336518	CV1165172	single nucleotide variant	NM_005120.3(MED12):c.5400+44C>G	not provided [RCV001530879]	benign	X	71136699	71136699	Human		name
150338946	CV1167804	single nucleotide variant	NM_005120.3(MED12):c.554-204C>T	not provided [RCV001533915]	likely benign	X	71120767	71120767	Human		name
150416075	CV1182156	single nucleotide variant	NM_005120.3(MED12):c.553+218G>C	not provided [RCV001549433]	likely benign	X	71120388	71120388	Human		name
150425359	CV1185850	single nucleotide variant	NM_005120.3(MED12):c.3475+52C>T	not provided [RCV001557895]	likely benign	X	71128770	71128770	Human		name
150428944	CV1189155	single nucleotide variant	NM_005120.3(MED12):c.3355-25G>C	not provided [RCV001562931]	likely benign	X	71128573	71128573	Human		name
150405382	CV1192554	duplication	NM_005120.3(MED12):c.4048-11dup	FG syndrome [RCV003761402]\|not provided [RCV001564258]	likely benign	X	71131537	71131538	Human	1	name
150408777	CV1192555	single nucleotide variant	NM_005120.3(MED12):c.4528-21T>C	not provided [RCV001565439]	likely benign	X	71133102	71133102	Human		name
150417768	CV1195803	single nucleotide variant	NM_005120.3(MED12):c.4254-28G>T	not provided [RCV001568914]	likely benign	X	71132349	71132349	Human		name
150407365	CV1195804	single nucleotide variant	NM_005120.3(MED12):c.4527+35G>A	not provided [RCV001572322]	likely benign	X	71132991	71132991	Human		name
150418956	CV1199534	single nucleotide variant	NM_005120.3(MED12):c.1617+24C>T	not provided [RCV001576963]	likely benign	X	71123250	71123250	Human		name
150418943	CV1199535	single nucleotide variant	NM_005120.3(MED12):c.5025+32C>T	not provided [RCV001576957]	likely benign	X	71135285	71135285	Human		name
150449674	CV1202472	single nucleotide variant	NM_005120.3(MED12):c.3692-22A>C	not provided [RCV001585069]	likely benign	X	71129658	71129658	Human		name
150477040	CV1203130	single nucleotide variant	NM_005120.3(MED12):c.3692-11G>A	FG syndrome [RCV003761410]\|not provided [RCV001589724]	likely benign	X	71129669	71129669	Human	1	name
150433495	CV1204102	single nucleotide variant	NM_005120.3(MED12):c.4416-25C>A	not provided [RCV001581850]	likely benign	X	71132820	71132820	Human		name
150433966	CV1204230	single nucleotide variant	NM_005120.3(MED12):c.4415+33G>A	not provided [RCV001581979]	likely benign	X	71132571	71132571	Human		name
150441029	CV1204491	single nucleotide variant	NM_005120.3(MED12):c.5827-33G>A	not provided [RCV001583597]	likely benign	X	71137693	71137693	Human		name
150443931	CV1205194	single nucleotide variant	NM_005120.3(MED12):c.3867+22C>G	not provided [RCV001584037]	likely benign	X	71129877	71129877	Human		name
150467414	CV1207092	single nucleotide variant	NM_005120.3(MED12):c.5025+72T>C	not provided [RCV001587884]	likely benign	X	71135325	71135325	Human		name
150509373	CV1213114	single nucleotide variant	NM_005120.3(MED12):c.2423-51C>G	not provided [RCV001596805]	benign	X	71125985	71125985	Human		name
150463908	CV1214851	single nucleotide variant	NM_005120.3(MED12):c.2055+19G>A	FG syndrome [RCV003597206]\|not provided [RCV001613847]	benign	X	71124863	71124863	Human	1	name
150482851	CV1223493	single nucleotide variant	NM_005120.3(MED12):c.1102-21T>C	not provided [RCV001617206]	benign	X	71122179	71122179	Human		name
150500890	CV1224878	single nucleotide variant	NM_005120.3(MED12):c.6490+52C>T	not provided [RCV001620710]	benign	X	71142016	71142016	Human		name
150446387	CV1232098	duplication	NM_005120.3(MED12):c.6409-71dup	not provided [RCV001646006]	benign	X	71141801	71141802	Human		name
150478531	CV1238922	single nucleotide variant	NM_005120.3(MED12):c.6408+53C>T	not provided [RCV001652387]	benign	X	71141423	71141423	Human		name
150480051	CV1239497	single nucleotide variant	NM_005120.3(MED12):c.4617+25A>G	not provided [RCV001652660]	benign	X	71133237	71133237	Human		name
150481181	CV1239731	single nucleotide variant	NM_005120.3(MED12):c.2850-27C>T	not provided [RCV001652894]	benign	X	71127309	71127309	Human		name
150464437	CV1241289	single nucleotide variant	NM_005120.3(MED12):c.3209+45A>T	not provided [RCV001649800]	benign	X	71128165	71128165	Human		name
150481977	CV1244197	single nucleotide variant	NM_005120.3(MED12):c.2849+39C>T	not provided [RCV001653043]	likely benign	X	71127171	71127171	Human		name
150436976	CV1249793	single nucleotide variant	NM_005120.3(MED12):c.4864-54C>T	not provided [RCV001665707]	benign	X	71135038	71135038	Human		name
150465441	CV1252882	single nucleotide variant	NM_005120.3(MED12):c.2422+16C>A	FG syndrome [RCV003761414]\|not provided [RCV001670206]	benign	X	71125729	71125729	Human	1	name
150474962	CV1252939	single nucleotide variant	NM_005120.3(MED12):c.3867+42G>A	not provided [RCV001671847]	benign	X	71129897	71129897	Human		name
150502844	CV1254634	single nucleotide variant	NM_005120.3(MED12):c.4416-15T>C	FG syndrome [RCV003761415]\|not provided [RCV001677336]	benign\|likely benign	X	71132830	71132830	Human	1	name
150466050	CV1255675	single nucleotide variant	NM_005120.3(MED12):c.2423-38T>C	not provided [RCV001670309]	benign	X	71125998	71125998	Human		name
150469812	CV1259721	single nucleotide variant	NM_005120.3(MED12):c.1618-12G>A	not provided [RCV001684022]	likely benign	X	71123582	71123582	Human		name
150488064	CV1262831	single nucleotide variant	NM_005120.3(MED12):c.6491-40G>A	not provided [RCV001687229]	benign	X	71142135	71142135	Human		name
150489760	CV1267499	single nucleotide variant	NM_005120.3(MED12):c.3209+35C>T	not provided [RCV001687523]	benign	X	71128155	71128155	Human		name
150445731	CV1271757	single nucleotide variant	NM_005120.3(MED12):c.3691+38A>G	not provided [RCV001691171]	benign	X	71129467	71129467	Human		name
150446137	CV1271824	single nucleotide variant	NM_005120.3(MED12):c.6045-50C>T	not provided [RCV001691238]	benign	X	71140585	71140585	Human		name
150451144	CV1276555	single nucleotide variant	NM_005120.3(MED12):c.4617+51G>A	not provided [RCV001708344]	benign	X	71133263	71133263	Human		name
150479395	CV1282264	single nucleotide variant	NM_005120.3(MED12):c.4120-85C>T	not provided [RCV001714459]	benign	X	71131988	71131988	Human		name
150542092	CV1298201	single nucleotide variant	NM_005120.3(MED12):c.4728-11T>G	not provided [RCV001768814]	uncertain significance	X	71134702	71134702	Human		name
8691935	CV141901	single nucleotide variant	NM_005120.3(MED12):c.1248+15T>C	FG syndrome [RCV003761774]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002390286]\|not provided [RCV000514187]\|not specified [RCV000193778]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71122361	71122361	Human	2	name
151777251	CV1449555	single nucleotide variant	NM_005120.3(MED12):c.3210-20G>A	FG syndrome [RCV003597281]	likely benign	X	71128276	71128276	Human	1	name
152045389	CV1525711	single nucleotide variant	NM_005120.3(MED12):c.3692-12C>T	FG syndrome [RCV003763032]	likely benign	X	71129668	71129668	Human	1	name
152110918	CV1537066	single nucleotide variant	NM_005120.3(MED12):c.4863+19G>A	FG syndrome [RCV003762171]	likely benign	X	71134867	71134867	Human	1	name
152031544	CV1548749	single nucleotide variant	NM_005120.3(MED12):c.4863+16G>A	FG syndrome [RCV003763010]	benign	X	71134864	71134864	Human	1	name
152072240	CV1549331	single nucleotide variant	NM_005120.3(MED12):c.2541+13G>C	FG syndrome [RCV003763014]	likely benign	X	71126167	71126167	Human	1	name
152109277	CV1550924	single nucleotide variant	NM_005120.3(MED12):c.1348+14A>C	FG syndrome [RCV003597377]	likely benign	X	71122621	71122621	Human	1	name
152041962	CV1553648	single nucleotide variant	NM_005120.3(MED12):c.5026-13T>C	FG syndrome [RCV003762182]	likely benign	X	71136268	71136268	Human	1	name
152088946	CV1563013	single nucleotide variant	NM_005120.3(MED12):c.2686-15C>T	FG syndrome [RCV003597389]	benign	X	71126954	71126954	Human	1	name
152156822	CV1573110	single nucleotide variant	NM_005120.3(MED12):c.2372-10C>G	FG syndrome [RCV003597308]	likely benign	X	71125653	71125653	Human	1	name
152070085	CV1579677	single nucleotide variant	NM_005120.3(MED12):c.4253+16G>A	FG syndrome [RCV003773810]	benign	X	71132222	71132222	Human	1	name
152080778	CV1580081	single nucleotide variant	NM_005120.3(MED12):c.4728-10C>T	FG syndrome [RCV003773811]	likely benign	X	71134703	71134703	Human	1	name
152124863	CV1580575	single nucleotide variant	NM_005120.3(MED12):c.3692-16C>T	FG syndrome [RCV003763008]	likely benign	X	71129664	71129664	Human	1	name
152149562	CV1583145	single nucleotide variant	NM_005120.3(MED12):c.1102-20T>C	FG syndrome [RCV003773557]	likely benign	X	71122180	71122180	Human	1	name
152161681	CV1584551	single nucleotide variant	NM_005120.3(MED12):c.4415+13A>C	FG syndrome [RCV003763021]	likely benign	X	71132551	71132551	Human	1	name
152093412	CV1584805	single nucleotide variant	NM_005120.3(MED12):c.4527+11C>G	FG syndrome [RCV003763022]	likely benign	X	71132967	71132967	Human	1	name
152096231	CV1586838	single nucleotide variant	NM_005120.3(MED12):c.2685+17G>T	FG syndrome [RCV003762178]	benign	X	71126501	71126501	Human	1	name
152135532	CV1594994	single nucleotide variant	NM_005120.3(MED12):c.5827-15C>G	FG syndrome [RCV003762161]	likely benign	X	71137711	71137711	Human	1	name
152053616	CV1595896	single nucleotide variant	NM_005120.3(MED12):c.5400+15C>T	FG syndrome [RCV003762136]	likely benign	X	71136670	71136670	Human	1	name
152174477	CV1601984	single nucleotide variant	NM_005120.3(MED12):c.6044+20G>T	FG syndrome [RCV003773989]\|not specified [RCV005406385]	likely benign	X	71137963	71137963	Human	1	name
152076550	CV1604551	single nucleotide variant	NM_005120.3(MED12):c.1485+14G>A	FG syndrome [RCV003762129]	likely benign	X	71122888	71122888	Human	1	name
152037052	CV1605501	single nucleotide variant	NM_005120.3(MED12):c.2850-13C>T	FG syndrome [RCV003773562]	likely benign	X	71127323	71127323	Human	1	name
152064617	CV1612309	single nucleotide variant	NM_005120.3(MED12):c.4415+20G>A	FG syndrome [RCV003773921]\|not specified [RCV005058094]	likely benign	X	71132558	71132558	Human	1	name
152171101	CV1612804	deletion	NM_005120.3(MED12):c.5749-11del	FG syndrome [RCV003762998]	benign	X	71137544	71137544	Human	1	name
152171107	CV1612810	single nucleotide variant	NM_005120.3(MED12):c.2849+11C>G	FG syndrome [RCV003762999]	likely benign	X	71127143	71127143	Human	1	name
152105180	CV1614631	single nucleotide variant	NM_005120.3(MED12):c.6044+15G>C	FG syndrome [RCV003773814]	likely benign	X	71137958	71137958	Human	1	name
152157703	CV1615983	single nucleotide variant	NM_005120.3(MED12):c.4527+19T>C	FG syndrome [RCV003597405]	likely benign	X	71132975	71132975	Human	1	name
152061449	CV1618472	single nucleotide variant	NM_005120.3(MED12):c.1974+15C>T	FG syndrome [RCV003773578]\|X-linked intellectual disability with marfanoid habitus [RCV002494023]	benign\|likely benign	X	71124403	71124403	Human	5	name
152118261	CV1620123	single nucleotide variant	NM_005120.3(MED12):c.4528-20T>G	FG syndrome [RCV003762165]	likely benign	X	71133103	71133103	Human	1	name
152083080	CV1647789	single nucleotide variant	NM_005120.3(MED12):c.4120-11A>C	FG syndrome [RCV003762135]	likely benign	X	71132062	71132062	Human	1	name
152108629	CV1648318	single nucleotide variant	NM_005120.3(MED12):c.3692-14C>T	FG syndrome [RCV003763023]	likely benign	X	71129666	71129666	Human	1	name
156391050	CV1872766	single nucleotide variant	NM_005120.3(MED12):c.2685+20G>A	FG syndrome [RCV003596180]	benign	X	71126504	71126504	Human	1	name
156403854	CV1886423	single nucleotide variant	NM_005120.3(MED12):c.2686-17C>G	FG syndrome [RCV003761515]	likely benign	X	71126952	71126952	Human	1	name
156410263	CV1888410	single nucleotide variant	NM_005120.3(MED12):c.1101+14G>C	FG syndrome [RCV003761498]	likely benign	X	71121830	71121830	Human	1	name
156347558	CV1893117	single nucleotide variant	NM_005120.3(MED12):c.4527+18A>T	FG syndrome [RCV003596195]	likely benign	X	71132974	71132974	Human	1	name
156272263	CV1899505	single nucleotide variant	NM_005120.3(MED12):c.5749-11T>G	FG syndrome [RCV003761541]	likely benign	X	71137547	71137547	Human	1	name
156323088	CV1908293	single nucleotide variant	NM_005120.3(MED12):c.6491-20T>C	FG syndrome [RCV003761551]	benign	X	71142155	71142155	Human	1	name
156089192	CV1919659	single nucleotide variant	NM_005120.3(MED12):c.3476-20C>G	FG syndrome [RCV003596199]	likely benign	X	71129094	71129094	Human	1	name
155947349	CV1921694	single nucleotide variant	NM_005120.3(MED12):c.5827-15C>T	FG syndrome [RCV003761573]	benign	X	71137711	71137711	Human	1	name
156155664	CV1926178	single nucleotide variant	NM_005120.3(MED12):c.1101+14G>A	FG syndrome [RCV003596203]	benign	X	71121830	71121830	Human	1	name
156356844	CV1927023	single nucleotide variant	NM_005120.3(MED12):c.1249-16C>T	FG syndrome [RCV003596211]	likely benign	X	71122492	71122492	Human	1	name
156449606	CV1941870	single nucleotide variant	NM_005120.3(MED12):c.4618-19C>T	FG syndrome [RCV003761619]	likely benign	X	71134338	71134338	Human	1	name
156437496	CV1947502	single nucleotide variant	NM_005120.3(MED12):c.4727+18G>A	FG syndrome [RCV003761611]	likely benign	X	71134484	71134484	Human	1	name
156235412	CV1952756	single nucleotide variant	NM_005120.3(MED12):c.1101+19C>T	FG syndrome [RCV003776547]	likely benign	X	71121835	71121835	Human	1	name
156180873	CV1953465	single nucleotide variant	NM_005120.3(MED12):c.3692-20C>T	FG syndrome [RCV003776562]	likely benign	X	71129660	71129660	Human	1	name
156112756	CV1957922	single nucleotide variant	NM_005120.3(MED12):c.3578-11G>A	FG syndrome [RCV003776590]	likely benign	X	71129305	71129305	Human	1	name
156117697	CV1982591	single nucleotide variant	NM_005120.3(MED12):c.1486-13C>T	FG syndrome [RCV003776724]	likely benign	X	71123082	71123082	Human	1	name
155904566	CV2007248	single nucleotide variant	NM_005120.3(MED12):c.2056-16C>G	FG syndrome [RCV003776814]	likely benign	X	71124960	71124960	Human	1	name
156270173	CV2008232	single nucleotide variant	NM_005120.3(MED12):c.2686-20A>T	FG syndrome [RCV003776834]	likely benign	X	71126949	71126949	Human	1	name
155945206	CV2032662	single nucleotide variant	NM_005120.3(MED12):c.3355-14G>T	FG syndrome [RCV003776892]	benign	X	71128584	71128584	Human	1	name
156202370	CV2034793	single nucleotide variant	NM_005120.3(MED12):c.5400+11C>T	FG syndrome [RCV003776905]	likely benign	X	71136666	71136666	Human	1	name
155930644	CV2035033	single nucleotide variant	NM_005120.3(MED12):c.2055+18C>T	FG syndrome [RCV003776926]	likely benign	X	71124862	71124862	Human	1	name
156012989	CV2042208	single nucleotide variant	NM_005120.3(MED12):c.1248+13A>G	FG syndrome [RCV003776920]	likely benign	X	71122359	71122359	Human	1	name
156142690	CV2044559	single nucleotide variant	NM_005120.3(MED12):c.4416-20C>T	FG syndrome [RCV003776991]	likely benign	X	71132825	71132825	Human	1	name
156040941	CV2049722	deletion	NM_005120.3(MED12):c.4864-12del	FG syndrome [RCV003763212]	likely benign	X	71135079	71135079	Human	1	name
156259778	CV2057073	single nucleotide variant	NM_005120.3(MED12):c.4527+16C>T	FG syndrome [RCV003763226]	likely benign	X	71132972	71132972	Human	1	name
156310872	CV2076283	deletion	NM_005120.3(MED12):c.6408+22del	FG syndrome [RCV003764000]	benign	X	71141389	71141389	Human	1	name
156215950	CV2085408	single nucleotide variant	NM_005120.3(MED12):c.6268-17C>G	FG syndrome [RCV003764019]	likely benign	X	71141213	71141213	Human	1	name
10411688	CV210549	single nucleotide variant	NM_005120.3(MED12):c.1101+18C>T	FG syndrome [RCV003761815]\|not specified [RCV000200785]	benign	X	71121834	71121834	Human	1	name
10410021	CV210561	single nucleotide variant	NM_005120.3(MED12):c.2981+13G>A	FG syndrome [RCV003761817]\|not provided [RCV004713404]\|not specified [RCV000197322]	benign	X	71127480	71127480	Human	1	name
10410372	CV210572	single nucleotide variant	NM_005120.3(MED12):c.5748+16G>T	FG syndrome [RCV003765251]\|not provided [RCV001701876]\|not specified [RCV000198049]	benign\|likely benign	X	71137399	71137399	Human	1	name
156390452	CV2122441	single nucleotide variant	NM_005120.3(MED12):c.5025+20C>T	FG syndrome [RCV003764089]	benign	X	71135273	71135273	Human	1	name
156375551	CV2124075	single nucleotide variant	NM_005120.3(MED12):c.5400+16G>A	FG syndrome [RCV003596126]	likely benign	X	71136671	71136671	Human	1	name
155947903	CV2136604	single nucleotide variant	NM_005120.3(MED12):c.2849+15G>A	FG syndrome [RCV003596158]	likely benign	X	71127147	71127147	Human	1	name
155985203	CV2136850	single nucleotide variant	NM_005120.3(MED12):c.4047+20G>A	FG syndrome [RCV003596162]	likely benign	X	71130234	71130234	Human	1	name
155934035	CV2138576	single nucleotide variant	NM_005120.3(MED12):c.3577+12T>C	FG syndrome [RCV003596152]	likely benign	X	71129227	71129227	Human	1	name
156365562	CV2176968	single nucleotide variant	NM_005120.3(MED12):c.2982-14C>T	FG syndrome [RCV003761443]	uncertain significance	X	71127879	71127879	Human	1	name
11545000	CV257868	single nucleotide variant	NM_005120.3(MED12):c.2422+30C>T	Blepharophimosis - intellectual disability syndrome, MKB type [RCV001775737]\|FG syndrome 1 [RCV001775735]\|X-linked intellectual disability with marfanoid habitus [RCV001775736]\|not provided [RCV001711561]\|not specified [RCV000244546]	benign	X	71125743	71125743	Human	4	name
11548609	CV257869	single nucleotide variant	NM_005120.3(MED12):c.3354+26A>G	not specified [RCV000249305]	likely benign	X	71128466	71128466	Human		name
11551618	CV257870	single nucleotide variant	NM_005120.3(MED12):c.3354+27G>C	Blepharophimosis - intellectual disability syndrome, MKB type [RCV001775740]\|FG syndrome 1 [RCV001775738]\|X-linked intellectual disability with marfanoid habitus [RCV001775739]\|not provided [RCV001711701]\|not specified [RCV000253275]	benign	X	71128467	71128467	Human	4	name
11548987	CV257871	single nucleotide variant	NM_005120.3(MED12):c.4415+29T>C	Blepharophimosis - intellectual disability syndrome, MKB type [RCV001775743]\|FG syndrome 1 [RCV001775741]\|X-linked intellectual disability with marfanoid habitus [RCV001775742]\|not provided [RCV000832624]\|not specified [RCV000249822]	benign	X	71132567	71132567	Human	4	name
11551359	CV257872	single nucleotide variant	NM_005120.3(MED12):c.4416-48T>C	not provided [RCV001711818]\|not specified [RCV000252949]	benign\|likely benign	X	71132797	71132797	Human		name
11545769	CV257873	single nucleotide variant	NM_005120.3(MED12):c.5401-25C>T	not provided [RCV001683049]\|not specified [RCV000245586]	benign\|likely benign	X	71136854	71136854	Human		name
11543135	CV257874	single nucleotide variant	NM_005120.3(MED12):c.6045-24C>T	not provided [RCV000833195]\|not specified [RCV000242050]	likely benign	X	71140611	71140611	Human		name
329952890	CV2670231	single nucleotide variant	NM_005120.3(MED12):c.3868-21C>A	not provided [RCV003233441]	uncertain significance	X	71130014	71130014	Human		name
401928694	CV2829239	single nucleotide variant	NM_005120.3(MED12):c.4416-73T>C	not provided [RCV003439575]	likely benign	X	71132772	71132772	Human		name
405083565	CV2854367	single nucleotide variant	NM_005120.3(MED12):c.1485+20G>C	FG syndrome [RCV003596285]	likely benign	X	71122894	71122894	Human	1	name
405084294	CV2857458	single nucleotide variant	NM_005120.3(MED12):c.3691+10T>C	FG syndrome [RCV003596278]	likely benign	X	71129439	71129439	Human	1	name
