Map2k2 Variant Search Result - Rat Genome Database

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921 records found for search term Map2k2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
12846289	CV376554	single nucleotide variant	NM_030662.4(MAP2K2):c.*2A>T	not specified [RCV000441365]	likely benign	19	4090596	4090596	Human		name
12835047	CV377543	single nucleotide variant	NM_030662.4(MAP2K2):c.-9G>A	not provided [RCV000421011]\|not specified [RCV004701478]	likely benign\|uncertain significance	19	4123884	4123884	Human		name
13527540	CV506841	single nucleotide variant	NM_030662.4(MAP2K2):c.-4C>G	Cardiovascular phenotype [RCV004025003]\|not provided [RCV001719091]\|not specified [RCV003987621]	likely benign\|uncertain significance	19	4123879	4123879	Human		name
8609081	CV55387	single nucleotide variant	NM_030662.3(MAP2K2):c.*8C>T	Noonan syndrome and Noonan-related syndrome [RCV001813363]\|RASopathy [RCV000523941]\|not specified [RCV000039466]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4090590	4090590	Human	1	name
8609082	CV55389	single nucleotide variant	NM_030662.4(MAP2K2):c.*9G>A	not specified [RCV000039467]	likely benign	19	4090589	4090589	Human		name
150450425	CV1215245	single nucleotide variant	NM_030662.4(MAP2K2):c.*24C>G	not provided [RCV001611835]	benign	19	4090574	4090574	Human		name
8691901	CV141867	single nucleotide variant	NM_030662.3(MAP2K2):c.*19C>T	not provided [RCV001723694]\|not specified [RCV000126682]	benign\|likely benign	19	4090579	4090579	Human		name
155741371	CV1779973	single nucleotide variant	NM_030662.4(MAP2K2):c.-16G>A	not specified [RCV002302577]	uncertain significance	19	4123891	4123891	Human		name
11637876	CV264853	single nucleotide variant	NM_030662.4(MAP2K2):c.-42C>T	not provided [RCV000293798]	likely benign\|uncertain significance	19	4123917	4123917	Human		name
12834714	CV377714	single nucleotide variant	NM_030662.4(MAP2K2):c.-23C>A	not provided [RCV000420421]	likely benign	19	4123898	4123898	Human		name
12835337	CV377716	single nucleotide variant	NM_030662.4(MAP2K2):c.-47A>G	not provided [RCV000421494]	likely benign	19	4123922	4123922	Human		name
12833891	CV379588	single nucleotide variant	NM_030662.4(MAP2K2):c.*20G>A	not provided [RCV001704470]\|not specified [RCV000419366]	benign\|likely benign	19	4090578	4090578	Human		name
12837593	CV379589	single nucleotide variant	NM_030662.4(MAP2K2):c.*14C>T	not specified [RCV000425437]	likely benign	19	4090584	4090584	Human		name
11542335	CV49318	single nucleotide variant	NM_030662.4(MAP2K2):c.*24C>T	not provided [RCV001636616]\|not specified [RCV000248903]	benign	19	4090574	4090574	Human		name
13526102	CV507414	single nucleotide variant	NM_030662.4(MAP2K2):c.-50C>A	not specified [RCV000603670]	likely benign	19	4123925	4123925	Human		name
151352088	CV1325066	single nucleotide variant	NM_030662.4(MAP2K2):c.-243C>T	Noonan syndrome and Noonan-related syndrome [RCV001813621]	benign	19	4124118	4124118	Human		name
152063609	CV1587855	single nucleotide variant	NM_030662.4(MAP2K2):c.93-4G>T	RASopathy [RCV002090571]	likely benign	19	4117633	4117633	Human	1	name
9690498	CV176033	single nucleotide variant	NM_030662.4(MAP2K2):c.93-6C>T	Noonan syndrome and Noonan-related syndrome [RCV001813405]\|RASopathy [RCV000465734]\|not provided [RCV001711316]\|not specified [RCV000156178]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4117635	4117635	Human	1	name
156006500	CV1902735	single nucleotide variant	NM_030662.4(MAP2K2):c.93-8C>T	RASopathy [RCV003099055]	likely benign	19	4117637	4117637	Human	1	name
597893586	CV3857104	single nucleotide variant	NM_030662.4(MAP2K2):c.92+8G>A	RASopathy [RCV005200967]	likely benign	19	4123776	4123776	Human	1	name
150502609	CV49319	single nucleotide variant	NM_030662.4(MAP2K2):c.*174C>A	not provided [RCV001595149]	benign	19	4090424	4090424	Human	4	name
13796619	CV553046	single nucleotide variant	NM_030662.4(MAP2K2):c.-206G>T	not provided [RCV000680668]	benign	19	4124081	4124081	Human		name
13796560	CV553047	single nucleotide variant	NM_030662.3(MAP2K2):c.-269G>A	not provided [RCV000680647]	benign	19	4124144	4124144	Human		name
13796618	CV553048	single nucleotide variant	NM_030662.3(MAP2K2):c.-285G>T	not provided [RCV000680667]	benign	19	4124160	4124160	Human		name
13796731	CV553049	single nucleotide variant	NM_030662.3(MAP2K2):c.-366G>A	not provided [RCV000680725]	benign	19	4124241	4124241	Human		name
13797739	CV553050	single nucleotide variant	NM_030662.3(MAP2K2):c.-406C>A	not provided [RCV000681396]	likely benign	19	4124281	4124281	Human		name
13797738	CV553051	single nucleotide variant	NM_030662.3(MAP2K2):c.-419C>A	not provided [RCV000681395]	likely benign	19	4124294	4124294	Human		name
127245463	CV1106528	single nucleotide variant	NM_030662.4(MAP2K2):c.528+7C>T	RASopathy [RCV001424323]	likely benign	19	4102369	4102369	Human	1	name
127290813	CV1127904	single nucleotide variant	NM_030662.4(MAP2K2):c.984+8C>T	RASopathy [RCV001475872]	likely benign	19	4097271	4097271	Human	1	name
127294515	CV1158549	duplication	NM_030662.4(MAP2K2):c.93-15dup	Noonan syndrome and Noonan-related syndrome [RCV001813600]\|RASopathy [RCV001511778]	benign\|uncertain significance	19	4117638	4117639	Human	1	name
150508667	CV1214102	single nucleotide variant	NM_030662.4(MAP2K2):c.581-3C>T	RASopathy [RCV001866247]\|not provided [RCV001596623]	likely benign\|uncertain significance	19	4101146	4101146	Human	1	name
150479624	CV1239417	single nucleotide variant	NM_030662.4(MAP2K2):c.92+27C>G	not provided [RCV001652580]	benign	19	4123757	4123757	Human		name
150503090	CV1241723	single nucleotide variant	NM_030662.4(MAP2K2):c.93-31A>G	not provided [RCV001657314]	benign	19	4117660	4117660	Human		name
150492440	CV1281110	single nucleotide variant	NM_030662.4(MAP2K2):c.93-78A>G	not provided [RCV001716813]	benign	19	4117707	4117707	Human		name
151795253	CV1338537	single nucleotide variant	NM_030662.4(MAP2K2):c.529-2A>C	RASopathy [RCV001898553]	uncertain significance	19	4101282	4101282	Human	1	name
151800014	CV1365727	single nucleotide variant	NM_030662.4(MAP2K2):c.705+2T>C	RASopathy [RCV001917630]	uncertain significance	19	4101017	4101017	Human	1	name
151710472	CV1376960	single nucleotide variant	NM_030662.4(MAP2K2):c.528+6T>C	RASopathy [RCV001889269]	uncertain significance	19	4102370	4102370	Human	1	name
8691902	CV141868	single nucleotide variant	NM_030662.4(MAP2K2):c.93-20A>C	Cardiofaciocutaneous syndrome 4 [RCV005229950]\|RASopathy [RCV002055668]\|not provided [RCV004717044]\|not specified [RCV000126683]	benign	19	4117649	4117649	Human	2	name
152083884	CV1533357	single nucleotide variant	NM_030662.4(MAP2K2):c.920-6G>A	MAP2K2-related disorder [RCV003968850]\|RASopathy [RCV002093211]	likely benign	19	4097349	4097349	Human	2	name , trait , alternate_id
152171496	CV1552770	single nucleotide variant	NM_030662.4(MAP2K2):c.93-11G>T	RASopathy [RCV002143466]	likely benign	19	4117640	4117640	Human	1	name
152142108	CV1583636	single nucleotide variant	NM_030662.4(MAP2K2):c.705+8C>G	RASopathy [RCV002120514]	likely benign	19	4101011	4101011	Human	1	name
152150836	CV1605450	single nucleotide variant	NM_030662.4(MAP2K2):c.92+12G>T	RASopathy [RCV002102205]	likely benign	19	4123772	4123772	Human	1	name
152083720	CV1647933	single nucleotide variant	NM_030662.4(MAP2K2):c.450+9G>T	RASopathy [RCV002076711]	likely benign	19	4110500	4110500	Human	1	name
9689189	CV176032	single nucleotide variant	NM_030662.4(MAP2K2):c.303+8C>G	MAP2K2-related disorder [RCV003945213]\|RASopathy [RCV000520093]\|not provided [RCV000587724]\|not specified [RCV000154642]	benign	19	4117411	4117411	Human	2	name , trait , alternate_id
156346227	CV1868340	single nucleotide variant	NM_030662.4(MAP2K2):c.581-2A>G	RASopathy [RCV003064534]	uncertain significance	19	4101145	4101145	Human	1	name
156371480	CV1923592	single nucleotide variant	NM_030662.4(MAP2K2):c.580+5G>C	RASopathy [RCV002633424]	uncertain significance	19	4101224	4101224	Human	1	name
156406292	CV1963556	single nucleotide variant	NM_030662.4(MAP2K2):c.451-6C>G	RASopathy [RCV002585858]	likely benign\|uncertain significance	19	4102459	4102459	Human	1	name
156314322	CV2031792	single nucleotide variant	NM_030662.4(MAP2K2):c.581-4C>G	RASopathy [RCV002716713]	likely benign	19	4101147	4101147	Human	1	name
156015735	CV2035076	single nucleotide variant	NM_030662.4(MAP2K2):c.581-8G>T	RASopathy [RCV002780393]	likely benign	19	4101151	4101151	Human	1	name
156118172	CV2035708	single nucleotide variant	NM_030662.4(MAP2K2):c.580+8C>T	RASopathy [RCV002785679]	likely benign	19	4101221	4101221	Human	1	name
156228267	CV2088906	single nucleotide variant	NM_030662.4(MAP2K2):c.93-10G>C	RASopathy [RCV002876136]	likely benign	19	4117639	4117639	Human	1	name
156188680	CV2098893	single nucleotide variant	NM_030662.4(MAP2K2):c.985-5C>G	RASopathy [RCV002917375]	likely benign	19	4095454	4095454	Human	1	name
156134414	CV2109399	single nucleotide variant	NM_030662.4(MAP2K2):c.529-7C>G	RASopathy [RCV002914671]	uncertain significance	19	4101287	4101287	Human	1	name
156028488	CV2125303	single nucleotide variant	NM_030662.4(MAP2K2):c.919+9T>G	RASopathy [RCV002949119]	likely benign	19	4099192	4099192	Human	1	name
156366305	CV2130669	single nucleotide variant	NM_030662.4(MAP2K2):c.93-10G>T	RASopathy [RCV002967333]	likely benign	19	4117639	4117639	Human	1	name
156328653	CV2216238	single nucleotide variant	NM_030662.4(MAP2K2):c.450+5G>A	Cardiovascular phenotype [RCV004097198]\|RASopathy [RCV003539463]	uncertain significance	19	4110504	4110504	Human	1	name
11090941	CV231025	single nucleotide variant	NM_030662.4(MAP2K2):c.581-8G>A	Cardiofaciocutaneous syndrome 4 [RCV003741165]\|RASopathy [RCV001442552]\|not provided [RCV001722158]\|not specified [RCV000216682]	benign\|likely benign	19	4101151	4101151	Human	2	name
11546944	CV257129	single nucleotide variant	NM_030662.4(MAP2K2):c.529-5T>C	RASopathy [RCV001487659]\|not specified [RCV000247121]	likely benign\|uncertain significance	19	4101285	4101285	Human	1	name
11642738	CV265077	single nucleotide variant	NM_030662.4(MAP2K2):c.580+5G>A	not provided [RCV000380904]	uncertain significance	19	4101224	4101224	Human		name
401908242	CV2815195	duplication	NM_030662.4(MAP2K2):c.528+1dup	not provided [RCV003423209]	uncertain significance	19	4102374	4102375	Human		name
405160065	CV2868114	deletion	NM_030662.4(MAP2K2):c.93-20del	RASopathy [RCV003539643]	likely benign	19	4117649	4117649	Human	1	name
405162375	CV2869201	single nucleotide variant	NM_030662.4(MAP2K2):c.706-9C>G	RASopathy [RCV003539686]	likely benign	19	4099423	4099423	Human	1	name
405159197	CV2870384	single nucleotide variant	NM_030662.4(MAP2K2):c.920-8C>G	RASopathy [RCV003539605]	likely benign	19	4097351	4097351	Human	1	name
405161340	CV2890764	single nucleotide variant	NM_030662.4(MAP2K2):c.303+6C>T	RASopathy [RCV003540141]	uncertain significance	19	4117413	4117413	Human	1	name
405162602	CV2896671	single nucleotide variant	NM_030662.4(MAP2K2):c.919+7C>T	RASopathy [RCV003540222]	likely benign	19	4099194	4099194	Human	1	name
405163602	CV2911998	single nucleotide variant	NM_030662.4(MAP2K2):c.304-4G>A	RASopathy [RCV003540241]	likely benign	19	4110659	4110659	Human	1	name
405054569	CV2940480	single nucleotide variant	NM_030662.4(MAP2K2):c.92+18A>T	RASopathy [RCV003655456]	likely benign	19	4123766	4123766	Human	1	name
405058137	CV2968898	single nucleotide variant	NM_030662.4(MAP2K2):c.450+8C>T	RASopathy [RCV003655679]	likely benign	19	4110501	4110501	Human	1	name
405060024	CV2981880	single nucleotide variant	NM_030662.4(MAP2K2):c.451-4C>T	RASopathy [RCV003655764]	likely benign	19	4102457	4102457	Human	1	name
405041137	CV3141119	single nucleotide variant	NM_030662.4(MAP2K2):c.450+3G>A	RASopathy [RCV003831412]	uncertain significance	19	4110506	4110506	Human	1	name
405236313	CV3169010	single nucleotide variant	NM_030662.4(MAP2K2):c.92+15G>A	RASopathy [RCV003866289]	likely benign	19	4123769	4123769	Human	1	name
408387281	CV3518788	single nucleotide variant	NM_030662.4(MAP2K2):c.528+5G>T	not provided [RCV004761107]	uncertain significance	19	4102371	4102371	Human		name
597662542	CV3709758	single nucleotide variant	NM_030662.4(MAP2K2):c.304-3C>G	Cardiofaciocutaneous syndrome 4 [RCV005028651]	uncertain significance	19	4110658	4110658	Human	1	name
597864332	CV3742131	single nucleotide variant	NM_030662.4(MAP2K2):c.528+7C>G	RASopathy [RCV005067747]	likely benign	19	4102369	4102369	Human	1	name
597956330	CV3754609	single nucleotide variant	NM_030662.4(MAP2K2):c.985-3C>T	RASopathy [RCV005080459]	uncertain significance	19	4095452	4095452	Human	1	name
597953122	CV3756661	single nucleotide variant	NM_030662.4(MAP2K2):c.580+3A>G	RASopathy [RCV005079719]	uncertain significance	19	4101226	4101226	Human	1	name
12833474	CV379594	single nucleotide variant	NM_030662.4(MAP2K2):c.304-7C>T	RASopathy [RCV001441223]\|not provided [RCV000418571]	likely benign	19	4110662	4110662	Human	1	name
597937626	CV3807884	single nucleotide variant	NM_030662.4(MAP2K2):c.919+1G>A	RASopathy [RCV005158263]	uncertain significance	19	4099200	4099200	Human	1	name
597880875	CV3826445	single nucleotide variant	NM_030662.4(MAP2K2):c.93-15G>T	RASopathy [RCV005178142]	likely benign	19	4117644	4117644	Human	1	name
597895420	CV3833676	single nucleotide variant	NM_030662.4(MAP2K2):c.303+9T>G	RASopathy [RCV005180368]	likely benign	19	4117410	4117410	Human	1	name
597940933	CV3836646	single nucleotide variant	NM_030662.4(MAP2K2):c.93-12G>A	RASopathy [RCV005187667]	likely benign	19	4117641	4117641	Human	1	name
597925898	CV3855290	single nucleotide variant	NM_030662.4(MAP2K2):c.92+11A>G	RASopathy [RCV005205889]	likely benign	19	4123773	4123773	Human	1	name
598124989	CV3883762	single nucleotide variant	NM_030662.4(MAP2K2):c.984+5G>A	not provided [RCV005236117]	uncertain significance	19	4097274	4097274	Human		name
150454060	CV49237	single nucleotide variant	NM_030662.4(MAP2K2):c.92+42G>T	not provided [RCV001612302]	benign	19	4123742	4123742	Human		name
150442875	CV49238	single nucleotide variant	NM_030662.4(MAP2K2):c.92+46G>C	not provided [RCV001679490]	benign	19	4123738	4123738	Human		name
150476247	CV49270	single nucleotide variant	NM_030662.4(MAP2K2):c.451-6C>T	RASopathy [RCV003539397]\|not provided [RCV001672031]	benign\|likely benign	19	4102459	4102459	Human	1	name
8609103	CV49278	single nucleotide variant	NM_030662.4(MAP2K2):c.580+6G>A	Cardiofaciocutaneous syndrome 4 [RCV000625449]\|MAP2K2-related disorder [RCV003891460]\|Noonan syndrome and Noonan-related syndrome [RCV001813314]\|RASopathy [RCV000229923]\|not provided [RCV000443089]\|not specified [RCV000039488]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4101223	4101223	Human	2	name , trait , alternate_id
12845020	CV49304	single nucleotide variant	NM_030662.4(MAP2K2):c.919+4C>T	Cardiofaciocutaneous syndrome 4 [RCV002496506]\|RASopathy [RCV001030072]\|not provided [RCV000588970]\|not specified [RCV001797594]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4099197	4099197	Human	2	name
13529756	CV507041	single nucleotide variant	NM_030662.4(MAP2K2):c.581-9C>T	RASopathy [RCV001480416]\|not specified [RCV000605856]	likely benign\|conflicting interpretations of pathogenicity	19	4101152	4101152	Human	1	name
13527557	CV507049	single nucleotide variant	NM_030662.4(MAP2K2):c.92+11A>C	RASopathy [RCV002529617]\|not specified [RCV000599798]	likely benign	19	4123773	4123773	Human	1	name
14690790	CV621871	single nucleotide variant	NM_030662.4(MAP2K2):c.581-5T>C	RASopathy [RCV002067381]\|not specified [RCV000781518]	likely benign\|uncertain significance	19	4101148	4101148	Human	1	name
15156156	CV690216	single nucleotide variant	NM_030662.4(MAP2K2):c.451-7C>T	MAP2K2-related disorder [RCV003938284]\|RASopathy [RCV002064575]\|not provided [RCV000868178]\|not specified [RCV002307638]	likely benign\|uncertain significance	19	4102460	4102460	Human	2	name , trait , alternate_id
15103906	CV690217	single nucleotide variant	NM_030662.4(MAP2K2):c.450+9G>A	Noonan syndrome and Noonan-related syndrome [RCV001813559]\|RASopathy [RCV001416539]	likely benign	19	4110500	4110500	Human	1	name
34895753	CV917555	single nucleotide variant	NM_030662.4(MAP2K2):c.919+5G>A	Cardio-facio-cutaneous syndrome [RCV005359914]\|RASopathy [RCV005057073]\|not specified [RCV001192910]	uncertain significance	19	4099196	4099196	Human	2	name
34896165	CV917556	single nucleotide variant	NM_030662.4(MAP2K2):c.451-9G>A	RASopathy [RCV005094025]\|not specified [RCV001193486]	likely benign\|uncertain significance	19	4102462	4102462	Human	1	name
150336134	CV1165126	single nucleotide variant	NM_030662.4(MAP2K2):c.529-27C>A	not provided [RCV001530705]	likely benign	19	4101307	4101307	Human		name
150421656	CV1181764	single nucleotide variant	NM_030662.4(MAP2K2):c.303+29G>A	not provided [RCV001552117]	likely benign	19	4117390	4117390	Human		name
150424059	CV1185487	single nucleotide variant	NM_030662.4(MAP2K2):c.450+22G>A	not provided [RCV001556159]	likely benign	19	4110487	4110487	Human		name
150428797	CV1188779	single nucleotide variant	NM_030662.4(MAP2K2):c.528+26C>T	not provided [RCV001562741]	likely benign	19	4102350	4102350	Human		name
150407662	CV1192169	single nucleotide variant	NM_030662.4(MAP2K2):c.304-46G>A	not provided [RCV001565081]	likely benign	19	4110701	4110701	Human		name
150417656	CV1195415	single nucleotide variant	NM_030662.4(MAP2K2):c.450+40C>T	not provided [RCV001568863]	likely benign	19	4110469	4110469	Human		name
150504895	CV1222758	single nucleotide variant	NM_030662.4(MAP2K2):c.450+29C>T	not provided [RCV001621692]	benign	19	4110480	4110480	Human		name
150506857	CV1242316	single nucleotide variant	NM_030662.4(MAP2K2):c.93-242C>A	not provided [RCV001658671]	benign	19	4117871	4117871	Human		name
150455484	CV1246922	single nucleotide variant	NM_030662.4(MAP2K2):c.984+33C>T	not provided [RCV001668690]	benign	19	4097246	4097246	Human		name
150470500	CV1258598	single nucleotide variant	NM_030662.4(MAP2K2):c.919+33C>T	not provided [RCV001684143]	benign	19	4099168	4099168	Human		name
150480766	CV1258788	single nucleotide variant	NM_030662.4(MAP2K2):c.303+46C>G	not provided [RCV001685918]	benign	19	4117373	4117373	Human		name
150470015	CV1259755	single nucleotide variant	NM_030662.4(MAP2K2):c.304-18G>A	RASopathy [RCV001859431]\|not provided [RCV001684056]	benign\|likely benign	19	4110673	4110673	Human	1	name
150446248	CV1261337	single nucleotide variant	NM_030662.4(MAP2K2):c.580+39G>T	not provided [RCV001680011]	benign	19	4101190	4101190	Human		name
150477596	CV1262525	single nucleotide variant	NM_030662.4(MAP2K2):c.451-45G>A	not provided [RCV001685338]	benign	19	4102498	4102498	Human		name
150475885	CV1271256	single nucleotide variant	NM_030662.4(MAP2K2):c.529-49C>G	not provided [RCV001696079]	benign	19	4101329	4101329	Human		name
150443950	CV1277925	single nucleotide variant	NM_030662.4(MAP2K2):c.92+168A>G	not provided [RCV001707068]	benign	19	4123616	4123616	Human		name
150472832	CV1281296	single nucleotide variant	NM_030662.4(MAP2K2):c.92+204G>A	not provided [RCV001713432]	benign	19	4123580	4123580	Human		name
150488239	CV1283977	single nucleotide variant	NM_030662.4(MAP2K2):c.580+31C>T	not provided [RCV001716070]	benign	19	4101198	4101198	Human		name
151759275	CV1340655	single nucleotide variant	NM_030662.4(MAP2K2):c.303+15G>T	RASopathy [RCV001913788]\|not specified [RCV002266059]	benign\|likely benign\|uncertain significance	19	4117404	4117404	Human	1	name
8691893	CV141860	single nucleotide variant	NM_030662.4(MAP2K2):c.529-12G>A	RASopathy [RCV002055665]\|not specified [RCV000126672]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4101292	4101292	Human	1	name
8691896	CV141863	single nucleotide variant	NM_030662.4(MAP2K2):c.705+11G>C	Cardiofaciocutaneous syndrome 4 [RCV003741151]\|RASopathy [RCV002055666]\|not provided [RCV003415934]\|not specified [RCV000154752]	benign	19	4101008	4101008	Human	2	name
8691903	CV141869	single nucleotide variant	NM_030662.4(MAP2K2):c.303+11C>T	RASopathy [RCV002055669]\|not specified [RCV000126684]	benign	19	4117408	4117408	Human	1	name
151866864	CV1447538	single nucleotide variant	NM_030662.4(MAP2K2):c.919+19A>G	RASopathy [RCV001924712]	likely benign\|uncertain significance	19	4099182	4099182	Human	1	name