405084891	CV2862769	single nucleotide variant	NM_005120.3(MED12):c.2850-16T>C	FG syndrome [RCV003596339]	likely benign	X	71127320	71127320	Human	1	name
405084997	CV2863137	single nucleotide variant	NM_005120.3(MED12):c.6490+10C>T	FG syndrome [RCV003596350]	likely benign	X	71141974	71141974	Human	1	name
405084486	CV2864302	single nucleotide variant	NM_005120.3(MED12):c.3692-17C>T	FG syndrome [RCV003596287]	likely benign	X	71129663	71129663	Human	1	name
405084768	CV2871518	single nucleotide variant	NM_005120.3(MED12):c.1486-14C>T	FG syndrome [RCV003596390]	likely benign	X	71123081	71123081	Human	1	name
405085508	CV2875180	single nucleotide variant	NM_005120.3(MED12):c.4527+14G>A	FG syndrome [RCV003596401]	likely benign	X	71132970	71132970	Human	1	name
405088055	CV2887097	single nucleotide variant	NM_005120.3(MED12):c.1101+16G>A	FG syndrome [RCV003596823]	likely benign	X	71121832	71121832	Human	1	name
405086793	CV2889094	single nucleotide variant	NM_005120.3(MED12):c.4120-17C>A	FG syndrome [RCV003596772]	likely benign	X	71132056	71132056	Human	1	name
405088031	CV2890070	single nucleotide variant	NM_005120.3(MED12):c.2542-19C>T	FG syndrome [RCV003596818]	likely benign	X	71126322	71126322	Human	1	name
405087337	CV2890268	single nucleotide variant	NM_005120.3(MED12):c.1975-16T>C	FG syndrome [RCV003596820]	uncertain significance	X	71124748	71124748	Human	1	name
405088948	CV2895734	single nucleotide variant	NM_005120.3(MED12):c.1744+10C>T	FG syndrome [RCV003596884]	likely benign	X	71123730	71123730	Human	1	name
405088153	CV2895890	single nucleotide variant	NM_005120.3(MED12):c.5749-15C>T	FG syndrome [RCV003596885]	benign	X	71137543	71137543	Human	1	name
405088903	CV2899537	single nucleotide variant	NM_005120.3(MED12):c.4618-13G>T	FG syndrome [RCV003596879]	likely benign	X	71134344	71134344	Human	1	name
405089036	CV2899992	single nucleotide variant	NM_005120.3(MED12):c.5025+11T>C	FG syndrome [RCV003596896]	likely benign	X	71135264	71135264	Human	1	name
405087779	CV2901466	single nucleotide variant	NM_005120.3(MED12):c.6045-10A>G	FG syndrome [RCV003596855]	likely benign	X	71140625	71140625	Human	1	name
405088432	CV2902144	single nucleotide variant	NM_005120.3(MED12):c.6045-13C>G	FG syndrome [RCV003596876]	likely benign	X	71140622	71140622	Human	1	name
405088554	CV2903600	single nucleotide variant	NM_005120.3(MED12):c.2422+11G>A	FG syndrome [RCV003596919]	uncertain significance	X	71125724	71125724	Human	1	name
405089420	CV2913296	single nucleotide variant	NM_005120.3(MED12):c.5748+11T>G	FG syndrome [RCV003596990]	uncertain significance	X	71137394	71137394	Human	1	name
405090459	CV2913549	single nucleotide variant	NM_005120.3(MED12):c.4415+11T>A	FG syndrome [RCV003596996]	likely benign	X	71132549	71132549	Human	1	name
405091166	CV2914621	single nucleotide variant	NM_005120.3(MED12):c.4048-11C>G	FG syndrome [RCV003597046]	likely benign	X	71131539	71131539	Human	1	name
405092094	CV2928959	single nucleotide variant	NM_005120.3(MED12):c.3578-11G>T	FG syndrome [RCV003597129]	likely benign	X	71129305	71129305	Human	1	name
405091529	CV2932951	single nucleotide variant	NM_005120.3(MED12):c.2372-15T>A	FG syndrome [RCV003597157]	uncertain significance	X	71125648	71125648	Human	1	name
405092584	CV2933925	single nucleotide variant	NM_005120.3(MED12):c.5025+10A>G	FG syndrome [RCV003597195]	likely benign	X	71135263	71135263	Human	1	name
405057982	CV2943161	single nucleotide variant	NM_005120.3(MED12):c.3476-12T>C	FG syndrome [RCV003761697]	likely benign	X	71129102	71129102	Human	1	name
405063194	CV2979972	single nucleotide variant	NM_005120.3(MED12):c.5749-20G>T	FG syndrome [RCV003762568]	likely benign	X	71137538	71137538	Human	1	name
405062204	CV2980857	single nucleotide variant	NM_005120.3(MED12):c.4416-13C>T	FG syndrome [RCV003762486]	likely benign	X	71132832	71132832	Human	1	name
405066715	CV3018595	single nucleotide variant	NM_005120.3(MED12):c.3868-11A>G	FG syndrome [RCV003763366]	uncertain significance	X	71130024	71130024	Human	1	name
405073901	CV3052768	single nucleotide variant	NM_005120.3(MED12):c.1102-14T>C	FG syndrome [RCV003764256]	likely benign	X	71122186	71122186	Human	1	name
405073024	CV3056115	single nucleotide variant	NM_005120.3(MED12):c.6409-12A>G	FG syndrome [RCV003764233]	likely benign	X	71141871	71141871	Human	1	name
405073883	CV3067007	single nucleotide variant	NM_005120.3(MED12):c.4527+18A>G	FG syndrome [RCV003764252]	benign	X	71132974	71132974	Human	1	name
405076141	CV3071125	single nucleotide variant	NM_005120.3(MED12):c.5749-17C>T	FG syndrome [RCV003764393]	likely benign	X	71137541	71137541	Human	1	name
405076375	CV3074937	single nucleotide variant	NM_005120.3(MED12):c.3210-18A>G	FG syndrome [RCV003764426]	likely benign	X	71128278	71128278	Human	1	name
405076387	CV3074976	single nucleotide variant	NM_005120.3(MED12):c.3355-11T>C	FG syndrome [RCV003764427]	benign	X	71128587	71128587	Human	1	name
405075872	CV3078727	single nucleotide variant	NM_005120.3(MED12):c.4727+17C>T	FG syndrome [RCV003764372]	benign	X	71134483	71134483	Human	1	name
405094439	CV3118929	single nucleotide variant	NM_005120.3(MED12):c.4617+13G>C	FG syndrome [RCV003811380]	likely benign	X	71133225	71133225	Human	1	name
405115905	CV3119201	single nucleotide variant	NM_005120.3(MED12):c.5552-20C>T	FG syndrome [RCV003814237]	likely benign	X	71137167	71137167	Human	1	name
405188449	CV3121303	single nucleotide variant	NM_005120.3(MED12):c.6408+19C>T	FG syndrome [RCV003820759]	likely benign	X	71141389	71141389	Human	1	name
405073430	CV3145411	single nucleotide variant	NM_005120.3(MED12):c.4047+13C>T	FG syndrome [RCV003850996]	likely benign	X	71130227	71130227	Human	1	name
405214141	CV3169942	single nucleotide variant	NM_005120.3(MED12):c.6409-14C>G	FG syndrome [RCV003862546]	likely benign	X	71141869	71141869	Human	1	name
402483755	CV3170959	single nucleotide variant	NM_005120.3(MED12):c.2371+13C>T	FG syndrome [RCV003876162]	likely benign	X	71125508	71125508	Human	1	name
402476865	CV3173789	single nucleotide variant	NM_005120.3(MED12):c.1617+16T>A	FG syndrome [RCV003875327]	likely benign	X	71123242	71123242	Human	1	name
402479716	CV3174368	single nucleotide variant	NM_005120.3(MED12):c.2055+20T>C	FG syndrome [RCV003875715]	likely benign	X	71124864	71124864	Human	1	name
402520735	CV3175352	single nucleotide variant	NM_005120.3(MED12):c.2686-16C>A	FG syndrome [RCV003879635]	likely benign	X	71126953	71126953	Human	1	name
405255198	CV3175725	single nucleotide variant	NM_005120.3(MED12):c.4048-20G>T	FG syndrome [RCV003871993]	likely benign	X	71131530	71131530	Human	1	name
402495222	CV3183071	single nucleotide variant	NM_005120.3(MED12):c.1485+11A>G	FG syndrome [RCV003877379]	likely benign	X	71122885	71122885	Human	1	name
408387748	CV3527179	single nucleotide variant	NM_005120.3(MED12):c.1102-11C>A	not provided [RCV004773481]	uncertain significance	X	71122189	71122189	Human		name
597907926	CV3738959	single nucleotide variant	NM_005120.3(MED12):c.6409-18C>T	FG syndrome [RCV005073194]	likely benign	X	71141865	71141865	Human	1	name
597864879	CV3742248	single nucleotide variant	NM_005120.3(MED12):c.3578-13T>C	FG syndrome [RCV005067864]	likely benign	X	71129303	71129303	Human	1	name
597851851	CV3746922	single nucleotide variant	NM_005120.3(MED12):c.3691+20G>A	FG syndrome [RCV005060550]	likely benign	X	71129449	71129449	Human	1	name
597875728	CV3747801	single nucleotide variant	NM_005120.3(MED12):c.6045-16C>T	FG syndrome [RCV005069292]	likely benign	X	71140619	71140619	Human	1	name
597952168	CV3756405	single nucleotide variant	NM_005120.3(MED12):c.3355-18G>C	FG syndrome [RCV005079462]	likely benign	X	71128580	71128580	Human	1	name
597943325	CV3765775	single nucleotide variant	NM_005120.3(MED12):c.3867+20C>T	FG syndrome [RCV005119153]	likely benign	X	71129875	71129875	Human	1	name
597875302	CV3766207	single nucleotide variant	NM_005120.3(MED12):c.4253+20G>C	FG syndrome [RCV005108339]	likely benign	X	71132226	71132226	Human	1	name
597878631	CV3766696	single nucleotide variant	NM_005120.3(MED12):c.4119+18C>T	FG syndrome [RCV005108636]	likely benign	X	71131639	71131639	Human	1	name
597864869	CV3767110	single nucleotide variant	NM_005120.3(MED12):c.4863+20G>A	FG syndrome [RCV005106632]	likely benign	X	71134868	71134868	Human	1	name
597873540	CV3769775	single nucleotide variant	NM_005120.3(MED12):c.2422+17C>T	FG syndrome [RCV005108033]	likely benign	X	71125730	71125730	Human	1	name
597927201	CV3783335	single nucleotide variant	NM_005120.3(MED12):c.5026-20T>C	FG syndrome [RCV005116021]	likely benign	X	71136261	71136261	Human	1	name
12839218	CV378559	single nucleotide variant	NM_005120.3(MED12):c.1349-11T>C	FG syndrome [RCV003766321]\|not specified [RCV000428405]	likely benign	X	71122727	71122727	Human	1	name
12833336	CV378561	single nucleotide variant	NM_005120.3(MED12):c.1745-19C>T	FG syndrome [RCV003595986]\|not specified [RCV000418305]	likely benign	X	71124140	71124140	Human	1	name
597938916	CV3788381	single nucleotide variant	NM_005120.3(MED12):c.2372-12C>T	FG syndrome [RCV005133056]	likely benign	X	71125651	71125651	Human	1	name
597972747	CV3790429	single nucleotide variant	NM_005120.3(MED12):c.1974+20C>T	FG syndrome [RCV005142852]	likely benign	X	71124408	71124408	Human	1	name
12838254	CV379382	single nucleotide variant	NM_005120.3(MED12):c.2056-20C>T	not specified [RCV000426628]	likely benign	X	71124956	71124956	Human		name
12843452	CV379383	single nucleotide variant	NM_005120.3(MED12):c.3577+17T>G	not specified [RCV000436251]	likely benign	X	71129232	71129232	Human		name
12838274	CV379399	single nucleotide variant	NM_005120.3(MED12):c.4528-19T>C	FG syndrome [RCV003766217]\|not specified [RCV000426669]	benign\|likely benign	X	71133104	71133104	Human	1	name
12844152	CV379402	single nucleotide variant	NM_005120.3(MED12):c.5026-12T>A	FG syndrome [RCV003761985]\|not provided [RCV001703615]	likely benign	X	71136269	71136269	Human	1	name
12843185	CV379407	single nucleotide variant	NM_005120.3(MED12):c.6409-14C>A	FG syndrome [RCV003766276]\|not specified [RCV000435771]	likely benign	X	71141869	71141869	Human	1	name
597948513	CV3800802	single nucleotide variant	NM_005120.3(MED12):c.5826+20A>T	FG syndrome [RCV005135202]	likely benign	X	71137655	71137655	Human	1	name
12840908	CV380110	single nucleotide variant	NM_005120.3(MED12):c.1348+18G>A	FG syndrome [RCV003595963]\|not specified [RCV000431605]	benign\|likely benign	X	71122625	71122625	Human	1	name
12837053	CV380113	single nucleotide variant	NM_005120.3(MED12):c.6044+16G>C	FG syndrome [RCV003762000]\|not specified [RCV000424492]	likely benign	X	71137959	71137959	Human	1	name
12836510	CV380115	single nucleotide variant	NM_005120.3(MED12):c.6267+20T>C	FG syndrome [RCV003762733]\|not specified [RCV000423514]	likely benign	X	71140877	71140877	Human	1	name
12840748	CV380116	single nucleotide variant	NM_005120.3(MED12):c.6408+16C>T	FG syndrome [RCV003761995]\|not specified [RCV000431297]	likely benign\|uncertain significance	X	71141386	71141386	Human	1	name
597971472	CV3802498	single nucleotide variant	NM_005120.3(MED12):c.1744+17C>T	FG syndrome [RCV005142096]	likely benign	X	71123737	71123737	Human	1	name
597941123	CV3819200	single nucleotide variant	NM_005120.3(MED12):c.1248+14C>T	FG syndrome [RCV005159011]	likely benign	X	71122360	71122360	Human	1	name
597838665	CV3828866	single nucleotide variant	NM_005120.3(MED12):c.2227-11C>A	FG syndrome [RCV005171559]	likely benign	X	71125340	71125340	Human	1	name
597900585	CV3835397	single nucleotide variant	NM_005120.3(MED12):c.6045-13C>T	FG syndrome [RCV005181120]	likely benign	X	71140622	71140622	Human	1	name
597887910	CV3839133	single nucleotide variant	NM_005120.3(MED12):c.5552-17C>T	FG syndrome [RCV005179218]	likely benign	X	71137170	71137170	Human	1	name
597945728	CV3844934	single nucleotide variant	NM_005120.3(MED12):c.6044+13G>A	FG syndrome [RCV005188920]	likely benign	X	71137956	71137956	Human	1	name
597916206	CV3845693	single nucleotide variant	NM_005120.3(MED12):c.2686-14G>A	FG syndrome [RCV005183488]	likely benign	X	71126955	71126955	Human	1	name
597916514	CV3845770	single nucleotide variant	NM_005120.3(MED12):c.4527+15G>A	FG syndrome [RCV005183565]	likely benign	X	71132971	71132971	Human	1	name
597904433	CV3846138	single nucleotide variant	NM_005120.3(MED12):c.6408+11G>A	FG syndrome [RCV005181760]	likely benign	X	71141381	71141381	Human	1	name
597885344	CV3854800	single nucleotide variant	NM_005120.3(MED12):c.1617+20A>T	FG syndrome [RCV005199645]	likely benign	X	71123246	71123246	Human	1	name
597887015	CV3855242	single nucleotide variant	NM_005120.3(MED12):c.3354+11G>A	FG syndrome [RCV005199887]	uncertain significance	X	71128451	71128451	Human	1	name
597904243	CV3856306	single nucleotide variant	NM_005120.3(MED12):c.1101+13C>T	FG syndrome [RCV005202534]	likely benign	X	71121829	71121829	Human	1	name
597890327	CV3859970	single nucleotide variant	NM_005120.3(MED12):c.5748+19G>A	FG syndrome [RCV005200441]	likely benign	X	71137402	71137402	Human	1	name
597860981	CV3860125	single nucleotide variant	NM_005120.3(MED12):c.4120-10T>C	FG syndrome [RCV005195854]	likely benign	X	71132063	71132063	Human	1	name
12895872	CV390493	single nucleotide variant	NM_005120.3(MED12):c.4047+14G>A	FG syndrome [RCV003762736]\|not specified [RCV000454572]	likely benign	X	71130228	71130228	Human	1	name
616938651	CV4013235	single nucleotide variant	NM_005120.3(MED12):c.4618-11G>A	not provided [RCV005410702]	uncertain significance	X	71134346	71134346	Human		name
13539784	CV508210	single nucleotide variant	NM_005120.3(MED12):c.1744+14C>T	FG syndrome [RCV003596067]\|not specified [RCV000613752]	likely benign	X	71123734	71123734	Human	1	name
13528214	CV508216	single nucleotide variant	NM_005120.3(MED12):c.4120-12C>T	not specified [RCV000599997]	likely benign	X	71132061	71132061	Human		name
13526645	CV508384	single nucleotide variant	NM_005120.3(MED12):c.4863+15C>T	FG syndrome [RCV003767720]\|not specified [RCV000604403]	benign\|likely benign	X	71134863	71134863	Human	1	name
13541979	CV508638	single nucleotide variant	NM_005120.3(MED12):c.4048-12C>T	not provided [RCV001698459]	likely benign	X	71131538	71131538	Human		name
13538942	CV508642	single nucleotide variant	NM_005120.3(MED12):c.5026-17T>C	not specified [RCV000612588]	likely benign	X	71136264	71136264	Human		name
13528162	CV513401	single nucleotide variant	NM_005120.3(MED12):c.3210-27C>T	Blepharophimosis - intellectual disability syndrome, MKB type [RCV000625905]	uncertain significance	X	71128269	71128269	Human	1	name
14724644	CV670148	single nucleotide variant	NM_005120.3(MED12):c.5401-87T>C	not provided [RCV000833079]	benign	X	71136792	71136792	Human		name
14746166	CV670964	single nucleotide variant	NM_005120.3(MED12):c.553+302C>G	not provided [RCV000844152]	benign	X	71120472	71120472	Human		name
14726389	CV670970	single nucleotide variant	NM_005120.3(MED12):c.1485+96A>G	not provided [RCV000833850]	benign	X	71122970	71122970	Human		name
14726394	CV670976	single nucleotide variant	NM_005120.3(MED12):c.3354+54G>A	not provided [RCV000833852]	benign	X	71128494	71128494	Human		name
14723623	CV671078	single nucleotide variant	NM_005120.3(MED12):c.2056-63G>T	not provided [RCV000832623]	benign	X	71124913	71124913	Human		name
14741238	CV671079	single nucleotide variant	NM_005120.3(MED12):c.3355-16C>G	FG syndrome [RCV003596626]\|not provided [RCV000840697]	benign\|likely benign	X	71128582	71128582	Human	1	name
14723628	CV671081	single nucleotide variant	NM_005120.3(MED12):c.6491-58G>A	not provided [RCV000832625]	benign	X	71142117	71142117	Human	4	name
14723628	CV671081	single nucleotide variant	NM_005120.3(MED12):c.6491-58G>A	not provided [RCV000832625]	benign	X	71142117	71142118	Human	4	name
14723621	CV671172	single nucleotide variant	NM_005120.3(MED12):c.1744+51A>G	not provided [RCV000832622]	benign	X	71123771	71123771	Human		name
14725828	CV671173	single nucleotide variant	NM_005120.3(MED12):c.1974+93G>C	not provided [RCV000833609]	benign	X	71124481	71124481	Human		name
15144574	CV788314	single nucleotide variant	NM_005120.3(MED12):c.2372-10C>T	FG syndrome [RCV003762947]	likely benign	X	71125653	71125653	Human	1	name
38461684	CV920458	single nucleotide variant	NM_005120.3(MED12):c.2982-20C>T	FG syndrome [RCV003763831]\|X-linked intellectual disability with marfanoid habitus [RCV001197839]	likely benign	X	71127873	71127873	Human	2	name
150336599	CV1173599	single nucleotide variant	NM_005120.3(MED12):c.1617+117A>G	not provided [RCV001541061]	likely benign	X	71123343	71123343	Human		name
150406548	CV1195806	single nucleotide variant	NM_005120.3(MED12):c.6409-123C>G	not provided [RCV001572049]	likely benign	X	71141760	71141760	Human		name
150443327	CV1205115	single nucleotide variant	NM_005120.3(MED12):c.4119+183G>A	not provided [RCV001583958]	likely benign	X	71131804	71131804	Human		name
150495873	CV1205925	single nucleotide variant	NM_005120.3(MED12):c.4119+175G>A	not provided [RCV001593607]	likely benign	X	71131796	71131796	Human		name
150492491	CV1225484	duplication	NM_005120.3(MED12):c.4618-106dup	not provided [RCV001618999]	benign	X	71134230	71134231	Human		name
150517311	CV1226759	single nucleotide variant	NM_005120.3(MED12):c.4618-105C>A	not provided [RCV001639853]	benign	X	71134252	71134252	Human		name
150460447	CV1253109	deletion	NM_005120.3(MED12):c.4618-106del	not provided [RCV001669438]	benign	X	71134231	71134231	Human		name
13528814	CV513692	single nucleotide variant	NM_005120.3(MED12):c.6267+166G>A	Blepharophimosis - intellectual disability syndrome, MKB type [RCV000626124]	uncertain significance	X	71141023	71141023	Human	1	name
14735801	CV670146	single nucleotide variant	NM_005120.3(MED12):c.4047+223A>G	not provided [RCV000838183]	benign	X	71130437	71130437	Human		name
14726391	CV670973	single nucleotide variant	NM_005120.3(MED12):c.2422+120T>G	not provided [RCV000833851]	benign	X	71125833	71125833	Human		name
14745344	CV670983	single nucleotide variant	NM_005120.3(MED12):c.5026-249A>T	not provided [RCV000843307]	benign	X	71136032	71136032	Human		name
14724645	CV670986	single nucleotide variant	NM_005120.3(MED12):c.6409-125T>C	not provided [RCV000833080]	benign	X	71141758	71141758	Human		name
14725826	CV671171	single nucleotide variant	NM_005120.3(MED12):c.1102-136G>A	not provided [RCV000833608]	benign	X	71122064	71122064	Human		name
14726397	CV671174	single nucleotide variant	NM_005120.3(MED12):c.4415+128A>G	not provided [RCV000833853]	benign	X	71132666	71132666	Human		name
14724642	CV671175	single nucleotide variant	NM_005120.3(MED12):c.5026-189G>C	not provided [RCV000833078]	benign	X	71136092	71136092	Human		name
14725831	CV671176	single nucleotide variant	NM_005120.3(MED12):c.6409-114T>C	not provided [RCV000833610]	benign	X	71141769	71141769	Human		name
13521494	CV495834	microsatellite	NM_005120.2(MED12):c.6300_6329del	FG syndrome [RCV003767413]\|not provided [RCV000599496]	uncertain significance	X	71141228	71141257	Human		name
14715181	CV653476	microsatellite	NM_005120.2(MED12):c.6273_6278dup	FG syndrome [RCV003762881]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002352349]\|MED12-related disorder [RCV004738012]\|not provided [RCV001556835]	likely benign\|uncertain significance	X	71141227	71141228	Human		name , alternate_id
8639138	CV97587	deletion	NM_005120.3(MED12):c.100-1_139del	Uterine leiomyoma [RCV000077816]	not provided	X	71119371	71119411	Human		name
597965081	CV3797051	microsatellite	NM_005120.3(MED12):c.6490+5GCCT[4]	FG syndrome [RCV005140011]	likely benign	X	71141968	71141969	Human		name
405074772	CV3067977	single nucleotide variant	NM_005120.3(MED12):c.6G>T (p.Ala2=)	FG syndrome [RCV003764294]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004374166]	likely benign	X	71118760	71118760	Human	2	name
8642166	CV101150	microsatellite	NM_005120.3(MED12):c.4416-77CTCTT[6]	not specified [RCV000081264]	benign	X	71132768	71132797	Human		name
156274046	CV2023376	duplication	NM_005120.3(MED12):c.1924_1974+17dup	FG syndrome [RCV003763198]	pathogenic\|uncertain significance	X	71124337	71124338	Human	1	name
10409092	CV210570	microsatellite	NM_005120.3(MED12):c.4416-77CTCTT[7]	not provided [RCV001711607]\|not specified [RCV000195418]	likely pathogenic\|benign\|no classifications from unflagged records	X	71132768	71132792	Human		name
405061035	CV2974049	single nucleotide variant	NM_005120.3(MED12):c.15G>C (p.Gly5=)	FG syndrome [RCV003762395]	likely benign	X	71118769	71118769	Human	1	name
405280490	CV3217812	microsatellite	NM_005120.3(MED12):c.4416-77CTCTT[9]	MED12-related disorder [RCV003985673]	likely benign	X	71132768	71132782	Human		name , trait , alternate_id
12840771	CV380106	single nucleotide variant	NM_005120.3(MED12):c.27C>T (p.Tyr9=)	FG syndrome [RCV003595973]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002436289]\|not specified [RCV000431341]	likely benign	X	71118781	71118781	Human	2	name
12898984	CV411466	microsatellite	NM_005120.3(MED12):c.4416-77CTCTT[8]	MED12-related disorder [RCV003985357]\|not specified [RCV000479134]	likely benign	X	71132768	71132787	Human		name , alternate_id
13527087	CV508222	microsatellite	NM_005120.3(MED12):c.6276_6278dupGCA	FG syndrome [RCV003762830]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315937]\|not provided [RCV003103813]\|not specified [RCV004586829]	likely benign\|uncertain significance	X	71141227	71141228	Human		name
8642164	CV101148	microsatellite	NM_005120.3(MED12):c.4416-77CTCTT[11]	not specified [RCV000081262]	benign	X	71132768	71132772	Human		name
8642165	CV101149	microsatellite	NM_005120.3(MED12):c.4416-77CTCTT[13]	not provided [RCV000081263]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71132767	71132768	Human		name
127306970	CV1129898	single nucleotide variant	NM_005120.3(MED12):c.33C>T (p.His11=)	FG syndrome [RCV003771450]	likely benign	X	71118787	71118787	Human	1	name
150514082	CV1210849	microsatellite	NM_005120.3(MED12):c.4416-77CTCTT[15]	not provided [RCV001598891]	benign	X	71132767	71132768	Human		name
150469850	CV1219142	duplication	NM_005120.3(MED12):c.736-53_736-40dup	not provided [RCV001614894]	benign	X	71121272	71121273	Human		name
152076584	CV1542961	single nucleotide variant	NM_005120.3(MED12):c.96G>A (p.Lys32=)	FG syndrome [RCV003773852]	likely benign	X	71118850	71118850	Human	1	name
155736363	CV1798734	single nucleotide variant	NM_005120.3(MED12):c.46C>A (p.Arg16=)	FG syndrome [RCV003763121]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002330579]	likely benign	X	71118800	71118800	Human	2	name
10051815	CV193946	microsatellite	NM_005120.3(MED12):c.4416-77CTCTT[16]	not provided [RCV000177652]	uncertain significance	X	71132767	71132768	Human		name
10409950	CV210545	microsatellite	NM_005120.3(MED12):c.204+12_204+13del	FG syndrome [RCV003761814]\|not specified [RCV000197184]	likely pathogenic\|benign	X	71119487	71119488	Human		name
401937661	CV2798871	single nucleotide variant	NM_005120.3(MED12):c.5C>T (p.Ala2Val)	MED12-related disorder [RCV003985596]	uncertain significance	X	71118759	71118759	Human		name , trait , alternate_id
405083666	CV2861107	single nucleotide variant	NM_005120.3(MED12):c.99G>A (p.Glu33=)	FG syndrome [RCV003596294]	uncertain significance	X	71118853	71118853	Human	1	name
405106080	CV3139899	single nucleotide variant	NM_005120.3(MED12):c.60G>A (p.Gly20=)	FG syndrome [RCV003835310]	likely benign	X	71118814	71118814	Human	1	name
405280487	CV3217301	single nucleotide variant	NM_005120.3(MED12):c.78T>C (p.Pro26=)	MED12-related disorder [RCV003985671]	likely benign	X	71118832	71118832	Human		name , trait , alternate_id
405280478	CV3221643	microsatellite	NM_005120.3(MED12):c.4416-77CTCTT[10]	MED12-related disorder [RCV003985666]	likely benign	X	71132768	71132777	Human		name , trait , alternate_id
597633428	CV3560035	single nucleotide variant	NM_005120.3(MED12):c.66C>T (p.Pro22=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823846]	likely benign	X	71118820	71118820	Human	1	name
597633441	CV3560041	single nucleotide variant	NM_005120.3(MED12):c.84C>T (p.Asp28=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823851]	likely benign	X	71118838	71118838	Human	1	name
597633443	CV3560042	single nucleotide variant	NM_005120.3(MED12):c.81G>A (p.Gln27=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823852]	likely benign	X	71118835	71118835	Human	1	name
597633446	CV3560043	single nucleotide variant	NM_005120.3(MED12):c.72T>G (p.Val24=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823853]	likely benign	X	71118826	71118826	Human	1	name
597896897	CV3773827	single nucleotide variant	NM_005120.3(MED12):c.5C>G (p.Ala2Gly)	FG syndrome [RCV005111548]	uncertain significance	X	71118759	71118759	Human	1	name
597963006	CV3841092	single nucleotide variant	NM_005120.3(MED12):c.75C>T (p.Tyr25=)	FG syndrome [RCV005193385]	likely benign	X	71118829	71118829	Human	1	name
21073743	CV792496	microsatellite	NM_005120.3(MED12):c.4416-77CTCTT[14]	FG syndrome 1 [RCV000990862]\|not provided [RCV001638030]	benign	X	71132767	71132768	Human		name
126752769	CV999859	single nucleotide variant	NM_005120.3(MED12):c.66C>A (p.Pro22=)	FG syndrome [RCV003763947]	likely benign\|uncertain significance	X	71118820	71118820	Human	1	name
127300826	CV1129900	single nucleotide variant	NM_005120.3(MED12):c.255C>T (p.Thr85=)	FG syndrome [RCV003595800]	likely benign	X	71119736	71119736	Human	1	name
127326720	CV1150920	single nucleotide variant	NM_005120.3(MED12):c.201C>G (p.Ala67=)	FG syndrome [RCV003771496]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003160963]\|not provided [RCV003438829]	likely benign	X	71119474	71119474	Human	2	name
152161562	CV1606179	single nucleotide variant	NM_005120.3(MED12):c.135C>T (p.Phe45=)	FG syndrome [RCV003763048]	likely benign	X	71119408	71119408	Human	1	name
155722119	CV1831291	single nucleotide variant	NM_005120.3(MED12):c.171C>T (p.Gly57=)	FG syndrome [RCV003597445]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002399028]	benign\|likely benign	X	71119444	71119444	Human	2	name
156367611	CV1902864	deletion	NM_005120.3(MED12):c.6408+9_6408+12del	FG syndrome [RCV003761538]	likely benign	X	71141379	71141382	Human	1	name
156440263	CV1946624	deletion	NM_005120.3(MED12):c.2372-17_2372-6del	FG syndrome [RCV003761600]	uncertain significance	X	71125638	71125649	Human	1	name
156356169	CV2019988	single nucleotide variant	NM_005120.3(MED12):c.153C>T (p.Val51=)	FG syndrome [RCV003776867]	likely benign	X	71119426	71119426	Human	1	name
156331096	CV2065374	single nucleotide variant	NM_005120.3(MED12):c.216C>T (p.Asn72=)	FG syndrome [RCV003763993]	likely benign\|uncertain significance	X	71119697	71119697	Human	1	name
156105352	CV2096390	deletion	NM_005120.3(MED12):c.4416-42_4416-9del	FG syndrome [RCV003764066]\|MED12-related disorder [RCV003985567]	likely benign	X	71132796	71132829	Human	1	name , alternate_id
156155411	CV2100494	single nucleotide variant	NM_005120.3(MED12):c.267T>C (p.Thr89=)	FG syndrome [RCV003764033]	uncertain significance	X	71119748	71119748	Human	1	name
10409328	CV210544	single nucleotide variant	NM_005120.2(MED12):c.204G>A (p.Lys68=)	not specified [RCV000195897]	uncertain significance	X	71119477	71119477	Human		name
156108154	CV2121008	single nucleotide variant	NM_005120.3(MED12):c.285A>G (p.Gln95=)	FG syndrome [RCV003596128]	likely benign	X	71119766	71119766	Human	1	name
405062164	CV2983930	single nucleotide variant	NM_005120.3(MED12):c.144G>A (p.Gln48=)	FG syndrome [RCV003762479]	likely benign	X	71119417	71119417	Human	1	name
405131338	CV3133376	microsatellite	NM_005120.3(MED12):c.4254-11_4254-8del	FG syndrome [RCV003838346]	likely benign	X	71132361	71132364	Human		name
405690940	CV3386928	single nucleotide variant	NM_005120.3(MED12):c.120T>C (p.Asn40=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004519288]	likely benign	X	71119393	71119393	Human	1	name
405690818	CV3386929	single nucleotide variant	NM_005120.3(MED12):c.14G>C (p.Gly5Ala)	Familial thoracic aortic aneurysm and aortic dissection [RCV004519289]	uncertain significance	X	71118768	71118768	Human	1	name
407474296	CV3453568	single nucleotide variant	NM_005120.3(MED12):c.13G>A (p.Gly5Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV004638084]	uncertain significance	X	71118767	71118767	Human	1	name
408365739	CV3500045	single nucleotide variant	NM_005120.3(MED12):c.16A>C (p.Ile6Leu)	not provided [RCV004722088]	uncertain significance	X	71118770	71118770	Human		name
597633343	CV3560001	single nucleotide variant	NM_005120.3(MED12):c.240A>G (p.Lys80=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823816]	likely benign	X	71119721	71119721	Human	1	name
597633387	CV3560019	single nucleotide variant	NM_005120.3(MED12):c.258T>C (p.Leu86=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823832]	likely benign	X	71119739	71119739	Human	1	name
597633399	CV3560024	single nucleotide variant	NM_005120.3(MED12):c.273C>A (p.Arg91=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823836]	likely benign	X	71119754	71119754	Human	1	name
597633404	CV3560026	single nucleotide variant	NM_005120.3(MED12):c.270T>G (p.Gly90=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823838]	likely benign	X	71119751	71119751	Human	1	name
597633411	CV3560028	single nucleotide variant	NM_005120.3(MED12):c.252T>C (p.Asn84=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823840]	likely benign	X	71119733	71119733	Human	1	name
597936412	CV3777659	single nucleotide variant	NM_005120.3(MED12):c.111G>T (p.Thr37=)	FG syndrome [RCV005132572]	likely benign	X	71119384	71119384	Human	1	name
12845277	CV380108	single nucleotide variant	NM_005120.3(MED12):c.111G>A (p.Thr37=)	not specified [RCV000439512]	likely benign	X	71119384	71119384	Human		name
597873887	CV3846290	single nucleotide variant	NM_005120.3(MED12):c.117G>A (p.Leu39=)	FG syndrome [RCV005177173]	likely benign	X	71119390	71119390	Human	1	name
13527125	CV508205	single nucleotide variant	NM_005120.3(MED12):c.129A>G (p.Gln43=)	not specified [RCV000605051]	likely benign	X	71119402	71119402	Human		name
13536914	CV508622	single nucleotide variant	NM_005120.3(MED12):c.183C>T (p.Asn61=)	FG syndrome [RCV003596071]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002413759]\|MED12-related disorder [RCV003985395]\|not provided [RCV003437326]\|not specified [RCV000609665]	benign\|likely benign	X	71119456	71119456	Human	2	name , alternate_id
15129552	CV685026	single nucleotide variant	NM_005120.3(MED12):c.147T>A (p.Pro49=)	FG syndrome [RCV003762902]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003380759]	likely benign	X	71119420	71119420	Human	2	name
126759987	CV1015047	single nucleotide variant	NM_005120.3(MED12):c.70G>A (p.Val24Ile)	FG syndrome [RCV003770703]	uncertain significance	X	71118824	71118824	Human	1	name
127239340	CV1086812	single nucleotide variant	NM_005120.3(MED12):c.324A>G (p.Arg108=)	FG syndrome [RCV003595780]	likely benign	X	71119805	71119805	Human	1	name
127271816	CV1086813	single nucleotide variant	NM_005120.3(MED12):c.621A>T (p.Pro207=)	FG syndrome [RCV003771296]\|not provided [RCV001545678]	likely benign	X	71121038	71121038	Human	1	name
127277704	CV1108522	single nucleotide variant	NM_005120.3(MED12):c.831G>A (p.Leu277=)	FG syndrome [RCV003761291]	likely benign	X	71121422	71121422	Human	1	name
127306833	CV1129902	single nucleotide variant	NM_005120.3(MED12):c.477C>T (p.Leu159=)	FG syndrome [RCV003761305]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004038547]	likely benign	X	71120094	71120094	Human	2	name
127328454	CV1150921	single nucleotide variant	NM_005120.3(MED12):c.672T>C (p.His224=)	FG syndrome [RCV003761359]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004037271]	likely benign	X	71121089	71121089	Human	2	name
127333044	CV1150922	single nucleotide variant	NM_005120.3(MED12):c.927G>A (p.Leu309=)	FG syndrome [RCV003771503]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004641658]	likely benign	X	71121642	71121642	Human	2	name
127328551	CV1150927	deletion	NM_005120.3(MED12):c.3867+10_3867+11del	FG syndrome [RCV003761360]	likely benign	X	71129864	71129865	Human	1	name
127306228	CV1159811	single nucleotide variant	NM_005120.3(MED12):c.981G>A (p.Thr327=)	FG syndrome [RCV003761383]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004037937]	benign\|likely benign	X	71121696	71121696	Human	2	name
150497198	CV1208715	single nucleotide variant	NM_005120.3(MED12):c.85C>A (p.Pro29Thr)	FG syndrome [RCV003771798]\|not provided [RCV001593931]	uncertain significance	X	71118839	71118839	Human	1	name
150461352	CV1253230	deletion	NM_005120.3(MED12):c.1618-18_1618-15del	FG syndrome [RCV003597209]\|not provided [RCV001669559]	benign\|likely benign	X	71123574	71123577	Human	1	name
150554544	CV1304254	single nucleotide variant	NM_005120.3(MED12):c.70G>T (p.Val24Phe)	not provided [RCV001771224]	uncertain significance	X	71118824	71118824	Human		name
151233177	CV1317734	single nucleotide variant	NM_005120.3(MED12):c.877C>T (p.Leu293=)	FG syndrome [RCV003772178]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822436]\|not provided [RCV001787500]	likely benign	X	71121592	71121592	Human	2	name
151852579	CV1381687	single nucleotide variant	NM_005120.3(MED12):c.89A>G (p.Lys30Arg)	FG syndrome [RCV003762078]	uncertain significance	X	71118843	71118843	Human	1	name
152094323	CV1561757	single nucleotide variant	NM_005120.3(MED12):c.300T>C (p.Asp100=)	FG syndrome [RCV003762159]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822994]	likely benign	X	71119781	71119781	Human	2	name
152083791	CV1565359	single nucleotide variant	NM_005120.3(MED12):c.669C>G (p.Pro223=)	FG syndrome [RCV003762186]	likely benign	X	71121086	71121086	Human	1	name
152088825	CV1577257	single nucleotide variant	NM_005120.3(MED12):c.399C>A (p.Val133=)	FG syndrome [RCV003773716]	likely benign	X	71120016	71120016	Human	1	name
152033525	CV1581669	single nucleotide variant	NM_005120.3(MED12):c.321A>C (p.Ala107=)	FG syndrome [RCV003773533]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003161325]	benign\|likely benign	X	71119802	71119802	Human	2	name
152049165	CV1656145	single nucleotide variant	NM_005120.3(MED12):c.705C>T (p.Tyr235=)	FG syndrome [RCV003773731]	likely benign	X	71121122	71121122	Human	1	name
9688714	CV177829	single nucleotide variant	NM_005120.3(MED12):c.438A>G (p.Leu146=)	FG syndrome [RCV003761794]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002312996]\|not specified [RCV000153478]	benign\|likely benign	X	71120055	71120055	Human	2	name
155720263	CV1778895	single nucleotide variant	NM_005120.3(MED12):c.33C>A (p.His11Gln)	FG syndrome [RCV003763092]\|not specified [RCV003987993]	uncertain significance	X	71118787	71118787	Human	1	name
155738093	CV1805007	single nucleotide variant	NM_005120.3(MED12):c.456T>C (p.Pro152=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002342130]	likely benign	X	71120073	71120073	Human	1	name
155734942	CV1809706	single nucleotide variant	NM_005120.3(MED12):c.522G>A (p.Lys174=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002340849]	likely benign	X	71120139	71120139	Human	1	name
155698324	CV1811010	single nucleotide variant	NM_005120.3(MED12):c.606T>C (p.Ala202=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002358376]	likely benign	X	71121023	71121023	Human	1	name
10051540	CV193566	single nucleotide variant	NM_005120.3(MED12):c.381G>A (p.Thr127=)	FG syndrome [RCV003761803]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314627]\|MED12-related disorder [RCV003985287]\|not provided [RCV000724071]\|not specified [RCV000177224]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71119862	71119862	Human	2	name , alternate_id
156175600	CV2010345	single nucleotide variant	NM_005120.3(MED12):c.982C>T (p.Leu328=)	FG syndrome [RCV003776880]	likely benign	X	71121697	71121697	Human	1	name
156245506	CV2044707	single nucleotide variant	NM_005120.3(MED12):c.954T>C (p.His318=)	FG syndrome [RCV003776992]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004642041]	benign\|likely benign	X	71121669	71121669	Human	2	name
156285430	CV2050151	single nucleotide variant	NM_005120.3(MED12):c.726C>T (p.Phe242=)	FG syndrome [RCV003763217]	likely benign	X	71121143	71121143	Human	1	name
155938638	CV2075213	single nucleotide variant	NM_005120.3(MED12):c.903T>C (p.Cys301=)	FG syndrome [RCV003763985]	likely benign	X	71121618	71121618	Human	1	name
156076683	CV2098387	single nucleotide variant	NM_005120.3(MED12):c.751A>C (p.Arg251=)	FG syndrome [RCV003764052]	benign	X	71121342	71121342	Human	1	name
10411349	CV210543	single nucleotide variant	NM_005120.2(MED12):c.64C>T (p.Pro22Ser)	not provided [RCV000200077]	likely pathogenic	X	71118818	71118818	Human		name
156233728	CV2118312	single nucleotide variant	NM_005120.3(MED12):c.789G>A (p.Glu263=)	FG syndrome [RCV003764083]	likely benign	X	71121380	71121380	Human	1	name
156351383	CV2122381	single nucleotide variant	NM_005120.3(MED12):c.543C>T (p.Asp181=)	FG syndrome [RCV003596137]	likely benign	X	71120160	71120160	Human	1	name
156107749	CV2161065	single nucleotide variant	NM_005120.3(MED12):c.876C>T (p.Tyr292=)	FG syndrome [RCV003764179]	likely benign	X	71121591	71121591	Human	1	name
243049827	CV2417196	single nucleotide variant	NM_005120.3(MED12):c.34C>T (p.Arg12Trp)	not provided [RCV003152067]	uncertain significance	X	71118788	71118788	Human		name
11346103	CV243818	deletion	NM_005120.2(MED12):c.204+10_204+11delCT	FG syndrome [RCV000227345]	benign	X	71119487	71119488	Human		name , alternate_id
11549997	CV259189	single nucleotide variant	NM_005120.3(MED12):c.492T>C (p.Cys164=)	FG syndrome [RCV003761882]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311185]	likely benign	X	71120109	71120109	Human	2	name
401899342	CV2793759	single nucleotide variant	NM_005120.3(MED12):c.810T>C (p.Asp270=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003377504]	likely benign	X	71121401	71121401	Human	1	name
401928689	CV2829237	duplication	NM_005120.3(MED12):c.4416-78_4416-74dup	not provided [RCV003439573]	likely benign	X	71132762	71132763	Human		name
405084644	CV2861572	single nucleotide variant	NM_005120.3(MED12):c.993C>T (p.Thr331=)	FG syndrome [RCV003596304]	likely benign	X	71121708	71121708	Human	1	name
405085710	CV2868339	single nucleotide variant	NM_005120.3(MED12):c.579C>T (p.Tyr193=)	FG syndrome [RCV003596409]\|MED12-related disorder [RCV003985626]	likely benign	X	71120996	71120996	Human	1	name , alternate_id
405086066	CV2873213	single nucleotide variant	NM_005120.3(MED12):c.795C>T (p.Ile265=)	FG syndrome [RCV003596449]	likely benign	X	71121386	71121386	Human	1	name