152092405	CV1530894	single nucleotide variant	NM_030662.4(MAP2K2):c.985-19C>A	Cardiofaciocutaneous syndrome 4 [RCV003120830]\|RASopathy [RCV002114254]\|not specified [RCV003226533]	likely benign\|uncertain significance	19	4095468	4095468	Human	2	name
152070644	CV1535430	single nucleotide variant	NM_030662.4(MAP2K2):c.1046+7G>A	RASopathy [RCV002111401]	likely benign	19	4095381	4095381	Human	1	name
152122414	CV1554928	single nucleotide variant	NM_030662.4(MAP2K2):c.303+17C>T	RASopathy [RCV002198235]	likely benign	19	4117402	4117402	Human	1	name
152130666	CV1567755	single nucleotide variant	NM_030662.4(MAP2K2):c.528+19C>T	RASopathy [RCV002218025]	likely benign	19	4102357	4102357	Human	1	name
152054163	CV1575143	single nucleotide variant	NM_030662.4(MAP2K2):c.303+15G>A	RASopathy [RCV002109336]	likely benign	19	4117404	4117404	Human	1	name
152107453	CV1577902	single nucleotide variant	NM_030662.4(MAP2K2):c.985-14G>A	RASopathy [RCV002096371]	likely benign	19	4095463	4095463	Human	1	name
152156027	CV1589301	single nucleotide variant	NM_030662.4(MAP2K2):c.529-13C>T	RASopathy [RCV002122437]	likely benign	19	4101293	4101293	Human	1	name
152026897	CV1593602	single nucleotide variant	NM_030662.4(MAP2K2):c.528+17C>G	RASopathy [RCV002104711]\|not specified [RCV003235672]	likely benign\|uncertain significance	19	4102359	4102359	Human	1	name
152172602	CV1599192	single nucleotide variant	NM_030662.4(MAP2K2):c.304-19C>T	RASopathy [RCV002143832]	likely benign	19	4110674	4110674	Human	1	name
152045376	CV1600123	single nucleotide variant	NM_030662.4(MAP2K2):c.529-14G>T	RASopathy [RCV002088490]	likely benign	19	4101294	4101294	Human	1	name
152032540	CV1614813	single nucleotide variant	NM_030662.4(MAP2K2):c.451-19C>A	RASopathy [RCV002086599]	likely benign	19	4102472	4102472	Human	1	name
152042039	CV1617985	single nucleotide variant	NM_030662.4(MAP2K2):c.581-13C>T	RASopathy [RCV002206472]	likely benign	19	4101156	4101156	Human	1	name
152047371	CV1627369	single nucleotide variant	NM_030662.4(MAP2K2):c.451-14T>C	RASopathy [RCV002108504]	likely benign	19	4102467	4102467	Human	1	name
152131475	CV1633019	single nucleotide variant	NM_030662.4(MAP2K2):c.529-18C>G	RASopathy [RCV002136976]	likely benign	19	4101298	4101298	Human	1	name
152032962	CV1643220	single nucleotide variant	NM_030662.4(MAP2K2):c.304-15C>G	RASopathy [RCV002205080]	likely benign	19	4110670	4110670	Human	1	name
152085382	CV1646778	single nucleotide variant	NM_030662.4(MAP2K2):c.919+11A>T	RASopathy [RCV002149854]	benign	19	4099190	4099190	Human	1	name
152080559	CV1663661	single nucleotide variant	NM_030662.4(MAP2K2):c.919+19A>C	RASopathy [RCV002149254]	likely benign	19	4099182	4099182	Human	1	name
9689992	CV176172	single nucleotide variant	NM_030662.4(MAP2K2):c.450+13G>A	RASopathy [RCV002056094]\|not specified [RCV000155636]	benign\|likely benign	19	4110496	4110496	Human	1	name
9832797	CV179831	microsatellite	NM_030662.4(MAP2K2):c.-27CCG[3]	RASopathy [RCV000158020]	benign	19	4123891	4123893	Human		name
156020653	CV1903008	single nucleotide variant	NM_030662.4(MAP2K2):c.985-19C>T	RASopathy [RCV003100178]	likely benign	19	4095468	4095468	Human	1	name
156020946	CV1909523	single nucleotide variant	NM_030662.4(MAP2K2):c.705+18C>G	RASopathy [RCV002619390]	likely benign	19	4101001	4101001	Human	1	name
156278354	CV1912014	single nucleotide variant	NM_030662.4(MAP2K2):c.580+18C>T	RASopathy [RCV002628343]	likely benign	19	4101211	4101211	Human	1	name
155941005	CV1913820	single nucleotide variant	NM_030662.4(MAP2K2):c.706-19C>T	RASopathy [RCV002615634]	likely benign	19	4099433	4099433	Human	1	name
156318302	CV2025140	single nucleotide variant	NM_030662.4(MAP2K2):c.580+12C>T	RASopathy [RCV002716930]	likely benign	19	4101217	4101217	Human	1	name
156209894	CV2036805	single nucleotide variant	NM_030662.4(MAP2K2):c.919+16G>A	RASopathy [RCV002790204]	likely benign	19	4099185	4099185	Human	1	name
156129406	CV2037332	single nucleotide variant	NM_030662.4(MAP2K2):c.920-19C>T	RASopathy [RCV002800553]	likely benign	19	4097362	4097362	Human	1	name
155958516	CV2040298	single nucleotide variant	NM_030662.4(MAP2K2):c.920-14C>T	RASopathy [RCV002776144]	likely benign	19	4097357	4097357	Human	1	name
156010859	CV2042991	single nucleotide variant	NM_030662.4(MAP2K2):c.705+20C>G	RASopathy [RCV002756677]	likely benign	19	4100999	4100999	Human	1	name
156042906	CV2071719	single nucleotide variant	NM_030662.4(MAP2K2):c.528+12G>A	RASopathy [RCV002846168]	likely benign	19	4102364	4102364	Human	1	name
156013488	CV2123061	single nucleotide variant	NM_030662.4(MAP2K2):c.450+18A>G	RASopathy [RCV002975774]	likely benign	19	4110491	4110491	Human	1	name
156159851	CV2147275	single nucleotide variant	NM_030662.4(MAP2K2):c.451-11G>A	RASopathy [RCV003023153]	likely benign	19	4102464	4102464	Human	1	name
11093343	CV231024	single nucleotide variant	NM_030662.4(MAP2K2):c.705+11G>A	RASopathy [RCV002057113]\|not specified [RCV000219657]	benign\|likely benign	19	4101008	4101008	Human	1	name
11544593	CV257130	single nucleotide variant	NM_030662.4(MAP2K2):c.529-15C>T	RASopathy [RCV002058363]\|not specified [RCV000243998]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4101295	4101295	Human	1	name
11550465	CV257131	single nucleotide variant	NM_030662.4(MAP2K2):c.528+46C>T	not provided [RCV001689921]\|not specified [RCV000251790]	benign	19	4102330	4102330	Human		name
401964307	CV2843619	single nucleotide variant	NM_030662.4(MAP2K2):c.985-14G>C	RASopathy [RCV003539493]\|not specified [RCV003479962]	likely benign	19	4095463	4095463	Human	1	name
405158789	CV2861483	single nucleotide variant	NM_030662.4(MAP2K2):c.705+19T>C	RASopathy [RCV003539531]	likely benign	19	4101000	4101000	Human	1	name
405159728	CV2874190	single nucleotide variant	NM_030662.4(MAP2K2):c.528+12G>T	RASopathy [RCV003539619]	likely benign	19	4102364	4102364	Human	1	name
405159926	CV2878425	single nucleotide variant	NM_030662.4(MAP2K2):c.1092+7G>A	RASopathy [RCV003539634]	likely benign	19	4094446	4094446	Human	1	name
405159939	CV2878426	single nucleotide variant	NM_030662.4(MAP2K2):c.985-16C>A	RASopathy [RCV003539635]	likely benign	19	4095465	4095465	Human	1	name
405161240	CV2884446	single nucleotide variant	NM_030662.4(MAP2K2):c.303+13G>T	RASopathy [RCV003539718]	likely benign	19	4117406	4117406	Human	1	name
405162312	CV2888635	single nucleotide variant	NM_030662.4(MAP2K2):c.706-11C>T	RASopathy [RCV003540039]	likely benign	19	4099425	4099425	Human	1	name
405162654	CV2907146	single nucleotide variant	NM_030662.4(MAP2K2):c.984+15C>A	RASopathy [RCV003540226]	likely benign	19	4097264	4097264	Human	1	name
405163715	CV2919244	single nucleotide variant	NM_030662.4(MAP2K2):c.706-15C>G	RASopathy [RCV003540273]	likely benign	19	4099429	4099429	Human	1	name
405165753	CV2933404	single nucleotide variant	NM_030662.4(MAP2K2):c.985-15T>C	RASopathy [RCV003540456]	likely benign	19	4095464	4095464	Human	1	name
405050403	CV3060281	single nucleotide variant	NM_030662.4(MAP2K2):c.919+20C>T	RASopathy [RCV003654691]	likely benign	19	4099181	4099181	Human	1	name
405050790	CV3068065	single nucleotide variant	NM_030662.4(MAP2K2):c.705+16C>G	RASopathy [RCV003654720]	likely benign	19	4101003	4101003	Human	1	name
405053037	CV3077703	single nucleotide variant	NM_030662.4(MAP2K2):c.984+12A>T	RASopathy [RCV003654900]	likely benign	19	4097267	4097267	Human	1	name
405088063	CV3122152	single nucleotide variant	NM_030662.4(MAP2K2):c.920-12C>T	RASopathy [RCV003810907]	likely benign	19	4097355	4097355	Human	1	name
405164387	CV3125278	single nucleotide variant	NM_030662.4(MAP2K2):c.920-18A>G	RASopathy [RCV003818550]	likely benign	19	4097361	4097361	Human	1	name
405201216	CV3128886	single nucleotide variant	NM_030662.4(MAP2K2):c.705+11G>T	RASopathy [RCV003821929]	likely benign	19	4101008	4101008	Human	1	name
405212499	CV3142619	single nucleotide variant	NM_030662.4(MAP2K2):c.528+15G>A	RASopathy [RCV003845976]	likely benign	19	4102361	4102361	Human	1	name
405202322	CV3143557	single nucleotide variant	NM_030662.4(MAP2K2):c.304-10C>A	RASopathy [RCV003844543]	likely benign	19	4110665	4110665	Human	1	name
405187731	CV3156549	single nucleotide variant	NM_030662.4(MAP2K2):c.304-11T>C	RASopathy [RCV003859427]	likely benign	19	4110666	4110666	Human	1	name
405254349	CV3175030	single nucleotide variant	NM_030662.4(MAP2K2):c.919+12A>C	RASopathy [RCV003871482]	likely benign	19	4099189	4099189	Human	1	name
402504218	CV3181377	single nucleotide variant	NM_030662.4(MAP2K2):c.985-18C>T	RASopathy [RCV003878210]	likely benign	19	4095467	4095467	Human	1	name
596924388	CV3531129	deletion	NM_030662.3(MAP2K2):c.93_114del	not provided [RCV004779703]	uncertain significance	19	4117608	4117629	Human		name
12741208	CV360422	single nucleotide variant	NM_030662.4(MAP2K2):c.1047-3C>T	not specified [RCV000414419]	uncertain significance	19	4094501	4094501	Human		name
597881987	CV3744978	single nucleotide variant	NM_030662.4(MAP2K2):c.451-11G>C	RASopathy [RCV005070003]	likely benign	19	4102464	4102464	Human	1	name
597945924	CV3755464	single nucleotide variant	NM_030662.4(MAP2K2):c.580+10A>T	RASopathy [RCV005078473]	likely benign	19	4101219	4101219	Human	1	name
597836607	CV3757715	single nucleotide variant	NM_030662.4(MAP2K2):c.920-16C>G	RASopathy [RCV005085729]	likely benign	19	4097359	4097359	Human	1	name
597833761	CV3760424	single nucleotide variant	NM_030662.4(MAP2K2):c.528+10C>T	RASopathy [RCV005085167]	likely benign	19	4102366	4102366	Human	1	name
12841795	CV376555	single nucleotide variant	NM_030662.4(MAP2K2):c.581-20C>T	not provided [RCV000433215]	likely benign	19	4101163	4101163	Human		name
12846323	CV377526	single nucleotide variant	NM_030662.4(MAP2K2):c.919+10G>A	MAP2K2-related disorder [RCV003942338]\|RASopathy [RCV001478102]\|not provided [RCV000441432]\|not specified [RCV001175517]	likely benign\|uncertain significance	19	4099191	4099191	Human	2	name , trait , alternate_id
12839211	CV377528	single nucleotide variant	NM_030662.4(MAP2K2):c.581-19C>T	RASopathy [RCV002059822]\|not provided [RCV000428394]\|not specified [RCV005239005]	benign\|likely benign	19	4101162	4101162	Human	1	name
12841014	CV377530	single nucleotide variant	NM_030662.4(MAP2K2):c.580+15G>A	RASopathy [RCV002061589]\|not provided [RCV000431819]\|not specified [RCV001251291]	benign\|likely benign	19	4101214	4101214	Human	1	name
12842639	CV377684	single nucleotide variant	NM_030662.4(MAP2K2):c.920-17T>A	RASopathy [RCV003539889]\|not provided [RCV000434784]	likely benign	19	4097360	4097360	Human	1	name
12840038	CV377688	single nucleotide variant	NM_030662.4(MAP2K2):c.529-14G>A	RASopathy [RCV002061579]\|not provided [RCV000429940]	likely benign	19	4101294	4101294	Human	1	name
12834685	CV377704	single nucleotide variant	NM_030662.4(MAP2K2):c.528+11C>T	RASopathy [RCV002061429]\|not provided [RCV000420380]\|not specified [RCV001778958]	benign\|likely benign	19	4102365	4102365	Human	1	name
12838407	CV377707	single nucleotide variant	NM_030662.4(MAP2K2):c.450+12C>T	RASopathy [RCV002061427]\|not provided [RCV000426906]	likely benign	19	4110497	4110497	Human	1	name
12839345	CV379590	single nucleotide variant	NM_030662.4(MAP2K2):c.706-17C>T	RASopathy [RCV002521780]\|not provided [RCV000428646]	likely benign	19	4099431	4099431	Human	1	name
12844421	CV379591	single nucleotide variant	NM_030662.4(MAP2K2):c.581-18G>A	RASopathy [RCV002061430]\|not specified [RCV000437961]	benign	19	4101161	4101161	Human	1	name
12845582	CV379592	single nucleotide variant	NM_030662.4(MAP2K2):c.580+14C>T	RASopathy [RCV002061587]\|not provided [RCV000440079]	likely benign	19	4101215	4101215	Human	1	name
12843949	CV379593	single nucleotide variant	NM_030662.4(MAP2K2):c.450+17C>T	Cardiofaciocutaneous syndrome 4 [RCV002502475]\|RASopathy [RCV002061428]\|not provided [RCV000437136]\|not specified [RCV001251389]	benign\|likely benign	19	4110492	4110492	Human	2	name
597971465	CV3802492	single nucleotide variant	NM_030662.4(MAP2K2):c.580+13C>T	RASopathy [RCV005142090]	likely benign	19	4101216	4101216	Human	1	name
597908480	CV3806127	single nucleotide variant	NM_030662.4(MAP2K2):c.581-19C>A	RASopathy [RCV005153885]	likely benign	19	4101162	4101162	Human	1	name
597971236	CV3832771	single nucleotide variant	NM_030662.4(MAP2K2):c.706-20C>T	RASopathy [RCV005166850]	likely benign	19	4099434	4099434	Human	1	name
597882754	CV3834083	single nucleotide variant	NM_030662.4(MAP2K2):c.985-14G>T	RASopathy [RCV005178402]	likely benign	19	4095463	4095463	Human	1	name
597902307	CV3845467	single nucleotide variant	NM_030662.4(MAP2K2):c.705+14G>A	RASopathy [RCV005181277]	likely benign	19	4101005	4101005	Human	1	name
597903308	CV3845924	single nucleotide variant	NM_030662.4(MAP2K2):c.528+19C>G	RASopathy [RCV005181546]	likely benign	19	4102357	4102357	Human	1	name
597856638	CV3849748	single nucleotide variant	NM_030662.4(MAP2K2):c.304-18G>T	RASopathy [RCV005195257]	likely benign	19	4110673	4110673	Human	1	name
597938373	CV3852710	single nucleotide variant	NM_030662.4(MAP2K2):c.1093-8C>T	RASopathy [RCV005187109]	likely benign	19	4090716	4090716	Human	1	name
12899631	CV410612	duplication	NM_030662.4(MAP2K2):c.1047-2dup	not provided [RCV000480641]	likely benign\|uncertain significance	19	4094499	4094500	Human		name
12901626	CV410618	deletion	NM_030662.4(MAP2K2):c.303+15del	RASopathy [RCV002526626]\|not provided [RCV000485158]	benign\|likely benign	19	4117404	4117404	Human	1	name
11542368	CV49259	single nucleotide variant	NM_030662.4(MAP2K2):c.303+18G>A	Cardiofaciocutaneous syndrome 4 [RCV001001924]\|RASopathy [RCV002054548]\|not provided [RCV001675588]\|not specified [RCV000251005]	benign	19	4117401	4117401	Human	2	name
8609098	CV49264	single nucleotide variant	NM_030662.4(MAP2K2):c.450+15G>T	RASopathy [RCV002054549]\|not provided [RCV001642534]\|not specified [RCV000039483]	benign	19	4110494	4110494	Human	1	name
150491153	CV49266	single nucleotide variant	NM_030662.4(MAP2K2):c.451-79C>T	not provided [RCV001618771]	benign	19	4102532	4102532	Human		name
150439356	CV49267	single nucleotide variant	NM_030662.4(MAP2K2):c.451-69G>C	not provided [RCV001609991]	benign	19	4102522	4102522	Human		name
150514080	CV49268	single nucleotide variant	NM_030662.4(MAP2K2):c.451-44G>A	not provided [RCV001598890]	benign	19	4102497	4102497	Human		name
150462328	CV49269	single nucleotide variant	NM_030662.4(MAP2K2):c.451-15T>G	not provided [RCV001710009]	benign	19	4102468	4102468	Human		name
11542312	CV49274	single nucleotide variant	NM_030662.4(MAP2K2):c.528+20A>G	RASopathy [RCV002054550]\|not provided [RCV001711144]\|not specified [RCV000246991]	benign	19	4102356	4102356	Human	1	name
150471737	CV49275	single nucleotide variant	NM_030662.4(MAP2K2):c.529-26G>A	not provided [RCV001713247]	benign	19	4101306	4101306	Human		name
150472780	CV49276	single nucleotide variant	NM_030662.4(MAP2K2):c.529-11C>A	not provided [RCV001671501]	benign	19	4101291	4101291	Human		name
150434387	CV49279	single nucleotide variant	NM_030662.4(MAP2K2):c.581-29G>A	not provided [RCV001643722]	benign	19	4101172	4101172	Human		name
150488938	CV49289	single nucleotide variant	NM_030662.4(MAP2K2):c.706-81G>A	not provided [RCV001674421]	benign	19	4099495	4099495	Human		name
150446362	CV49290	single nucleotide variant	NM_030662.4(MAP2K2):c.706-72C>T	not provided [RCV001667160]	benign	19	4099486	4099486	Human		name
150492572	CV49291	single nucleotide variant	NM_030662.4(MAP2K2):c.706-38C>T	not provided [RCV001619016]	benign	19	4099452	4099452	Human		name
150471745	CV49292	single nucleotide variant	NM_030662.4(MAP2K2):c.706-35C>G	not provided [RCV001713248]	benign	19	4099449	4099449	Human		name
8609112	CV49305	single nucleotide variant	NM_030662.4(MAP2K2):c.919+12A>G	Cardiofaciocutaneous syndrome 4 [RCV000603060]\|RASopathy [RCV002054551]\|not provided [RCV000509309]\|not specified [RCV000039497]	benign\|not provided	19	4099189	4099189	Human	2	name
150445224	CV49306	single nucleotide variant	NM_030662.4(MAP2K2):c.919+31G>C	not provided [RCV001691088]	benign	19	4099170	4099170	Human		name
150510452	CV49307	single nucleotide variant	NM_030662.4(MAP2K2):c.919+37C>T	not provided [RCV001597588]	benign	19	4099164	4099164	Human		name
150471747	CV49308	single nucleotide variant	NM_030662.4(MAP2K2):c.920-24A>G	not provided [RCV001713249]	benign	19	4097367	4097367	Human		name
13536870	CV497520	single nucleotide variant	NM_030662.4(MAP2K2):c.1046+4G>A	RASopathy [RCV005091590]\|not specified [RCV000609600]	uncertain significance	19	4095384	4095384	Human	1	name
13526999	CV507044	single nucleotide variant	NM_030662.4(MAP2K2):c.450+20G>A	RASopathy [RCV002065204]\|not specified [RCV000604871]	likely benign	19	4110489	4110489	Human	1	name
13536656	CV507386	single nucleotide variant	NM_030662.4(MAP2K2):c.581-11G>A	not specified [RCV000609314]	likely benign	19	4101154	4101154	Human		name
13533643	CV507388	single nucleotide variant	NM_030662.4(MAP2K2):c.529-10T>C	not specified [RCV000607156]	likely benign\|conflicting interpretations of pathogenicity	19	4101290	4101290	Human		name
13796612	CV553041	single nucleotide variant	NM_030662.4(MAP2K2):c.450+99A>G	not provided [RCV000680664]	benign	19	4110410	4110410	Human		name
13797606	CV553044	single nucleotide variant	NM_030662.4(MAP2K2):c.92+266G>A	not provided [RCV000681336]	likely benign	19	4123518	4123518	Human		name
8609083	CV55390	microsatellite	NM_030662.4(MAP2K2):c.-27CCG[6]	not specified [RCV000039468]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4123890	4123891	Human		name
8609086	CV55393	single nucleotide variant	NM_030662.4(MAP2K2):c.1093-6T>C	Cardiofaciocutaneous syndrome 4 [RCV003741149]\|RASopathy [RCV000463260]\|not provided [RCV000590120]\|not specified [RCV000039471]	benign\|likely benign	19	4090714	4090714	Human	2	name
8609093	CV55398	single nucleotide variant	NM_030662.4(MAP2K2):c.303+12G>A	RASopathy [RCV002054765]\|not specified [RCV000039478]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4117407	4117407	Human	1	name
8609097	CV55401	single nucleotide variant	NM_030662.4(MAP2K2):c.450+14G>A	RASopathy [RCV002054766]\|not specified [RCV000039482]	likely benign\|conflicting interpretations of pathogenicity	19	4110495	4110495	Human	1	name
8609107	CV55406	single nucleotide variant	NM_030662.4(MAP2K2):c.705+10C>T	RASopathy [RCV002054767]\|not provided [RCV000680363]\|not specified [RCV000039492]	likely benign	19	4101009	4101009	Human	1	name
15131693	CV685459	single nucleotide variant	NM_030662.4(MAP2K2):c.581-10C>T	RASopathy [RCV001421050]	likely benign	19	4101153	4101153	Human	1	name
38598306	CV963305	single nucleotide variant	NM_030662.4(MAP2K2):c.705+15G>A	not specified [RCV001251319]	uncertain significance	19	4101004	4101004	Human		name
40903243	CV975839	single nucleotide variant	NM_030662.4(MAP2K2):c.1047-6C>A	not specified [RCV001269160]	uncertain significance	19	4094504	4094504	Human		name
150421397	CV1199129	single nucleotide variant	NM_030662.4(MAP2K2):c.1047-31G>A	not provided [RCV001578020]	likely benign	19	4094529	4094529	Human		name
150506500	CV1212222	single nucleotide variant	NM_030662.4(MAP2K2):c.304-127G>A	not provided [RCV001596053]	likely benign	19	4110782	4110782	Human		name
150462943	CV1214716	single nucleotide variant	NM_030662.4(MAP2K2):c.528+118A>G	not provided [RCV001613709]	benign	19	4102258	4102258	Human		name
150472659	CV1235095	deletion	NM_030662.4(MAP2K2):c.984+251del	not provided [RCV001651464]	benign	19	4097028	4097028	Human		name
150473094	CV1235169	single nucleotide variant	NM_030662.4(MAP2K2):c.451-172A>G	not provided [RCV001651538]	benign	19	4102625	4102625	Human		name
150464542	CV1241316	single nucleotide variant	NM_030662.4(MAP2K2):c.450+189C>G	not provided [RCV001649827]	benign	19	4110320	4110320	Human		name
150468576	CV1259517	single nucleotide variant	NM_030662.4(MAP2K2):c.303+118C>G	not provided [RCV001683817]	benign	19	4117301	4117301	Human		name
150451404	CV1260254	duplication	NM_030662.4(MAP2K2):c.984+235dup	not provided [RCV001680744]	benign	19	4097027	4097028	Human		name
150440907	CV1265476	single nucleotide variant	NM_030662.4(MAP2K2):c.984+307C>T	not provided [RCV001679179]	benign	19	4096972	4096972	Human		name
151750940	CV1415847	single nucleotide variant	NM_030662.4(MAP2K2):c.1092+15C>T	RASopathy [RCV001927513]	likely benign\|uncertain significance	19	4094438	4094438	Human	1	name
8691899	CV141866	single nucleotide variant	NM_030662.4(MAP2K2):c.1046+13G>A	RASopathy [RCV002055667]\|not specified [RCV000126680]	benign\|likely benign	19	4095375	4095375	Human	1	name
151844611	CV1457861	single nucleotide variant	NM_030662.4(MAP2K2):c.1093-19G>A	RASopathy [RCV001936537]	likely benign\|uncertain significance	19	4090727	4090727	Human	1	name
152107862	CV1579626	single nucleotide variant	NM_030662.4(MAP2K2):c.1092+16G>A	RASopathy [RCV002173954]	likely benign	19	4094437	4094437	Human	1	name
152034629	CV1634967	single nucleotide variant	NM_030662.4(MAP2K2):c.1093-19G>T	RASopathy [RCV002087003]	likely benign	19	4090727	4090727	Human	1	name
152129662	CV1650621	single nucleotide variant	NM_030662.4(MAP2K2):c.1092+14G>T	RASopathy [RCV002118912]	likely benign	19	4094439	4094439	Human	1	name
155954370	CV1936251	single nucleotide variant	NM_030662.4(MAP2K2):c.706-350C>T	not provided [RCV002511912]	benign\|likely benign	19	4099764	4099764	Human		name
156115617	CV2084919	single nucleotide variant	NM_030662.4(MAP2K2):c.1093-16T>C	RASopathy [RCV002889358]	likely benign	19	4090724	4090724	Human	1	name
405050243	CV3053939	single nucleotide variant	NM_030662.4(MAP2K2):c.1046+12C>T	RASopathy [RCV003654598]	likely benign	19	4095376	4095376	Human	1	name
405249633	CV3170037	single nucleotide variant	NM_030662.4(MAP2K2):c.1047-20C>T	RASopathy [RCV003869666]	likely benign	19	4094518	4094518	Human	1	name
597913301	CV3806660	single nucleotide variant	NM_030662.4(MAP2K2):c.1046+14G>C	RASopathy [RCV005154227]	likely benign	19	4095374	4095374	Human	1	name
597915380	CV3833813	single nucleotide variant	NM_030662.4(MAP2K2):c.1093-13C>T	RASopathy [RCV005183172]	likely benign	19	4090721	4090721	Human	1	name
597929870	CV3837466	single nucleotide variant	NM_030662.4(MAP2K2):c.1046+10G>A	RASopathy [RCV005185624]	likely benign	19	4095378	4095378	Human	1	name
597905651	CV3846581	single nucleotide variant	NM_030662.4(MAP2K2):c.1093-20C>T	RASopathy [RCV005182008]	likely benign	19	4090728	4090728	Human	1	name
150438719	CV49265	single nucleotide variant	NM_030662.4(MAP2K2):c.451-135C>T	not provided [RCV001665984]	benign	19	4102588	4102588	Human		name
13525012	CV507825	single nucleotide variant	NM_030662.4(MAP2K2):c.1046+16C>A	RASopathy [RCV002062865]\|not specified [RCV000602572]	likely benign	19	4095372	4095372	Human	1	name
13796773	CV553032	single nucleotide variant	NM_030662.4(MAP2K2):c.985-150C>G	not provided [RCV000680746]	benign	19	4095599	4095599	Human		name
13797475	CV553033	single nucleotide variant	NM_030662.4(MAP2K2):c.919+252C>T	not provided [RCV000681247]	benign	19	4098949	4098949	Human		name
13796748	CV553034	single nucleotide variant	NM_030662.4(MAP2K2):c.705+179T>C	not provided [RCV000680733]	benign	19	4100840	4100840	Human		name
13796642	CV553035	single nucleotide variant	NM_030662.4(MAP2K2):c.705+128C>T	not provided [RCV000680679]	likely benign	19	4100891	4100891	Human		name
13796745	CV553037	single nucleotide variant	NM_030662.4(MAP2K2):c.529-138G>A	not provided [RCV000680731]	benign	19	4101418	4101418	Human		name
13796889	CV553038	single nucleotide variant	NM_030662.4(MAP2K2):c.528+242T>G	not provided [RCV000680864]	benign	19	4102134	4102134	Human		name
13797094	CV553039	single nucleotide variant	NM_030662.4(MAP2K2):c.528+237T>C	not provided [RCV000680960]	benign	19	4102139	4102139	Human		name
13797599	CV553040	single nucleotide variant	NM_030662.4(MAP2K2):c.450+307C>A	not provided [RCV000681334]	likely benign	19	4110202	4110202	Human		name
13796567	CV553042	single nucleotide variant	NM_030662.4(MAP2K2):c.303+127A>G	not provided [RCV000680656]	benign	19	4117292	4117292	Human		name
150425174	CV1185486	single nucleotide variant	NM_030662.4(MAP2K2):c.1093-128G>A	not provided [RCV001557658]	likely benign	19	4090836	4090836	Human		name
150426303	CV1188777	single nucleotide variant	NM_030662.4(MAP2K2):c.1092+127G>A	not provided [RCV001559399]	likely benign	19	4094326	4094326	Human		name
152107365	CV1605264	single nucleotide variant	NM_030662.4(MAP2K2):c.1092+341C>A	RASopathy [RCV002196328]	benign	19	4094112	4094112	Human	1	name
155641627	CV1709875	single nucleotide variant	NM_030662.4(MAP2K2):c.1047-391C>T	not provided [RCV002292975]	benign\|likely benign	19	4094889	4094889	Human		name
401908241	CV2815194	single nucleotide variant	NM_030662.4(MAP2K2):c.1047-366G>T	not provided [RCV003423208]	benign	19	4094864	4094864	Human		name
405161018	CV2883322	microsatellite	NM_030662.4(MAP2K2):c.920-17TC[3]	RASopathy [RCV003540115]	likely benign	19	4097353	4097354	Human		name
13797747	CV553025	single nucleotide variant	NM_030662.4(MAP2K2):c.1093-273C>T	not provided [RCV000681401]	likely benign	19	4090981	4090981	Human		name
13796767	CV553027	single nucleotide variant	NM_030662.4(MAP2K2):c.1047-212G>A	not provided [RCV000680742]	likely benign	19	4094710	4094710	Human		name
13797477	CV553028	single nucleotide variant	NM_030662.4(MAP2K2):c.1047-279C>T	not provided [RCV000681248]	benign	19	4094777	4094777	Human		name
13797697	CV553029	deletion	NM_030662.4(MAP2K2):c.1046+303del	not provided [RCV000681375]	likely benign	19	4095085	4095085	Human		name
13796785	CV553030	single nucleotide variant	NM_030662.4(MAP2K2):c.1046+200C>T	not provided [RCV000680753]	likely benign	19	4095188	4095188	Human		name
156108925	CV2108145	deletion	NM_030662.4(MAP2K2):c.578_580+9del	RASopathy [RCV002927340]	uncertain significance	19	4101220	4101231	Human	1	name
156371758	CV1993532	single nucleotide variant	NM_030662.4(MAP2K2):c.4C>T (p.Leu2=)	RASopathy [RCV002652956]	likely benign	19	4123872	4123872	Human	1	name
15122316	CV695823	microsatellite	NM_030662.4(MAP2K2):c.985-7_985-5del	RASopathy [RCV000874392]\|not specified [RCV001824901]	likely benign\|uncertain significance	19	4095454	4095456	Human		name
405164002	CV2921008	single nucleotide variant	NM_030662.4(MAP2K2):c.21G>A (p.Pro7=)	RASopathy [RCV003540333]	likely benign	19	4123855	4123855	Human	1	name
597905913	CV3846631	single nucleotide variant	NM_030662.4(MAP2K2):c.12G>A (p.Arg4=)	RASopathy [RCV005182058]	likely benign	19	4123864	4123864	Human	1	name
150516623	CV1227155	deletion	NM_030662.4(MAP2K2):c.92+152_92+178del	not provided [RCV001639253]	benign	19	4123606	4123632	Human		name
152157709	CV1541836	deletion	NM_030662.4(MAP2K2):c.706-15_706-14del	RASopathy [RCV002103194]	likely benign	19	4099428	4099429	Human	1	name
152111408	CV1552419	single nucleotide variant	NM_030662.4(MAP2K2):c.66A>G (p.Pro22=)	Cardiovascular phenotype [RCV004990710]\|RASopathy [RCV002134532]	likely benign	19	4123810	4123810	Human	1	name
152155962	CV1561066	single nucleotide variant	NM_030662.4(MAP2K2):c.30G>A (p.Pro10=)	RASopathy [RCV002102943]	likely benign	19	4123846	4123846	Human	1	name
155727004	CV1822376	single nucleotide variant	NM_030662.4(MAP2K2):c.69C>T (p.Ser23=)	Cardiovascular phenotype [RCV002364745]	likely benign	19	4123807	4123807	Human		name
405162034	CV2906387	inversion	NM_030662.4(MAP2K2):c.528+19_528+20inv	RASopathy [RCV003540198]	uncertain significance	19	4102356	4102357	Human		name
405060882	CV3007988	single nucleotide variant	NM_030662.4(MAP2K2):c.30G>C (p.Pro10=)	RASopathy [RCV003655930]	likely benign	19	4123846	4123846	Human	1	name
405084771	CV3167278	microsatellite	NM_030662.4(MAP2K2):c.451-20_451-17del	RASopathy [RCV003851859]	likely benign	19	4102470	4102473	Human		name
405683301	CV3387825	single nucleotide variant	NM_030662.4(MAP2K2):c.54C>T (p.Ile18=)	Cardiovascular phenotype [RCV004517800]	likely benign	19	4123822	4123822	Human		name
596945295	CV3547809	single nucleotide variant	NM_030662.4(MAP2K2):c.84C>A (p.Gly28=)	not provided [RCV004809140]	likely benign	19	4123792	4123792	Human		name
597729924	CV3699989	single nucleotide variant	NM_030662.4(MAP2K2):c.48T>C (p.Pro16=)	Cardiovascular phenotype [RCV004995638]	likely benign	19	4123828	4123828	Human		name
12840828	CV377537	single nucleotide variant	NM_030662.4(MAP2K2):c.42C>T (p.Ile14=)	not provided [RCV000431447]\|not specified [RCV001193492]	likely benign	19	4123834	4123834	Human		name
12888926	CV403730	single nucleotide variant	NM_030662.4(MAP2K2):c.39C>T (p.Thr13=)	Cardiovascular phenotype [RCV003168916]\|RASopathy [RCV000471846]\|not provided [RCV002225631]\|not specified [RCV000586167]	likely benign\|uncertain significance	19	4123837	4123837	Human	1	name
13477613	CV442542	single nucleotide variant	NM_030662.4(MAP2K2):c.45C>T (p.Asn15=)	RASopathy [RCV000520444]	likely benign	19	4123831	4123831	Human	1	name
8691900	CV49233	single nucleotide variant	NM_030662.3(MAP2K2):c.8C>T (p.Ala3Val)	not provided [RCV000126681]	benign	19	4123868	4123868	Human		name
9832814	CV49234	deletion	NM_030662.4(MAP2K2):c.22del (p.Val8fs)	RASopathy [RCV000158044]	uncertain significance	19	4123854	4123854	Human	1	name
13626547	CV533121	single nucleotide variant	NM_030662.4(MAP2K2):c.96A>G (p.Ala32=)	RASopathy [RCV000654994]	likely benign	19	4117626	4117626	Human	1	name
13796794	CV553045	microsatellite	NM_030662.4(MAP2K2):c.92+212_92+237del	not provided [RCV000680758]	benign	19	4123547	4123572	Human		name
14699183	CV624658	single nucleotide variant	NM_030662.4(MAP2K2):c.7G>T (p.Ala3Ser)	Cardiofaciocutaneous syndrome 4 [RCV005029451]\|not provided [RCV000788439]	uncertain significance	19	4123869	4123869	Human	1	name
8611990	CV65596	single nucleotide variant	NM_030662.4(MAP2K2):c.33G>A (p.Ala11=)	Cardiovascular phenotype [RCV002453344]\|RASopathy [RCV000655007]\|not specified [RCV000043640]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4123843	4123843	Human	1	name
127235102	CV1084747	single nucleotide variant	NM_030662.4(MAP2K2):c.282G>A (p.Ser94=)	Cardiovascular phenotype [RCV002438963]\|RASopathy [RCV001414356]	likely benign	19	4117440	4117440	Human	1	name
127235819	CV1106530	single nucleotide variant	NM_030662.4(MAP2K2):c.186C>T (p.Ala62=)	RASopathy [RCV001433194]	likely benign	19	4117536	4117536	Human	1	name
150453093	CV1205606	deletion	NM_030662.4(MAP2K2):c.303+92_303+128del	not provided [RCV001585507]	likely benign	19	4117291	4117327	Human		name
151352164	CV1325121	single nucleotide variant	NM_030662.4(MAP2K2):c.237C>T (p.Gly79=)	Cardiovascular phenotype [RCV002458621]\|Noonan syndrome and Noonan-related syndrome [RCV001813677]\|RASopathy [RCV002542453]\|not provided [RCV005428429]	likely benign\|uncertain significance	19	4117485	4117485	Human	1	name
151352165	CV1325122	single nucleotide variant	NM_030662.4(MAP2K2):c.102G>C (p.Leu34=)	Noonan syndrome and Noonan-related syndrome [RCV001813678]\|RASopathy [RCV005095228]	likely benign\|uncertain significance	19	4117620	4117620	Human	1	name
152106521	CV1577629	single nucleotide variant	NM_030662.4(MAP2K2):c.160C>T (p.Leu54=)	RASopathy [RCV002096243]	likely benign	19	4117562	4117562	Human	1	name
152135736	CV1624583	single nucleotide variant	NM_030662.4(MAP2K2):c.291C>T (p.Ile97=)	RASopathy [RCV002177393]	likely benign	19	4117431	4117431	Human	1	name
152047885	CV1627457	single nucleotide variant	NM_030662.4(MAP2K2):c.216C>T (p.Phe72=)	Cardiovascular phenotype [RCV005375053]\|RASopathy [RCV002108564]	likely benign	19	4117506	4117506	Human	1	name
9832820	CV179829	deletion	NM_030662.4(MAP2K2):c.71del (p.Pro24fs)	RASopathy [RCV000158050]	uncertain significance	19	4123805	4123805	Human	1	name
9832819	CV179830	single nucleotide variant	NM_030662.4(MAP2K2):c.10C>T (p.Arg4Trp)	not provided [RCV000158049]	uncertain significance	19	4123866	4123866	Human		name
155722314	CV1831323	single nucleotide variant	NM_030662.4(MAP2K2):c.171T>C (p.Phe57=)	Cardiovascular phenotype [RCV002399052]	likely benign	19	4117551	4117551	Human		name
156156603	CV1931577	single nucleotide variant	NM_030662.4(MAP2K2):c.279C>G (p.Pro93=)	RASopathy [RCV002664087]	likely benign	19	4117443	4117443	Human	1	name
156437000	CV1936824	single nucleotide variant	NM_030662.4(MAP2K2):c.168C>G (p.Ala56=)	RASopathy [RCV003106527]	likely benign	19	4117554	4117554	Human	1	name
156162543	CV2070619	single nucleotide variant	NM_030662.4(MAP2K2):c.17A>G (p.Lys6Arg)	RASopathy [RCV002851265]	uncertain significance	19	4123859	4123859	Human	1	name
156027011	CV2108839	single nucleotide variant	NM_030662.4(MAP2K2):c.150G>A (p.Gln50=)	RASopathy [RCV002909888]	likely benign	19	4117572	4117572	Human	1	name
11092388	CV231027	single nucleotide variant	NM_030662.4(MAP2K2):c.174C>T (p.Leu58=)	RASopathy [RCV002517479]\|not specified [RCV000218473]	likely benign	19	4117548	4117548	Human	1	name
401766350	CV2732259	single nucleotide variant	NM_030662.4(MAP2K2):c.232C>T (p.Leu78=)	Cardiovascular phenotype [RCV003301797]	likely benign	19	4117490	4117490	Human		name
405057280	CV2964084	single nucleotide variant	NM_030662.4(MAP2K2):c.255G>A (p.Val85=)	RASopathy [RCV003655643]	likely benign	19	4117467	4117467	Human	1	name
405060643	CV2993673	single nucleotide variant	NM_030662.4(MAP2K2):c.234G>A (p.Leu78=)	RASopathy [RCV003655911]	likely benign	19	4117488	4117488	Human	1	name
405062410	CV3025207	single nucleotide variant	NM_030662.4(MAP2K2):c.162G>A (p.Leu54=)	RASopathy [RCV003656052]	likely benign	19	4117560	4117560	Human	1	name
405050232	CV3046382	single nucleotide variant	NM_030662.4(MAP2K2):c.165A>G (p.Glu55=)	RASopathy [RCV003654578]	likely benign	19	4117557	4117557	Human	1	name
402511766	CV3178302	single nucleotide variant	NM_030662.4(MAP2K2):c.183A>G (p.Lys61=)	RASopathy [RCV003878919]	likely benign	19	4117539	4117539	Human	1	name
405268460	CV3187046	single nucleotide variant	NM_030662.4(MAP2K2):c.288C>T (p.Leu96=)	not provided [RCV003887129]	likely benign	19	4117434	4117434	Human		name
12845697	CV377711	single nucleotide variant	NM_030662.4(MAP2K2):c.240G>A (p.Ala80=)	Cardiovascular phenotype [RCV002446659]\|MAP2K2-related disorder [RCV003922721]\|RASopathy [RCV000523706]\|not provided [RCV000590354]	benign\|likely benign	19	4117482	4117482	Human	2	name , trait , alternate_id
597889340	CV3804820	single nucleotide variant	NM_030662.4(MAP2K2):c.237C>G (p.Gly79=)	RASopathy [RCV005151082]	likely benign	19	4117485	4117485	Human	1	name
12887979	CV403261	single nucleotide variant	NM_030662.4(MAP2K2):c.279C>T (p.Pro93=)	RASopathy [RCV001426020]	likely benign	19	4117443	4117443	Human	1	name
13504511	CV442540	single nucleotide variant	NM_030662.4(MAP2K2):c.225C>T (p.Ile75=)	Cardiovascular phenotype [RCV002448566]\|MAP2K2-related disorder [RCV003960232]\|RASopathy [RCV000520281]\|not provided [RCV004584737]\|not specified [RCV003387865]	benign\|likely benign	19	4117497	4117497	Human	2	name , trait , alternate_id
13489457	CV442541	single nucleotide variant	NM_030662.4(MAP2K2):c.141C>T (p.Asp47=)	Cardiovascular phenotype [RCV002395242]\|Noonan syndrome and Noonan-related syndrome [RCV001813495]\|RASopathy [RCV000523895]\|not provided [RCV001637063]	benign\|likely benign	19	4117581	4117581	Human	1	name
13481140	CV442543	single nucleotide variant	NM_030662.3(MAP2K2):c.14G>A (p.Arg5Lys)	Rasopathy [RCV000521428]	benign	19	4123862	4123862	Human		name
13466686	CV468821	single nucleotide variant	NM_030662.4(MAP2K2):c.207C>T (p.Asp69=)	Cardiovascular phenotype [RCV002420542]\|RASopathy [RCV000552205]\|not provided [RCV001556214]\|not specified [RCV000588692]	likely benign\|uncertain significance	19	4117515	4117515	Human	1	name
13813739	CV49235	single nucleotide variant	NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro)	Cardiovascular phenotype [RCV002426539]\|Noonan syndrome [RCV000824941]\|RASopathy [RCV000704590]\|not specified [RCV001251263]	uncertain significance	19	4123850	4123850	Human	2	name
8609088	CV49240	single nucleotide variant	NM_030662.4(MAP2K2):c.192C>T (p.Val64=)	Cardiofaciocutaneous syndrome 4 [RCV000999991]\|Cardiovascular phenotype [RCV002408500]\|RASopathy [RCV000473659]\|not provided [RCV004716914]\|not specified [RCV000039473]	benign	19	4117530	4117530	Human	2	name
13482806	CV49257	single nucleotide variant	NM_030662.4(MAP2K2):c.291C>A (p.Ile97=)	Cardiovascular phenotype [RCV002433490]\|Noonan syndrome and Noonan-related syndrome [RCV001813311]\|RASopathy [RCV000521884]\|not provided [RCV001668150]	benign\|likely benign	19	4117431	4117431	Human	1	name
13529425	CV506834	single nucleotide variant	NM_030662.4(MAP2K2):c.168C>T (p.Ala56=)	RASopathy [RCV002528536]\|not specified [RCV000600305]	likely benign	19	4117554	4117554	Human	1	name
13525249	CV507401	single nucleotide variant	NM_030662.4(MAP2K2):c.258C>T (p.Val86=)	RASopathy [RCV005091663]\|not specified [RCV000602906]	likely benign	19	4117464	4117464	Human	1	name
8609089	CV55394	single nucleotide variant	NM_030662.4(MAP2K2):c.246C>T (p.Asn82=)	Cardiovascular phenotype [RCV002453321]\|RASopathy [RCV002054764]\|not specified [RCV000039474]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4117476	4117476	Human	1	name
8609090	CV55395	single nucleotide variant	NM_030662.4(MAP2K2):c.258C>A (p.Val86=)	Cardiofaciocutaneous syndrome 4 [RCV003741150]\|Cardiovascular phenotype [RCV002453322]\|RASopathy [RCV001078949]\|not provided [RCV000680292]\|not specified [RCV000039475]	pathogenic\|likely pathogenic\|benign\|likely benign	19	4117464	4117464	Human	2	name
14732452	CV648138	single nucleotide variant	NM_030662.4(MAP2K2):c.195C>T (p.Gly65=)	RASopathy [RCV000801847]	likely benign\|uncertain significance	19	4117527	4117527	Human	1	name
14703083	CV653050	indel	NM_030662.4(MAP2K2):c.706-1_706delinsTT	Cardiofaciocutaneous syndrome 4 [RCV005021230]\|RASopathy [RCV000811084]\|not provided [RCV004777887]\|not specified [RCV000825042]	uncertain significance	19	4099414	4099415	Human		name
15149361	CV757039	single nucleotide variant	NM_030662.4(MAP2K2):c.228A>C (p.Ser76=)	not provided [RCV000923272]	likely benign	19	4117494	4117494	Human		name
38496846	CV958644	single nucleotide variant	NM_030662.4(MAP2K2):c.249C>T (p.Gly83=)	RASopathy [RCV001242818]	likely benign\|uncertain significance	19	4117473	4117473	Human	1	name
126913064	CV1038721	single nucleotide variant	NM_030662.4(MAP2K2):c.52A>T (p.Ile18Phe)	not provided [RCV001357033]	uncertain significance	19	4123824	4123824	Human		name
126919746	CV1051330	single nucleotide variant	NM_030662.4(MAP2K2):c.351C>T (p.Arg117=)	RASopathy [RCV001373409]	likely benign\|uncertain significance	19	4110608	4110608	Human	1	name
127236605	CV1084741	single nucleotide variant	NM_030662.4(MAP2K2):c.912C>A (p.Pro304=)	RASopathy [RCV001396927]	likely benign	19	4099208	4099208	Human	1	name
127279930	CV1084743	single nucleotide variant	NM_030662.4(MAP2K2):c.786C>T (p.Val262=)	Cardiovascular phenotype [RCV002413971]\|RASopathy [RCV001409415]	likely benign	19	4099334	4099334	Human	1	name
127247665	CV1084744	single nucleotide variant	NM_030662.4(MAP2K2):c.570C>T (p.Ile190=)	RASopathy [RCV001394299]	likely benign	19	4101239	4101239	Human	1	name
127249602	CV1084745	single nucleotide variant	NM_030662.4(MAP2K2):c.546G>C (p.Ala182=)	Cardiovascular phenotype [RCV002350760]\|RASopathy [RCV001399633]	likely benign	19	4101263	4101263	Human	1	name
127248037	CV1084746	single nucleotide variant	NM_030662.4(MAP2K2):c.447C>T (p.His149=)	RASopathy [RCV001394365]	likely benign	19	4110512	4110512	Human	1	name
127277540	CV1106527	single nucleotide variant	NM_030662.4(MAP2K2):c.696C>T (p.Ser232=)	RASopathy [RCV001444476]\|not provided [RCV003426101]	likely benign	19	4101028	4101028	Human	1	name
127278194	CV1106529	single nucleotide variant	NM_030662.4(MAP2K2):c.423G>A (p.Gly141=)	Cardiovascular phenotype [RCV002329503]\|RASopathy [RCV001444887]	likely benign	19	4110536	4110536	Human	1	name
127290049	CV1148866	single nucleotide variant	NM_030662.4(MAP2K2):c.903C>G (p.Pro301=)	RASopathy [RCV001495863]	likely benign	19	4099217	4099217	Human	1	name
127312045	CV1148867	single nucleotide variant	NM_030662.4(MAP2K2):c.885G>A (p.Ser295=)	Cardiovascular phenotype [RCV003284356]\|RASopathy [RCV001501794]	likely benign	19	4099235	4099235	Human	1	name
127318210	CV1148868	single nucleotide variant	NM_030662.4(MAP2K2):c.744G>A (p.Ser248=)	RASopathy [RCV001503600]	likely benign	19	4099376	4099376	Human	1	name
127329011	CV1148869	single nucleotide variant	NM_030662.4(MAP2K2):c.510G>A (p.Leu170=)	Cardiovascular phenotype [RCV002342100]\|RASopathy [RCV001487152]	likely benign	19	4102394	4102394	Human	1	name