405084571	CV2874455	single nucleotide variant	NM_005120.3(MED12):c.82G>A (p.Asp28Asn)	FG syndrome [RCV003596374]\|not provided [RCV004721200]	likely benign\|uncertain significance	X	71118836	71118836	Human	1	name
405061046	CV2974050	single nucleotide variant	NM_005120.3(MED12):c.327C>T (p.Ser109=)	FG syndrome [RCV003762396]	likely benign	X	71119808	71119808	Human	1	name
405062050	CV2976797	single nucleotide variant	NM_005120.3(MED12):c.336C>T (p.Ala112=)	FG syndrome [RCV003762477]	likely benign	X	71119817	71119817	Human	1	name
405067640	CV3025666	single nucleotide variant	NM_005120.3(MED12):c.378C>T (p.Leu126=)	FG syndrome [RCV003763378]	likely benign	X	71119859	71119859	Human	1	name
405068256	CV3030607	single nucleotide variant	NM_005120.3(MED12):c.945C>T (p.His315=)	FG syndrome [RCV003763442]	likely benign	X	71121660	71121660	Human	1	name
405069264	CV3038749	single nucleotide variant	NM_005120.3(MED12):c.489C>A (p.Thr163=)	FG syndrome [RCV003763504]	likely benign	X	71120106	71120106	Human	1	name
405069713	CV3041837	single nucleotide variant	NM_005120.3(MED12):c.310C>T (p.Leu104=)	FG syndrome [RCV003763517]	likely benign	X	71119791	71119791	Human	1	name
405076595	CV3075275	single nucleotide variant	NM_005120.3(MED12):c.37C>T (p.Pro13Ser)	FG syndrome [RCV003764430]	uncertain significance	X	71118791	71118791	Human	1	name
405076318	CV3077009	single nucleotide variant	NM_005120.3(MED12):c.567C>T (p.Ile189=)	FG syndrome [RCV003764413]	likely benign	X	71120984	71120984	Human	1	name
405176901	CV3146889	single nucleotide variant	NM_005120.3(MED12):c.913C>T (p.Leu305=)	FG syndrome [RCV003841984]	likely benign	X	71121628	71121628	Human	1	name
405270479	CV3187742	single nucleotide variant	NM_005120.3(MED12):c.396G>A (p.Lys132=)	See cases [RCV003887825]	uncertain significance	X	71119877	71119877	Human		name
408387517	CV3527087	single nucleotide variant	NM_005120.3(MED12):c.73T>C (p.Tyr25His)	not provided [RCV004773389]	uncertain significance	X	71118827	71118827	Human		name
596946512	CV3548359	single nucleotide variant	NM_005120.3(MED12):c.363T>C (p.Ala121=)	not provided [RCV004810185]	uncertain significance	X	71119844	71119844	Human		name
597633469	CV3560053	single nucleotide variant	NM_005120.3(MED12):c.831G>T (p.Leu277=)	FG syndrome [RCV005107488]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823861]	likely benign	X	71121422	71121422	Human	2	name
597633480	CV3560057	single nucleotide variant	NM_005120.3(MED12):c.849C>T (p.Tyr283=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823865]	likely benign	X	71121564	71121564	Human	1	name
597633490	CV3560062	single nucleotide variant	NM_005120.3(MED12):c.45G>T (p.Lys15Asn)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823869]	uncertain significance	X	71118799	71118799	Human	1	name
597852847	CV3743441	deletion	NM_005120.3(MED12):c.4416-38_4416-14del	FG syndrome [RCV005060791]	uncertain significance	X	71132806	71132830	Human	1	name
12837658	CV379508	single nucleotide variant	NM_005120.3(MED12):c.384A>G (p.Gln128=)	FG syndrome [RCV003766200]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314151]\|MED12-related disorder [RCV003985330]\|X-linked intellectual disability with marfanoid habitus [RCV002488883]\|not provided [RCV001729578]\|not specified [RCV000425539 ... (more) ]	benign\|likely benign	X	71119865	71119865	Human	6	name , alternate_id
12849674	CV380107	single nucleotide variant	NM_005120.3(MED12):c.93G>C (p.Gln31His)	not provided [RCV000433847]	likely pathogenic	X	71118847	71118847	Human		name
597857789	CV3822318	single nucleotide variant	NM_005120.3(MED12):c.909G>C (p.Arg303=)	FG syndrome [RCV005174616]	likely benign	X	71121624	71121624	Human	1	name
597937194	CV3855982	single nucleotide variant	NM_005120.3(MED12):c.765G>A (p.Leu255=)	FG syndrome [RCV005186948]	likely benign	X	71121356	71121356	Human	1	name
597869431	CV3858440	deletion	NM_005120.3(MED12):c.4416-42_4416-15del	FG syndrome [RCV005197183]	uncertain significance	X	71132799	71132826	Human	1	name
12886578	CV404584	single nucleotide variant	NM_005120.3(MED12):c.708C>T (p.Thr236=)	FG syndrome [RCV003595990]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002318554]\|MED12-related disorder [RCV004737547]\|not provided [RCV003437216]	benign\|likely benign	X	71121125	71121125	Human	2	name , alternate_id
13214209	CV430905	single nucleotide variant	NM_005120.3(MED12):c.708C>G (p.Thr236=)	FG syndrome [RCV003766827]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822080]\|not specified [RCV000500867]	likely benign	X	71121125	71121125	Human	2	name
13539449	CV508209	insertion	NM_005120.3(MED12):c.1101+8_1101+9insCC	not specified [RCV000613295]	likely benign	X	71121823	71121824	Human		name
13535238	CV508383	deletion	NM_005120.3(MED12):c.4416-43_4416-14del	not specified [RCV000607629]	likely benign	X	71132801	71132830	Human		name
13540306	CV508633	microsatellite	NM_005120.3(MED12):c.3355-16_3355-13del	FG syndrome [RCV003767593]\|not provided [RCV002251375]	likely benign	X	71128575	71128578	Human		name
13835621	CV586884	single nucleotide variant	NM_005120.3(MED12):c.369C>T (p.Thr123=)	FG syndrome [RCV003768211]\|not provided [RCV000731476]	benign\|uncertain significance	X	71119850	71119850	Human	1	name
15148231	CV689537	single nucleotide variant	NM_005120.3(MED12):c.906A>G (p.Thr302=)	FG syndrome [RCV003596632]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002442825]	benign\|likely benign	X	71121621	71121621	Human	2	name
15151571	CV689538	single nucleotide variant	NM_005120.3(MED12):c.966T>C (p.Ala322=)	FG syndrome [RCV003596633]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004639395]\|not provided [RCV001638003]	likely benign	X	71121681	71121681	Human	2	name
26902502	CV850230	single nucleotide variant	NM_005120.3(MED12):c.76C>G (p.Pro26Ala)	FG syndrome [RCV003595684]	uncertain significance	X	71118830	71118830	Human	1	name
127265981	CV1086818	single nucleotide variant	NM_005120.3(MED12):c.2631C>T (p.Phe877=)	FG syndrome [RCV003595771]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003170013]	likely benign	X	71126430	71126430	Human	2	name
127263790	CV1108523	single nucleotide variant	NM_005120.3(MED12):c.2232G>A (p.Glu744=)	FG syndrome [RCV003761283]	likely benign	X	71125356	71125356	Human	1	name
127305559	CV1129903	single nucleotide variant	NM_005120.3(MED12):c.1257A>C (p.Ala419=)	FG syndrome [RCV003761304]	likely benign	X	71122516	71122516	Human	1	name
127292801	CV1129904	single nucleotide variant	NM_005120.3(MED12):c.1854C>T (p.Leu618=)	FG syndrome [RCV003771443]	likely benign	X	71124268	71124268	Human	1	name
127327116	CV1129905	single nucleotide variant	NM_005120.3(MED12):c.2784T>G (p.Ala928=)	FG syndrome [RCV003761318]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002439115]	likely benign	X	71127067	71127067	Human	2	name
127332387	CV1129906	single nucleotide variant	NM_005120.3(MED12):c.2964A>G (p.Lys988=)	FG syndrome [RCV003761326]\|not specified [RCV004782746]	likely benign	X	71127450	71127450	Human	1	name
127323995	CV1150923	single nucleotide variant	NM_005120.3(MED12):c.1377T>A (p.Thr459=)	FG syndrome [RCV003761354]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002384790]	likely benign	X	71122766	71122766	Human	2	name
127297698	CV1150924	single nucleotide variant	NM_005120.3(MED12):c.1536C>T (p.Val512=)	FG syndrome [RCV003771522]	likely benign	X	71123145	71123145	Human	1	name
127317413	CV1159812	single nucleotide variant	NM_005120.3(MED12):c.1794G>A (p.Leu598=)	FG syndrome [RCV003771570]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822412]	benign\|likely benign	X	71124208	71124208	Human	2	name
127307016	CV1159813	single nucleotide variant	NM_005120.3(MED12):c.2484T>C (p.Asp828=)	FG syndrome [RCV003771566]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005374769]	benign\|likely benign	X	71126097	71126097	Human	2	name
127304133	CV1159814	single nucleotide variant	NM_005120.3(MED12):c.2721G>A (p.Leu907=)	FG syndrome [RCV003595833]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004037933]	benign\|likely benign	X	71127004	71127004	Human	2	name
150423814	CV1185849	single nucleotide variant	NM_005120.3(MED12):c.2172T>C (p.Val724=)	FG syndrome [RCV003595841]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002424979]\|not provided [RCV001555837]	likely benign	X	71125092	71125092	Human	2	name
8660032	CV135036	single nucleotide variant	NM_005120.3(MED12):c.2259G>A (p.Arg753=)	FG syndrome [RCV003764825]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004019641]\|not provided [RCV004713289]\|not specified [RCV000117598]	benign	X	71125383	71125383	Human	2	name
151836428	CV1351231	single nucleotide variant	NM_005120.3(MED12):c.2559G>A (p.Leu853=)	FG syndrome [RCV003762089]	uncertain significance	X	71126358	71126358	Human	1	name
151764789	CV1478454	single nucleotide variant	NM_005120.3(MED12):c.106C>A (p.Leu36Met)	FG syndrome [RCV003773192]	uncertain significance	X	71119379	71119379	Human	1	name
151778947	CV1493435	single nucleotide variant	NM_005120.3(MED12):c.1131G>A (p.Leu377=)	FG syndrome [RCV003772776]	uncertain significance	X	71122229	71122229	Human	1	name
151720261	CV1498298	single nucleotide variant	NM_005120.3(MED12):c.1011A>G (p.Pro337=)	FG syndrome [RCV003762095]	likely benign	X	71121726	71121726	Human	1	name
151729221	CV1517634	single nucleotide variant	NM_005120.3(MED12):c.1746G>A (p.Thr582=)	FG syndrome [RCV003597288]\|X-linked intellectual disability with marfanoid habitus [RCV002052250]	uncertain significance	X	71124160	71124160	Human	2	name
152060830	CV1540873	single nucleotide variant	NM_005120.3(MED12):c.2859C>T (p.Gly953=)	FG syndrome [RCV003597315]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822995]	likely benign	X	71127345	71127345	Human	2	name
152132782	CV1545211	single nucleotide variant	NM_005120.3(MED12):c.2544C>A (p.Val848=)	FG syndrome [RCV003763025]	likely benign	X	71126343	71126343	Human	1	name
152046676	CV1548398	single nucleotide variant	NM_005120.3(MED12):c.2457G>A (p.Arg819=)	FG syndrome [RCV003763003]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823004]	likely benign	X	71126070	71126070	Human	2	name
152104331	CV1574768	single nucleotide variant	NM_005120.3(MED12):c.2619G>A (p.Val873=)	FG syndrome [RCV003762207]	likely benign	X	71126418	71126418	Human	1	name
152144692	CV1576509	single nucleotide variant	NM_005120.3(MED12):c.1554T>A (p.Gly518=)	FG syndrome [RCV003597352]	likely benign	X	71123163	71123163	Human	1	name
152145269	CV1576689	single nucleotide variant	NM_005120.3(MED12):c.2481A>G (p.Glu827=)	FG syndrome [RCV003762212]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823001]	likely benign	X	71126094	71126094	Human	2	name
152153229	CV1577800	single nucleotide variant	NM_005120.3(MED12):c.2469C>T (p.Phe823=)	FG syndrome [RCV003762216]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823003]	likely benign	X	71126082	71126082	Human	2	name
152087186	CV1578308	single nucleotide variant	NM_005120.3(MED12):c.2325C>G (p.Thr775=)	FG syndrome [RCV003773800]	likely benign	X	71125449	71125449	Human	1	name
152068098	CV1592337	single nucleotide variant	NM_005120.3(MED12):c.2451C>A (p.Arg817=)	FG syndrome [RCV003763044]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823011]	likely benign	X	71126064	71126064	Human	2	name
152170258	CV1592338	single nucleotide variant	NM_005120.3(MED12):c.2466C>T (p.Ala822=)	FG syndrome [RCV003763045]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823012]	likely benign	X	71126079	71126079	Human	2	name
152172613	CV1599197	single nucleotide variant	NM_005120.3(MED12):c.1935G>A (p.Glu645=)	FG syndrome [RCV003773955]	likely benign	X	71124349	71124349	Human	1	name
152172659	CV1599221	single nucleotide variant	NM_005120.3(MED12):c.2202C>T (p.Tyr734=)	FG syndrome [RCV003597401]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003161633]	benign\|likely benign	X	71125122	71125122	Human	2	name
152098928	CV1611799	single nucleotide variant	NM_005120.3(MED12):c.2280G>A (p.Val760=)	FG syndrome [RCV003597304]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004631945]	benign\|uncertain significance	X	71125404	71125404	Human	2	name
152122173	CV1640889	single nucleotide variant	NM_005120.3(MED12):c.1773G>A (p.Val591=)	FG syndrome [RCV003762209]	likely benign	X	71124187	71124187	Human	1	name
152058132	CV1651963	single nucleotide variant	NM_005120.3(MED12):c.2478T>C (p.Ala826=)	FG syndrome [RCV003762157]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822992]	likely benign	X	71126091	71126091	Human	2	name
152151512	CV1658834	single nucleotide variant	NM_005120.3(MED12):c.2535G>C (p.Thr845=)	FG syndrome [RCV003773782]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004046353]	likely benign	X	71126148	71126148	Human	2	name
153345705	CV1691346	single nucleotide variant	NM_005120.3(MED12):c.272G>A (p.Arg91His)	FG syndrome [RCV003597421]\|MED12-related intellectual disability syndrome [RCV002272828]	uncertain significance	X	71119753	71119753	Human	2	name
153347696	CV1692212	single nucleotide variant	NM_005120.3(MED12):c.133T>G (p.Phe45Val)	not provided [RCV002273697]	uncertain significance	X	71119406	71119406	Human		name
9688715	CV177830	single nucleotide variant	NM_005120.3(MED12):c.2886C>T (p.Ser962=)	FG syndrome [RCV003764940]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004019837]\|not provided [RCV004713388]\|not specified [RCV000153479]	benign	X	71127372	71127372	Human	2	name
155721393	CV1827511	single nucleotide variant	NM_005120.3(MED12):c.1581G>A (p.Lys527=)	FG syndrome [RCV005097606]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002405816]	likely benign	X	71123190	71123190	Human	2	name
155709590	CV1830856	single nucleotide variant	NM_005120.3(MED12):c.1638C>T (p.Ala546=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002403491]	likely benign	X	71123614	71123614	Human	1	name
155733003	CV1835501	single nucleotide variant	NM_005120.3(MED12):c.1893C>G (p.Pro631=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002408061]	likely benign	X	71124307	71124307	Human	1	name
155722918	CV1836381	single nucleotide variant	NM_005120.3(MED12):c.137A>C (p.Asn46Thr)	FG syndrome [RCV003597438]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002381121]	uncertain significance	X	71119410	71119410	Human	2	name
155677690	CV1848358	single nucleotide variant	NM_005120.3(MED12):c.2455C>A (p.Arg819=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002455449]	likely benign	X	71126068	71126068	Human	1	name
155949067	CV1869320	single nucleotide variant	NM_005120.3(MED12):c.1011A>C (p.Pro337=)	FG syndrome [RCV003596173]	benign	X	71121726	71121726	Human	1	name
156160765	CV1872294	single nucleotide variant	NM_005120.3(MED12):c.2649A>G (p.Ser883=)	FG syndrome [RCV003596172]	likely benign	X	71126448	71126448	Human	1	name
156278666	CV1876924	single nucleotide variant	NM_005120.3(MED12):c.2823G>A (p.Gln941=)	FG syndrome [RCV003761494]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823095]	likely benign	X	71127106	71127106	Human	2	name
156318087	CV1879893	single nucleotide variant	NM_005120.3(MED12):c.2778C>T (p.Ile926=)	FG syndrome [RCV003596183]	benign	X	71127061	71127061	Human	1	name
155988863	CV1894159	single nucleotide variant	NM_005120.3(MED12):c.2667C>T (p.Leu889=)	FG syndrome [RCV003761526]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004632184]	likely benign	X	71126466	71126466	Human	2	name
156335324	CV1905960	single nucleotide variant	NM_005120.3(MED12):c.2193C>T (p.His731=)	FG syndrome [RCV003761534]	likely benign	X	71125113	71125113	Human	1	name
156394188	CV1930856	single nucleotide variant	NM_005120.3(MED12):c.232G>A (p.Ala78Thr)	FG syndrome [RCV003596222]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823120]	likely benign\|uncertain significance	X	71119713	71119713	Human	2	name
156435819	CV1937165	single nucleotide variant	NM_005120.3(MED12):c.2919T>C (p.Ala973=)	FG syndrome [RCV003761610]	likely benign	X	71127405	71127405	Human	1	name
156409040	CV1954615	single nucleotide variant	NM_005120.3(MED12):c.2850G>T (p.Gly950=)	FG syndrome [RCV003776583]	uncertain significance	X	71127336	71127336	Human	1	name
156340643	CV1974076	single nucleotide variant	NM_005120.3(MED12):c.2091C>T (p.Gly697=)	FG syndrome [RCV003776638]	likely benign	X	71125011	71125011	Human	1	name
156392990	CV1983334	single nucleotide variant	NM_005120.3(MED12):c.1029G>A (p.Ser343=)	FG syndrome [RCV003776687]	likely benign	X	71121744	71121744	Human	1	name
156271255	CV2004132	single nucleotide variant	NM_005120.3(MED12):c.2568C>T (p.Ile856=)	FG syndrome [RCV003776737]	benign	X	71126367	71126367	Human	1	name
156398474	CV2013071	single nucleotide variant	NM_005120.3(MED12):c.2271G>C (p.Leu757=)	FG syndrome [RCV003776872]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004067693]	likely benign	X	71125395	71125395	Human	2	name
156321200	CV2014508	single nucleotide variant	NM_005120.3(MED12):c.1875C>T (p.Ala625=)	FG syndrome [RCV003776827]	likely benign	X	71124289	71124289	Human	1	name
156019804	CV2046971	single nucleotide variant	NM_005120.3(MED12):c.1314C>T (p.Arg438=)	FG syndrome [RCV003776957]	likely benign	X	71122573	71122573	Human	1	name
156287954	CV2058217	single nucleotide variant	NM_005120.3(MED12):c.2817C>T (p.Leu939=)	FG syndrome [RCV003763235]	likely benign	X	71127100	71127100	Human	1	name
155937799	CV2071589	single nucleotide variant	NM_005120.3(MED12):c.2235A>G (p.Ser745=)	FG syndrome [RCV003763988]	likely benign	X	71125359	71125359	Human	1	name
156081882	CV2083720	single nucleotide variant	NM_005120.3(MED12):c.1962C>T (p.Ser654=)	FG syndrome [RCV003764003]	likely benign	X	71124376	71124376	Human	1	name
155948129	CV2087736	single nucleotide variant	NM_005120.3(MED12):c.2835A>G (p.Ala945=)	FG syndrome [RCV003764007]	likely benign	X	71127118	71127118	Human	1	name
10404112	CV209154	single nucleotide variant	NM_005120.3(MED12):c.1695T>A (p.Ile565=)	FG syndrome [RCV003765227]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314832]\|not provided [RCV001705081]\|not specified [RCV000194224]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71123671	71123671	Human	2	name
10406407	CV209155	single nucleotide variant	NM_005120.3(MED12):c.1807C>T (p.Leu603=)	FG syndrome [RCV003761810]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002408857]\|not specified [RCV000192456]	likely benign\|uncertain significance	X	71124221	71124221	Human	2	name
10404242	CV209157	single nucleotide variant	NM_005120.3(MED12):c.2274T>C (p.Phe758=)	not specified [RCV000194590]	uncertain significance	X	71125398	71125398	Human		name
10409749	CV210551	single nucleotide variant	NM_005120.3(MED12):c.1386G>T (p.Val462=)	FG syndrome [RCV003761816]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004020374]\|not specified [RCV000196766]	benign	X	71122775	71122775	Human	2	name
156321323	CV2123813	single nucleotide variant	NM_005120.3(MED12):c.1986C>T (p.Leu662=)	FG syndrome [RCV003596146]	likely benign	X	71124775	71124775	Human	1	name
155956191	CV2144035	single nucleotide variant	NM_005120.3(MED12):c.2727C>T (p.Leu909=)	FG syndrome [RCV003596160]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004642104]	benign\|uncertain significance	X	71127010	71127010	Human	2	name