127337581	CV1148870	single nucleotide variant	NM_030662.4(MAP2K2):c.339C>T (p.Asn113=)	Cardiovascular phenotype [RCV002456880]\|RASopathy [RCV001492927]	likely benign	19	4110620	4110620	Human	1	name
150332204	CV1163747	single nucleotide variant	NM_030662.4(MAP2K2):c.528G>A (p.Ala176=)	Cardiofaciocutaneous syndrome 4 [RCV001528135]\|RASopathy [RCV001873729]	likely pathogenic\|uncertain significance	19	4102376	4102376	Human	2	name
150331925	CV1169831	single nucleotide variant	NM_030662.4(MAP2K2):c.810C>T (p.Pro270=)	Cardiovascular phenotype [RCV002421181]\|RASopathy [RCV002071927]\|not provided [RCV001536683]	likely benign	19	4099310	4099310	Human	1	name
150428969	CV1188778	single nucleotide variant	NM_030662.4(MAP2K2):c.924C>T (p.His308=)	RASopathy [RCV003771721]\|not provided [RCV001562972]	likely benign	19	4097339	4097339	Human	1	name
150516915	CV1227354	deletion	NM_030662.4(MAP2K2):c.984+250_984+251del	not provided [RCV001639455]	benign	19	4097028	4097029	Human		name
150531317	CV1299382	single nucleotide variant	NM_030662.4(MAP2K2):c.74C>A (p.Thr25Asn)	not provided [RCV001757075]	uncertain significance	19	4123802	4123802	Human		name
150553571	CV1303580	deletion	NM_030662.4(MAP2K2):c.206del (p.Asp69fs)	not provided [RCV001769270]	uncertain significance	19	4117516	4117516	Human		name
151234554	CV1320322	single nucleotide variant	NM_030662.4(MAP2K2):c.912C>T (p.Pro304=)	Cardiovascular phenotype [RCV002370325]\|RASopathy [RCV002074146]\|not provided [RCV001799946]\|not specified [RCV003994330]	likely benign	19	4099208	4099208	Human	1	name
151352158	CV1325117	single nucleotide variant	NM_030662.4(MAP2K2):c.951C>T (p.Ala317=)	Cardiovascular phenotype [RCV004996019]\|Noonan syndrome and Noonan-related syndrome [RCV001813673]\|RASopathy [RCV002074234]	likely benign\|uncertain significance	19	4097312	4097312	Human	1	name
151352161	CV1325119	single nucleotide variant	NM_030662.4(MAP2K2):c.627G>A (p.Lys209=)	Noonan syndrome and Noonan-related syndrome [RCV001813675]	uncertain significance	19	4101097	4101097	Human		name
151352167	CV1325123	single nucleotide variant	NM_030662.4(MAP2K2):c.85G>T (p.Ala29Ser)	Noonan syndrome and Noonan-related syndrome [RCV001813679]\|RASopathy [RCV005095229]	uncertain significance	19	4123791	4123791	Human	1	name
151354565	CV1329698	single nucleotide variant	NM_030662.4(MAP2K2):c.895A>C (p.Arg299=)	Cardiovascular phenotype [RCV002370343]\|not specified [RCV001818063]	likely benign	19	4099225	4099225	Human		name
8691894	CV141861	single nucleotide variant	NM_030662.4(MAP2K2):c.546G>A (p.Ala182=)	Cardiovascular phenotype [RCV002345435]\|RASopathy [RCV000226018]\|not specified [RCV000126673]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4101263	4101263	Human	1	name
8691895	CV141862	single nucleotide variant	NM_030662.4(MAP2K2):c.690G>A (p.Thr230=)	Cardiofaciocutaneous syndrome 4 [RCV003114276]\|Cardiovascular phenotype [RCV002362765]\|MAP2K2-related disorder [RCV003975121]\|Noonan syndrome and Noonan-related syndrome [RCV001813386]\|RASopathy [RCV000232567]\|not provided [RCV000589657]\|not specified [RCV000126 ... (more) 675]	benign\|likely benign	19	4101034	4101034	Human	2	name , trait , alternate_id
8691897	CV141864	single nucleotide variant	NM_030662.4(MAP2K2):c.825G>A (p.Leu275=)	Cardiovascular phenotype [RCV002426686]\|MAP2K2-related disorder [RCV003965051]\|RASopathy [RCV000524027]\|not provided [RCV000589791]\|not specified [RCV000126677]	benign\|likely benign	19	4099295	4099295	Human	2	name , trait , alternate_id
152120769	CV1521339	single nucleotide variant	NM_030662.4(MAP2K2):c.768C>G (p.Ser256=)	RASopathy [RCV002135679]\|not provided [RCV004809790]	likely benign	19	4099352	4099352	Human	1	name
152078343	CV1564839	single nucleotide variant	NM_030662.4(MAP2K2):c.381G>A (p.Ser127=)	RASopathy [RCV002192714]	likely benign	19	4110578	4110578	Human	1	name
152103865	CV1569884	single nucleotide variant	NM_030662.4(MAP2K2):c.852C>G (p.Val284=)	RASopathy [RCV002195888]	likely benign	19	4099268	4099268	Human	1	name
152054059	CV1574199	single nucleotide variant	NM_030662.4(MAP2K2):c.876C>T (p.His292=)	RASopathy [RCV002189747]	likely benign	19	4099244	4099244	Human	1	name
152128961	CV1599857	single nucleotide variant	NM_030662.4(MAP2K2):c.642G>A (p.Gly214=)	RASopathy [RCV002136684]	likely benign	19	4101082	4101082	Human	1	name
152160719	CV1601745	single nucleotide variant	NM_030662.4(MAP2K2):c.735G>A (p.Ser245=)	Cardiovascular phenotype [RCV002382384]\|RASopathy [RCV002180884]	likely benign	19	4099385	4099385	Human	1	name
152132909	CV1621512	single nucleotide variant	NM_030662.4(MAP2K2):c.597C>T (p.Asn199=)	RASopathy [RCV002218318]	likely benign	19	4101127	4101127	Human	1	name
152095475	CV1653091	single nucleotide variant	NM_030662.4(MAP2K2):c.807G>T (p.Pro269=)	Cardiovascular phenotype [RCV002409484]\|RASopathy [RCV002094778]	likely benign	19	4099313	4099313	Human	1	name
152060744	CV1659734	single nucleotide variant	NM_030662.4(MAP2K2):c.459C>A (p.Gly153=)	Cardiovascular phenotype [RCV002337247]\|RASopathy [RCV002073645]	likely benign	19	4102445	4102445	Human	1	name
9690476	CV176029	single nucleotide variant	NM_030662.4(MAP2K2):c.639C>T (p.Phe213=)	Cardiovascular phenotype [RCV004992030]\|RASopathy [RCV003114306]\|not provided [RCV000680624]\|not specified [RCV000156156]	likely benign	19	4101085	4101085	Human	1	name
9691800	CV176030	single nucleotide variant	NM_030662.4(MAP2K2):c.564C>T (p.His188=)	Cardiovascular phenotype [RCV004019813]\|not specified [RCV000151008]	likely benign	19	4101245	4101245	Human		name
9691801	CV176173	single nucleotide variant	NM_030662.4(MAP2K2):c.384G>A (p.Pro128=)	Cardiovascular phenotype [RCV004992021]\|MAP2K2-related disorder [RCV004745217]\|RASopathy [RCV001476321]\|not specified [RCV000151010]	likely benign	19	4110575	4110575	Human	2	name , trait , alternate_id
155664178	CV1789786	single nucleotide variant	NM_030662.4(MAP2K2):c.369C>T (p.His123=)	Cardiovascular phenotype [RCV002348877]\|RASopathy [RCV005096354]\|not specified [RCV004782923]	likely benign	19	4110590	4110590	Human	1	name
155666374	CV1793105	single nucleotide variant	NM_030662.4(MAP2K2):c.363C>T (p.Val121=)	Cardiovascular phenotype [RCV002452415]	likely benign	19	4110596	4110596	Human		name
155669182	CV1800031	single nucleotide variant	NM_030662.4(MAP2K2):c.546G>T (p.Ala182=)	Cardiovascular phenotype [RCV002349785]	likely benign	19	4101263	4101263	Human		name
155666907	CV1803108	single nucleotide variant	NM_030662.4(MAP2K2):c.540C>T (p.Gly180=)	Cardiovascular phenotype [RCV002349409]	likely benign	19	4101269	4101269	Human		name
155728056	CV1812871	single nucleotide variant	NM_030662.4(MAP2K2):c.726A>G (p.Thr242=)	Cardiovascular phenotype [RCV002382565]	likely benign	19	4099394	4099394	Human		name
155714395	CV1815280	single nucleotide variant	NM_030662.4(MAP2K2):c.684G>A (p.Val228=)	Cardiovascular phenotype [RCV002362109]	likely benign	19	4101040	4101040	Human		name
155666566	CV1819546	single nucleotide variant	NM_030662.4(MAP2K2):c.741G>A (p.Gln247=)	Cardiovascular phenotype [RCV002384976]\|MAP2K2-related disorder [RCV003903684]	likely benign	19	4099379	4099379	Human	1	name , trait , alternate_id
155705279	CV1824118	single nucleotide variant	NM_030662.4(MAP2K2):c.843G>A (p.Arg281=)	Cardiovascular phenotype [RCV002445940]	likely benign	19	4099277	4099277	Human		name
155698927	CV1824494	single nucleotide variant	NM_030662.4(MAP2K2):c.888T>G (p.Pro296=)	Cardiovascular phenotype [RCV002376009]	likely benign	19	4099232	4099232	Human		name
155684693	CV1824975	single nucleotide variant	NM_030662.4(MAP2K2):c.937C>A (p.Arg313=)	Cardiovascular phenotype [RCV002371744]	likely benign	19	4097326	4097326	Human		name
156362519	CV1881371	single nucleotide variant	NM_030662.4(MAP2K2):c.570C>A (p.Ile190=)	RASopathy [RCV003065719]	likely benign	19	4101239	4101239	Human	1	name
156408720	CV1911739	single nucleotide variant	NM_030662.4(MAP2K2):c.879C>T (p.Ser293=)	RASopathy [RCV002607325]	likely benign	19	4099241	4099241	Human	1	name
156296760	CV1924160	single nucleotide variant	NM_030662.4(MAP2K2):c.889C>A (p.Arg297=)	RASopathy [RCV002629050]	likely benign	19	4099231	4099231	Human	1	name
156122594	CV1952802	single nucleotide variant	NM_030662.4(MAP2K2):c.73A>G (p.Thr25Ala)	RASopathy [RCV002571923]	uncertain significance	19	4123803	4123803	Human	1	name
10052855	CV195430	single nucleotide variant	NM_030662.4(MAP2K2):c.648C>T (p.Ser216=)	RASopathy [RCV002054134]\|not provided [RCV000179542]\|not specified [RCV001844072]	likely benign\|uncertain significance	19	4101076	4101076	Human	1	name
10053081	CV195756	single nucleotide variant	NM_030662.4(MAP2K2):c.763C>T (p.Leu255=)	not provided [RCV000179979]	uncertain significance	19	4099357	4099357	Human		name
156200941	CV2024541	single nucleotide variant	NM_030662.4(MAP2K2):c.83G>A (p.Gly28Asp)	RASopathy [RCV002711397]	uncertain significance	19	4123793	4123793	Human	1	name
156131376	CV2084918	deletion	NM_030662.4(MAP2K2):c.1093-14_1093-11del	RASopathy [RCV002871646]	likely benign	19	4090719	4090722	Human	1	name
156101824	CV2088040	single nucleotide variant	NM_030662.4(MAP2K2):c.508C>T (p.Leu170=)	RASopathy [RCV002848113]	likely benign	19	4102396	4102396	Human	1	name
156152879	CV2098548	single nucleotide variant	NM_030662.4(MAP2K2):c.463C>T (p.Leu155=)	RASopathy [RCV002890713]	likely benign	19	4102441	4102441	Human	1	name
156153947	CV2098613	single nucleotide variant	NM_030662.4(MAP2K2):c.807G>A (p.Pro269=)	RASopathy [RCV002890749]	likely benign	19	4099313	4099313	Human	1	name
156056331	CV2102044	single nucleotide variant	NM_030662.4(MAP2K2):c.963C>A (p.Leu321=)	RASopathy [RCV002886340]	likely benign	19	4097300	4097300	Human	1	name
155947735	CV2108193	single nucleotide variant	NM_030662.4(MAP2K2):c.79G>A (p.Glu27Lys)	RASopathy [RCV002904875]	uncertain significance	19	4123797	4123797	Human	1	name
156237037	CV2118470	single nucleotide variant	NM_030662.4(MAP2K2):c.715T>C (p.Leu239=)	RASopathy [RCV002958731]	likely benign	19	4099405	4099405	Human	1	name
156030400	CV2141978	single nucleotide variant	NM_030662.4(MAP2K2):c.999G>A (p.Leu333=)	RASopathy [RCV002976579]	likely benign	19	4095435	4095435	Human	1	name
156270202	CV2178946	single nucleotide variant	NM_030662.4(MAP2K2):c.792G>A (p.Arg264=)	RASopathy [RCV003044426]	likely benign	19	4099328	4099328	Human	1	name
156161451	CV2191854	single nucleotide variant	NM_030662.4(MAP2K2):c.900C>A (p.Pro300=)	RASopathy [RCV003040725]	likely benign	19	4099220	4099220	Human	1	name
329385305	CV2423101	single nucleotide variant	NM_030662.4(MAP2K2):c.44A>C (p.Asn15Thr)	Cardiovascular phenotype [RCV003177074]\|RASopathy [RCV005101073]	uncertain significance	19	4123832	4123832	Human	1	name
329385309	CV2423103	single nucleotide variant	NM_030662.4(MAP2K2):c.567G>A (p.Gln189=)	Cardiovascular phenotype [RCV003177076]\|RASopathy [RCV003779502]	likely benign	19	4101242	4101242	Human	1	name
329385310	CV2423104	single nucleotide variant	NM_030662.4(MAP2K2):c.927G>A (p.Gly309=)	Cardiovascular phenotype [RCV003177077]	likely benign	19	4097336	4097336	Human		name
11552429	CV257128	single nucleotide variant	NM_030662.4(MAP2K2):c.804C>T (p.Pro268=)	RASopathy [RCV002058364]\|not specified [RCV000254367]	likely benign	19	4099316	4099316	Human	1	name
11549189	CV257132	single nucleotide variant	NM_030662.4(MAP2K2):c.516A>G (p.Lys172=)	not specified [RCV000250088]	likely benign	19	4102388	4102388	Human		name
401908244	CV2815196	single nucleotide variant	NM_030662.4(MAP2K2):c.70C>G (p.Pro24Ala)	not provided [RCV003423210]	uncertain significance	19	4123806	4123806	Human		name
401914186	CV2830589	single nucleotide variant	NM_030662.4(MAP2K2):c.687C>T (p.Gly229=)	RASopathy [RCV003539491]\|not provided [RCV003442327]	uncertain significance	19	4101037	4101037	Human	1	name
405158189	CV2861765	single nucleotide variant	NM_030662.4(MAP2K2):c.55G>T (p.Ala19Ser)	RASopathy [RCV003539541]	uncertain significance	19	4123821	4123821	Human	1	name
405160646	CV2889582	single nucleotide variant	NM_030662.4(MAP2K2):c.801C>T (p.Ile267=)	RASopathy [RCV003540084]	likely benign	19	4099319	4099319	Human	1	name
405162069	CV2902742	single nucleotide variant	NM_030662.4(MAP2K2):c.855C>T (p.Asp285=)	Cardiovascular phenotype [RCV004369316]\|RASopathy [RCV003540201]	likely benign	19	4099265	4099265	Human	1	name
405163193	CV2916224	single nucleotide variant	NM_030662.4(MAP2K2):c.900C>T (p.Pro300=)	RASopathy [RCV003540293]	likely benign	19	4099220	4099220	Human	1	name
405165204	CV2933439	single nucleotide variant	NM_030662.4(MAP2K2):c.537G>A (p.Arg179=)	RASopathy [RCV003540459]	likely benign	19	4101272	4101272	Human	1	name
405060371	CV2999768	single nucleotide variant	NM_030662.4(MAP2K2):c.61G>C (p.Gly21Arg)	RASopathy [RCV003655889]	uncertain significance	19	4123815	4123815	Human	1	name
405060126	CV3002011	single nucleotide variant	NM_030662.4(MAP2K2):c.513G>A (p.Gly171=)	RASopathy [RCV003655868]	likely benign	19	4102391	4102391	Human	1	name
405047251	CV3019887	single nucleotide variant	NM_030662.4(MAP2K2):c.990T>C (p.Pro330=)	RASopathy [RCV003654468]	likely benign	19	4095444	4095444	Human	1	name
405047114	CV3029815	single nucleotide variant	NM_030662.4(MAP2K2):c.594C>T (p.Ser198=)	RASopathy [RCV003654456]	uncertain significance	19	4101130	4101130	Human	1	name
405047480	CV3030385	single nucleotide variant	NM_030662.4(MAP2K2):c.999G>T (p.Leu333=)	RASopathy [RCV003654486]	likely benign	19	4095435	4095435	Human	1	name
405050709	CV3061009	single nucleotide variant	NM_030662.4(MAP2K2):c.600C>T (p.Ile200=)	RASopathy [RCV003654714]	likely benign	19	4101124	4101124	Human	1	name
405049797	CV3066683	single nucleotide variant	NM_030662.4(MAP2K2):c.528G>C (p.Ala176=)	RASopathy [RCV003654667]\|not specified [RCV004701807]	uncertain significance	19	4102376	4102376	Human	1	name
405049813	CV3066732	single nucleotide variant	NM_030662.4(MAP2K2):c.630G>A (p.Leu210=)	RASopathy [RCV003654668]	likely benign	19	4101094	4101094	Human	1	name
405051723	CV3069948	single nucleotide variant	NM_030662.4(MAP2K2):c.543G>A (p.Leu181=)	RASopathy [RCV003654793]	likely benign	19	4101266	4101266	Human	1	name
405052723	CV3076763	single nucleotide variant	NM_030662.4(MAP2K2):c.591C>G (p.Pro197=)	RASopathy [RCV003654874]	likely benign	19	4101133	4101133	Human	1	name
405052370	CV3079118	single nucleotide variant	NM_030662.4(MAP2K2):c.660C>T (p.Ile220=)	RASopathy [RCV003654844]	likely benign	19	4101064	4101064	Human	1	name
405052773	CV3079891	single nucleotide variant	NM_030662.4(MAP2K2):c.363C>G (p.Val121=)	RASopathy [RCV003654878]	likely benign	19	4110596	4110596	Human	1	name
405204276	CV3116923	single nucleotide variant	NM_030662.4(MAP2K2):c.363C>A (p.Val121=)	RASopathy [RCV003822407]	likely benign	19	4110596	4110596	Human	1	name
405112430	CV3118542	single nucleotide variant	NM_030662.4(MAP2K2):c.996G>A (p.Lys332=)	RASopathy [RCV003813770]	likely benign	19	4095438	4095438	Human	1	name
405210758	CV3146245	single nucleotide variant	NM_030662.4(MAP2K2):c.708G>A (p.Pro236=)	RASopathy [RCV003845776]	likely benign	19	4099412	4099412	Human	1	name
405092601	CV3164085	single nucleotide variant	NM_030662.4(MAP2K2):c.97A>C (p.Asn33His)	RASopathy [RCV003852400]	uncertain significance	19	4117625	4117625	Human	1	name
402494836	CV3183030	single nucleotide variant	NM_030662.4(MAP2K2):c.58G>A (p.Glu20Lys)	RASopathy [RCV003877338]	uncertain significance	19	4123818	4123818	Human	1	name
405683296	CV3387823	single nucleotide variant	NM_030662.4(MAP2K2):c.405G>A (p.Gly135=)	Cardiovascular phenotype [RCV004517798]\|RASopathy [RCV005100635]	likely benign	19	4110554	4110554	Human	1	name
405683297	CV3387824	single nucleotide variant	NM_030662.4(MAP2K2):c.498C>G (p.Pro166=)	Cardiovascular phenotype [RCV004517799]\|RASopathy [RCV005100636]	likely benign	19	4102406	4102406	Human	1	name
405683309	CV3387827	single nucleotide variant	NM_030662.4(MAP2K2):c.91G>A (p.Glu31Lys)	Cardiovascular phenotype [RCV004517802]	uncertain significance	19	4123785	4123785	Human		name
407468985	CV3446441	single nucleotide variant	NM_030662.4(MAP2K2):c.336G>C (p.Arg112=)	Cardiovascular phenotype [RCV004636472]	likely benign	19	4110623	4110623	Human		name
408374089	CV3514322	single nucleotide variant	NM_030662.4(MAP2K2):c.642G>T (p.Gly214=)	MAP2K2-related disorder [RCV004745965]	likely benign	19	4101082	4101082	Human		name , trait , alternate_id
596921484	CV3535106	single nucleotide variant	NM_030662.4(MAP2K2):c.47C>G (p.Pro16Arg)	Cardiofaciocutaneous syndrome 4 [RCV005017277]\|RASopathy [RCV005105054]\|not provided [RCV004784665]	uncertain significance	19	4123829	4123829	Human	2	name
12741112	CV360561	deletion	NM_030662.4(MAP2K2):c.159del (p.Leu54fs)	Cardiofaciocutaneous syndrome 4 [RCV005027472]\|RASopathy [RCV001850984]\|not provided [RCV000414117]\|not specified [RCV001201247]	uncertain significance	19	4117563	4117563	Human	2	name
597729918	CV3699986	single nucleotide variant	NM_030662.4(MAP2K2):c.852C>T (p.Val284=)	Cardiovascular phenotype [RCV004995636]	likely benign	19	4099268	4099268	Human		name
597729920	CV3699987	single nucleotide variant	NM_030662.4(MAP2K2):c.798C>T (p.Pro266=)	Cardiovascular phenotype [RCV004995637]	likely benign	19	4099322	4099322	Human		name
597852677	CV3737665	single nucleotide variant	NM_030662.4(MAP2K2):c.77G>A (p.Ser26Asn)	RASopathy [RCV005066438]	uncertain significance	19	4123799	4123799	Human	1	name
597899211	CV3774391	single nucleotide variant	NM_030662.4(MAP2K2):c.81G>T (p.Glu27Asp)	RASopathy [RCV005111927]	uncertain significance	19	4123795	4123795	Human	1	name
597899218	CV3774392	single nucleotide variant	NM_030662.4(MAP2K2):c.62G>T (p.Gly21Val)	Cardiovascular phenotype [RCV005365411]\|RASopathy [RCV005111928]	uncertain significance	19	4123814	4123814	Human	1	name
12843853	CV377533	single nucleotide variant	NM_030662.4(MAP2K2):c.327G>A (p.Pro109=)	Cardiovascular phenotype [RCV002323589]\|RASopathy [RCV002061426]\|not provided [RCV000436974]	likely benign	19	4110632	4110632	Human	1	name
12838956	CV377687	single nucleotide variant	NM_030662.4(MAP2K2):c.813C>T (p.Asp271=)	Cardiovascular phenotype [RCV002418252]\|RASopathy [RCV000519008]\|not provided [RCV000427922]	benign\|likely benign	19	4099307	4099307	Human	1	name
597888682	CV3787778	single nucleotide variant	NM_030662.4(MAP2K2):c.735G>T (p.Ser245=)	RASopathy [RCV005125345]	likely benign	19	4099385	4099385	Human	1	name
597948709	CV3801226	single nucleotide variant	NM_030662.4(MAP2K2):c.612T>A (p.Ser204=)	RASopathy [RCV005135406]	likely benign	19	4101112	4101112	Human	1	name
597882513	CV3803143	single nucleotide variant	NM_030662.4(MAP2K2):c.672C>T (p.Ala224=)	RASopathy [RCV005149994]	likely benign	19	4101052	4101052	Human	1	name
597951709	CV3815388	single nucleotide variant	NM_030662.4(MAP2K2):c.68C>T (p.Ser23Phe)	RASopathy [RCV005161338]	uncertain significance	19	4123808	4123808	Human	1	name
597886388	CV3842333	single nucleotide variant	NM_030662.4(MAP2K2):c.906G>A (p.Gly302=)	RASopathy [RCV005178968]	likely benign	19	4099214	4099214	Human	1	name
597933327	CV3844669	single nucleotide variant	NM_030662.4(MAP2K2):c.37A>T (p.Thr13Ser)	RASopathy [RCV005186175]	uncertain significance	19	4123839	4123839	Human	1	name
597937773	CV3852676	single nucleotide variant	NM_030662.4(MAP2K2):c.534C>T (p.Leu178=)	RASopathy [RCV005187075]	likely benign	19	4101275	4101275	Human	1	name
597932025	CV3862448	single nucleotide variant	NM_030662.4(MAP2K2):c.99C>G (p.Asn33Lys)	RASopathy [RCV005206693]	uncertain significance	19	4117623	4117623	Human	1	name
598196845	CV3988648	single nucleotide variant	NM_030662.4(MAP2K2):c.954C>T (p.Ile318=)	Cardiovascular phenotype [RCV005375334]	likely benign	19	4097309	4097309	Human		name
598166179	CV3988650	single nucleotide variant	NM_030662.4(MAP2K2):c.828G>A (p.Glu276=)	Cardiovascular phenotype [RCV005369301]	likely benign	19	4099292	4099292	Human		name
12891678	CV403254	single nucleotide variant	NM_030662.4(MAP2K2):c.909C>T (p.Arg303=)	Cardiovascular phenotype [RCV002374862]\|RASopathy [RCV001419294]	likely benign	19	4099211	4099211	Human	1	name
12882531	CV403727	single nucleotide variant	NM_030662.4(MAP2K2):c.783C>T (p.Ala261=)	Cardiovascular phenotype [RCV002411559]\|RASopathy [RCV001494223]	likely benign	19	4099337	4099337	Human	1	name
13464935	CV470250	single nucleotide variant	NM_030662.4(MAP2K2):c.918C>T (p.Ser306=)	Cardiovascular phenotype [RCV003159945]\|MAP2K2-related disorder [RCV003900241]\|RASopathy [RCV000544637]	likely benign\|uncertain significance	19	4099202	4099202	Human	2	name , trait , alternate_id
13468930	CV470924	single nucleotide variant	NM_030662.4(MAP2K2):c.861A>G (p.Glu287=)	RASopathy [RCV000560481]	likely benign	19	4099259	4099259	Human	1	name
13521516	CV488055	single nucleotide variant	NM_030662.4(MAP2K2):c.399C>T (p.Phe133=)	Cardiovascular phenotype [RCV002377219]\|RASopathy [RCV002065138]\|not specified [RCV000589407]	likely benign\|uncertain significance	19	4110560	4110560	Human	1	name
8609095	CV49263	single nucleotide variant	NM_030662.4(MAP2K2):c.405G>C (p.Gly135=)	Cardiofaciocutaneous syndrome 4 [RCV000999815]\|Cardiovascular phenotype [RCV002321501]\|Noonan syndrome and Noonan-related syndrome [RCV001813312]\|RASopathy [RCV000149844]\|not provided [RCV001711143]\|not specified [RCV000039480]	benign	19	4110554	4110554	Human	2	name
8609100	CV49272	single nucleotide variant	NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)	Cardiovascular phenotype [RCV002336106]\|Noonan syndrome and Noonan-related syndrome [RCV001813313]\|RASopathy [RCV000458075]\|not provided [RCV000726603]\|not specified [RCV000039485]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4102406	4102406	Human	1	name
150477559	CV49280	single nucleotide variant	NM_030662.4(MAP2K2):c.591C>T (p.Pro197=)	not provided [RCV001672231]	benign	19	4101133	4101133	Human		name
8609104	CV49281	single nucleotide variant	NM_030662.4(MAP2K2):c.603C>T (p.Leu201=)	Cardiovascular phenotype [RCV004018724]\|MAP2K2-related disorder [RCV003894846]\|Noonan syndrome and Noonan-related syndrome [RCV001813315]\|RASopathy [RCV000466681]\|not provided [RCV001705635]\|not specified [RCV000039489]	benign\|likely benign	19	4101121	4101121	Human	2	name , trait , alternate_id
150515481	CV49285	single nucleotide variant	NM_030662.4(MAP2K2):c.651C>G (p.Gly217=)	Cardiovascular phenotype [RCV002360990]\|RASopathy [RCV005057537]\|not provided [RCV001638845]	benign\|likely benign	19	4101073	4101073	Human	1	name
8609105	CV49286	single nucleotide variant	NM_030662.4(MAP2K2):c.660C>A (p.Ile220=)	Cardiofaciocutaneous syndrome 4 [RCV000610143]\|Cardiovascular phenotype [RCV002371813]\|RASopathy [RCV000149846]\|not provided [RCV001705636]\|not specified [RCV000039490]	benign	19	4101064	4101064	Human	2	name
8609109	CV49295	single nucleotide variant	NM_030662.4(MAP2K2):c.823C>T (p.Leu275=)	Cardiovascular phenotype [RCV002426540]\|MAP2K2-related disorder [RCV003944870]\|RASopathy [RCV000520563]\|not provided [RCV001705637]\|not specified [RCV000039494]	benign\|likely benign	19	4099297	4099297	Human	2	name , trait , alternate_id
8609111	CV49297	single nucleotide variant	NM_030662.4(MAP2K2):c.846C>T (p.Pro282=)	Cardiofaciocutaneous syndrome 4 [RCV001000054]\|Cardiovascular phenotype [RCV002444458]\|Noonan syndrome and Noonan-related syndrome [RCV001813316]\|RASopathy [RCV000197348]\|not provided [RCV001705638]\|not specified [RCV000039496]	benign\|likely benign	19	4099274	4099274	Human	2	name
13491491	CV49303	single nucleotide variant	NM_030662.4(MAP2K2):c.903C>T (p.Pro301=)	Cardiovascular phenotype [RCV002371814]\|RASopathy [RCV000534262]\|not provided [RCV001610308]\|not specified [RCV001194170]	benign\|likely benign	19	4099217	4099217	Human	1	name
8609114	CV49310	single nucleotide variant	NM_030662.4(MAP2K2):c.981C>T (p.Asn327=)	Cardiovascular phenotype [RCV002371816]\|MAP2K2-related disorder [RCV003934877]\|RASopathy [RCV001080291]\|not provided [RCV000590665]\|not specified [RCV000039499]	benign\|likely benign	19	4097282	4097282	Human	2	name , trait , alternate_id
13518456	CV494978	single nucleotide variant	NM_030662.4(MAP2K2):c.32C>G (p.Ala11Gly)	not specified [RCV000597450]	uncertain significance	19	4123844	4123844	Human		name
13528780	CV497521	single nucleotide variant	NM_030662.4(MAP2K2):c.834C>A (p.Ile278=)	not specified [RCV000605554]	likely benign	19	4099286	4099286	Human		name
13537195	CV506828	single nucleotide variant	NM_030662.4(MAP2K2):c.894G>A (p.Pro298=)	Cardiovascular phenotype [RCV002448902]\|MAP2K2-related disorder [RCV003892378]\|RASopathy [RCV002066693]\|not provided [RCV005427163]\|not specified [RCV000610061]	likely benign	19	4099226	4099226	Human	2	name , trait , alternate_id
13538184	CV506831	single nucleotide variant	NM_030662.4(MAP2K2):c.456C>T (p.Gly152=)	Cardiovascular phenotype [RCV003302944]\|RASopathy [RCV001054943]\|not provided [RCV003884662]\|not specified [RCV000611453]	benign\|likely benign\|uncertain significance	19	4102448	4102448	Human	1	name
13536725	CV507397	single nucleotide variant	NM_030662.4(MAP2K2):c.351C>G (p.Arg117=)	Cardiovascular phenotype [RCV002457954]\|Noonan syndrome and Noonan-related syndrome [RCV001813526]\|RASopathy [RCV005091733]\|not provided [RCV001719079]	likely benign\|uncertain significance	19	4110608	4110608	Human	1	name
13626613	CV533110	single nucleotide variant	NM_030662.4(MAP2K2):c.390C>T (p.Ile130=)	Cardiovascular phenotype [RCV002369767]\|RASopathy [RCV000655014]\|not specified [RCV001193490]	likely benign	19	4110569	4110569	Human	1	name
13626550	CV533548	single nucleotide variant	NM_030662.4(MAP2K2):c.477G>A (p.Leu159=)	Cardiovascular phenotype [RCV003303081]\|RASopathy [RCV002534223]\|not specified [RCV001797772]	likely benign	19	4102427	4102427	Human	1	name
13626541	CV533554	single nucleotide variant	NM_030662.4(MAP2K2):c.402C>T (p.Tyr134=)	Cardiovascular phenotype [RCV002358898]\|MAP2K2-related disorder [RCV003945685]\|RASopathy [RCV000654985]	likely benign	19	4110557	4110557	Human	2	name , trait , alternate_id
13796746	CV553031	deletion	NM_030662.4(MAP2K2):c.1046+91_1046+92del	not provided [RCV000680732]	likely benign	19	4095296	4095297	Human		name
8609096	CV55400	single nucleotide variant	NM_030662.4(MAP2K2):c.420C>T (p.Asp140=)	Cardiovascular phenotype [RCV002326746]\|Noonan syndrome and Noonan-related syndrome [RCV001813365]\|RASopathy [RCV000521680]\|not provided [RCV000587230]\|not specified [RCV000039481]	benign\|likely benign	19	4110539	4110539	Human	1	name
8609099	CV55402	single nucleotide variant	NM_030662.4(MAP2K2):c.453C>T (p.Asp151=)	Cardiofaciocutaneous syndrome 4 [RCV001001539]\|Cardiovascular phenotype [RCV002326747]\|RASopathy [RCV000149845]\|not provided [RCV000509111]\|not specified [RCV000039484]	benign\|not provided	19	4102451	4102451	Human	2	name
8609101	CV55403	single nucleotide variant	NM_030662.4(MAP2K2):c.49A>G (p.Thr17Ala)	not provided [RCV001564919]\|not specified [RCV000039486]	likely benign\|uncertain significance	19	4123827	4123827	Human		name
8609102	CV55404	single nucleotide variant	NM_030662.4(MAP2K2):c.525C>T (p.Ile175=)	Cardiovascular phenotype [RCV002336140]\|Noonan syndrome and Noonan-related syndrome [RCV001813366]\|RASopathy [RCV000126671]\|not specified [RCV000039487]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4102379	4102379	Human	1	name
8609106	CV55405	single nucleotide variant	NM_030662.4(MAP2K2):c.678C>T (p.Ser226=)	Cardiovascular phenotype [RCV002362632]\|RASopathy [RCV000654987]\|not provided [RCV003237418]\|not specified [RCV000039491]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4101046	4101046	Human	1	name
8609113	CV55408	single nucleotide variant	NM_030662.4(MAP2K2):c.939G>T (p.Arg313=)	Cardiovascular phenotype [RCV003162346]\|RASopathy [RCV000862266]\|not specified [RCV000039498]	likely benign	19	4097324	4097324	Human	1	name
14396243	CV612027	single nucleotide variant	NM_030662.4(MAP2K2):c.46C>A (p.Pro16Thr)	Cardiofaciocutaneous syndrome 4 [RCV005021149]\|Noonan syndrome [RCV000761005]\|RASopathy [RCV002533858]	uncertain significance	19	4123830	4123830	Human	3	name
14689796	CV621634	single nucleotide variant	NM_030662.4(MAP2K2):c.699C>T (p.Tyr233=)	Cardiovascular phenotype [RCV004027317]\|RASopathy [RCV002536864]\|not specified [RCV000780393]	likely benign\|uncertain significance	19	4101025	4101025	Human	1	name
14689807	CV621635	single nucleotide variant	NM_030662.4(MAP2K2):c.531T>C (p.Val177=)	Cardiovascular phenotype [RCV004994003]\|RASopathy [RCV003655209]\|not specified [RCV000780397]	likely benign\|uncertain significance	19	4101278	4101278	Human	1	name
14689799	CV621636	single nucleotide variant	NM_030662.4(MAP2K2):c.357G>A (p.Leu119=)	RASopathy [RCV003768453]\|not specified [RCV000780394]	likely benign\|uncertain significance	19	4110602	4110602	Human	1	name
8611994	CV65600	single nucleotide variant	NM_030662.4(MAP2K2):c.474G>A (p.Val158=)	Cardiovascular phenotype [RCV002336167]\|RASopathy [RCV002054865]\|not provided [RCV000680359]\|not specified [RCV000043644]	likely benign	19	4102430	4102430	Human	1	name
8611995	CV65601	single nucleotide variant	NM_030662.4(MAP2K2):c.621G>A (p.Glu207=)	Cardiovascular phenotype [RCV003298088]\|MAP2K2-related disorder [RCV003894883]\|RASopathy [RCV001412978]\|not provided [RCV004703198]\|not specified [RCV000043645]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4101103	4101103	Human	2	name , trait , alternate_id
15149389	CV689062	single nucleotide variant	NM_030662.4(MAP2K2):c.681C>T (p.Phe227=)	RASopathy [RCV000866848]	likely benign	19	4101043	4101043	Human	1	name
15152732	CV689063	single nucleotide variant	NM_030662.4(MAP2K2):c.429C>T (p.Ile143=)	Cardiovascular phenotype [RCV002332801]\|RASopathy [RCV001416962]	likely benign	19	4110530	4110530	Human	1	name
15107953	CV694425	single nucleotide variant	NM_030662.4(MAP2K2):c.778C>T (p.Leu260=)	RASopathy [RCV005092597]	likely benign	19	4099342	4099342	Human	1	name
15116940	CV694426	single nucleotide variant	NM_030662.4(MAP2K2):c.534C>G (p.Leu178=)	RASopathy [RCV000873415]\|not specified [RCV001251360]	benign\|likely benign	19	4101275	4101275	Human	1	name
15203306	CV757038	single nucleotide variant	NM_030662.4(MAP2K2):c.315T>G (p.Leu105=)	RASopathy [RCV001430524]\|not provided [RCV003424468]	likely benign	19	4110644	4110644	Human	1	name
34896170	CV917295	single nucleotide variant	NM_030662.4(MAP2K2):c.990T>A (p.Pro330=)	not specified [RCV001193491]	likely benign	19	4095444	4095444	Human		name
34896167	CV917296	single nucleotide variant	NM_030662.4(MAP2K2):c.987A>G (p.Pro329=)	not specified [RCV001193487]	uncertain significance	19	4095447	4095447	Human		name
42723989	CV984001	single nucleotide variant	NM_030662.4(MAP2K2):c.750C>T (p.Ile250=)	not specified [RCV001290623]	likely benign	19	4099370	4099370	Human		name
126753733	CV998618	single nucleotide variant	NM_030662.4(MAP2K2):c.34C>A (p.Leu12Ile)	RASopathy [RCV001307458]	uncertain significance	19	4123842	4123842	Human	1	name
150528988	CV1288599	single nucleotide variant	NM_030662.4(MAP2K2):c.260C>A (p.Thr87Asn)	not provided [RCV001727067]	uncertain significance	19	4117462	4117462	Human		name
150553566	CV1303575	single nucleotide variant	NM_030662.4(MAP2K2):c.250G>A (p.Gly84Arg)	not provided [RCV001769265]	uncertain significance	19	4117472	4117472	Human		name
151352162	CV1325120	single nucleotide variant	NM_030662.4(MAP2K2):c.284G>A (p.Gly95Asp)	Noonan syndrome and Noonan-related syndrome [RCV001813676]	uncertain significance	19	4117438	4117438	Human		name
151767790	CV1348760	deletion	NM_030662.4(MAP2K2):c.639del (p.Phe213fs)	RASopathy [RCV001896035]	uncertain significance	19	4101085	4101085	Human	1	name
151764785	CV1362398	duplication	NM_030662.4(MAP2K2):c.608dup (p.Asn203fs)	RASopathy [RCV001970588]	uncertain significance	19	4101115	4101116	Human	1	name
151804578	CV1362940	single nucleotide variant	NM_030662.4(MAP2K2):c.238G>A (p.Ala80Thr)	RASopathy [RCV002028406]\|not provided [RCV002225958]	likely benign\|uncertain significance	19	4117484	4117484	Human	1	name
151849091	CV1402951	single nucleotide variant	NM_030662.4(MAP2K2):c.292A>G (p.Met98Val)	Cardiovascular phenotype [RCV004041478]\|RASopathy [RCV001882357]	uncertain significance	19	4117430	4117430	Human	1	name
151727421	CV1412690	single nucleotide variant	NM_030662.4(MAP2K2):c.214T>G (p.Phe72Val)	RASopathy [RCV001945701]	uncertain significance	19	4117508	4117508	Human	1	name
8691898	CV141865	single nucleotide variant	NM_030662.4(MAP2K2):c.1005C>T (p.Asn335=)	Cardiovascular phenotype [RCV002408633]\|Noonan syndrome and Noonan-related syndrome [RCV001813387]\|RASopathy [RCV003654206]\|not specified [RCV000126679]	benign\|likely benign\|uncertain significance	19	4095429	4095429	Human	1	name
151884741	CV1424995	single nucleotide variant	NM_030662.4(MAP2K2):c.1074G>C (p.Ala358=)	Cardiovascular phenotype [RCV002422994]\|RASopathy [RCV001887210]\|not provided [RCV005242123]	likely benign	19	4094471	4094471	Human	1	name
152159032	CV1529174	single nucleotide variant	NM_030662.4(MAP2K2):c.1101C>G (p.Thr367=)	RASopathy [RCV002159303]	likely benign	19	4090700	4090700	Human	1	name
152052814	CV1607296	single nucleotide variant	NM_030662.4(MAP2K2):c.1053C>T (p.Ile351=)	RASopathy [RCV002109190]	likely benign	19	4094492	4094492	Human	1	name
152100044	CV1610765	single nucleotide variant	NM_030662.4(MAP2K2):c.1116C>T (p.Ser372=)	RASopathy [RCV002133158]	likely benign	19	4090685	4090685	Human	1	name
152039718	CV1643991	single nucleotide variant	NM_030662.4(MAP2K2):c.1159C>T (p.Leu387=)	RASopathy [RCV002125906]	likely benign	19	4090642	4090642	Human	1	name
9691802	CV176174	single nucleotide variant	NM_030662.4(MAP2K2):c.169T>A (p.Phe57Ile)	not specified [RCV000151011]	uncertain significance	19	4117553	4117553	Human		name
155697513	CV1790350	single nucleotide variant	NM_030662.4(MAP2K2):c.1162C>A (p.Arg388=)	Cardiovascular phenotype [RCV002375740]	likely benign	19	4090639	4090639	Human		name
155681641	CV1795614	single nucleotide variant	NM_030662.4(MAP2K2):c.1011G>A (p.Val337=)	Cardiovascular phenotype [RCV002456918]	likely benign	19	4095423	4095423	Human		name
9832812	CV179827	single nucleotide variant	NM_030662.4(MAP2K2):c.190G>T (p.Val64Phe)	RASopathy [RCV003539802]\|not provided [RCV000158040]	likely pathogenic	19	4117532	4117532	Human	1	name
9832810	CV179828	single nucleotide variant	NM_030662.4(MAP2K2):c.169T>C (p.Phe57Leu)	Cardiofaciocutaneous syndrome 4 [RCV004796053]\|RASopathy [RCV003447507]\|not provided [RCV000158037]	pathogenic\|likely pathogenic	19	4117553	4117553	Human	2	name
155667883	CV1799804	single nucleotide variant	NM_030662.4(MAP2K2):c.1017C>T (p.Thr339=)	Cardiofaciocutaneous syndrome 4 [RCV005025801]\|Cardiovascular phenotype [RCV002349558]	likely benign\|uncertain significance	19	4095417	4095417	Human	1	name
155672574	CV1809182	single nucleotide variant	NM_030662.4(MAP2K2):c.118A>C (p.Lys40Gln)	Cardiovascular phenotype [RCV002351333]	uncertain significance	19	4117604	4117604	Human		name
155694815	CV1844484	single nucleotide variant	NM_030662.4(MAP2K2):c.1089C>G (p.Leu363=)	Cardiovascular phenotype [RCV002443532]	likely benign	19	4094456	4094456	Human		name
155686822	CV1852715	single nucleotide variant	NM_030662.4(MAP2K2):c.1116C>G (p.Ser372=)	Cardiovascular phenotype [RCV002441654]	likely benign	19	4090685	4090685	Human		name
156155306	CV1931394	single nucleotide variant	NM_030662.4(MAP2K2):c.193G>A (p.Gly65Ser)	RASopathy [RCV002664043]	uncertain significance	19	4117529	4117529	Human	1	name
156208217	CV1932192	single nucleotide variant	NM_030662.4(MAP2K2):c.256G>A (p.Val86Ile)	RASopathy [RCV002643893]	uncertain significance	19	4117466	4117466	Human	1	name
156159810	CV1977743	single nucleotide variant	NM_030662.4(MAP2K2):c.245A>G (p.Asn82Ser)	RASopathy [RCV002594425]	uncertain significance	19	4117477	4117477	Human	1	name
156415770	CV1987503	single nucleotide variant	NM_030662.4(MAP2K2):c.178C>T (p.Gln60Ter)	RASopathy [RCV002609826]	uncertain significance	19	4117544	4117544	Human	1	name
156029444	CV2036792	single nucleotide variant	NM_030662.4(MAP2K2):c.1165C>T (p.Leu389=)	RASopathy [RCV002781048]	likely benign	19	4090636	4090636	Human	1	name
156079487	CV2053786	single nucleotide variant	NM_030662.4(MAP2K2):c.238G>T (p.Ala80Ser)	RASopathy [RCV002823806]	uncertain significance	19	4117484	4117484	Human	1	name
156100819	CV2107387	single nucleotide variant	NM_030662.4(MAP2K2):c.158G>A (p.Arg53Gln)	RASopathy [RCV002927045]\|not provided [RCV004779379]	likely pathogenic\|uncertain significance	19	4117564	4117564	Human	1	name
156025263	CV2112414	single nucleotide variant	NM_030662.4(MAP2K2):c.1188G>A (p.Thr396=)	RASopathy [RCV002909807]	likely benign	19	4090613	4090613	Human	1	name
155992108	CV2147640	single nucleotide variant	NM_030662.4(MAP2K2):c.209A>G (p.Asp70Gly)	RASopathy [RCV003016875]	uncertain significance	19	4117513	4117513	Human	1	name
156330555	CV2224284	single nucleotide variant	NM_030662.4(MAP2K2):c.191T>C (p.Val64Ala)	Cardiovascular phenotype [RCV004096105]	uncertain significance	19	4117531	4117531	Human		name
8560417	CV23311	single nucleotide variant	NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys)	Cardio-facio-cutaneous syndrome [RCV000208756]\|Cardiofaciocutaneous syndrome 4 [RCV000008761]\|RASopathy [RCV005252030]\|not provided [RCV000158038]	pathogenic\|not provided	19	4117552	4117552	Human	3	name
8560418	CV23312	single nucleotide variant	NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val)	Cardio-facio-cutaneous syndrome [RCV000521375]\|Cardiofaciocutaneous syndrome 4 [RCV000008762]	pathogenic\|likely pathogenic	19	4117553	4117553	Human	2	name
243052568	CV2417931	single nucleotide variant	NM_030662.4(MAP2K2):c.167C>A (p.Ala56Asp)	Cardiofaciocutaneous syndrome 4 [RCV003152996]	likely pathogenic	19	4117555	4117555	Human	1	name
11552194	CV257127	single nucleotide variant	NM_030662.4(MAP2K2):c.1074G>A (p.Ala358=)	Cardiovascular phenotype [RCV002418088]\|RASopathy [RCV000470994]\|not specified [RCV000254049]	benign\|likely benign	19	4094471	4094471	Human	1	name
11633349	CV264851	single nucleotide variant	NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn)	Cardiofaciocutaneous syndrome 4 [RCV001775109]\|RASopathy [RCV001855055]\|not provided [RCV000330980]	pathogenic\|likely pathogenic	19	4117539	4117539	Human	2	name
329951992	CV2668740	single nucleotide variant	NM_030662.4(MAP2K2):c.208G>A (p.Asp70Asn)	RASopathy [RCV003655412]\|not specified [RCV003230821]	uncertain significance	19	4117514	4117514	Human	1	name
401932132	CV2801605	single nucleotide variant	NM_030662.4(MAP2K2):c.277C>A (p.Pro93Thr)	MAP2K2-related disorder [RCV003408493]	uncertain significance	19	4117445	4117445	Human		name , trait , alternate_id
401905431	CV2831461	duplication	NM_030662.4(MAP2K2):c.903dup (p.Gly302fs)	Cardiofaciocutaneous syndrome 4 [RCV003444453]\|RASopathy [RCV003539492]	uncertain significance	19	4099216	4099217	Human	2	name
405160483	CV2882452	single nucleotide variant	NM_030662.4(MAP2K2):c.1158C>T (p.Thr386=)	RASopathy [RCV003540068]	likely benign	19	4090643	4090643	Human	1	name
405160841	CV2883025	single nucleotide variant	NM_030662.4(MAP2K2):c.205G>C (p.Asp69His)	Cardiovascular phenotype [RCV004992647]\|RASopathy [RCV003540100]	uncertain significance	19	4117517	4117517	Human	1	name
405160739	CV2886450	deletion	NM_030662.4(MAP2K2):c.903del (p.Arg303fs)	RASopathy [RCV003540092]	uncertain significance	19	4099217	4099217	Human	1	name
405165495	CV2911420	single nucleotide variant	NM_030662.4(MAP2K2):c.110T>A (p.Leu37Gln)	Cardiovascular phenotype [RCV004369442]\|RASopathy [RCV003540370]	uncertain significance	19	4117612	4117612	Human	1	name
405162982	CV2915856	single nucleotide variant	NM_030662.4(MAP2K2):c.188A>C (p.Lys63Thr)	RASopathy [RCV003540276]	uncertain significance	19	4117534	4117534	Human	1	name
405054499	CV2946649	single nucleotide variant	NM_030662.4(MAP2K2):c.157C>T (p.Arg53Trp)	RASopathy [RCV003655450]	uncertain significance	19	4117565	4117565	Human	1	name
405057856	CV2970060	single nucleotide variant	NM_030662.4(MAP2K2):c.166G>A (p.Ala56Thr)	RASopathy [RCV003655714]	uncertain significance	19	4117556	4117556	Human	1	name
405059666	CV2998579	duplication	NM_030662.4(MAP2K2):c.567dup (p.Ile190fs)	RASopathy [RCV003655856]	uncertain significance	19	4101241	4101242	Human	1	name
405050186	CV3039020	single nucleotide variant	NM_030662.4(MAP2K2):c.270G>T (p.Gln90His)	RASopathy [RCV003654540]	uncertain significance	19	4117452	4117452	Human	1	name
405048872	CV3043710	single nucleotide variant	NM_030662.4(MAP2K2):c.1050C>T (p.Leu350=)	Cardiovascular phenotype [RCV004634333]\|RASopathy [RCV003654595]	likely benign	19	4094495	4094495	Human	1	name