156301924	CV2150009	single nucleotide variant	NM_005120.3(MED12):c.1425C>T (p.Asn475=)	FG syndrome [RCV003764132]	likely benign	X	71122814	71122814	Human	1	name
156242265	CV2173436	single nucleotide variant	NM_005120.3(MED12):c.137A>G (p.Asn46Ser)	FG syndrome [RCV003761444]	likely benign	X	71119410	71119410	Human	1	name
156333100	CV2186484	single nucleotide variant	NM_005120.3(MED12):c.1197T>A (p.Ile399=)	FG syndrome [RCV003761479]	likely benign	X	71122295	71122295	Human	1	name
156296183	CV2233810	single nucleotide variant	NM_005120.3(MED12):c.244C>T (p.Arg82Cys)	Familial thoracic aortic aneurysm and aortic dissection [RCV004102029]	uncertain significance	X	71119725	71119725	Human	1	name
155995825	CV2286567	single nucleotide variant	NM_005120.3(MED12):c.144G>T (p.Gln48His)	Familial thoracic aortic aneurysm and aortic dissection [RCV004140060]	uncertain significance	X	71119417	71119417	Human	1	name
243051281	CV2419772	single nucleotide variant	NM_005120.3(MED12):c.2568C>A (p.Ile856=)	not provided [RCV003156704]	uncertain significance	X	71126367	71126367	Human		name
11348027	CV243821	single nucleotide variant	NM_005120.3(MED12):c.2220C>T (p.Ile740=)	FG syndrome [RCV003595899]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313939]\|not provided [RCV001722248]\|not specified [RCV000502631]	likely benign	X	71125140	71125140	Human	2	name
329384223	CV2472701	single nucleotide variant	NM_005120.3(MED12):c.2322C>T (p.Ile774=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003214073]	likely benign	X	71125446	71125446	Human	1	name
329384941	CV2472705	single nucleotide variant	NM_005120.3(MED12):c.2625C>T (p.Phe875=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003214077]	likely benign	X	71126424	71126424	Human	1	name
11544042	CV259199	single nucleotide variant	NM_005120.3(MED12):c.2982C>T (p.Ser994=)	FG syndrome [RCV005055811]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311153]	likely benign\|uncertain significance	X	71127893	71127893	Human	2	name
401720414	CV2737238	single nucleotide variant	NM_005120.3(MED12):c.1359T>C (p.Ile453=)	not provided [RCV003314177]	uncertain significance	X	71122748	71122748	Human		name
401903232	CV2802638	single nucleotide variant	NM_005120.3(MED12):c.2736G>A (p.Ser912=)	MED12-related disorder [RCV003985623]	uncertain significance	X	71127019	71127019	Human		name , trait , alternate_id
401928686	CV2829236	single nucleotide variant	NM_005120.3(MED12):c.2178C>T (p.Tyr726=)	FG syndrome [RCV003761680]\|not provided [RCV003439572]	likely benign	X	71125098	71125098	Human	1	name
405084943	CV2856315	single nucleotide variant	NM_005120.3(MED12):c.1068G>T (p.Arg356=)	FG syndrome [RCV003596345]	likely benign	X	71121783	71121783	Human	1	name
405083997	CV2862155	single nucleotide variant	NM_005120.3(MED12):c.244C>G (p.Arg82Gly)	FG syndrome [RCV003596324]	uncertain significance	X	71119725	71119725	Human	1	name
405088912	CV2899713	single nucleotide variant	NM_005120.3(MED12):c.1614T>C (p.Ala538=)	FG syndrome [RCV003596881]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005363152]	likely benign	X	71123223	71123223	Human	2	name
405091360	CV2910737	insertion	NM_005120.3(MED12):c.4416-16_4416-15insC	FG syndrome [RCV003597065]	likely benign	X	71132829	71132830	Human	1	name
405090955	CV2913914	single nucleotide variant	NM_005120.3(MED12):c.2616T>C (p.His872=)	FG syndrome [RCV003597013]	likely benign	X	71126415	71126415	Human	1	name
405091805	CV2928715	single nucleotide variant	NM_005120.3(MED12):c.2247G>A (p.Glu749=)	FG syndrome [RCV003597110]	likely benign	X	71125371	71125371	Human	1	name
405060811	CV2966848	single nucleotide variant	NM_005120.3(MED12):c.2622G>A (p.Gln874=)	FG syndrome [RCV003762385]	likely benign	X	71126421	71126421	Human	1	name
405063696	CV2992755	single nucleotide variant	NM_005120.3(MED12):c.2940C>T (p.Thr980=)	FG syndrome [RCV003762626]	likely benign	X	71127426	71127426	Human	1	name
405064742	CV3008496	single nucleotide variant	NM_005120.3(MED12):c.2199G>A (p.Gln733=)	FG syndrome [RCV003762702]	likely benign\|uncertain significance	X	71125119	71125119	Human	1	name
405065692	CV3009383	single nucleotide variant	NM_005120.3(MED12):c.2082G>A (p.Glu694=)	FG syndrome [RCV003763266]	uncertain significance	X	71125002	71125002	Human	1	name
405067433	CV3022050	single nucleotide variant	NM_005120.3(MED12):c.2260T>C (p.Leu754=)	FG syndrome [RCV003763357]	likely benign	X	71125384	71125384	Human	1	name
405069331	CV3032975	single nucleotide variant	NM_005120.3(MED12):c.1077T>G (p.Val359=)	FG syndrome [RCV003763508]	likely benign	X	71121792	71121792	Human	1	name
405069187	CV3039804	single nucleotide variant	NM_005120.3(MED12):c.1374T>C (p.His458=)	FG syndrome [RCV003763539]	likely benign	X	71122763	71122763	Human	1	name
405069699	CV3041633	single nucleotide variant	NM_005120.3(MED12):c.1026C>T (p.Pro342=)	FG syndrome [RCV003763516]	likely benign	X	71121741	71121741	Human	1	name
405071084	CV3044178	single nucleotide variant	NM_005120.3(MED12):c.1281G>A (p.Gln427=)	FG syndrome [RCV003763664]	benign	X	71122540	71122540	Human	1	name
405070419	CV3050021	single nucleotide variant	NM_005120.3(MED12):c.2436G>A (p.Gly812=)	FG syndrome [RCV003763561]	likely benign	X	71126049	71126049	Human	1	name
405070670	CV3054018	single nucleotide variant	NM_005120.3(MED12):c.245G>A (p.Arg82His)	FG syndrome [RCV003763637]	uncertain significance	X	71119726	71119726	Human	1	name
405075622	CV3066508	single nucleotide variant	NM_005120.3(MED12):c.2952T>C (p.His984=)	FG syndrome [RCV003764359]	likely benign	X	71127438	71127438	Human	1	name
405075857	CV3078612	single nucleotide variant	NM_005120.3(MED12):c.2652C>T (p.Leu884=)	FG syndrome [RCV003764371]	likely benign	X	71126451	71126451	Human	1	name
402524241	CV3123619	single nucleotide variant	NM_005120.3(MED12):c.2532C>G (p.Val844=)	FG syndrome [RCV003825045]	uncertain significance	X	71126145	71126145	Human	1	name
405222526	CV3158186	single nucleotide variant	NM_005120.3(MED12):c.2334C>T (p.Ile778=)	FG syndrome [RCV003863682]	likely benign	X	71125458	71125458	Human	1	name
405280477	CV3206270	single nucleotide variant	NM_005120.3(MED12):c.1272C>T (p.Ile424=)	MED12-related disorder [RCV003985665]	likely benign	X	71122531	71122531	Human		name , trait , alternate_id
405691091	CV3386927	single nucleotide variant	NM_005120.3(MED12):c.1203G>T (p.Pro401=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004519287]	likely benign	X	71122301	71122301	Human	1	name
405690814	CV3386930	single nucleotide variant	NM_005120.3(MED12):c.1509G>T (p.Val503=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004519290]	likely benign	X	71123118	71123118	Human	1	name
405691896	CV3386931	single nucleotide variant	NM_005120.3(MED12):c.1647G>A (p.Glu549=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004519291]	likely benign	X	71123623	71123623	Human	1	name
405690824	CV3386932	single nucleotide variant	NM_005120.3(MED12):c.1683C>G (p.Pro561=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004519292]	likely benign	X	71123659	71123659	Human	1	name
405690829	CV3386933	single nucleotide variant	NM_005120.3(MED12):c.188G>C (p.Ser63Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV004519293]	uncertain significance	X	71119461	71119461	Human	1	name
405690849	CV3386937	single nucleotide variant	NM_005120.3(MED12):c.2502G>A (p.Gln834=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004519297]	likely benign	X	71126115	71126115	Human	1	name
405690865	CV3386940	single nucleotide variant	NM_005120.3(MED12):c.2733C>T (p.Ser911=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004519300]	likely benign	X	71127016	71127016	Human	1	name
405690870	CV3386941	single nucleotide variant	NM_005120.3(MED12):c.2913C>T (p.Ile971=)	FG syndrome [RCV005100502]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004519301]	likely benign	X	71127399	71127399	Human	2	name
405690877	CV3386942	single nucleotide variant	NM_005120.3(MED12):c.2928T>C (p.Tyr976=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004519302]	likely benign	X	71127414	71127414	Human	1	name
407474291	CV3453564	single nucleotide variant	NM_005120.3(MED12):c.2604T>C (p.Pro868=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004638081]	likely benign	X	71126403	71126403	Human	1	name
407474294	CV3453565	single nucleotide variant	NM_005120.3(MED12):c.1608T>C (p.Ile536=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004638082]	likely benign	X	71123217	71123217	Human	1	name
407504551	CV3495936	single nucleotide variant	NM_005120.3(MED12):c.101A>G (p.Asp34Gly)	not provided [RCV004697776]	uncertain significance	X	71119374	71119374	Human		name
408365377	CV3499849	single nucleotide variant	NM_005120.3(MED12):c.271C>T (p.Arg91Cys)	not provided [RCV004721891]	uncertain significance	X	71119752	71119752	Human		name
596931393	CV3531729	single nucleotide variant	NM_005120.3(MED12):c.253A>T (p.Thr85Ser)	not provided [RCV004781291]	uncertain significance	X	71119734	71119734	Human		name
596921622	CV3535244	single nucleotide variant	NM_005120.3(MED12):c.233C>T (p.Ala78Val)	not provided [RCV004784803]	uncertain significance	X	71119714	71119714	Human		name
596922810	CV3537411	single nucleotide variant	NM_005120.3(MED12):c.2808C>T (p.Cys936=)	not provided [RCV004787381]	uncertain significance	X	71127091	71127091	Human		name
597633337	CV3559998	single nucleotide variant	NM_005120.3(MED12):c.1923C>T (p.Ala641=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823814]	likely benign	X	71124337	71124337	Human	1	name
597633354	CV3560006	single nucleotide variant	NM_005120.3(MED12):c.230T>C (p.Ile77Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823820]	uncertain significance	X	71119711	71119711	Human	1	name
597633367	CV3560011	single nucleotide variant	NM_005120.3(MED12):c.1842T>C (p.Tyr614=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823825]	likely benign	X	71124256	71124256	Human	1	name
597633376	CV3560015	single nucleotide variant	NM_005120.3(MED12):c.1851T>C (p.Thr617=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823828]	likely benign	X	71124265	71124265	Human	1	name
597633385	CV3560018	single nucleotide variant	NM_005120.3(MED12):c.266C>T (p.Thr89Ile)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823831]	uncertain significance	X	71119747	71119747	Human	1	name
597633389	CV3560020	single nucleotide variant	NM_005120.3(MED12):c.2355A>G (p.Lys785=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823833]	likely benign	X	71125479	71125479	Human	1	name
597633408	CV3560027	single nucleotide variant	NM_005120.3(MED12):c.2526C>T (p.His842=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823839]	likely benign	X	71126139	71126139	Human	1	name
597633422	CV3560033	single nucleotide variant	NM_005120.3(MED12):c.1032T>A (p.Thr344=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823844]	likely benign	X	71121747	71121747	Human	1	name
597633436	CV3560038	single nucleotide variant	NM_005120.3(MED12):c.2109G>A (p.Lys703=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823849]	likely benign	X	71125029	71125029	Human	1	name
597633457	CV3560047	single nucleotide variant	NM_005120.3(MED12):c.1917T>C (p.Asp639=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823857]	likely benign	X	71124331	71124331	Human	1	name
597633460	CV3560050	single nucleotide variant	NM_005120.3(MED12):c.1878T>C (p.Phe626=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823858]	likely benign	X	71124292	71124292	Human	1	name
597633463	CV3560051	single nucleotide variant	NM_005120.3(MED12):c.1920T>A (p.Pro640=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004823859]	likely benign	X	71124334	71124334	Human	1	name
597830802	CV3743342	single nucleotide variant	NM_005120.3(MED12):c.2511A>C (p.Ser837=)	FG syndrome [RCV005062350]	likely benign	X	71126124	71126124	Human	1	name
597942520	CV3757817	single nucleotide variant	NM_005120.3(MED12):c.1419C>T (p.Phe473=)	FG syndrome [RCV005077816]	likely benign	X	71122808	71122808	Human	1	name
597867227	CV3764062	single nucleotide variant	NM_005120.3(MED12):c.2706A>G (p.Val902=)	FG syndrome [RCV005107059]	likely benign	X	71126989	71126989	Human	1	name
597896904	CV3773828	single nucleotide variant	NM_005120.3(MED12):c.158G>A (p.Gly53Glu)	FG syndrome [RCV005111549]	uncertain significance	X	71119431	71119431	Human	1	name
597896910	CV3773829	single nucleotide variant	NM_005120.3(MED12):c.170G>A (p.Gly57Asp)	FG syndrome [RCV005111550]	uncertain significance	X	71119443	71119443	Human	1	name
597953507	CV3776429	single nucleotide variant	NM_005120.3(MED12):c.2268A>G (p.Val756=)	FG syndrome [RCV005121557]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005379723]	likely benign	X	71125392	71125392	Human	2	name
597920691	CV3781290	single nucleotide variant	NM_005120.3(MED12):c.2781G>A (p.Val927=)	FG syndrome [RCV005130172]	likely benign	X	71127064	71127064	Human	1	name
12834229	CV378548	single nucleotide variant	NM_005120.3(MED12):c.272G>T (p.Arg91Leu)	Blepharophimosis - intellectual disability syndrome, MKB type [RCV003223406]\|FG syndrome [RCV003766456]\|not provided [RCV000420005]	uncertain significance	X	71119753	71119753	Human	2	name
597938962	CV3788392	single nucleotide variant	NM_005120.3(MED12):c.2766G>A (p.Leu922=)	FG syndrome [RCV005133067]	likely benign	X	71127049	71127049	Human	1	name
12841554	CV379377	single nucleotide variant	NM_005120.3(MED12):c.1167G>A (p.Lys389=)	FG syndrome [RCV003761975]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004022294]\|not provided [RCV001729579]\|not specified [RCV000432789]	benign\|likely benign	X	71122265	71122265	Human	2	name
12841691	CV379511	single nucleotide variant	NM_005120.3(MED12):c.1602G>A (p.Ala534=)	FG syndrome [RCV003762725]\|not provided [RCV001721381]	likely benign	X	71123211	71123211	Human	1	name
597906673	CV3804087	single nucleotide variant	NM_005120.3(MED12):c.1815A>G (p.Arg605=)	FG syndrome [RCV005153633]	likely benign	X	71124229	71124229	Human	1	name
597863797	CV3814084	single nucleotide variant	NM_005120.3(MED12):c.1083C>T (p.Gly361=)	FG syndrome [RCV005147153]	likely benign	X	71121798	71121798	Human	1	name
597960249	CV3815514	single nucleotide variant	NM_005120.3(MED12):c.2223C>T (p.Pro741=)	FG syndrome [RCV005163447]	likely benign	X	71125143	71125143	Human	1	name
597840190	CV3825275	single nucleotide variant	NM_005120.3(MED12):c.2337G>A (p.Leu779=)	FG syndrome [RCV005171958]	likely benign	X	71125461	71125461	Human	1	name
597900681	CV3835410	single nucleotide variant	NM_005120.3(MED12):c.1623T>C (p.Cys541=)	FG syndrome [RCV005181133]	likely benign	X	71123599	71123599	Human	1	name
597944272	CV3847844	single nucleotide variant	NM_005120.3(MED12):c.2145G>A (p.Lys715=)	FG syndrome [RCV005188573]	likely benign	X	71125065	71125065	Human	1	name
597884999	CV3854753	single nucleotide variant	NM_005120.3(MED12):c.1947T>C (p.Ala649=)	FG syndrome [RCV005199598]	likely benign	X	71124361	71124361	Human	1	name
597895114	CV3857285	single nucleotide variant	NM_005120.3(MED12):c.1146A>G (p.Ser382=)	FG syndrome [RCV005201149]	likely benign	X	71122244	71122244	Human	1	name
597930007	CV3862182	single nucleotide variant	NM_005120.3(MED12):c.196C>A (p.Pro66Thr)	FG syndrome [RCV005206423]	uncertain significance	X	71119469	71119469	Human	1	name
598123258	CV3885094	single nucleotide variant	NM_005120.3(MED12):c.2142C>T (p.Pro714=)	not specified [RCV005238706]	likely benign	X	71125062	71125062	Human		name
598238803	CV3893295	single nucleotide variant	NM_005120.3(MED12):c.113C>G (p.Ala38Gly)	not provided [RCV005256028]	uncertain significance	X	71119386	71119386	Human		name
598224868	CV3989171	single nucleotide variant	NM_005120.3(MED12):c.2826C>T (p.Asp942=)	Familial thoracic aortic aneurysm and aortic dissection [RCV005380291]	likely benign	X	71127109	71127109	Human	1	name
12889155	CV404582	single nucleotide variant	NM_005120.3(MED12):c.2169G>A (p.Gly723=)	FG syndrome [RCV005090920]	likely benign	X	71125089	71125089	Human	1	name
12888627	CV404586	single nucleotide variant	NM_005120.3(MED12):c.1140C>T (p.His380=)	FG syndrome [RCV003762741]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313211]\|not provided [RCV001090306]	benign\|likely benign	X	71122238	71122238	Human	2	name
12881639	CV404589	single nucleotide variant	NM_005120.3(MED12):c.2895C>T (p.Ser965=)	FG syndrome [RCV005208761]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002436496]\|not provided [RCV000458188]	likely benign	X	71127381	71127381	Human	2	name
13499857	CV471682	single nucleotide variant	NM_005120.3(MED12):c.1332C>T (p.Cys444=)	FG syndrome [RCV005091263]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003302787]\|not provided [RCV000534554]	benign\|likely benign	X	71122591	71122591	Human	2	name
13497974	CV471966	single nucleotide variant	NM_005120.3(MED12):c.1269G>A (p.Glu423=)	FG syndrome [RCV003596020]	likely benign	X	71122528	71122528	Human	1	name
13466546	CV472191	single nucleotide variant	NM_005120.3(MED12):c.1671C>T (p.Ser557=)	FG syndrome [RCV003762765]	likely benign	X	71123647	71123647	Human	1	name
13519930	CV490092	single nucleotide variant	NM_005120.3(MED12):c.2613G>A (p.Gln871=)	FG syndrome [RCV003596049]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315888]\|MED12-related disorder [RCV003985382]\|not provided [RCV000726879]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71126412	71126412	Human	2	name , alternate_id
13531910	CV508370	single nucleotide variant	NM_005120.3(MED12):c.1344T>G (p.Thr448=)	FG syndrome [RCV003762821]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003372770]\|not provided [RCV001698093]	likely benign	X	71122603	71122603	Human	2	name
13536124	CV508375	single nucleotide variant	NM_005120.3(MED12):c.2748C>A (p.Gly916=)	FG syndrome [RCV003762826]\|not specified [RCV000608542]	benign\|likely benign	X	71127031	71127031	Human	1	name
13530357	CV508626	single nucleotide variant	NM_005120.3(MED12):c.1066C>A (p.Arg356=)	FG syndrome [RCV003767633]\|not provided [RCV001697911]	likely benign\|uncertain significance	X	71121781	71121781	Human	1	name
13538754	CV508629	single nucleotide variant	NM_005120.3(MED12):c.1659C>T (p.Ile553=)	FG syndrome [RCV003762814]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002404622]\|not provided [RCV001722574]	likely benign	X	71123635	71123635	Human	2	name
13540118	CV508631	single nucleotide variant	NM_005120.3(MED12):c.1929C>T (p.Asp643=)	FG syndrome [RCV005091646]\|not provided [RCV001707790]	likely benign	X	71124343	71124343	Human	1	name
13529311	CV510962	single nucleotide variant	NM_005120.3(MED12):c.184G>A (p.Val62Ile)	Cholestasis-pigmentary retinopathy-cleft palate syndrome [RCV003139947]\|FG syndrome [RCV003762837]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313381]	uncertain significance	X	71119457	71119457	Human	3	name
13535002	CV510965	single nucleotide variant	NM_005120.3(MED12):c.1290G>A (p.Glu430=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002313380]	likely benign	X	71122549	71122549	Human	1	name
13528767	CV510966	single nucleotide variant	NM_005120.3(MED12):c.2118C>T (p.Val706=)	FG syndrome [RCV003596073]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313388]\|not provided [RCV003437331]	likely benign	X	71125038	71125038	Human	2	name