405051759	CV3066103	single nucleotide variant	NM_030662.4(MAP2K2):c.1041T>C (p.Asn347=)	RASopathy [RCV003654796]	likely benign	19	4095393	4095393	Human	1	name
405094062	CV3134691	single nucleotide variant	NM_030662.4(MAP2K2):c.1197C>G (p.Ala399=)	RASopathy [RCV003835037]\|not provided [RCV004585069]	likely benign	19	4090604	4090604	Human	1	name
405156954	CV3152551	single nucleotide variant	NM_030662.4(MAP2K2):c.185C>T (p.Ala62Val)	RASopathy [RCV003840478]	uncertain significance	19	4117537	4117537	Human	1	name
407425478	CV3411272	single nucleotide variant	NM_030662.4(MAP2K2):c.260C>T (p.Thr87Ile)	RASopathy [RCV005102002]\|not provided [RCV004588963]	uncertain significance	19	4117462	4117462	Human	1	name
408378686	CV3505283	single nucleotide variant	NM_030662.4(MAP2K2):c.211G>A (p.Asp71Asn)	MAP2K2-related disorder [RCV004727990]	uncertain significance	19	4117511	4117511	Human		name , trait , alternate_id
408374770	CV3507281	single nucleotide variant	NM_030662.4(MAP2K2):c.1191C>A (p.Arg397=)	MAP2K2-related disorder [RCV004747465]	likely benign	19	4090610	4090610	Human		name , trait , alternate_id
408390219	CV3519259	single nucleotide variant	NM_030662.4(MAP2K2):c.146A>C (p.Gln49Pro)	not provided [RCV004762568]	uncertain significance	19	4117576	4117576	Human		name
596923380	CV3530364	single nucleotide variant	NM_030662.4(MAP2K2):c.209A>T (p.Asp70Val)	not provided [RCV004776963]	uncertain significance	19	4117513	4117513	Human		name
12741062	CV360427	single nucleotide variant	NM_030662.4(MAP2K2):c.216C>G (p.Phe72Leu)	not specified [RCV000413956]	uncertain significance	19	4117506	4117506	Human		name
12740744	CV360436	single nucleotide variant	NM_030662.4(MAP2K2):c.247G>A (p.Gly83Ser)	Cardiofaciocutaneous syndrome 4 [RCV002502442]\|RASopathy [RCV001850988]\|not provided [RCV002223837]\|not specified [RCV000412991]	uncertain significance	19	4117475	4117475	Human	2	name
12835226	CV363057	single nucleotide variant	NM_030662.4(MAP2K2):c.179A>C (p.Gln60Pro)	Melanoma [RCV000421323]	likely pathogenic	19	4117543	4117543	Human	1	name
12841116	CV363058	single nucleotide variant	NM_030662.4(MAP2K2):c.136C>T (p.Leu46Phe)	Melanoma [RCV000432005]	likely pathogenic	19	4117586	4117586	Human	1	name
12847769	CV363059	single nucleotide variant	NM_030662.4(MAP2K2):c.103G>A (p.Val35Met)	Melanoma [RCV000444084]	likely pathogenic	19	4117619	4117619	Human	1	name
12834325	CV363328	single nucleotide variant	NM_030662.4(MAP2K2):c.171T>G (p.Phe57Leu)	Gastric adenocarcinoma [RCV000438529]\|Malignant melanoma of skin [RCV000417753]\|Pancreatic adenocarcinoma [RCV000428429]\|Squamous cell carcinoma of the head and neck [RCV000429600]	likely pathogenic	19	4117551	4117551	Human	3	name
597729911	CV3699984	single nucleotide variant	NM_030662.4(MAP2K2):c.1164G>A (p.Arg388=)	Cardiovascular phenotype [RCV004995634]	likely benign	19	4090637	4090637	Human		name
597662549	CV3709759	single nucleotide variant	NM_030662.4(MAP2K2):c.251G>T (p.Gly84Val)	Cardiofaciocutaneous syndrome 4 [RCV005028652]	uncertain significance	19	4117471	4117471	Human	1	name
597750981	CV3709760	single nucleotide variant	NM_030662.4(MAP2K2):c.176C>G (p.Thr59Ser)	Cardiofaciocutaneous syndrome 4 [RCV005015761]	uncertain significance	19	4117546	4117546	Human	1	name
597849022	CV3762290	single nucleotide variant	NM_030662.4(MAP2K2):c.151A>C (p.Lys51Gln)	not specified [RCV005087710]	uncertain significance	19	4117571	4117571	Human		name
597899194	CV3774388	single nucleotide variant	NM_030662.4(MAP2K2):c.286C>G (p.Leu96Val)	RASopathy [RCV005111924]	uncertain significance	19	4117436	4117436	Human	1	name
597899200	CV3774389	single nucleotide variant	NM_030662.4(MAP2K2):c.283G>C (p.Gly95Arg)	RASopathy [RCV005111925]	uncertain significance	19	4117439	4117439	Human	1	name
597899204	CV3774390	single nucleotide variant	NM_030662.4(MAP2K2):c.142G>C (p.Glu48Gln)	RASopathy [RCV005111926]	uncertain significance	19	4117580	4117580	Human	1	name
597878793	CV3783163	single nucleotide variant	NM_030662.4(MAP2K2):c.1074G>T (p.Ala358=)	RASopathy [RCV005123865]	likely benign	19	4094471	4094471	Human	1	name
597951679	CV3798395	single nucleotide variant	NM_030662.4(MAP2K2):c.1068G>A (p.Glu356=)	RASopathy [RCV005136175]	likely benign	19	4094477	4094477	Human	1	name
597929396	CV3862866	single nucleotide variant	NM_030662.4(MAP2K2):c.207C>A (p.Asp69Glu)	RASopathy [RCV005206400]	uncertain significance	19	4117515	4117515	Human	1	name
598127643	CV3888267	single nucleotide variant	NM_030662.4(MAP2K2):c.280T>C (p.Ser94Pro)	not provided [RCV005242953]	uncertain significance	19	4117442	4117442	Human		name
12899800	CV410619	single nucleotide variant	NM_030662.4(MAP2K2):c.143A>G (p.Glu48Gly)	RASopathy [RCV005090926]\|not provided [RCV000480980]	uncertain significance	19	4117579	4117579	Human	1	name
13210994	CV424697	single nucleotide variant	NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly)	Cardiofaciocutaneous syndrome 4 [RCV000496536]	likely pathogenic	19	4117531	4117531	Human	1	name
13520331	CV487815	single nucleotide variant	NM_030662.4(MAP2K2):c.170T>A (p.Phe57Tyr)	not provided [RCV000587607]	uncertain significance	19	4117552	4117552	Human		name
13519944	CV488001	single nucleotide variant	NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=)	Cardiovascular phenotype [RCV003160002]\|Noonan syndrome and Noonan-related syndrome [RCV001813513]\|RASopathy [RCV001486600]\|not provided [RCV001706681]\|not specified [RCV000604668]	likely benign\|uncertain significance	19	4090625	4090625	Human	1	name
13520251	CV488049	single nucleotide variant	NM_030662.4(MAP2K2):c.1197C>T (p.Ala399=)	Cardiovascular phenotype [RCV002341507]\|RASopathy [RCV001442973]\|not specified [RCV000608972]	likely benign\|uncertain significance	19	4090604	4090604	Human	1	name
9832811	CV49239	single nucleotide variant	NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu)	Cardiofaciocutaneous syndrome 1 [RCV000200295]\|Cardiofaciocutaneous syndrome 4 [RCV001781338]\|RASopathy [RCV001205317]\|not provided [RCV000158039]	pathogenic\|likely pathogenic	19	4117541	4117541	Human	3	name
9832813	CV49241	single nucleotide variant	NM_030662.4(MAP2K2):c.253G>T (p.Val85Leu)	not provided [RCV000158041]	uncertain significance	19	4117469	4117469	Human		name
12740751	CV49242	single nucleotide variant	NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)	Cardiovascular phenotype [RCV003162290]\|Neurofibromatosis-Noonan syndrome [RCV000824945]\|RASopathy [RCV001063339]\|not provided [RCV003153319]\|not specified [RCV000413006]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4117448	4117448	Human	2	name
9689127	CV49256	single nucleotide variant	NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)	Cardiofaciocutaneous syndrome 4 [RCV003129758]\|Cardiovascular phenotype [RCV004991982]\|RASopathy [RCV000521587]\|not provided [RCV000767152]\|not specified [RCV000154558]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4117441	4117441	Human	2	name
11637436	CV49258	single nucleotide variant	NM_030662.4(MAP2K2):c.291C>G (p.Ile97Met)	RASopathy [RCV002513331]\|not provided [RCV000285952]\|not specified [RCV003488354]	likely benign\|uncertain significance	19	4117431	4117431	Human	1	name
8609087	CV49316	single nucleotide variant	NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=)	Cardiovascular phenotype [RCV002336107]\|RASopathy [RCV000205301]\|not provided [RCV000590246]\|not specified [RCV000039472]	benign\|likely benign	19	4090607	4090607	Human	1	name
13526091	CV497522	single nucleotide variant	NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn)	Noonan syndrome 1 [RCV003451363]\|Noonan syndrome with multiple lentigines [RCV000824943]\|not provided [RCV004722970]\|not specified [RCV000603653]	likely pathogenic\|uncertain significance	19	4117539	4117539	Human	2	name
13540084	CV506826	single nucleotide variant	NM_030662.4(MAP2K2):c.1167G>A (p.Leu389=)	Cardiovascular phenotype [RCV002331061]\|RASopathy [RCV005091678]\|not specified [RCV000614207]	likely benign	19	4090634	4090634	Human	1	name
13535332	CV507820	single nucleotide variant	NM_030662.4(MAP2K2):c.1092A>G (p.Thr364=)	not specified [RCV000602266]	likely benign	19	4094453	4094453	Human		name
13626505	CV533051	single nucleotide variant	NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys)	Cardiofaciocutaneous syndrome 4 [RCV002485483]\|Cardiovascular phenotype [RCV002424552]\|RASopathy [RCV000654927]	uncertain significance	19	4117505	4117505	Human	2	name
13796556	CV553043	single nucleotide variant	NM_030662.4(MAP2K2):c.198A>T (p.Glu66Asp)	not provided [RCV000680643]	uncertain significance	19	4117524	4117524	Human		name
8609084	CV55391	single nucleotide variant	NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=)	Cardiovascular phenotype [RCV002381315]\|MAP2K2-related disorder [RCV003944927]\|Noonan syndrome and Noonan-related syndrome [RCV001813364]\|RASopathy [RCV000233235]\|not provided [RCV003415776]\|not specified [RCV000039469]	benign\|likely benign	19	4095414	4095414	Human	2	name , trait , alternate_id
8609085	CV55392	single nucleotide variant	NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=)	Cardiovascular phenotype [RCV002408525]\|RASopathy [RCV001088940]\|not provided [RCV000680295]\|not specified [RCV000039470]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4094480	4094480	Human	1	name
8609092	CV55397	single nucleotide variant	NM_030662.4(MAP2K2):c.289A>T (p.Ile97Phe)	RASopathy [RCV000545526]\|not provided [RCV000767153]\|not specified [RCV000039477]	uncertain significance	19	4117433	4117433	Human	1	name
13809442	CV574980	single nucleotide variant	NM_030662.4(MAP2K2):c.171T>A (p.Phe57Leu)	RASopathy [RCV000702132]	pathogenic\|uncertain significance	19	4117551	4117551	Human	1	name
14689804	CV621633	single nucleotide variant	NM_030662.4(MAP2K2):c.1092A>C (p.Thr364=)	Cardiofaciocutaneous syndrome 4 [RCV005021168]\|Noonan syndrome and Noonan-related syndrome [RCV001813551]\|RASopathy [RCV001856185]\|not specified [RCV000780396]	uncertain significance	19	4094453	4094453	Human	2	name
14702884	CV653985	single nucleotide variant	NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg)	Noonan syndrome [RCV000824942]	likely benign	19	4117573	4117573	Human	1	name
8611993	CV65599	single nucleotide variant	NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=)	Cardiovascular phenotype [RCV002460041]\|MAP2K2-related disorder [RCV003944960]\|Noonan syndrome and Noonan-related syndrome [RCV001813371]\|RASopathy [RCV000521790]\|not specified [RCV000043643]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	4090661	4090661	Human	2	name , trait , alternate_id
15133361	CV684819	single nucleotide variant	NM_030662.4(MAP2K2):c.1191C>T (p.Arg397=)	Cardiovascular phenotype [RCV002336765]\|RASopathy [RCV000863950]\|not provided [RCV001593076]\|not specified [RCV001193489]	likely benign	19	4090610	4090610	Human	1	name
34896168	CV917294	single nucleotide variant	NM_030662.4(MAP2K2):c.1080G>A (p.Leu360=)	RASopathy [RCV005094026]\|not specified [RCV001193488]	likely benign	19	4094465	4094465	Human	1	name
38473525	CV950802	single nucleotide variant	NM_030662.4(MAP2K2):c.239C>T (p.Ala80Val)	RASopathy [RCV001231849]	uncertain significance	19	4117483	4117483	Human	1	name
42723988	CV984000	single nucleotide variant	NM_030662.4(MAP2K2):c.1182A>G (p.Thr394=)	Cardiovascular phenotype [RCV002327627]\|RASopathy [RCV001422838]\|not provided [RCV001587321]\|not specified [RCV001290622]	likely benign	19	4090619	4090619	Human	1	name
126749237	CV998617	single nucleotide variant	NM_030662.4(MAP2K2):c.154A>C (p.Lys52Gln)	RASopathy [RCV001306589]\|not specified [RCV004699293]	likely pathogenic\|likely benign\|uncertain significance	19	4117568	4117568	Human	1	name
126733318	CV1021896	single nucleotide variant	NM_030662.4(MAP2K2):c.300G>T (p.Arg100Ser)	Cardiofaciocutaneous syndrome 4 [RCV001334285]	uncertain significance	19	4117422	4117422	Human	1	name
126760887	CV1034319	deletion	NM_030662.4(MAP2K2):c.1185del (p.Thr396fs)	RASopathy [RCV001340534]	uncertain significance	19	4090616	4090616	Human	1	name
126743754	CV1034320	single nucleotide variant	NM_030662.4(MAP2K2):c.794A>T (p.Tyr265Phe)	RASopathy [RCV001351187]	uncertain significance	19	4099326	4099326	Human	1	name
126748659	CV1034321	single nucleotide variant	NM_030662.4(MAP2K2):c.604G>T (p.Val202Leu)	RASopathy [RCV001337694]	uncertain significance	19	4101120	4101120	Human	1	name
126733187	CV1034322	single nucleotide variant	NM_030662.4(MAP2K2):c.515A>G (p.Lys172Arg)	RASopathy [RCV001349733]	uncertain significance	19	4102389	4102389	Human	1	name
126733608	CV1034323	single nucleotide variant	NM_030662.4(MAP2K2):c.358C>G (p.Gln120Glu)	RASopathy [RCV001349809]	uncertain significance	19	4110601	4110601	Human	1	name
127283927	CV1084742	single nucleotide variant	NM_030662.4(MAP2K2):c.813C>G (p.Asp271Glu)	Cardiovascular phenotype [RCV002420923]\|RASopathy [RCV001412095]\|not specified [RCV001806170]	likely benign\|uncertain significance	19	4099307	4099307	Human	1	name
150413126	CV1178385	single nucleotide variant	NM_030662.4(MAP2K2):c.974T>C (p.Ile325Thr)	not provided [RCV001547701]	uncertain significance	19	4097289	4097289	Human		name
150435327	CV1244388	single nucleotide variant	NM_030662.4(MAP2K2):c.928A>G (p.Met310Val)	RASopathy [RCV002539609]\|not provided [RCV001665379]	uncertain significance	19	4097335	4097335	Human	1	name
150528986	CV1288598	single nucleotide variant	NM_030662.4(MAP2K2):c.764T>C (p.Leu255Pro)	not provided [RCV001727066]	likely benign\|uncertain significance	19	4099356	4099356	Human		name
150555859	CV1305351	single nucleotide variant	NM_030662.4(MAP2K2):c.479A>G (p.Lys160Arg)	not provided [RCV001773284]	uncertain significance	19	4102425	4102425	Human		name
151236110	CV1319541	single nucleotide variant	NM_030662.4(MAP2K2):c.908G>T (p.Arg303Leu)	not provided [RCV001797486]	uncertain significance	19	4099212	4099212	Human		name
151351631	CV1321878	single nucleotide variant	NM_030662.4(MAP2K2):c.743C>T (p.Ser248Leu)	Cardiofaciocutaneous syndrome 4 [RCV005014672]\|RASopathy [RCV002541377]\|not provided [RCV001806548]	uncertain significance	19	4099377	4099377	Human	2	name
151352157	CV1325116	single nucleotide variant	NM_030662.4(MAP2K2):c.969C>G (p.Asp323Glu)	Cardiofaciocutaneous syndrome 4 [RCV002482343]\|Cardiovascular phenotype [RCV002386574]\|Noonan syndrome and Noonan-related syndrome [RCV001813672]\|RASopathy [RCV005095227]	uncertain significance	19	4097294	4097294	Human	2	name
151352160	CV1325118	single nucleotide variant	NM_030662.4(MAP2K2):c.907C>T (p.Arg303Cys)	Cardiofaciocutaneous syndrome 4 [RCV003992562]\|Noonan syndrome and Noonan-related syndrome [RCV001813674]\|RASopathy [RCV001869617]	uncertain significance	19	4099213	4099213	Human	2	name
151771010	CV1340184	single nucleotide variant	NM_030662.4(MAP2K2):c.703G>T (p.Ala235Ser)	RASopathy [RCV001874448]	uncertain significance	19	4101021	4101021	Human	1	name
151845726	CV1341842	single nucleotide variant	NM_030662.4(MAP2K2):c.908G>A (p.Arg303His)	Cardiovascular phenotype [RCV002370436]\|RASopathy [RCV001922086]	uncertain significance	19	4099212	4099212	Human	1	name
151784711	CV1344727	single nucleotide variant	NM_030662.4(MAP2K2):c.919G>A (p.Gly307Ser)	RASopathy [RCV001989454]	uncertain significance	19	4099201	4099201	Human	1	name
151804462	CV1362883	single nucleotide variant	NM_030662.4(MAP2K2):c.395G>T (p.Gly132Val)	RASopathy [RCV002028395]	likely pathogenic	19	4110564	4110564	Human	1	name
151838309	CV1382730	single nucleotide variant	NM_030662.4(MAP2K2):c.349C>T (p.Arg117Cys)	RASopathy [RCV002031522]	uncertain significance	19	4110610	4110610	Human	1	name
151714679	CV1388662	single nucleotide variant	NM_030662.4(MAP2K2):c.836T>C (p.Phe279Ser)	RASopathy [RCV002002697]	uncertain significance	19	4099284	4099284	Human	1	name
151711414	CV1395059	single nucleotide variant	NM_030662.4(MAP2K2):c.457G>A (p.Gly153Ser)	Cardiofaciocutaneous syndrome 4 [RCV005025556]\|Cardiovascular phenotype [RCV004631879]\|RASopathy [RCV001964375]	uncertain significance	19	4102447	4102447	Human	2	name
151859344	CV1403527	single nucleotide variant	NM_030662.4(MAP2K2):c.388A>G (p.Ile130Val)	Cardiovascular phenotype [RCV004043833]\|RASopathy [RCV001979923]	uncertain significance	19	4110571	4110571	Human	1	name
151775332	CV1424250	single nucleotide variant	NM_030662.4(MAP2K2):c.872C>T (p.Pro291Leu)	Cardiovascular phenotype [RCV003303622]\|RASopathy [RCV002025754]	uncertain significance	19	4099248	4099248	Human	1	name
151709996	CV1433497	single nucleotide variant	NM_030662.4(MAP2K2):c.499G>A (p.Glu167Lys)	RASopathy [RCV002001757]	uncertain significance	19	4102405	4102405	Human	1	name
151823137	CV1466231	single nucleotide variant	NM_030662.4(MAP2K2):c.940C>A (p.Pro314Thr)	RASopathy [RCV001879409]	uncertain significance	19	4097323	4097323	Human	1	name
151873796	CV1470269	single nucleotide variant	NM_030662.4(MAP2K2):c.521G>C (p.Ser174Thr)	RASopathy [RCV001885605]	uncertain significance	19	4102383	4102383	Human	1	name
151713949	CV1476882	single nucleotide variant	NM_030662.4(MAP2K2):c.554G>A (p.Arg185Gln)	RASopathy [RCV001908582]\|not provided [RCV004719191]	uncertain significance	19	4101255	4101255	Human	1	name
151834141	CV1489025	single nucleotide variant	NM_030662.4(MAP2K2):c.527C>T (p.Ala176Val)	Cardiovascular phenotype [RCV003299065]\|RASopathy [RCV001902105]	uncertain significance	19	4102377	4102377	Human	1	name
151766087	CV1496085	single nucleotide variant	NM_030662.4(MAP2K2):c.558G>T (p.Glu186Asp)	RASopathy [RCV001873987]	uncertain significance	19	4101251	4101251	Human	1	name
151734930	CV1502460	single nucleotide variant	NM_030662.4(MAP2K2):c.370G>A (p.Glu124Lys)	RASopathy [RCV001911281]	uncertain significance	19	4110589	4110589	Human	1	name
151759279	CV1503693	single nucleotide variant	NM_030662.4(MAP2K2):c.775G>C (p.Glu259Gln)	RASopathy [RCV002007666]	uncertain significance	19	4099345	4099345	Human	1	name
151773663	CV1504828	single nucleotide variant	NM_030662.4(MAP2K2):c.611C>G (p.Ser204Cys)	RASopathy [RCV002009087]	uncertain significance	19	4101113	4101113	Human	1	name
151888652	CV1512934	single nucleotide variant	NM_030662.4(MAP2K2):c.842G>C (p.Arg281Pro)	RASopathy [RCV001888011]	uncertain significance	19	4099278	4099278	Human	1	name
152037316	CV1669099	single nucleotide variant	NM_030662.4(MAP2K2):c.538G>T (p.Gly180Cys)	RASopathy [RCV003655347]\|not provided [RCV002224151]	uncertain significance	19	4101271	4101271	Human	1	name
152037875	CV1669185	single nucleotide variant	NM_030662.4(MAP2K2):c.991C>T (p.Pro331Ser)	not provided [RCV002224237]	uncertain significance	19	4095443	4095443	Human		name
152038719	CV1669317	single nucleotide variant	NM_030662.4(MAP2K2):c.449T>C (p.Met150Thr)	RASopathy [RCV003774654]\|not provided [RCV002224369]\|not specified [RCV003403731]	uncertain significance	19	4110510	4110510	Human	1	name
9689097	CV176028	single nucleotide variant	NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg)	Cardiofaciocutaneous syndrome 4 [RCV005025235]\|Cardiovascular phenotype [RCV003162628]\|MAP2K2-related disorder [RCV003416007]\|RASopathy [RCV001172272]\|not provided [RCV000681198]\|not specified [RCV000154524]	likely benign\|uncertain significance	19	4099314	4099314	Human	2	name , trait , alternate_id
9689088	CV176031	single nucleotide variant	NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)	Cardio-facio-cutaneous syndrome [RCV000208747]\|Noonan syndrome 1 [RCV003453160]\|Noonan syndrome [RCV000844676]\|RASopathy [RCV000154507]\|not provided [RCV000412815]	pathogenic\|likely pathogenic\|not provided	19	4110558	4110558	Human	4	name
9689061	CV176169	single nucleotide variant	NM_030662.4(MAP2K2):c.985C>T (p.Pro329Ser)	Cardiovascular phenotype [RCV004019851]\|RASopathy [RCV005089745]\|not specified [RCV000154480]	uncertain significance	19	4095449	4095449	Human	1	name
9689079	CV176170	single nucleotide variant	NM_030662.4(MAP2K2):c.658A>G (p.Ile220Val)	not specified [RCV000154498]	likely benign	19	4101066	4101066	Human		name
9691001	CV176171	single nucleotide variant	NM_030662.4(MAP2K2):c.578G>A (p.Arg193Gln)	Cardiovascular phenotype [RCV003162645]\|MAP2K2-related disorder [RCV003407584]\|RASopathy [RCV000686315]\|not specified [RCV000156700]	uncertain significance	19	4101231	4101231	Human	2	name , trait , alternate_id