13616693	CV534913	single nucleotide variant	NM_005120.3(MED12):c.2571G>C (p.Thr857=)	FG syndrome [RCV003596081]	likely benign	X	71126370	71126370	Human	1	name
13616706	CV534948	single nucleotide variant	NM_005120.3(MED12):c.1956C>T (p.Ser652=)	FG syndrome [RCV003767849]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002420698]	benign\|likely benign	X	71124370	71124370	Human	2	name
13616704	CV534949	single nucleotide variant	NM_005120.3(MED12):c.2136C>T (p.Pro712=)	FG syndrome [RCV003596082]\|not provided [RCV003437344]	likely benign	X	71125056	71125056	Human	1	name
13830077	CV581180	single nucleotide variant	NM_005120.3(MED12):c.1203G>A (p.Pro401=)	FG syndrome [RCV003768148]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002316691]\|not provided [RCV001551311]	benign\|likely benign	X	71122301	71122301	Human	2	name
13830382	CV581182	single nucleotide variant	NM_005120.3(MED12):c.2271G>A (p.Leu757=)	FG syndrome [RCV003762866]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002317503]\|not provided [RCV001615045]	benign\|likely benign	X	71125395	71125395	Human	2	name
13830179	CV581183	single nucleotide variant	NM_005120.3(MED12):c.2571G>A (p.Thr857=)	FG syndrome [RCV003768151]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002316795]	benign\|likely benign	X	71126370	71126370	Human	2	name
13833709	CV584947	single nucleotide variant	NM_005120.3(MED12):c.1416C>T (p.Asp472=)	FG syndrome [RCV003596545]\|not provided [RCV000729051]	likely benign\|uncertain significance	X	71122805	71122805	Human	1	name
14710444	CV650173	single nucleotide variant	NM_005120.3(MED12):c.281C>T (p.Pro94Leu)	FG syndrome [RCV003596566]	uncertain significance	X	71119762	71119762	Human	1	name
14742245	CV656791	single nucleotide variant	NM_005120.3(MED12):c.1113G>A (p.Leu371=)	FG syndrome [RCV003762900]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005372468]\|not provided [RCV000841240]	benign\|likely benign	X	71122211	71122211	Human	2	name
15120566	CV685027	single nucleotide variant	NM_005120.3(MED12):c.2286G>A (p.Lys762=)	FG syndrome [RCV005056629]	likely benign	X	71125410	71125410	Human	1	name
15125265	CV685028	single nucleotide variant	NM_005120.3(MED12):c.2670C>T (p.Ile890=)	FG syndrome [RCV005208931]\|not specified [RCV005418371]	likely benign	X	71126469	71126469	Human	1	name
15150209	CV689539	single nucleotide variant	NM_005120.3(MED12):c.1170C>T (p.Thr390=)	FG syndrome [RCV005208932]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005367603]	benign\|likely benign	X	71122268	71122268	Human	2	name
15157761	CV689540	single nucleotide variant	NM_005120.3(MED12):c.1599G>A (p.Gln533=)	FG syndrome [RCV003596636]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002399916]\|not provided [RCV000868508]	likely benign	X	71123208	71123208	Human	2	name
15158022	CV689541	single nucleotide variant	NM_005120.3(MED12):c.1923C>G (p.Ala641=)	FG syndrome [RCV005092582]	likely benign	X	71124337	71124337	Human	1	name
15099552	CV689542	single nucleotide variant	NM_005120.3(MED12):c.2862C>T (p.Val954=)	FG syndrome [RCV003762906]	likely benign	X	71127348	71127348	Human	1	name
15157726	CV689543	single nucleotide variant	NM_005120.3(MED12):c.2937C>T (p.Tyr979=)	FG syndrome [RCV005092581]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004027728]	likely benign\|uncertain significance	X	71127423	71127423	Human	2	name
15130564	CV694918	single nucleotide variant	NM_005120.3(MED12):c.1323C>T (p.Phe441=)	FG syndrome [RCV003768711]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002382004]	likely benign	X	71122582	71122582	Human	2	name
15122022	CV694919	single nucleotide variant	NM_005120.3(MED12):c.1476T>C (p.Asp492=)	FG syndrome [RCV003768683]	likely benign	X	71122865	71122865	Human	1	name
15130425	CV694921	single nucleotide variant	NM_005120.3(MED12):c.2265C>T (p.Val755=)	FG syndrome [RCV003768708]\|MED12-related disorder [RCV004738042]	benign\|likely benign	X	71125389	71125389	Human	1	name , alternate_id
15126933	CV694923	single nucleotide variant	NM_005120.3(MED12):c.2698C>T (p.Leu900=)	FG syndrome [RCV003768695]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002427204]	likely benign	X	71126981	71126981	Human	2	name
15148664	CV758633	single nucleotide variant	NM_005120.3(MED12):c.1098A>G (p.Leu366=)	FG syndrome [RCV003596706]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002445028]\|MED12-related disorder [RCV003985458]	likely benign	X	71121813	71121813	Human	2	name , alternate_id
15164046	CV758634	single nucleotide variant	NM_005120.3(MED12):c.1545G>A (p.Lys515=)	FG syndrome [RCV005092785]	likely benign	X	71123154	71123154	Human	1	name
15140561	CV774190	single nucleotide variant	NM_005120.3(MED12):c.2395C>T (p.Leu799=)	FG syndrome [RCV005208809]	likely benign	X	71125686	71125686	Human	1	name
15110877	CV774191	single nucleotide variant	NM_005120.3(MED12):c.2535G>A (p.Thr845=)	FG syndrome [RCV003595635]	likely benign	X	71126148	71126148	Human	1	name
15128026	CV786900	single nucleotide variant	NM_005120.3(MED12):c.1662C>T (p.Ala554=)	FG syndrome [RCV005092948]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003307778]	likely benign	X	71123638	71123638	Human	2	name
15117763	CV786901	single nucleotide variant	NM_005120.3(MED12):c.2871T>C (p.His957=)	FG syndrome [RCV003762932]	likely benign	X	71127357	71127357	Human	1	name
21073742	CV792495	single nucleotide variant	NM_005120.3(MED12):c.224G>C (p.Ser75Thr)	FG syndrome 1 [RCV000990861]	likely pathogenic	X	71119705	71119705	Human	1	name
8639142	CV97591	single nucleotide variant	NM_005120.3(MED12):c.107T>G (p.Leu36Arg)	Uterine leiomyoma [RCV000077820]	not provided	X	71119380	71119380	Human		name
8639155	CV97604	single nucleotide variant	NM_005120.3(MED12):c.128A>C (p.Gln43Pro)	Uterine leiomyoma [RCV000077833]	not provided	X	71119401	71119401	Human		name
8639158	CV97607	single nucleotide variant	NM_005120.3(MED12):c.130G>A (p.Gly44Ser)	Angiosarcoma [RCV000505562]\|Uterine leiomyoma [RCV000077836]	other\|not provided	X	71119403	71119403	Human	4	name
8639159	CV97608	single nucleotide variant	NM_005120.3(MED12):c.130G>C (p.Gly44Arg)	Uterine leiomyoma [RCV000077837]	not provided	X	71119403	71119403	Human		name
8639160	CV97609	single nucleotide variant	NM_005120.3(MED12):c.130G>T (p.Gly44Cys)	Uterine leiomyoma [RCV000077838]	not provided	X	71119403	71119403	Human		name
8639161	CV97610	single nucleotide variant	NM_005120.3(MED12):c.131G>A (p.Gly44Asp)	Nephroblastoma [RCV000505615]\|Uterine leiomyoma [RCV000077839]	other\|not provided	X	71119404	71119404	Human	4	name
8639162	CV97611	single nucleotide variant	NM_005120.3(MED12):c.131G>C (p.Gly44Ala)	Uterine leiomyoma [RCV000077840]	not provided	X	71119404	71119404	Human		name
8639163	CV97612	single nucleotide variant	NM_005120.3(MED12):c.131G>T (p.Gly44Val)	Uterine leiomyoma [RCV000077841]	not provided	X	71119404	71119404	Human		name
126767870	CV1015048	single nucleotide variant	NM_005120.3(MED12):c.320C>T (p.Ala107Val)	FG syndrome [RCV003770734]	uncertain significance	X	71119801	71119801	Human	1	name
126760647	CV1015049	single nucleotide variant	NM_005120.3(MED12):c.617G>A (p.Arg206Gln)	FG syndrome 1 [RCV001318398]\|FG syndrome [RCV003595746]\|X-linked intellectual disability with marfanoid habitus [RCV004671335]	likely pathogenic\|uncertain significance\|not provided	X	71121034	71121034	Human	3	name
126769237	CV1015050	single nucleotide variant	NM_005120.3(MED12):c.958A>G (p.Ile320Val)	FG syndrome [RCV003763956]	benign\|uncertain significance	X	71121673	71121673	Human	1	name
126917677	CV1052525	single nucleotide variant	NM_005120.3(MED12):c.658G>C (p.Gly220Arg)	FG syndrome [RCV003771073]	uncertain significance	X	71121075	71121075	Human	1	name
127240950	CV1086819	single nucleotide variant	NM_005120.3(MED12):c.3333C>T (p.Asn1111=)	FG syndrome [RCV003761226]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002322384]	likely benign	X	71128419	71128419	Human	2	name
127235061	CV1086820	single nucleotide variant	NM_005120.3(MED12):c.3408C>T (p.Ile1136=)	FG syndrome [RCV003595763]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004639614]	likely benign	X	71128651	71128651	Human	2	name
127239084	CV1086821	single nucleotide variant	NM_005120.3(MED12):c.4260A>G (p.Leu1420=)	FG syndrome [RCV003595765]	likely benign	X	71132383	71132383	Human	1	name
127248172	CV1086822	single nucleotide variant	NM_005120.3(MED12):c.4290C>T (p.Pro1430=)	FG syndrome [RCV003771277]	likely benign	X	71132413	71132413	Human	1	name
127253457	CV1086823	single nucleotide variant	NM_005120.3(MED12):c.4761C>T (p.Ser1587=)	FG syndrome [RCV003761229]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002341860]	likely benign	X	71134746	71134746	Human	2	name
127242088	CV1086826	single nucleotide variant	NM_005120.3(MED12):c.5760C>T (p.Gly1920=)	FG syndrome [RCV003761256]	likely benign	X	71137569	71137569	Human	1	name
127270529	CV1086827	single nucleotide variant	NM_005120.3(MED12):c.6195G>A (p.Gln2065=)	FG syndrome [RCV003761238]	likely benign	X	71140785	71140785	Human	1	name
127238981	CV1086828	single nucleotide variant	NM_005120.3(MED12):c.6312G>A (p.Gln2104=)	FG syndrome [RCV003595779]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002358925]	likely benign	X	71141274	71141274	Human	2	name
127280584	CV1086829	single nucleotide variant	NM_005120.3(MED12):c.6360G>A (p.Gln2120=)	FG syndrome [RCV003761243]	likely benign	X	71141322	71141322	Human	1	name
127275808	CV1108526	single nucleotide variant	NM_005120.3(MED12):c.3192G>A (p.Gly1064=)	FG syndrome [RCV003761274]	likely benign	X	71128103	71128103	Human	1	name
127234903	CV1108527	single nucleotide variant	NM_005120.3(MED12):c.4245T>C (p.Pro1415=)	FG syndrome [RCV003761276]	likely benign	X	71132198	71132198	Human	1	name
127276444	CV1108528	single nucleotide variant	NM_005120.3(MED12):c.4980C>T (p.Thr1660=)	FG syndrome [RCV003761288]	likely benign	X	71135208	71135208	Human	1	name
127263906	CV1108529	single nucleotide variant	NM_005120.3(MED12):c.5268G>T (p.Leu1756=)	FG syndrome [RCV003761271]	likely benign	X	71136523	71136523	Human	1	name
127283113	CV1108530	single nucleotide variant	NM_005120.3(MED12):c.5469C>T (p.His1823=)	FG syndrome [RCV003771418]	likely benign	X	71136947	71136947	Human	1	name
127252487	CV1108531	single nucleotide variant	NM_005120.3(MED12):c.5670C>T (p.Pro1890=)	FG syndrome [RCV003761267]	likely benign	X	71137305	71137305	Human	1	name
127332641	CV1129907	single nucleotide variant	NM_005120.3(MED12):c.3480T>C (p.Cys1160=)	FG syndrome [RCV003771466]\|not provided [RCV001732187]	likely benign	X	71129118	71129118	Human	1	name
127304824	CV1129908	single nucleotide variant	NM_005120.3(MED12):c.4584T>C (p.Leu1528=)	FG syndrome [RCV003761311]	likely benign	X	71133179	71133179	Human	1	name
127297521	CV1129911	single nucleotide variant	NM_005120.3(MED12):c.6399C>G (p.Ser2133=)	FG syndrome [RCV003595809]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003160934]	likely benign	X	71141361	71141361	Human	2	name
127310390	CV1150925	single nucleotide variant	NM_005120.3(MED12):c.3069C>A (p.Ile1023=)	FG syndrome [RCV003761347]	likely benign	X	71127980	71127980	Human	1	name
127295345	CV1150926	single nucleotide variant	NM_005120.3(MED12):c.3069C>T (p.Ile1023=)	FG syndrome [RCV003761369]	likely benign	X	71127980	71127980	Human	1	name
127327797	CV1150928	single nucleotide variant	NM_005120.3(MED12):c.4044C>T (p.Leu1348=)	FG syndrome [RCV003761358]	likely benign	X	71130211	71130211	Human	1	name
127292937	CV1150930	single nucleotide variant	NM_005120.3(MED12):c.4929G>A (p.Lys1643=)	FG syndrome [RCV003771519]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003339654]	likely benign	X	71135157	71135157	Human	2	name
127327191	CV1150931	single nucleotide variant	NM_005120.3(MED12):c.5613A>C (p.Arg1871=)	FG syndrome [RCV003595815]	likely benign	X	71137248	71137248	Human	1	name
127330794	CV1150932	single nucleotide variant	NM_005120.3(MED12):c.5652C>T (p.Gly1884=)	FG syndrome [RCV003771501]	likely benign	X	71137287	71137287	Human	1	name
127334513	CV1150933	single nucleotide variant	NM_005120.3(MED12):c.5679T>C (p.Tyr1893=)	FG syndrome [RCV003761366]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003284349]	likely benign	X	71137314	71137314	Human	2	name
127332630	CV1150935	single nucleotide variant	NM_005120.3(MED12):c.6183A>G (p.Gln2061=)	FG syndrome [RCV003761363]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003298864]	likely benign	X	71140773	71140773	Human	2	name
127302848	CV1159815	single nucleotide variant	NM_005120.3(MED12):c.3111G>A (p.Thr1037=)	FG syndrome [RCV003761381]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004641667]\|not provided [RCV001581167]	benign\|likely benign	X	71128022	71128022	Human	2	name
127291021	CV1159816	single nucleotide variant	NM_005120.3(MED12):c.3381G>T (p.Ser1127=)	FG syndrome [RCV003771562]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002458495]\|MED12-related disorder [RCV003985504]	benign\|likely benign	X	71128624	71128624	Human	2	name , alternate_id
127290770	CV1159817	single nucleotide variant	NM_005120.3(MED12):c.4359G>A (p.Lys1453=)	FG syndrome [RCV003595828]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002329649]\|MED12-related disorder [RCV003985503]	benign\|likely benign	X	71132482	71132482	Human	2	name , alternate_id
127311637	CV1159818	single nucleotide variant	NM_005120.3(MED12):c.4806G>A (p.Ser1602=)	FG syndrome [RCV003771567]	benign	X	71134791	71134791	Human	1	name
10051911	CV194065	single nucleotide variant	NM_005120.3(MED12):c.4620G>A (p.Val1540=)	FG syndrome [RCV005089891]\|not provided [RCV000177790]	likely benign\|uncertain significance	X	71134359	71134359	Human	1	name
10052325	CV194647	single nucleotide variant	NM_005120.3(MED12):c.6285A>G (p.Gln2095=)	FG syndrome [RCV003761805]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314646]\|not provided [RCV000178534]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71141247	71141247	Human	2	name
10052515	CV194931	single nucleotide variant	NM_005120.3(MED12):c.653C>T (p.Thr218Met)	FG syndrome [RCV005208744]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311030]\|MED12-related disorder [RCV003985289]\|not provided [RCV000178900]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71121070	71121070	Human	2	name , alternate_id
10409076	CV209160	single nucleotide variant	NM_005120.3(MED12):c.4179A>C (p.Ser1393=)	FG syndrome [RCV003765228]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004020325]\|MED12-related disorder [RCV003985300]\|not provided [RCV000466649]\|not specified [RCV000194870]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71132132	71132132	Human	2	name , alternate_id
10403502	CV209161	single nucleotide variant	NM_005120.3(MED12):c.4488C>T (p.Arg1496=)	FG syndrome [RCV003761812]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314833]\|MED12-related disorder [RCV003985301]\|not provided [RCV001721258]\|not specified [RCV000192683]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71132917	71132917	Human	2	name , alternate_id
10403979	CV209162	single nucleotide variant	NM_005120.3(MED12):c.5418G>A (p.Pro1806=)	FG syndrome [RCV003765229]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004020326]\|not provided [RCV001560061]\|not specified [RCV000193892]	benign\|likely benign\|uncertain significance	X	71136896	71136896	Human	2	name
10403972	CV209164	single nucleotide variant	NM_005120.3(MED12):c.6339A>G (p.Gln2113=)	not specified [RCV000193874]	uncertain significance	X	71141301	71141301	Human		name
11348148	CV243819	single nucleotide variant	NM_005120.3(MED12):c.380C>T (p.Thr127Met)	FG syndrome [RCV005090177]	benign	X	71119861	71119861	Human	1	name
11548651	CV259193	single nucleotide variant	NM_005120.3(MED12):c.4650C>T (p.Ser1550=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002311097]	likely benign	X	71134389	71134389	Human	1	name
11544058	CV259196	single nucleotide variant	NM_005120.3(MED12):c.6168A>G (p.Gln2056=)	FG syndrome [RCV003595903]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311218]	likely benign	X	71140758	71140758	Human	2	name
11552132	CV259200	single nucleotide variant	NM_005120.3(MED12):c.6201A>G (p.Gln2067=)	FG syndrome [RCV003761881]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310929]\|not provided [RCV001705392]\|not specified [RCV001820795]	benign\|likely benign	X	71140791	71140791	Human	2	name
12840369	CV378579	single nucleotide variant	NM_005120.3(MED12):c.3699G>A (p.Ala1233=)	FG syndrome [RCV003761986]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002356549]\|MED12-related disorder [RCV003985333]\|not provided [RCV001712225]	benign\|likely benign	X	71129687	71129687	Human	2	name , alternate_id
12846701	CV378591	single nucleotide variant	NM_005120.3(MED12):c.3801C>T (p.Asn1267=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004639234]\|not specified [RCV000442143]	likely benign	X	71129789	71129789	Human	1	name
12838876	CV378595	single nucleotide variant	NM_005120.3(MED12):c.3942T>C (p.Ser1314=)	FG syndrome [RCV003761998]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313104]\|X-linked intellectual disability with marfanoid habitus [RCV002502559]\|not provided [RCV001698212]	benign\|likely benign	X	71130109	71130109	Human	6	name
12842674	CV378596	single nucleotide variant	NM_005120.3(MED12):c.4665G>A (p.Thr1555=)	FG syndrome [RCV003595968]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002339015]\|not provided [RCV001703721]	benign\|likely benign	X	71134404	71134404	Human	2	name
12847663	CV378602	single nucleotide variant	NM_005120.3(MED12):c.4851G>A (p.Ala1617=)	FG syndrome [RCV003766306]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002339048]\|not provided [RCV001704271]	benign\|likely benign	X	71134836	71134836	Human	2	name
12838031	CV379390	single nucleotide variant	NM_005120.3(MED12):c.3843C>T (p.Tyr1281=)	FG syndrome [RCV003761976]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002365470]\|not specified [RCV000426230]	likely benign	X	71129831	71129831	Human	2	name
12835442	CV379392	single nucleotide variant	NM_005120.3(MED12):c.4470A>G (p.Lys1490=)	FG syndrome [RCV003761999]\|not specified [RCV000421669]	likely benign	X	71132899	71132899	Human	1	name
12836126	CV379404	single nucleotide variant	NM_005120.3(MED12):c.5190G>C (p.Leu1730=)	FG syndrome [RCV003766334]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002339060]\|not provided [RCV001704398]	benign\|likely benign	X	71136445	71136445	Human	2	name
12847033	CV379518	single nucleotide variant	NM_005120.3(MED12):c.3412C>A (p.Arg1138=)	FG syndrome [RCV003762730]\|not specified [RCV000442770]	likely benign\|uncertain significance	X	71128655	71128655	Human	1	name
12836659	CV379519	single nucleotide variant	NM_005120.3(MED12):c.4299T>C (p.Ala1433=)	FG syndrome [RCV003595980]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002328986]\|not specified [RCV000423797]	benign\|likely benign	X	71132422	71132422	Human	2	name
12835681	CV379520	single nucleotide variant	NM_005120.3(MED12):c.4950G>A (p.Thr1650=)	FG syndrome [RCV003595977]\|not provided [RCV001704475]	benign\|likely benign	X	71135178	71135178	Human	1	name