155745678	CV1771583	single nucleotide variant	NM_030662.4(MAP2K2):c.547T>C (p.Tyr183His)	RASopathy [RCV002303364]	uncertain significance	19	4101262	4101262	Human	1	name
155750070	CV1772944	single nucleotide variant	NM_030662.4(MAP2K2):c.419A>C (p.Asp140Ala)	RASopathy [RCV002305319]	uncertain significance	19	4110540	4110540	Human	1	name
155677963	CV1776144	single nucleotide variant	NM_030662.4(MAP2K2):c.872C>G (p.Pro291Arg)	Cardiovascular phenotype [RCV002373088]\|RASopathy [RCV002299965]	uncertain significance	19	4099248	4099248	Human	1	name
155740846	CV1777050	single nucleotide variant	NM_030662.4(MAP2K2):c.976G>T (p.Val326Leu)	RASopathy [RCV002302373]	uncertain significance	19	4097287	4097287	Human	1	name
155671978	CV1796617	single nucleotide variant	NM_030662.4(MAP2K2):c.377A>G (p.Asn126Ser)	Cardiovascular phenotype [RCV002351129]	uncertain significance	19	4110582	4110582	Human		name
155686866	CV1796722	single nucleotide variant	NM_030662.4(MAP2K2):c.391G>T (p.Val131Leu)	Cardiofaciocutaneous syndrome 4 [RCV005019179]\|Cardiovascular phenotype [RCV002373177]\|RASopathy [RCV003655362]	uncertain significance	19	4110568	4110568	Human	2	name
155741115	CV1797552	single nucleotide variant	NM_030662.4(MAP2K2):c.415A>G (p.Ser139Gly)	Cardiovascular phenotype [RCV002333297]	uncertain significance	19	4110544	4110544	Human		name
9832805	CV179821	single nucleotide variant	NM_030662.4(MAP2K2):c.971A>G (p.Tyr324Cys)	Cardiofaciocutaneous syndrome 4 [RCV003325190]\|RASopathy [RCV001850203]\|not provided [RCV000158032]	uncertain significance	19	4097292	4097292	Human	2	name
9832796	CV179822	single nucleotide variant	NM_030662.4(MAP2K2):c.913G>A (p.Val305Ile)	Cardiofaciocutaneous syndrome 4 [RCV005025240]\|RASopathy [RCV001296102]\|not provided [RCV000158017]	likely benign\|uncertain significance	19	4099207	4099207	Human	2	name
9832800	CV179823	single nucleotide variant	NM_030662.4(MAP2K2):c.806C>T (p.Pro269Leu)	Cardiofaciocutaneous syndrome 4 [RCV005394542]\|RASopathy [RCV001857558]\|not provided [RCV000588108]	uncertain significance	19	4099314	4099314	Human	2	name
9832817	CV179824	single nucleotide variant	NM_030662.4(MAP2K2):c.787G>A (p.Gly263Arg)	RASopathy [RCV005055639]\|not provided [RCV000158047]\|not specified [RCV002247552]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	4099333	4099333	Human	1	name
9832798	CV179825	single nucleotide variant	NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp)	Cardiofaciocutaneous syndrome 4 [RCV002484967]\|MAP2K2-related disorder [RCV003895069]\|RASopathy [RCV000519027]\|not provided [RCV000158023]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4101274	4101274	Human	2	name , trait , alternate_id
9832816	CV179826	single nucleotide variant	NM_030662.4(MAP2K2):c.313C>G (p.Leu105Val)	not provided [RCV000158046]	uncertain significance	19	4110646	4110646	Human		name
155737378	CV1801909	single nucleotide variant	NM_030662.4(MAP2K2):c.484G>A (p.Ala162Thr)	Cardiovascular phenotype [RCV002330803]	uncertain significance	19	4102420	4102420	Human		name
155708647	CV1819306	single nucleotide variant	NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)	Cardiofaciocutaneous syndrome 4 [RCV003741308]\|Cardiovascular phenotype [RCV002378338]	uncertain significance	19	4099408	4099408	Human	1	name
155700136	CV1821016	single nucleotide variant	NM_030662.4(MAP2K2):c.899C>A (p.Pro300His)	Cardiovascular phenotype [RCV002376303]\|RASopathy [RCV003103548]	uncertain significance	19	4099221	4099221	Human	1	name
155804236	CV1866669	single nucleotide variant	NM_030662.4(MAP2K2):c.520A>G (p.Ser174Gly)	not provided [RCV002481217]	uncertain significance	19	4102384	4102384	Human		name
155944032	CV1878954	single nucleotide variant	NM_030662.4(MAP2K2):c.758T>C (p.Met253Thr)	Cardiofaciocutaneous syndrome 4 [RCV005019599]\|RASopathy [RCV003073730]	uncertain significance	19	4099362	4099362	Human	2	name
156271009	CV1915308	single nucleotide variant	NM_030662.4(MAP2K2):c.403G>A (p.Gly135Arg)	RASopathy [RCV002628094]\|not provided [RCV003329461]	uncertain significance	19	4110556	4110556	Human	1	name
156302760	CV1916199	single nucleotide variant	NM_030662.4(MAP2K2):c.871C>G (p.Pro291Ala)	Cardiofaciocutaneous syndrome 4 [RCV005233094]\|RASopathy [RCV002599253]	uncertain significance	19	4099249	4099249	Human	2	name
156295904	CV1924113	single nucleotide variant	NM_030662.4(MAP2K2):c.904G>A (p.Gly302Arg)	RASopathy [RCV002629014]	uncertain significance	19	4099216	4099216	Human	1	name
155944751	CV1935549	single nucleotide variant	NM_030662.4(MAP2K2):c.674A>C (p.Asn225Thr)	Cardiovascular phenotype [RCV003308138]\|not provided [RCV002511296]	uncertain significance	19	4101050	4101050	Human		name
156438945	CV1943867	single nucleotide variant	NM_030662.4(MAP2K2):c.901C>G (p.Pro301Ala)	RASopathy [RCV003108895]	uncertain significance	19	4099219	4099219	Human	1	name
156257831	CV2000174	single nucleotide variant	NM_030662.4(MAP2K2):c.350G>A (p.Arg117His)	RASopathy [RCV002627662]	uncertain significance	19	4110609	4110609	Human	1	name
156297485	CV2017136	single nucleotide variant	NM_030662.4(MAP2K2):c.334C>T (p.Arg112Trp)	RASopathy [RCV002715909]	likely pathogenic	19	4110625	4110625	Human	1	name
156275449	CV2023472	single nucleotide variant	NM_030662.4(MAP2K2):c.685G>A (p.Gly229Ser)	RASopathy [RCV002746784]	uncertain significance	19	4101039	4101039	Human	1	name
155951314	CV2026240	single nucleotide variant	NM_030662.4(MAP2K2):c.518T>C (p.Val173Ala)	RASopathy [RCV002730695]	uncertain significance	19	4102386	4102386	Human	1	name
156024990	CV2037187	single nucleotide variant	NM_030662.4(MAP2K2):c.925G>A (p.Gly309Arg)	Cardiofaciocutaneous syndrome 4 [RCV005019401]\|RASopathy [RCV002795770]	likely benign\|uncertain significance	19	4097338	4097338	Human	2	name
156321293	CV2057107	single nucleotide variant	NM_030662.4(MAP2K2):c.745G>T (p.Asp249Tyr)	RASopathy [RCV002810089]	uncertain significance	19	4099375	4099375	Human	1	name
156014916	CV2061552	single nucleotide variant	NM_030662.4(MAP2K2):c.565C>G (p.Gln189Glu)	RASopathy [RCV002820324]	uncertain significance	19	4101244	4101244	Human	1	name
156171108	CV2075566	single nucleotide variant	NM_030662.4(MAP2K2):c.602T>C (p.Leu201Pro)	RASopathy [RCV002851532]	uncertain significance	19	4101122	4101122	Human	1	name
155963213	CV2140829	single nucleotide variant	NM_030662.4(MAP2K2):c.551T>C (p.Leu184Pro)	RASopathy [RCV003015574]	uncertain significance	19	4101258	4101258	Human	1	name
156024285	CV2175079	single nucleotide variant	NM_030662.4(MAP2K2):c.767C>G (p.Ser256Cys)	RASopathy [RCV003035885]	uncertain significance	19	4099353	4099353	Human	1	name
156138740	CV2186737	single nucleotide variant	NM_030662.4(MAP2K2):c.454G>T (p.Gly152Cys)	RASopathy [RCV003056100]	uncertain significance	19	4102450	4102450	Human	1	name
156261772	CV2191062	single nucleotide variant	NM_030662.4(MAP2K2):c.542T>C (p.Leu181Ser)	Cardiovascular phenotype [RCV004070093]\|RASopathy [RCV003044143]	uncertain significance	19	4101267	4101267	Human	1	name
156128571	CV2220050	single nucleotide variant	NM_030662.4(MAP2K2):c.727C>A (p.His243Asn)	Cardiovascular phenotype [RCV004093927]	uncertain significance	19	4099393	4099393	Human		name
156124150	CV2227314	single nucleotide variant	NM_030662.4(MAP2K2):c.897G>C (p.Arg299Ser)	Cardiovascular phenotype [RCV004091861]	uncertain significance	19	4099223	4099223	Human		name
11091886	CV231026	single nucleotide variant	NM_030662.4(MAP2K2):c.326C>T (p.Pro109Leu)	Cardiofaciocutaneous syndrome 4 [RCV005016572]\|Noonan syndrome 1 [RCV003454599]\|RASopathy [RCV002517564]\|not provided [RCV000680337]\|not specified [RCV000217864]	uncertain significance	19	4110633	4110633	Human	3	name
8572472	CV23313	single nucleotide variant	NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)	Cardio-facio-cutaneous syndrome [RCV000008763]\|Cardiofaciocutaneous syndrome 4 [RCV000043675]\|MAP2K2-related disorder [RCV003390660]\|Noonan syndrome 1 [RCV003450621]\|Noonan syndrome and Noonan-related syndrome [RCV001813182]\|RASopathy [RCV000521479]\|not provided ... (more) [RCV000158022]	pathogenic\|likely pathogenic	19	4110559	4110559	Human	5	name , trait , alternate_id
8560419	CV23314	single nucleotide variant	NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln)	Cardio-facio-cutaneous syndrome [RCV000208770]\|Cardiofaciocutaneous syndrome 4 [RCV000008764]\|RASopathy [RCV004760323]\|not provided [RCV000158021]	pathogenic\|not provided	19	4110576	4110576	Human	3	name
243052992	CV2416248	single nucleotide variant	NM_030662.4(MAP2K2):c.317A>C (p.Glu106Ala)	not provided [RCV003149309]	uncertain significance	19	4110642	4110642	Human		name
329385302	CV2423100	single nucleotide variant	NM_030662.4(MAP2K2):c.743C>G (p.Ser248Trp)	Cardiovascular phenotype [RCV003177073]	uncertain significance	19	4099377	4099377	Human		name
329351057	CV2477887	single nucleotide variant	NM_030662.4(MAP2K2):c.360G>T (p.Gln120His)	not provided [RCV003224000]	uncertain significance	19	4110599	4110599	Human		name
329847148	CV2534307	single nucleotide variant	NM_030662.4(MAP2K2):c.455G>A (p.Gly152Asp)	not provided [RCV003228516]	uncertain significance	19	4102449	4102449	Human		name
11641744	CV264952	single nucleotide variant	NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp)	Cardiofaciocutaneous syndrome 4 [RCV000656742]\|Cardiovascular phenotype [RCV002374449]\|RASopathy [RCV001859537]\|not provided [RCV000360631]	uncertain significance	19	4097326	4097326	Human	2	name
11639162	CV265085	single nucleotide variant	NM_030662.4(MAP2K2):c.536G>A (p.Arg179Gln)	Cardiofaciocutaneous syndrome 4 [RCV005016664]\|Cardiovascular phenotype [RCV004021071]\|MAP2K2-related disorder [RCV003417878]\|RASopathy [RCV001348032]\|not provided [RCV000315212]	likely benign\|uncertain significance	19	4101273	4101273	Human	2	name , trait , alternate_id
329848154	CV2667773	single nucleotide variant	NM_030662.4(MAP2K2):c.653A>T (p.Gln218Leu)	RASopathy [RCV003539480]\|not provided [RCV003229340]	uncertain significance	19	4101071	4101071	Human	1	name
11639022	CV268100	single nucleotide variant	NM_030662.4(MAP2K2):c.904G>C (p.Gly302Arg)	not provided [RCV000313977]	uncertain significance	19	4099216	4099216	Human		name
11638789	CV269358	single nucleotide variant	NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln)	Cardiofaciocutaneous syndrome 4 [RCV000764204]\|RASopathy [RCV000690698]\|not provided [RCV000680326]	conflicting interpretations of pathogenicity\|uncertain significance	19	4099230	4099230	Human	2	name
401732902	CV2736779	single nucleotide variant	NM_030662.4(MAP2K2):c.757A>T (p.Met253Leu)	not provided [RCV003313541]	uncertain significance	19	4099363	4099363	Human		name
401720214	CV2737197	single nucleotide variant	NM_030662.4(MAP2K2):c.829G>A (p.Ala277Thr)	not provided [RCV003314136]	uncertain significance	19	4099291	4099291	Human		name
401864131	CV2773439	single nucleotide variant	NM_030662.4(MAP2K2):c.932A>G (p.Asp311Gly)	Cardiovascular phenotype [RCV004354076]	uncertain significance	19	4097331	4097331	Human		name
401920215	CV2796536	single nucleotide variant	NM_030662.4(MAP2K2):c.356T>C (p.Leu119Pro)	MAP2K2-related disorder [RCV003402572]	uncertain significance	19	4110603	4110603	Human		name , trait , alternate_id
405158906	CV2876640	single nucleotide variant	NM_030662.4(MAP2K2):c.727C>G (p.His243Asp)	RASopathy [RCV003539695]	uncertain significance	19	4099393	4099393	Human	1	name
405161863	CV2899716	single nucleotide variant	NM_030662.4(MAP2K2):c.386A>C (p.Tyr129Ser)	RASopathy [RCV003540185]	uncertain significance	19	4110573	4110573	Human	1	name
405163374	CV2913863	single nucleotide variant	NM_030662.4(MAP2K2):c.924C>G (p.His308Gln)	RASopathy [RCV003540306]	uncertain significance	19	4097339	4097339	Human	1	name
405164356	CV2928281	single nucleotide variant	NM_030662.4(MAP2K2):c.386A>G (p.Tyr129Cys)	RASopathy [RCV003540386]	uncertain significance	19	4110573	4110573	Human	1	name
405164485	CV2931439	single nucleotide variant	NM_030662.4(MAP2K2):c.548A>G (p.Tyr183Cys)	RASopathy [RCV003540397]	uncertain significance	19	4101261	4101261	Human	1	name
405164695	CV2931980	single nucleotide variant	NM_030662.4(MAP2K2):c.655C>G (p.Leu219Val)	RASopathy [RCV003540415]	uncertain significance	19	4101069	4101069	Human	1	name
405164890	CV2932638	single nucleotide variant	NM_030662.4(MAP2K2):c.713G>A (p.Arg238Gln)	RASopathy [RCV003540430]	uncertain significance	19	4099407	4099407	Human	1	name
405054451	CV2936646	single nucleotide variant	NM_030662.4(MAP2K2):c.806C>A (p.Pro269Gln)	RASopathy [RCV003655446]	uncertain significance	19	4099314	4099314	Human	1	name
405059918	CV2971606	single nucleotide variant	NM_030662.4(MAP2K2):c.956T>C (p.Phe319Ser)	RASopathy [RCV003655662]	uncertain significance	19	4097307	4097307	Human	1	name
405058731	CV2978947	single nucleotide variant	NM_030662.4(MAP2K2):c.694T>A (p.Ser232Thr)	RASopathy [RCV003655787]	uncertain significance	19	4101030	4101030	Human	1	name
405059488	CV2994597	single nucleotide variant	NM_030662.4(MAP2K2):c.886C>T (p.Pro296Ser)	RASopathy [RCV003655843]	uncertain significance	19	4099234	4099234	Human	1	name
405061585	CV3009670	single nucleotide variant	NM_030662.4(MAP2K2):c.674A>T (p.Asn225Ile)	RASopathy [RCV003655986]	uncertain significance	19	4101050	4101050	Human	1	name
405049548	CV3046085	single nucleotide variant	NM_030662.4(MAP2K2):c.532C>G (p.Leu178Val)	RASopathy [RCV003654648]	uncertain significance	19	4101277	4101277	Human	1	name
405048788	CV3050079	single nucleotide variant	NM_030662.4(MAP2K2):c.854A>T (p.Asp285Val)	RASopathy [RCV003654589]	uncertain significance	19	4099266	4099266	Human	1	name
405049726	CV3056331	single nucleotide variant	NM_030662.4(MAP2K2):c.626A>G (p.Lys209Arg)	RASopathy [RCV003654662]	uncertain significance	19	4101098	4101098	Human	1	name
405050463	CV3060587	single nucleotide variant	NM_030662.4(MAP2K2):c.791G>A (p.Arg264Lys)	RASopathy [RCV003654696]	uncertain significance	19	4099329	4099329	Human	1	name
405050622	CV3067824	single nucleotide variant	NM_030662.4(MAP2K2):c.874C>T (p.His292Tyr)	Cardiofaciocutaneous syndrome 4 [RCV005030239]\|RASopathy [RCV003654708]	uncertain significance	19	4099246	4099246	Human	2	name
405052443	CV3076231	single nucleotide variant	NM_030662.4(MAP2K2):c.305T>C (p.Leu102Pro)	RASopathy [RCV003654850]	uncertain significance	19	4110654	4110654	Human	1	name
405057065	CV3081379	single nucleotide variant	NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)	Cardiofaciocutaneous syndrome 4 [RCV003741142]	uncertain significance	19	4101074	4101074	Human	1	name
405007998	CV3117524	single nucleotide variant	NM_030662.4(MAP2K2):c.946A>G (p.Met316Val)	Cardiofaciocutaneous syndrome 4 [RCV005030288]\|RASopathy [RCV003828579]	uncertain significance	19	4097317	4097317	Human	2	name
405214330	CV3143115	single nucleotide variant	NM_030662.4(MAP2K2):c.572T>C (p.Met191Thr)	RASopathy [RCV003846278]	uncertain significance	19	4101237	4101237	Human	1	name
405216781	CV3143436	single nucleotide variant	NM_030662.4(MAP2K2):c.539G>A (p.Gly180Asp)	RASopathy [RCV003846600]	uncertain significance	19	4101270	4101270	Human	1	name
405188072	CV3156583	single nucleotide variant	NM_030662.4(MAP2K2):c.739C>T (p.Gln247Ter)	RASopathy [RCV003859461]	uncertain significance	19	4099381	4099381	Human	1	name
405254830	CV3175559	single nucleotide variant	NM_030662.4(MAP2K2):c.917G>T (p.Ser306Ile)	RASopathy [RCV003871826]	uncertain significance	19	4099203	4099203	Human	1	name
405291121	CV3222078	single nucleotide variant	NM_030662.4(MAP2K2):c.404G>T (p.Gly135Val)	Cardiofaciocutaneous syndrome 4 [RCV003984897]\|RASopathy [RCV005103149]	likely pathogenic\|uncertain significance	19	4110555	4110555	Human	2	name
405683291	CV3387822	single nucleotide variant	NM_030662.4(MAP2K2):c.346A>G (p.Ile116Val)	Cardiovascular phenotype [RCV004517797]\|RASopathy [RCV005100634]	uncertain significance	19	4110613	4110613	Human	1	name
405683305	CV3387826	single nucleotide variant	NM_030662.4(MAP2K2):c.794A>G (p.Tyr265Cys)	Cardiofaciocutaneous syndrome 4 [RCV005023557]\|Cardiovascular phenotype [RCV004517801]	uncertain significance	19	4099326	4099326	Human	1	name
407493703	CV3446442	single nucleotide variant	NM_030662.4(MAP2K2):c.857G>A (p.Gly286Glu)	Cardiovascular phenotype [RCV004642807]\|RASopathy [RCV005102280]	uncertain significance	19	4099263	4099263	Human	1	name
408380621	CV3523608	single nucleotide variant	NM_030662.4(MAP2K2):c.368A>C (p.His123Pro)	not provided [RCV004766006]	likely pathogenic	19	4110591	4110591	Human		name
408388940	CV3529152	single nucleotide variant	NM_030662.4(MAP2K2):c.734C>T (p.Ser245Leu)	not provided [RCV004773974]	uncertain significance	19	4099386	4099386	Human		name
12740807	CV360426	single nucleotide variant	NM_030662.4(MAP2K2):c.834C>G (p.Ile278Met)	RASopathy [RCV000458371]\|not specified [RCV000413176]	uncertain significance	19	4099286	4099286	Human	1	name
12740994	CV360428	single nucleotide variant	NM_030662.4(MAP2K2):c.541T>A (p.Leu181Met)	not specified [RCV000413749]	uncertain significance	19	4101268	4101268	Human		name
12740664	CV360554	single nucleotide variant	NM_030662.4(MAP2K2):c.826G>C (p.Glu276Gln)	Cardiovascular phenotype [RCV005372303]\|RASopathy [RCV001861423]\|not specified [RCV000412732]	uncertain significance	19	4099294	4099294	Human	1	name
12839847	CV363055	single nucleotide variant	NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp)	Cardio-facio-cutaneous syndrome [RCV000824947]\|Cardiofaciocutaneous syndrome 4 [RCV000995803]\|RASopathy [RCV001851015]	pathogenic\|likely pathogenic	19	4110583	4110583	Human	3	name
12844722	CV363056	single nucleotide variant	NM_030662.4(MAP2K2):c.373T>A (p.Cys125Ser)	Melanoma [RCV000438500]	likely pathogenic	19	4110586	4110586	Human	1	name
597729914	CV3699985	single nucleotide variant	NM_030662.4(MAP2K2):c.836T>G (p.Phe279Cys)	Cardiovascular phenotype [RCV004995635]	uncertain significance	19	4099284	4099284	Human		name
597729927	CV3699990	single nucleotide variant	NM_030662.4(MAP2K2):c.646A>G (p.Ser216Gly)	Cardiovascular phenotype [RCV004995639]	uncertain significance	19	4101078	4101078	Human		name
597750969	CV3709751	single nucleotide variant	NM_030662.4(MAP2K2):c.695C>T (p.Ser232Phe)	Cardiofaciocutaneous syndrome 4 [RCV005015759]	uncertain significance	19	4101029	4101029	Human	1	name
597662509	CV3709752	single nucleotide variant	NM_030662.4(MAP2K2):c.674A>G (p.Asn225Ser)	Cardiofaciocutaneous syndrome 4 [RCV005028646]\|RASopathy [RCV005063228]	uncertain significance	19	4101050	4101050	Human	2	name
597662515	CV3709753	single nucleotide variant	NM_030662.4(MAP2K2):c.590C>T (p.Pro197Leu)	Cardiofaciocutaneous syndrome 4 [RCV005028647]\|RASopathy [RCV005112716]	uncertain significance	19	4101134	4101134	Human	2	name
597662522	CV3709754	single nucleotide variant	NM_030662.4(MAP2K2):c.500A>G (p.Glu167Gly)	Cardiofaciocutaneous syndrome 4 [RCV005028648]	uncertain significance	19	4102404	4102404	Human	1	name
597662529	CV3709755	single nucleotide variant	NM_030662.4(MAP2K2):c.491G>A (p.Arg164Lys)	Cardiofaciocutaneous syndrome 4 [RCV005028649]	uncertain significance	19	4102413	4102413	Human	1	name
597750974	CV3709756	single nucleotide variant	NM_030662.4(MAP2K2):c.464T>C (p.Leu155Pro)	Cardiofaciocutaneous syndrome 4 [RCV005015760]	uncertain significance	19	4102440	4102440	Human	1	name
597653792	CV3731356	single nucleotide variant	NM_030662.4(MAP2K2):c.792G>T (p.Arg264Ser)	not provided [RCV005001536]	uncertain significance	19	4099328	4099328	Human		name
597833716	CV3735068	single nucleotide variant	NM_030662.4(MAP2K2):c.329C>T (p.Ala110Val)	not provided [RCV005054801]	uncertain significance	19	4110630	4110630	Human		name
597834362	CV3735840	single nucleotide variant	NM_030662.4(MAP2K2):c.833T>C (p.Ile278Thr)	not provided [RCV005063703]	uncertain significance	19	4099287	4099287	Human		name
597956160	CV3754548	single nucleotide variant	NM_030662.4(MAP2K2):c.413A>G (p.Tyr138Cys)	RASopathy [RCV005080398]	uncertain significance	19	4110546	4110546	Human	1	name
597956375	CV3754620	single nucleotide variant	NM_030662.4(MAP2K2):c.488A>G (p.Lys163Arg)	RASopathy [RCV005080470]	uncertain significance	19	4102416	4102416	Human	1	name