12845383	CV379521	single nucleotide variant	NM_005120.3(MED12):c.4974C>T (p.Ile1658=)	FG syndrome [RCV003761996]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002339052]\|MED12-related disorder [RCV003985340]\|not provided [RCV004703967]\|not specified [RCV000439708]	likely benign	X	71135202	71135202	Human	2	name , alternate_id
12833849	CV379522	single nucleotide variant	NM_005120.3(MED12):c.5775A>G (p.Ser1925=)	FG syndrome [RCV003761983]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002356537]\|not provided [RCV001703560]	benign\|likely benign	X	71137584	71137584	Human	2	name
12841671	CV380111	single nucleotide variant	NM_005120.3(MED12):c.3516C>G (p.Thr1172=)	FG syndrome [RCV003595971]\|not specified [RCV000432991]	likely benign	X	71129154	71129154	Human	1	name
12834634	CV380112	single nucleotide variant	NM_005120.3(MED12):c.5805C>T (p.Ser1935=)	FG syndrome [RCV003595984]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313140]\|X-linked intellectual disability with marfanoid habitus [RCV002502582]\|not provided [RCV001698391]	benign\|likely benign	X	71137614	71137614	Human	6	name
12840642	CV380114	single nucleotide variant	NM_005120.3(MED12):c.6072A>T (p.Thr2024=)	FG syndrome [RCV003595969]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002356554]\|not specified [RCV000431103]	benign\|likely benign	X	71140662	71140662	Human	2	name
12883621	CV404283	single nucleotide variant	NM_005120.3(MED12):c.3849G>T (p.Leu1283=)	FG syndrome [RCV005056040]	likely benign	X	71129837	71129837	Human	1	name
12885532	CV404287	single nucleotide variant	NM_005120.3(MED12):c.5427C>T (p.Ser1809=)	FG syndrome [RCV005090919]	likely benign	X	71136905	71136905	Human	1	name
12883636	CV404585	single nucleotide variant	NM_005120.3(MED12):c.3063C>T (p.Phe1021=)	FG syndrome [RCV003762740]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002446883]	likely benign	X	71127974	71127974	Human	2	name
12892003	CV404591	single nucleotide variant	NM_005120.3(MED12):c.3582G>A (p.Lys1194=)	FG syndrome [RCV003766630]	likely benign	X	71129320	71129320	Human	1	name
12888960	CV404592	single nucleotide variant	NM_005120.3(MED12):c.5616A>G (p.Pro1872=)	FG syndrome [RCV003762743]	likely benign	X	71137251	71137251	Human	1	name
12894497	CV411463	duplication	NM_005120.3(MED12):c.1273dup (p.Glu425fs)	not provided [RCV000483034]	likely pathogenic	X	71122531	71122532	Human		name
13487356	CV446744	single nucleotide variant	NM_005120.3(MED12):c.845G>A (p.Arg282Gln)	not provided [RCV001696831]	likely benign\|uncertain significance	X	71121436	71121436	Human		name
13500209	CV470946	single nucleotide variant	NM_005120.3(MED12):c.616C>G (p.Arg206Gly)	FG syndrome [RCV003762770]\|X-linked intellectual disability with marfanoid habitus [RCV003330756]	uncertain significance\|not provided	X	71121033	71121033	Human	3	name
13501139	CV470969	single nucleotide variant	NM_005120.3(MED12):c.6324G>A (p.Gln2108=)	FG syndrome [RCV003596029]\|not provided [RCV005426122]	likely benign	X	71141286	71141286	Human	1	name
13498569	CV471692	single nucleotide variant	NM_005120.3(MED12):c.4806G>T (p.Ser1602=)	FG syndrome [RCV003596023]	likely benign	X	71134791	71134791	Human	1	name
13500617	CV471698	single nucleotide variant	NM_005120.3(MED12):c.6300G>A (p.Gln2100=)	FG syndrome [RCV003762773]	likely benign	X	71141262	71141262	Human	1	name
13498033	CV471699	single nucleotide variant	NM_005120.3(MED12):c.6321G>A (p.Gln2107=)	FG syndrome [RCV003596028]\|not provided [RCV005426121]	likely benign	X	71141283	71141283	Human	1	name
13501325	CV471705	single nucleotide variant	NM_005120.3(MED12):c.6351G>A (p.Gln2117=)	FG syndrome [RCV003596031]\|not provided [RCV005426123]	likely benign	X	71141313	71141313	Human	1	name
13467202	CV471969	single nucleotide variant	NM_005120.3(MED12):c.4425A>G (p.Leu1475=)	FG syndrome [RCV003762767]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002330842]\|MED12-related disorder [RCV003985377]\|not provided [RCV001653890]	benign\|likely benign	X	71132854	71132854	Human	2	name , alternate_id
13497693	CV471972	single nucleotide variant	NM_005120.3(MED12):c.6297G>A (p.Gln2099=)	FG syndrome [RCV003596025]\|not provided [RCV001547198]	likely benign	X	71141259	71141259	Human	1	name
13466734	CV471973	single nucleotide variant	NM_005120.3(MED12):c.6327G>A (p.Gln2109=)	FG syndrome [RCV003596030]	likely benign	X	71141289	71141289	Human	1	name
13468972	CV472193	single nucleotide variant	NM_005120.3(MED12):c.6273G>A (p.Gln2091=)	FG syndrome [RCV003762771]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003159762]\|not provided [RCV005426118]	likely benign	X	71141235	71141235	Human	2	name
13500434	CV472194	single nucleotide variant	NM_005120.3(MED12):c.6291G>A (p.Gln2097=)	FG syndrome [RCV003596024]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003302788]\|MED12-related disorder [RCV003985378]\|not provided [RCV005426119]	likely benign	X	71141253	71141253	Human	2	name , alternate_id
13499356	CV472197	single nucleotide variant	NM_005120.3(MED12):c.6333G>A (p.Gln2111=)	FG syndrome [RCV003762774]	likely benign	X	71141295	71141295	Human	1	name
13523863	CV490095	single nucleotide variant	NM_005120.3(MED12):c.3219C>T (p.Asp1073=)	FG syndrome [RCV003596050]\|not provided [RCV000593530]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71128305	71128305	Human	1	name
13541711	CV508225	single nucleotide variant	NM_005120.3(MED12):c.6279A>G (p.Gln2093=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003278946]\|not specified [RCV000616536]	likely benign	X	71141241	71141241	Human	1	name
13526192	CV508385	single nucleotide variant	NM_005120.3(MED12):c.5088G>A (p.Pro1696=)	FG syndrome [RCV003767650]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004024967]\|not specified [RCV000603797]	likely benign	X	71136343	71136343	Human	2	name
13533562	CV508389	single nucleotide variant	NM_005120.3(MED12):c.5103T>C (p.Ser1701=)	FG syndrome [RCV003762817]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315920]\|not provided [RCV003437313]\|not specified [RCV000610532]	benign\|likely benign	X	71136358	71136358	Human	2	name
13541629	CV508635	single nucleotide variant	NM_005120.3(MED12):c.3456C>T (p.Ile1152=)	not specified [RCV000616424]	likely benign	X	71128699	71128699	Human		name
13535583	CV508640	single nucleotide variant	NM_005120.3(MED12):c.4146C>T (p.Ile1382=)	FG syndrome [RCV003596061]\|not provided [RCV001697950]	likely benign	X	71132099	71132099	Human	1	name
13525350	CV508645	single nucleotide variant	NM_005120.3(MED12):c.5712G>A (p.Ala1904=)	FG syndrome [RCV003762834]\|not provided [RCV000863999]	benign\|likely benign	X	71137347	71137347	Human	1	name
13535824	CV508692	single nucleotide variant	NM_005120.3(MED12):c.3516C>A (p.Thr1172=)	FG syndrome [RCV003767677]\|not specified [RCV000608111]	likely benign	X	71129154	71129154	Human	1	name
13534751	CV510963	single nucleotide variant	NM_005120.3(MED12):c.701A>T (p.Asp234Val)	Cardiovascular phenotype [RCV000618986]	uncertain significance	X	71121118	71121118	Human		name
13527181	CV510964	single nucleotide variant	NM_005120.3(MED12):c.872C>A (p.Ala291Glu)	FG syndrome [RCV003767813]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313389]	likely benign\|uncertain significance	X	71121587	71121587	Human	2	name
13529519	CV510969	single nucleotide variant	NM_005120.3(MED12):c.3009C>A (p.Thr1003=)	FG syndrome [RCV005091788]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313387]	likely benign	X	71127920	71127920	Human	2	name
13534983	CV510970	single nucleotide variant	NM_005120.3(MED12):c.3222C>T (p.Ile1074=)	FG syndrome [RCV003762838]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313382]\|not provided [RCV000863756]\|not specified [RCV005056343]	likely benign	X	71128308	71128308	Human	2	name
13534869	CV510971	single nucleotide variant	NM_005120.3(MED12):c.3357C>T (p.Val1119=)	FG syndrome [RCV003767814]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313391]	benign\|likely benign	X	71128600	71128600	Human	2	name
13534205	CV510973	single nucleotide variant	NM_005120.3(MED12):c.3948G>A (p.Gln1316=)	FG syndrome [RCV005091787]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313384]	likely benign	X	71130115	71130115	Human	2	name
13592826	CV510974	single nucleotide variant	NM_005120.3(MED12):c.4041T>C (p.Ile1347=)	FG syndrome [RCV003767811]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313383]	benign\|likely benign	X	71130208	71130208	Human	2	name
13534460	CV510980	single nucleotide variant	NM_005120.3(MED12):c.5442G>C (p.Val1814=)	FG syndrome [RCV003767810]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313378]\|not provided [RCV001584441]	likely benign	X	71136920	71136920	Human	2	name
13531330	CV512733	single nucleotide variant	NM_005120.3(MED12):c.887G>A (p.Arg296Gln)	Blepharophimosis - intellectual disability syndrome, MKB type [RCV001805226]\|FG syndrome 1 [RCV001580299]\|FG syndrome [RCV003596075]\|Inborn genetic diseases [RCV000623246]\|not provided [RCV003117433]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	X	71121602	71121602	Human	4	name
13530883	CV512734	deletion	NM_005120.3(MED12):c.1300del (p.Ala434fs)	Inborn genetic diseases [RCV000622863]	likely pathogenic	X	71122558	71122558	Human	1	name
13616695	CV534917	single nucleotide variant	NM_005120.3(MED12):c.3498G>A (p.Glu1166=)	FG syndrome [RCV003767848]	likely benign	X	71129136	71129136	Human	1	name
13616702	CV535061	single nucleotide variant	NM_005120.3(MED12):c.5655C>T (p.Val1885=)	FG syndrome 1 [RCV000633704]	likely benign	X	71137290	71137290	Human	1	name
13803211	CV573974	single nucleotide variant	NM_005120.3(MED12):c.3693G>T (p.Gly1231=)	FG syndrome [RCV003596524]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003344009]	likely benign\|uncertain significance	X	71129681	71129681	Human	2	name
126762417	CV999860	single nucleotide variant	NM_005120.3(MED12):c.965C>T (p.Ala322Val)	FG syndrome [RCV003595737]	uncertain significance	X	71121680	71121680	Human	1	name
8642170	CV101154	single nucleotide variant	NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)	FG syndrome [RCV003761744]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311001]\|MED12-related disorder [RCV003985268]\|not provided [RCV000081268]\|not specified [RCV000121331]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	X	71137346	71137346	Human	2	alternate_id
127266184	CV1086816	microsatellite	NM_005120.3(MED12):c.2123AGG[1] (p.Glu709del)	FG syndrome [RCV003595772]\|MED12-related disorder [RCV003985496]\|not provided [RCV003313224]	likely benign\|uncertain significance	X	71125043	71125045	Human		alternate_id
150405676	CV1178784	single nucleotide variant	NM_005120.3(MED12):c.2384C>T (p.Pro795Leu)	FG syndrome [RCV003595839]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003298923]\|MED12-related disorder [RCV004738333]\|not provided [RCV001544967]	likely benign\|uncertain significance	X	71125675	71125675	Human	2	alternate_id
150409564	CV1178785	single nucleotide variant	NM_005120.3(MED12):c.3284T>C (p.Val1095Ala)	FG syndrome [RCV003761397]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822414]\|MED12-related disorder [RCV003985506]\|not provided [RCV001546298]	uncertain significance	X	71128370	71128370	Human	2	alternate_id
150406372	CV1200242	single nucleotide variant	NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	Blepharophimosis - intellectual disability syndrome, MKB type [RCV002287504]\|Cholestasis-pigmentary retinopathy-cleft palate syndrome [RCV003152766]\|FG syndrome 1 [RCV001580311]\|MED12-related disorder [RCV003985512]\|MED12-re ... (more) lated intellectual disability syndrome [RCV004594366]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	X	71128655	71128655	Human	5	trait , alternate_id
150406384	CV1200246	single nucleotide variant	NM_005120.3(MED12):c.4070G>A (p.Arg1357His)	FG syndrome 1 [RCV001580319]\|FG syndrome [RCV003761408]\|MED12-related disorder [RCV004738351]\|not provided [RCV001813828]	pathogenic\|likely pathogenic\|not provided	X	71131572	71131572	Human	2	alternate_id
150550970	CV1292347	single nucleotide variant	NM_005120.3(MED12):c.5203C>T (p.Arg1735Cys)	FG syndrome [RCV005057559]\|MED12-related disorder [RCV004728789]\|not provided [RCV001753954]	uncertain significance	X	71136458	71136458	Human	1	alternate_id
150549488	CV1295276	single nucleotide variant	NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp)	FG syndrome [RCV003761419]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003298963]\|MED12-related disorder [RCV004738367]\|not provided [RCV001765176]	uncertain significance	X	71136900	71136900	Human	2	alternate_id
150552296	CV1301247	single nucleotide variant	NM_005120.3(MED12):c.5584C>T (p.Arg1862Cys)	FG syndrome [RCV005095005]\|MED12-related disorder [RCV003985516]\|not provided [RCV001767657]	uncertain significance	X	71137219	71137219	Human	1	alternate_id
150548284	CV1310149	single nucleotide variant	NM_005120.3(MED12):c.439G>A (p.Ala147Thr)	FG syndrome [RCV003772106]\|MED12-related disorder [RCV003985518]\|X-linked intellectual disability with marfanoid habitus [RCV002503255]\|not provided [RCV003238147]	benign\|uncertain significance	X	71120056	71120056	Human	5	alternate_id
151662960	CV1330791	single nucleotide variant	NM_005120.3(MED12):c.1994C>G (p.Ser665Cys)	FG syndrome [RCV003597222]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003163974]\|MED12-related disorder [RCV004738392]\|not provided [RCV001824527]	benign\|uncertain significance	X	71124783	71124783	Human	2	alternate_id
8660033	CV135037	single nucleotide variant	NM_005120.3(MED12):c.3797G>A (p.Arg1266His)	FG syndrome [RCV003595863]\|MED12-related disorder [RCV003985272]\|not provided [RCV000117599]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71129785	71129785	Human	1	alternate_id
151755195	CV1365497	single nucleotide variant	NM_005120.3(MED12):c.707C>T (p.Thr236Ile)	FG syndrome [RCV003772625]\|MED12-related disorder [RCV003985526]	uncertain significance	X	71121124	71121124	Human	1	alternate_id
151747009	CV1375142	single nucleotide variant	NM_005120.3(MED12):c.2894C>T (p.Ser965Phe)	FG syndrome [RCV003772809]\|MED12-related disorder [RCV003985530]	uncertain significance	X	71127380	71127380	Human	1	alternate_id
8687897	CV138375	single nucleotide variant	NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)	FG syndrome 1 [RCV000228384]\|FG syndrome [RCV003595865]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002321600]\|MED12-related disorder [RCV003985274]\|X-linked intellectual disability with marfanoid habitus [RCV002492431]\|not provided [RCV001697144 ... (more) ]\|not specified [RCV000121329]	likely benign\|not provided	X	71131613	71131613	Human	6	alternate_id
151819004	CV1385800	single nucleotide variant	NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu)	FG syndrome [RCV003597277]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002337122]\|MED12-related disorder [RCV003985539]	uncertain significance	X	71134374	71134374	Human	2	alternate_id
151844231	CV1496208	single nucleotide variant	NM_005120.3(MED12):c.2351G>A (p.Arg784His)	FG syndrome [RCV003762016]\|MED12-related disorder [RCV003985528]	uncertain significance	X	71125475	71125475	Human	1	alternate_id
151730389	CV1505495	single nucleotide variant	NM_005120.3(MED12):c.2529G>C (p.Gln843His)	FG syndrome [RCV003773447]\|MED12-related disorder [RCV003985540]	uncertain significance	X	71126142	71126142	Human	1	alternate_id
152032003	CV1671062	single nucleotide variant	NM_005120.3(MED12):c.6428A>C (p.Gln2143Pro)	X-linked intellectual disability with marfanoid habitus [RCV002226599]	uncertain significance	X	71141902	71141902	Human		alternate_id
9687286	CV177599	microsatellite	NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)	FG syndrome [RCV003761792]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004019831]\|MED12-related disorder [RCV003985282]\|not provided [RCV001172017]\|not specified [RCV000153024]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71140797	71140798	Human		alternate_id
9688617	CV177601	deletion	NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)	Cardiovascular phenotype [RCV000619880]\|FG syndrome [RCV003595869]\|MED12-related disorder [RCV003985283]\|not provided [RCV001719948]\|not specified [RCV000153026]	benign\|likely benign\|uncertain significance	X	71141272	71141286	Human	1	alternate_id
156419188	CV1926260	single nucleotide variant	NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn)	FG syndrome [RCV003596204]\|MED12-related disorder [RCV003985575]	uncertain significance	X	71137562	71137562	Human	1	alternate_id
156012150	CV2039394	single nucleotide variant	NM_005120.3(MED12):c.629C>T (p.Ala210Val)	FG syndrome [RCV003776950]\|MED12-related disorder [RCV003985566]\|not specified [RCV004801240]	likely benign\|uncertain significance	X	71121046	71121046	Human	1	alternate_id
10410808	CV210566	single nucleotide variant	NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser)	FG syndrome [RCV003761818]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311057]\|MED12-related disorder [RCV003985304]\|not provided [RCV000198940]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71131617	71131617	Human	2	alternate_id
10409135	CV210573	single nucleotide variant	NM_005120.3(MED12):c.6097A>G (p.Met2033Val)	FG syndrome [RCV003595887]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002354550]\|MED12-related disorder [RCV003985305]\|X-linked intellectual disability with marfanoid habitus [RCV000766104]\|not provided [RCV001721275]	benign\|likely benign\|uncertain significance	X	71140687	71140687	Human	5	alternate_id
10410642	CV210575	microsatellite	NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del)	FG syndrome [RCV003595884]\|MED12-related disorder [RCV003985303]\|not specified [RCV000198584]	likely benign\|uncertain significance	X	71140739	71140744	Human		alternate_id
10410554	CV210578	microsatellite	NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del)	FG syndrome [RCV003595891]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004020375]\|MED12-related disorder [RCV003985306]\|not provided [RCV001705116]	benign\|likely benign\|uncertain significance	X	71140830	71140832	Human		alternate_id
11087701	CV227712	single nucleotide variant	NM_005120.3(MED12):c.1562G>A (p.Arg521His)	MED12-related disorder [RCV003985309]\|not provided [RCV001753638]\|not specified [RCV000211106]	likely pathogenic\|uncertain significance	X	71123171	71123171	Human		alternate_id
243057216	CV2415646	deletion	NM_005120.3(MED12):c.6211del (p.Gln2071fs)	FG syndrome 1 [RCV003148247]\|MED12-related disorder [RCV004527453]	likely pathogenic	X	71140801	71140801	Human	2	alternate_id
401875303	CV2749878	deletion	NM_005120.3(MED12):c.4483_4490del (p.Gln1495fs)	Cholestasis-pigmentary retinopathy-cleft palate syndrome [RCV003333271]\|MED12-related disorder [RCV005228003]\|Nonspecific Intellectual Disability [RCV004527456]	pathogenic	X	71132911	71132918	Human	1	alternate_id
401927365	CV2797084	duplication	NM_005120.3(MED12):c.6384_6389dup (p.Gln2132_Ser2133insProGln)	MED12-related disorder [RCV003985598]	uncertain significance	X	71141340	71141341	Human		trait , alternate_id
401914168	CV2799200	single nucleotide variant	NM_005120.3(MED12):c.6042A>G (p.Gln2014=)	MED12-related disorder [RCV003985607]	uncertain significance	X	71137941	71137941	Human		trait , alternate_id
401907185	CV2800136	single nucleotide variant	NM_005120.3(MED12):c.5887A>G (p.Met1963Val)	MED12-related disorder [RCV003985584]	uncertain significance	X	71137786	71137786	Human		trait , alternate_id
401902267	CV2804175	single nucleotide variant	NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu)	FG syndrome [RCV003596247]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823151]\|MED12-related disorder [RCV003985610]	uncertain significance	X	71128346	71128346	Human	2	alternate_id
401932700	CV2804401	single nucleotide variant	NM_005120.3(MED12):c.3734G>A (p.Gly1245Glu)	FG syndrome [RCV005099944]\|MED12-related disorder [RCV003985612]	likely benign\|uncertain significance	X	71129722	71129722	Human	1	alternate_id
401907178	CV2804651	single nucleotide variant	NM_005120.3(MED12):c.2125G>C (p.Glu709Gln)	MED12-related disorder [RCV003985619]	uncertain significance	X	71125045	71125045	Human		trait , alternate_id
405085156	CV2872063	single nucleotide variant	NM_005120.3(MED12):c.4535A>G (p.Asn1512Ser)	FG syndrome [RCV003596423]\|MED12-related disorder [RCV003985627]	uncertain significance	X	71133130	71133130	Human	1	alternate_id
404980767	CV3120987	single nucleotide variant	NM_005120.3(MED12):c.3009C>G (p.Thr1003=)	FG syndrome [RCV003825979]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004366787]\|MED12-related disorder [RCV003985636]	benign\|likely benign	X	71127920	71127920	Human	2	alternate_id
405280454	CV3198876	single nucleotide variant	NM_005120.3(MED12):c.1702G>T (p.Asp568Tyr)	MED12-related disorder [RCV003985648]	uncertain significance	X	71123678	71123678	Human		trait , alternate_id
405854658	CV3392530	single nucleotide variant	NM_005120.3(MED12):c.5993A>T (p.Tyr1998Phe)	MED12-related disorder [RCV004527550]	uncertain significance	X	71137892	71137892	Human		trait , alternate_id
408371293	CV3503747	single nucleotide variant	NM_005120.3(MED12):c.1978C>G (p.Pro660Ala)	MED12-related disorder [RCV004724622]	uncertain significance	X	71124767	71124767	Human		trait , alternate_id
408371377	CV3503827	duplication	NM_005120.3(MED12):c.4245dup (p.Val1416fs)	MED12-related disorder [RCV004724669]	likely pathogenic	X	71132197	71132198	Human		trait , alternate_id
408369251	CV3508313	single nucleotide variant	NM_005120.3(MED12):c.5106G>A (p.Trp1702Ter)	MED12-related disorder [RCV004736765]	likely pathogenic	X	71136361	71136361	Human		trait , alternate_id
408369706	CV3514737	single nucleotide variant	NM_005120.3(MED12):c.5449C>T (p.Pro1817Ser)	MED12-related disorder [RCV004737126]	uncertain significance	X	71136927	71136927	Human		trait , alternate_id
596930862	CV3540338	single nucleotide variant	NM_005120.3(MED12):c.6328C>T (p.Gln2110Ter)	MED12-related disorder [RCV004792326]	pathogenic	X	71141290	71141290	Human		trait , alternate_id
12838267	CV378607	single nucleotide variant	NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser)	FG syndrome [RCV003595965]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004022347]\|MED12-related disorder [RCV004737472]\|not provided [RCV001712371]	benign\|likely benign	X	71137294	71137294	Human	2	alternate_id
13529193	CV508219	single nucleotide variant	NM_005120.3(MED12):c.5490A>C (p.Thr1830=)	FG syndrome [RCV005091734]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315940]\|MED12-related disorder [RCV003985397]\|not provided [RCV000633699]	benign\|likely benign	X	71136968	71136968	Human	2	alternate_id
13819964	CV573985	microsatellite	NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del)	FG syndrome [RCV003762859]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002360762]\|MED12-related disorder [RCV003985412]\|not provided [RCV004692133]	likely benign\|uncertain significance	X	71141248	71141250	Human		alternate_id
13830196	CV581033	single nucleotide variant	NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro)	FG syndrome [RCV003596543]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002316814]\|MED12-related disorder [RCV003985420]\|not provided [RCV001725198]	benign\|likely benign	X	71136522	71136522	Human	2	alternate_id
13829349	CV581185	single nucleotide variant	NM_005120.3(MED12):c.6204G>A (p.Gln2068=)	FG syndrome [RCV003762865]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313641]\|MED12-related disorder [RCV003985418]	likely benign	X	71140794	71140794	Human	2	alternate_id
14714622	CV656792	single nucleotide variant	NM_005120.3(MED12):c.3918C>T (p.Asp1306=)	FG syndrome [RCV003762898]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002352484]\|MED12-related disorder [RCV003985432]\|not provided [RCV000829098]	likely benign	X	71130085	71130085	Human	2	alternate_id
38487578	CV951874	single nucleotide variant	NM_005120.3(MED12):c.5617A>G (p.Thr1873Ala)	FG syndrome [RCV003595723]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002348805]\|MED12-related disorder [RCV004738211]	likely benign\|uncertain significance	X	71137252	71137252	Human	2	alternate_id
38493796	CV959340	single nucleotide variant	NM_005120.3(MED12):c.6384A>G (p.Gln2128=)	FG syndrome [RCV003595726]\|MED12-related disorder [RCV003985486]	likely benign\|uncertain significance	X	71141346	71141346	Human	1	alternate_id
40903314	CV975878	microsatellite	NM_005120.3(MED12):c.5691_5692del (p.Tyr1898fs)	MED12-related disorder [RCV001269297]	pathogenic	X	71137323	71137324	Human		trait , alternate_id
616934210	CV4012198	single nucleotide variant	NM_001393769.1(MED12L):c.205-2A>T	Nizon-Isidor syndrome [RCV005409232]	likely pathogenic	3	151122781	151122781	Human	1	name
8578184	CV112562	single nucleotide variant	NM_053002.5(MED12L):c.5715+1961T>C	Lung cancer [RCV000093085]	uncertain significance	3	151396828	151396828	Human		name
150557211	CV1311407	single nucleotide variant	NM_001393769.1(MED12L):c.2517+6T>C	Nizon-Isidor syndrome [RCV001775515]\|not provided [RCV004716803]	benign	3	151355245	151355245	Human	1	name
152978480	CV1671655	single nucleotide variant	NM_001393769.1(MED12L):c.2251-4T>A	Nizon-Isidor syndrome [RCV002227760]	uncertain significance	3	151350055	151350055	Human	1	name
156050265	CV2271866	single nucleotide variant	NM_001393769.1(MED12L):c.2957+6T>C	Inborn genetic diseases [RCV002822285]	likely benign	3	151360611	151360611	Human	1	name
243050155	CV2415362	single nucleotide variant	NM_001393769.1(MED12L):c.3664+2T>G	Nizon-Isidor syndrome [RCV003147873]	likely pathogenic	3	151369551	151369551	Human	1	name
401859997	CV2794445	single nucleotide variant	NM_001393769.1(MED12L):c.3664+1G>A	Nizon-Isidor syndrome [RCV003387613]	likely pathogenic	3	151369550	151369550	Human	1	name
401938054	CV2797549	single nucleotide variant	NM_001393769.1(MED12L):c.5608+1G>T	MED12L-related disorder [RCV003417157]	uncertain significance	3	151390136	151390136	Human		name , trait , alternate_id
404999057	CV2850449	single nucleotide variant	NM_001393769.1(MED12L):c.1626+4G>A	Nizon-Isidor syndrome [RCV003493073]	uncertain significance	3	151185465	151185465	Human	1	name
405182762	CV2909722	single nucleotide variant	NM_001393769.1(MED12L):c.6490+4A>C	not provided [RCV003564148]	uncertain significance	3	151430384	151430384	Human		name
405258232	CV3203145	single nucleotide variant	NM_001393769.1(MED12L):c.2518-3C>A	MED12L-related disorder [RCV003941758]	likely benign	3	151355893	151355893	Human		name , trait , alternate_id
405271001	CV3218826	single nucleotide variant	NM_001393769.1(MED12L):c.3665-5C>T	MED12L-related disorder [RCV003971584]	likely benign	3	151372562	151372562	Human		name , trait , alternate_id
405654473	CV3228119	duplication	NM_001393769.1(MED12L):c.4927-7dup	not specified [RCV003994854]	likely benign	3	151385017	151385018	Human		name
407504606	CV3495942	single nucleotide variant	NM_001393769.1(MED12L):c.4927-1G>T	not provided [RCV004697782]	likely pathogenic	3	151385029	151385029	Human		name
408366228	CV3500116	single nucleotide variant	NM_001393769.1(MED12L):c.6298-2A>C	not provided [RCV004722159]	likely pathogenic	3	151416310	151416310	Human		name
408374769	CV3507266	single nucleotide variant	NM_001393769.1(MED12L):c.1494+1G>C	MED12L-related disorder [RCV004747464]	uncertain significance	3	151165983	151165983	Human		name , trait , alternate_id
598224928	CV3989194	single nucleotide variant	NM_001393769.1(MED12L):c.2662-3C>G	Inborn genetic diseases [RCV005380305]	uncertain significance	3	151357210	151357210	Human	1	name
616937846	CV4013778	single nucleotide variant	NM_001393769.1(MED12L):c.4590+1G>A	MED12L-associated neurodevelopmental disorder [RCV005413270]	likely pathogenic	3	151380225	151380225	Human		name
616939478	CV4013970	single nucleotide variant	NM_001393769.1(MED12L):c.3665-6A>G	not provided [RCV005413462]	uncertain significance	3	151372561	151372561	Human		name
617153146	CV4021120	single nucleotide variant	NM_001393769.1(MED12L):c.4053+8G>A	not provided [RCV005428873]	likely benign	3	151376222	151376222	Human		name
14688255	CV583202	single nucleotide variant	NM_001393769.1(MED12L):c.4791-1G>A	Intellectual disability [RCV000779623]\|Nizon-Isidor syndrome [RCV001090066]	pathogenic	3	151384082	151384082	Human	3	name
15098314	CV777225	single nucleotide variant	NM_001393769.1(MED12L):c.2661+7A>G	not provided [RCV000958529]	benign	3	151356046	151356046	Human		name
28875810	CV858670	single nucleotide variant	NM_001393769.1(MED12L):c.4479-1G>A	Nizon-Isidor syndrome [RCV001090065]	pathogenic	3	151380112	151380112	Human	1	name
8578182	CV112560	single nucleotide variant	NM_053002.5(MED12L):c.2145+63249T>C	Lung cancer [RCV000093083]	uncertain significance	3	151256914	151256914	Human		name
8578183	CV112561	single nucleotide variant	NM_053002.5(MED12L):c.2146-54783C>A	Lung cancer [RCV000093084]	uncertain significance	3	151295276	151295276	Human		name
150503567	CV1241831	single nucleotide variant	NM_001393769.1(MED12L):c.4790+15C>T	Nizon-Isidor syndrome [RCV001776268]\|not provided [RCV001657423]	benign	3	151383903	151383903	Human	1	name
150557210	CV1311406	single nucleotide variant	NM_001393769.1(MED12L):c.1358-33C>T	Nizon-Isidor syndrome [RCV001775514]\|not provided [RCV004716802]	benign	3	151165813	151165813	Human	1	name
150557213	CV1311409	single nucleotide variant	NM_001393769.1(MED12L):c.3448+24C>A	Nizon-Isidor syndrome [RCV001775517]\|not provided [RCV004716804]	benign	3	151367790	151367790	Human	1	name
616938394	CV4014946	indel	NM_001393769.1(MED12L):c.4478+3delinsTTC	not provided [RCV005411962]	uncertain significance	3	151378176	151378176	Human		name
597897519	CV3782403	insertion	NM_005120.3(MED12):c.3210-5_3210-4insGGAA	FG syndrome [RCV005126628]	uncertain significance	X	71128291	71128292	Human	1	name
14726398	CV670982	deletion	NM_005120.3(MED12):c.5025+156_5025+157del	not provided [RCV000833854]	benign	X	71135409	71135410	Human		name
152156282	CV1573030	indel	NM_005120.3(MED12):c.100-15_100-14delinsAA	FG syndrome [RCV003762149]	likely benign	X	71119358	71119359	Human		name
156260875	CV2100606	indel	NM_005120.3(MED12):c.100-15_100-14delinsTT	FG syndrome [RCV003764037]	uncertain significance	X	71119358	71119359	Human		name
401928696	CV2829240	insertion	NM_005120.3(MED12):c.4416-66_4416-65insTTTCT	not provided [RCV003439576]	likely benign	X	71132775	71132776	Human		name
156248954	CV2106452	insertion	NM_005120.3(MED12):c.4416-16_4416-15insCTTCTC	FG syndrome [RCV003596119]	likely benign	X	71132829	71132830	Human	1	name
10449851	CV215627	insertion	NM_005120.2(MED12):c.6339_6340insCAGCAACACCAG	not specified [RCV000203010]	benign	X	71141301	71141302	Human		name
401928691	CV2829238	microsatellite	NM_005120.3(MED12):c.4416-74_4416-73insCCTCTTCTCT	not provided [RCV003439574]	likely benign	X	71132767	71132768	Human		name
152140128	CV1660793	insertion	NM_005120.3(MED12):c.4416-16_4416-15insCTTCTCTTCTCTTCTCTTCTC	FG syndrome [RCV003762236]	likely benign	X	71132829	71132830	Human	1	name
401963695	CV2843255	insertion	NM_005120.3(MED12):c.1101+8_1101+9insCCTAGGCGGGTACCCTACAGCTACAGGTAGGTACCC	not specified [RCV003479597]	uncertain significance	X	71121823	71121824	Human		name
153301038	CV1688878	single nucleotide variant	NM_001393769.1(MED12L):c.701A>G (p.Glu234Gly)	Inborn genetic diseases [RCV004958522]\|MED12L-related disorder [RCV003418431]\|Nizon-Isidor syndrome [RCV002266606]	uncertain significance	3	151156305	151156305	Human	2	alternate_id
156133017	CV2365930	single nucleotide variant	NM_001393769.1(MED12L):c.5372A>G (p.Asp1791Gly)	Inborn genetic diseases [RCV002981970]\|MED12L-related disorder [RCV003900915]	likely benign	3	151388093	151388093	Human	2	alternate_id
156103519	CV2400216	single nucleotide variant	NM_001393769.1(MED12L):c.1906C>T (p.Arg636Trp)	Inborn genetic diseases [RCV002785062]\|MED12L-related disorder [RCV003963794]	likely benign	3	151190869	151190869	Human	2	alternate_id
401919871	CV2796446	single nucleotide variant	NM_001393769.1(MED12L):c.6151C>G (p.Gln2051Glu)	MED12L-related disorder [RCV003402482]	uncertain significance	3	151413149	151413149	Human		trait , alternate_id
401922905	CV2796591	single nucleotide variant	NM_001393769.1(MED12L):c.6071A>G (p.Gln2024Arg)	MED12L-related disorder [RCV003404211]	uncertain significance	3	151411438	151411438	Human		trait , alternate_id
401919480	CV2798430	single nucleotide variant	NM_001393769.1(MED12L):c.6163C>T (p.Gln2055Ter)	MED12L-related disorder [RCV003402372]	uncertain significance	3	151413161	151413161	Human		trait , alternate_id
401937636	CV2798908	single nucleotide variant	NM_001393769.1(MED12L):c.3233C>G (p.Thr1078Ser)	MED12L-related disorder [RCV003416726]	uncertain significance	3	151365897	151365897	Human		trait , alternate_id
401935102	CV2799880	single nucleotide variant	NM_001393769.1(MED12L):c.5511A>C (p.Gln1837His)	Inborn genetic diseases [RCV005377371]\|MED12L-related disorder [RCV003412520]	uncertain significance	3	151390038	151390038	Human	2	alternate_id
401906247	CV2799903	single nucleotide variant	NM_001393769.1(MED12L):c.2914G>A (p.Val972Met)	MED12L-related disorder [RCV003421192]	uncertain significance	3	151360562	151360562	Human		trait , alternate_id
401905573	CV2800431	single nucleotide variant	NM_001393769.1(MED12L):c.3373A>G (p.Ile1125Val)	MED12L-related disorder [RCV003420723]	uncertain significance	3	151367691	151367691	Human		trait , alternate_id
401912954	CV2801517	single nucleotide variant	NM_001393769.1(MED12L):c.4003T>C (p.Cys1335Arg)	MED12L-related disorder [RCV003400023]	uncertain significance	3	151376164	151376164	Human		trait , alternate_id
401921068	CV2801979	single nucleotide variant	NM_001393769.1(MED12L):c.5886G>C (p.Gln1962His)	MED12L-related disorder [RCV003402750]\|not specified [RCV004690406]	uncertain significance	3	151409308	151409308	Human	1	alternate_id
401933905	CV2802384	single nucleotide variant	NM_001393769.1(MED12L):c.2755G>A (p.Val919Met)	MED12L-related disorder [RCV003410785]	uncertain significance	3	151357306	151357306	Human		trait , alternate_id
405282487	CV3191037	single nucleotide variant	NM_001393769.1(MED12L):c.3840T>C (p.Tyr1280=)	MED12L-related disorder [RCV003921455]	likely benign	3	151372742	151372742	Human		trait , alternate_id
405286194	CV3192719	single nucleotide variant	NM_001393769.1(MED12L):c.5562G>A (p.Gln1854=)	MED12L-related disorder [RCV003981474]	likely benign	3	151390089	151390089	Human		trait , alternate_id
405286852	CV3192988	single nucleotide variant	NM_001393769.1(MED12L):c.4104G>A (p.Met1368Ile)	MED12L-related disorder [RCV003981669]	uncertain significance	3	151376850	151376850	Human		trait , alternate_id
405268246	CV3198830	single nucleotide variant	NM_001393769.1(MED12L):c.2838G>A (p.Val946=)	MED12L-related disorder [RCV003911950]	likely benign	3	151360486	151360486	Human		trait , alternate_id
405268928	CV3201210	microsatellite	NM_001393769.1(MED12L):c.1871GAG[1] (p.Gly625del)	MED12L-related disorder [RCV003899316]	uncertain significance	3	151190834	151190836	Human		trait , alternate_id
405272535	CV3201301	single nucleotide variant	NM_001393769.1(MED12L):c.5256G>A (p.Met1752Ile)	MED12L-related disorder [RCV003901365]	uncertain significance	3	151387977	151387977	Human		trait , alternate_id
405286930	CV3205392	single nucleotide variant	NM_001393769.1(MED12L):c.3950T>C (p.Met1317Thr)	MED12L-related disorder [RCV003959571]\|not provided [RCV004585091]	likely benign	3	151376111	151376111	Human	1	alternate_id
405271878	CV3209565	single nucleotide variant	NM_001393769.1(MED12L):c.6275G>A (p.Arg2092Gln)	MED12L-related disorder [RCV003949862]	likely benign	3	151413273	151413273	Human		trait , alternate_id
405266399	CV3213093	single nucleotide variant	NM_001393769.1(MED12L):c.4323C>T (p.Ser1441=)	MED12L-related disorder [RCV003969254]	likely benign	3	151378018	151378018	Human		trait , alternate_id
405290405	CV3220075	single nucleotide variant	NM_001393769.1(MED12L):c.4452G>A (p.Lys1484=)	MED12L-related disorder [RCV003962309]	likely benign	3	151378147	151378147	Human		trait , alternate_id
408382644	CV3503553	single nucleotide variant	NM_001393769.1(MED12L):c.1664C>T (p.Ser555Phe)	MED12L-related disorder [RCV004730052]	uncertain significance	3	151188391	151188391	Human		trait , alternate_id
408371300	CV3503755	single nucleotide variant	NM_001393769.1(MED12L):c.4098G>C (p.Gln1366His)	MED12L-related disorder [RCV004724626]	uncertain significance	3	151376844	151376844	Human		trait , alternate_id
408378572	CV3505350	single nucleotide variant	NM_001393769.1(MED12L):c.118A>C (p.Asn40His)	MED12L-related disorder [RCV004728030]	uncertain significance	3	151116356	151116356	Human		trait , alternate_id
408379280	CV3506822	single nucleotide variant	NM_001393769.1(MED12L):c.5203G>A (p.Val1735Met)	MED12L-related disorder [RCV004728346]	uncertain significance	3	151387924	151387924	Human		trait , alternate_id
408375129	CV3510178	single nucleotide variant	NM_001393769.1(MED12L):c.3271C>A (p.Leu1091Ile)	MED12L-related disorder [RCV004747821]	uncertain significance	3	151365935	151365935	Human		trait , alternate_id
408375250	CV3511013	single nucleotide variant	NM_001393769.1(MED12L):c.6393G>T (p.Gln2131His)	MED12L-related disorder [RCV004747934]	uncertain significance	3	151416407	151416407	Human		trait , alternate_id
408375347	CV3511274	single nucleotide variant	NM_001393769.1(MED12L):c.16C>G (p.Leu6Val)	MED12L-related disorder [RCV004747975]	uncertain significance	3	151086942	151086942	Human		trait , alternate_id
408374404	CV3516024	duplication	NM_001393769.1(MED12L):c.991_1005dup (p.Gly335_Pro336insAlaProSerProGly)	MED12L-related disorder [RCV004746714]	uncertain significance	3	151159984	151159985	Human		trait , alternate_id
408374554	CV3516866	single nucleotide variant	NM_001393769.1(MED12L):c.3507T>C (p.His1169=)	MED12L-related disorder [RCV004746844]	likely benign	3	151368208	151368208	Human		trait , alternate_id
13466032	CV472195	single nucleotide variant	NM_005120.3(MED12):c.6294G>A (p.Gln2098=)	FG syndrome [RCV003762772]	likely benign	X	71141256	71141256	Human	1	name
13540976	CV508381	single nucleotide variant	NM_005120.3(MED12):c.3231G>T (p.Leu1077=)	not specified [RCV000615486]	likely benign	X	71128317	71128317	Human		name

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