597836954	CV3761416	single nucleotide variant	NM_030662.4(MAP2K2):c.823C>G (p.Leu275Val)	RASopathy [RCV005085787]	uncertain significance	19	4099297	4099297	Human	1	name
12847667	CV376562	single nucleotide variant	NM_030662.4(MAP2K2):c.475C>G (p.Leu159Val)	not provided [RCV000443892]	uncertain significance	19	4102429	4102429	Human		name
597905364	CV3772909	single nucleotide variant	NM_030662.4(MAP2K2):c.624C>G (p.Ile208Met)	RASopathy [RCV005112974]	uncertain significance	19	4101100	4101100	Human	1	name
597885812	CV3774379	single nucleotide variant	NM_030662.4(MAP2K2):c.926G>A (p.Gly309Glu)	RASopathy [RCV005109933]	uncertain significance	19	4097337	4097337	Human	1	name
597885818	CV3774380	single nucleotide variant	NM_030662.4(MAP2K2):c.797C>G (p.Pro266Arg)	RASopathy [RCV005109934]	uncertain significance	19	4099323	4099323	Human	1	name
597885825	CV3774381	single nucleotide variant	NM_030662.4(MAP2K2):c.664T>C (p.Ser222Pro)	RASopathy [RCV005109935]	uncertain significance	19	4101060	4101060	Human	1	name
597885831	CV3774382	single nucleotide variant	NM_030662.4(MAP2K2):c.649G>C (p.Gly217Arg)	RASopathy [RCV005109936]	uncertain significance	19	4101075	4101075	Human	1	name
597885836	CV3774383	single nucleotide variant	NM_030662.4(MAP2K2):c.595A>C (p.Asn199His)	RASopathy [RCV005109937]	uncertain significance	19	4101129	4101129	Human	1	name
597885843	CV3774384	single nucleotide variant	NM_030662.4(MAP2K2):c.511G>A (p.Gly171Arg)	RASopathy [RCV005109938]	uncertain significance	19	4102393	4102393	Human	1	name
597885849	CV3774385	single nucleotide variant	NM_030662.4(MAP2K2):c.497C>T (p.Pro166Leu)	RASopathy [RCV005109939]	uncertain significance	19	4102407	4102407	Human	1	name
597885855	CV3774386	single nucleotide variant	NM_030662.4(MAP2K2):c.447C>G (p.His149Gln)	RASopathy [RCV005109940]	uncertain significance	19	4110512	4110512	Human	1	name
597899188	CV3774387	single nucleotide variant	NM_030662.4(MAP2K2):c.390C>G (p.Ile130Met)	RASopathy [RCV005111923]	uncertain significance	19	4110569	4110569	Human	1	name
597954749	CV3796069	single nucleotide variant	NM_030662.4(MAP2K2):c.338A>G (p.Asn113Ser)	RASopathy [RCV005136886]	uncertain significance	19	4110621	4110621	Human	1	name
597857650	CV3822278	single nucleotide variant	NM_030662.4(MAP2K2):c.853G>C (p.Asp285His)	RASopathy [RCV005174576]	uncertain significance	19	4099267	4099267	Human	1	name
597844349	CV3827447	single nucleotide variant	NM_030662.4(MAP2K2):c.539G>T (p.Gly180Val)	RASopathy [RCV005172718]	uncertain significance	19	4101270	4101270	Human	1	name
597883196	CV3834144	single nucleotide variant	NM_030662.4(MAP2K2):c.496C>T (p.Pro166Ser)	RASopathy [RCV005178463]	uncertain significance	19	4102408	4102408	Human	1	name
597891263	CV3856555	single nucleotide variant	NM_030662.4(MAP2K2):c.448A>G (p.Met150Val)	RASopathy [RCV005200620]	uncertain significance	19	4110511	4110511	Human	1	name
597935434	CV3863678	single nucleotide variant	NM_030662.4(MAP2K2):c.700A>G (p.Met234Val)	not provided [RCV005207491]	uncertain significance	19	4101024	4101024	Human		name
8568157	CV39126	single nucleotide variant	NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)	Cardiofaciocutaneous syndrome 4 [RCV000023088]\|Cardiovascular phenotype [RCV005372225]\|RASopathy [RCV000149835]\|not provided [RCV000413893]	pathogenic\|likely pathogenic	19	4110564	4110564	Human	2	name
598196846	CV3988649	single nucleotide variant	NM_030662.4(MAP2K2):c.560A>G (p.Lys187Arg)	Cardiovascular phenotype [RCV005375335]	uncertain significance	19	4101249	4101249	Human		name
12881208	CV403729	single nucleotide variant	NM_030662.4(MAP2K2):c.325C>G (p.Pro109Ala)	Noonan syndrome [RCV000824946]\|RASopathy [RCV000457414]\|not provided [RCV005414499]	likely benign\|uncertain significance	19	4110634	4110634	Human	2	name
12901367	CV410613	single nucleotide variant	NM_030662.4(MAP2K2):c.952A>G (p.Ile318Val)	Cardiovascular phenotype [RCV003278838]\|RASopathy [RCV003539906]\|not provided [RCV000484509]	likely benign\|uncertain significance	19	4097311	4097311	Human	1	name
12900451	CV410616	single nucleotide variant	NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)	Cardiofaciocutaneous syndrome 4 [RCV003129871]\|Cardiovascular phenotype [RCV002420244]\|RASopathy [RCV002526970]\|not provided [RCV000680366]\|not specified [RCV000482431]	likely benign\|uncertain significance	19	4099306	4099306	Human	2	name
12901148	CV410617	single nucleotide variant	NM_030662.4(MAP2K2):c.454G>A (p.Gly152Ser)	RASopathy [RCV005056058]\|not provided [RCV000484028]	uncertain significance	19	4102450	4102450	Human	1	name
12905545	CV413490	single nucleotide variant	NM_030662.4(MAP2K2):c.682G>A (p.Val228Met)	RASopathy [RCV003766733]\|not provided [RCV000487640]	uncertain significance	19	4101042	4101042	Human	1	name
13211886	CV426315	single nucleotide variant	NM_030662.4(MAP2K2):c.331A>T (p.Ile111Phe)	Cardiofaciocutaneous syndrome 4 [RCV005018837]\|RASopathy [RCV002527158]\|not provided [RCV000498041]	uncertain significance	19	4110628	4110628	Human	2	name
13504513	CV442539	single nucleotide variant	NM_030662.4(MAP2K2):c.847G>T (p.Val283Leu)	Cardiofaciocutaneous syndrome 4 [RCV005018888]\|RASopathy [RCV000520355]	likely benign\|uncertain significance	19	4099273	4099273	Human	2	name
13520572	CV487813	single nucleotide variant	NM_030662.4(MAP2K2):c.627G>C (p.Lys209Asn)	RASopathy [RCV001860145]\|not provided [RCV000587985]	uncertain significance	19	4101097	4101097	Human	1	name
13519781	CV488053	single nucleotide variant	NM_030662.4(MAP2K2):c.847G>A (p.Val283Met)	Cardiofaciocutaneous syndrome 4 [RCV005027696]\|RASopathy [RCV001295722]\|not specified [RCV003994033]	likely benign\|uncertain significance	19	4099273	4099273	Human	2	name
13536049	CV49260	single nucleotide variant	NM_030662.4(MAP2K2):c.320T>A (p.Ile107Asn)	RASopathy [RCV001059467]\|not provided [RCV004799753]\|not specified [RCV000608440]	uncertain significance	19	4110639	4110639	Human	1	name
156329415	CV49261	single nucleotide variant	NM_030662.4(MAP2K2):c.335G>A (p.Arg112Gln)	Cardiofaciocutaneous syndrome 4 [RCV005019475]\|RASopathy [RCV002938281]	likely pathogenic\|uncertain significance	19	4110624	4110624	Human	2	name
9688987	CV49262	single nucleotide variant	NM_030662.4(MAP2K2):c.383C>G (p.Pro128Arg)	not specified [RCV000154387]	uncertain significance	19	4110576	4110576	Human		name
150431138	CV49271	single nucleotide variant	NM_030662.4(MAP2K2):c.485C>T (p.Ala162Val)	RASopathy [RCV001866196]\|not provided [RCV001580898]	uncertain significance	19	4102419	4102419	Human	1	name
155742448	CV49273	single nucleotide variant	NM_030662.4(MAP2K2):c.526G>A (p.Ala176Thr)	Cardiovascular phenotype [RCV002344386]\|RASopathy [RCV003096675]	uncertain significance	19	4102378	4102378	Human	1	name
156028275	CV49277	single nucleotide variant	NM_030662.4(MAP2K2):c.545C>T (p.Ala182Val)	RASopathy [RCV002909945]	uncertain significance	19	4101264	4101264	Human	1	name
26917375	CV49282	single nucleotide variant	NM_030662.4(MAP2K2):c.604G>A (p.Val202Met)	Cardiofaciocutaneous syndrome 4 [RCV003129759]\|Cardiovascular phenotype [RCV004018725]\|RASopathy [RCV001042609]\|not specified [RCV001582507]	uncertain significance	19	4101120	4101120	Human	2	name
9689112	CV49283	single nucleotide variant	NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)	Cardio-facio-cutaneous syndrome [RCV000524055]\|Noonan syndrome [RCV000844675]\|RASopathy [RCV000158024]\|not provided [RCV000254662]	pathogenic\|likely pathogenic	19	4101105	4101105	Human	3	name
155713905	CV49284	single nucleotide variant	NM_030662.4(MAP2K2):c.649G>A (p.Gly217Ser)	Cardiovascular phenotype [RCV002362026]\|RASopathy [RCV005096950]	uncertain significance	19	4101075	4101075	Human	1	name
156416388	CV49287	single nucleotide variant	NM_030662.4(MAP2K2):c.691C>T (p.Arg231Cys)	RASopathy [RCV002610151]	uncertain significance	19	4101033	4101033	Human	1	name
9832799	CV49288	single nucleotide variant	NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu)	Cardiofaciocutaneous syndrome 4 [RCV001849290]\|Noonan syndrome and Noonan-related syndrome [RCV000788004]\|Noonan syndrome with multiple lentigines [RCV000824948]\|RASopathy [RCV000466246]\|not provided [RCV000158025]	likely pathogenic\|uncertain significance	19	4101032	4101032	Human	3	name
9832801	CV49294	single nucleotide variant	NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg)	Cardiofaciocutaneous syndrome 4 [RCV000990136]\|MAP2K2-related disorder [RCV003952390]\|RASopathy [RCV000522446]\|not provided [RCV000158027]\|not specified [RCV000781517]	likely pathogenic\|likely benign\|uncertain significance	19	4099302	4099302	Human	2	name , trait , alternate_id
8609110	CV49296	single nucleotide variant	NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser)	Cardiovascular phenotype [RCV003343604]\|MAP2K2-related disorder [RCV003944871]\|Noonan syndrome [RCV000824950]\|RASopathy [RCV000522371]\|not provided [RCV000680293]\|not specified [RCV000039495]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4099276	4099276	Human	3	name , trait , alternate_id
9832802	CV49298	single nucleotide variant	NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)	Noonan syndrome [RCV001261064]\|RASopathy [RCV001480813]\|not provided [RCV000680294]\|not specified [RCV000158029]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4099267	4099267	Human	2	name
9832818	CV49299	single nucleotide variant	NM_030662.4(MAP2K2):c.856G>A (p.Gly286Arg)	Cardiofaciocutaneous syndrome 4 [RCV005394191]\|Cardiovascular phenotype [RCV004018726]\|RASopathy [RCV000654943]\|not provided [RCV000158048]	conflicting interpretations of pathogenicity\|uncertain significance	19	4099264	4099264	Human	2	name
9832803	CV49300	single nucleotide variant	NM_030662.4(MAP2K2):c.884C>T (p.Ser295Leu)	Cardiofaciocutaneous syndrome 4 [RCV005016318]\|Cardiovascular phenotype [RCV005372226]\|RASopathy [RCV001852682]\|not provided [RCV000158030]	likely benign\|uncertain significance	19	4099236	4099236	Human	2	name
13520727	CV49301	single nucleotide variant	NM_030662.4(MAP2K2):c.889C>T (p.Arg297Trp)	RASopathy [RCV001243507]\|not provided [RCV000588230]	likely benign\|uncertain significance	19	4099231	4099231	Human	1	name
9689073	CV49302	single nucleotide variant	NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu)	Cardiovascular phenotype [RCV005364906]\|Hypertrophic cardiomyopathy [RCV000852749]\|Noonan syndrome and Noonan-related syndrome [RCV001813317]\|RASopathy [RCV000227476]\|not provided [RCV000586661]\|not specified [RCV000154492]	benign\|likely benign	19	4099227	4099227	Human	3	name
9832804	CV49309	single nucleotide variant	NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln)	Cardiofaciocutaneous syndrome 4 [RCV002482944]\|Cardiovascular phenotype [RCV002371815]\|Noonan syndrome [RCV000761056]\|Noonan syndrome and Noonan-related syndrome [RCV001813318]\|RASopathy [RCV001062526]\|not provided [RCV000767154]\|not specified [RCV000158031]	uncertain significance	19	4097325	4097325	Human	3	name
13612232	CV514098	single nucleotide variant	NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu)	MAP2K2-related disorder [RCV003420086]\|Migraine [RCV000626968]\|RASopathy [RCV002529800]	uncertain significance	19	4102390	4102390	Human	17	name , trait , alternate_id
13626536	CV533045	single nucleotide variant	NM_030662.4(MAP2K2):c.692G>A (p.Arg231His)	Cardiofaciocutaneous syndrome 4 [RCV005019090]\|MAP2K2-related disorder [RCV004745538]\|Noonan syndrome and Noonan-related syndrome [RCV000788005]\|RASopathy [RCV000654976]\|not provided [RCV001797120]	uncertain significance	19	4101032	4101032	Human	2	name , trait , alternate_id
13626503	CV533539	single nucleotide variant	NM_030662.4(MAP2K2):c.865G>A (p.Gly289Arg)	Cardiovascular phenotype [RCV003278976]\|RASopathy [RCV000654923]	uncertain significance	19	4099255	4099255	Human	1	name
13626533	CV533550	single nucleotide variant	NM_030662.4(MAP2K2):c.453C>G (p.Asp151Glu)	RASopathy [RCV000654973]\|not provided [RCV001507910]	uncertain significance	19	4102451	4102451	Human	1	name
13797764	CV553036	single nucleotide variant	NM_030662.4(MAP2K2):c.605T>G (p.Val202Gly)	not provided [RCV000681413]	uncertain significance	19	4101119	4101119	Human		name
8609094	CV55399	single nucleotide variant	NM_030662.4(MAP2K2):c.391G>A (p.Val131Met)	RASopathy [RCV003764692]\|not specified [RCV000039479]	uncertain significance	19	4110568	4110568	Human	1	name
8609108	CV55407	single nucleotide variant	NM_030662.4(MAP2K2):c.784G>A (p.Val262Ile)	RASopathy [RCV000519690]\|not specified [RCV000039493]	benign\|likely benign\|uncertain significance	19	4099336	4099336	Human	1	name
13813587	CV570803	single nucleotide variant	NM_030662.4(MAP2K2):c.842G>A (p.Arg281Gln)	Cardiofaciocutaneous syndrome 4 [RCV005021062]\|RASopathy [RCV000690261]\|not provided [RCV001815372]	uncertain significance	19	4099278	4099278	Human	2	name
13820059	CV570804	single nucleotide variant	NM_030662.4(MAP2K2):c.380C>T (p.Ser127Leu)	RASopathy [RCV000694725]\|not provided [RCV001756198]	uncertain significance	19	4110579	4110579	Human	1	name
13817013	CV574979	single nucleotide variant	NM_030662.4(MAP2K2):c.491G>T (p.Arg164Met)	Cardiofaciocutaneous syndrome 4 [RCV005021066]\|RASopathy [RCV000692716]\|not specified [RCV001264512]	uncertain significance	19	4102413	4102413	Human	2	name
13831746	CV582243	single nucleotide variant	NM_030662.4(MAP2K2):c.707C>T (p.Pro236Leu)	Cardiovascular phenotype [RCV003338769]\|RASopathy [RCV003540854]\|not provided [RCV000722428]	uncertain significance	19	4099413	4099413	Human	1	name
14396245	CV612026	single nucleotide variant	NM_030662.4(MAP2K2):c.523A>G (p.Ile175Val)	Noonan syndrome [RCV000761014]	uncertain significance	19	4102381	4102381	Human	1	name
14689802	CV621637	single nucleotide variant	NM_030662.4(MAP2K2):c.352G>A (p.Glu118Lys)	MAP2K2-related disorder [RCV003396358]\|not specified [RCV000780395]	uncertain significance	19	4110607	4110607	Human	1	name , trait , alternate_id
14702630	CV648137	single nucleotide variant	NM_030662.4(MAP2K2):c.376A>C (p.Asn126His)	RASopathy [RCV000807052]	uncertain significance	19	4110583	4110583	Human	1	name
14745386	CV653829	single nucleotide variant	NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu)	Castleman-Kojima disease [RCV000824698]\|MAP2K2-related disorder [RCV003908112]\|not provided [RCV003313157]	pathogenic	19	4110576	4110576	Human	2	name , trait , alternate_id
14702889	CV653983	single nucleotide variant	NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)	Cardio-facio-cutaneous syndrome [RCV000824949]\|Cardiofaciocutaneous syndrome 4 [RCV005029515]\|RASopathy [RCV002536037]\|not provided [RCV001772146]	likely benign\|uncertain significance	19	4099309	4099309	Human	3	name
26885720	CV847719	single nucleotide variant	NM_030662.4(MAP2K2):c.689C>T (p.Thr230Met)	RASopathy [RCV001065619]	uncertain significance	19	4101035	4101035	Human	1	name
26891650	CV847720	single nucleotide variant	NM_030662.4(MAP2K2):c.682G>C (p.Val228Leu)	MAP2K2-related disorder [RCV003983827]\|RASopathy [RCV001046546]	uncertain significance	19	4101042	4101042	Human	2	name , trait , alternate_id
26900220	CV847721	single nucleotide variant	NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)	Cardiovascular phenotype [RCV002365783]\|Noonan syndrome [RCV001261063]\|RASopathy [RCV001071204]	likely benign\|uncertain significance	19	4101081	4101081	Human	2	name
26908909	CV847722	single nucleotide variant	NM_030662.4(MAP2K2):c.553C>T (p.Arg185Ter)	Cardiofaciocutaneous syndrome 4 [RCV005021350]\|RASopathy [RCV001038407]	uncertain significance	19	4101256	4101256	Human	2	name
26913883	CV847723	single nucleotide variant	NM_030662.4(MAP2K2):c.433A>G (p.Ile145Val)	Cardiofaciocutaneous syndrome 4 [RCV005021382]\|RASopathy [RCV001054554]	uncertain significance	19	4110526	4110526	Human	2	name
26909260	CV847724	single nucleotide variant	NM_030662.4(MAP2K2):c.335G>T (p.Arg112Leu)	Cardiofaciocutaneous syndrome 4 [RCV003741245]\|RASopathy [RCV001038482]	likely pathogenic	19	4110624	4110624	Human	2	name
34891273	CV906038	single nucleotide variant	NM_030662.4(MAP2K2):c.841C>T (p.Arg281Trp)	Cardiovascular phenotype [RCV002445415]\|RASopathy [RCV001873656]\|not specified [RCV001174923]	likely benign\|uncertain significance	19	4099279	4099279	Human	1	name
38460709	CV919868	single nucleotide variant	NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn)	Cardiofaciocutaneous syndrome 4 [RCV001196823]\|RASopathy [RCV002560226]	uncertain significance	19	4101063	4101063	Human	2	name
38478005	CV928974	single nucleotide variant	NM_030662.4(MAP2K2):c.556G>C (p.Glu186Gln)	RASopathy [RCV001216409]\|not provided [RCV004783920]	uncertain significance	19	4101253	4101253	Human	1	name
38456974	CV950799	single nucleotide variant	NM_030662.4(MAP2K2):c.986C>T (p.Pro329Leu)	Cardiovascular phenotype [RCV002379873]\|RASopathy [RCV001228528]	uncertain significance	19	4095448	4095448	Human	1	name
38456978	CV950800	single nucleotide variant	NM_030662.4(MAP2K2):c.577C>T (p.Arg193Ter)	Cardiovascular phenotype [RCV002356972]\|RASopathy [RCV001228529]	uncertain significance	19	4101232	4101232	Human	1	name
38488449	CV950801	single nucleotide variant	NM_030662.4(MAP2K2):c.333C>G (p.Ile111Met)	RASopathy [RCV001238021]\|not provided [RCV004762014]	uncertain significance	19	4110626	4110626	Human	1	name
40813858	CV969695	single nucleotide variant	NM_030662.4(MAP2K2):c.640G>A (p.Gly214Arg)	MAP2K2-related disorder [RCV003405468]\|Noonan syndrome [RCV001261062]\|RASopathy [RCV001880002]\|not provided [RCV004778033]	likely benign\|uncertain significance	19	4101084	4101084	Human	3	name , trait , alternate_id
126732998	CV998616	single nucleotide variant	NM_030662.4(MAP2K2):c.740A>C (p.Gln247Pro)	Cardiovascular phenotype [RCV002384368]\|RASopathy [RCV001304190]	uncertain significance	19	4099380	4099380	Human	1	name
126746331	CV1015383	single nucleotide variant	NM_030662.4(MAP2K2):c.1195G>A (p.Ala399Thr)	RASopathy [RCV002546258]\|not specified [RCV001328431]	uncertain significance	19	4090606	4090606	Human	1	name
126733312	CV1021895	single nucleotide variant	NM_030662.4(MAP2K2):c.1042A>G (p.Lys348Glu)	Cardiofaciocutaneous syndrome 4 [RCV001334283]\|RASopathy [RCV001865804]	uncertain significance	19	4095392	4095392	Human	2	name
150556279	CV1296840	single nucleotide variant	NM_030662.4(MAP2K2):c.1151G>A (p.Cys384Tyr)	RASopathy [RCV003539403]\|not provided [RCV001774130]	uncertain significance	19	4090650	4090650	Human	1	name
151352156	CV1325115	single nucleotide variant	NM_030662.4(MAP2K2):c.1106T>C (p.Ile369Thr)	Noonan syndrome and Noonan-related syndrome [RCV001813671]\|not provided [RCV004699481]	uncertain significance	19	4090695	4090695	Human		name
151798259	CV1337084	single nucleotide variant	NM_030662.4(MAP2K2):c.1100C>A (p.Thr367Asn)	RASopathy [RCV002047740]	uncertain significance	19	4090701	4090701	Human	1	name
151758875	CV1342995	single nucleotide variant	NM_030662.4(MAP2K2):c.1010T>G (p.Val337Gly)	Cardiovascular phenotype [RCV004641897]\|RASopathy [RCV002024134]	uncertain significance	19	4095424	4095424	Human	1	name
151821792	CV1355022	single nucleotide variant	NM_030662.4(MAP2K2):c.1138G>A (p.Ala380Thr)	RASopathy [RCV001934214]	uncertain significance	19	4090663	4090663	Human	1	name
151880195	CV1359994	single nucleotide variant	NM_030662.4(MAP2K2):c.1141G>A (p.Gly381Ser)	RASopathy [RCV002036760]\|not provided [RCV003481257]	uncertain significance	19	4090660	4090660	Human	1	name
151793476	CV1423086	single nucleotide variant	NM_030662.4(MAP2K2):c.1019C>G (p.Pro340Arg)	RASopathy [RCV001917041]	uncertain significance	19	4095415	4095415	Human	1	name
151749393	CV1430326	single nucleotide variant	NM_030662.4(MAP2K2):c.1157C>T (p.Thr386Ile)	RASopathy [RCV002006704]	uncertain significance	19	4090644	4090644	Human	1	name
151774619	CV1450215	single nucleotide variant	NM_030662.4(MAP2K2):c.1109A>T (p.Lys370Met)	RASopathy [RCV001915310]	uncertain significance	19	4090692	4090692	Human	1	name
151839696	CV1487658	single nucleotide variant	NM_030662.4(MAP2K2):c.1022A>C (p.Asp341Ala)	Cardiovascular phenotype [RCV004043549]\|RASopathy [RCV001935956]	uncertain significance	19	4095412	4095412	Human	1	name
151734118	CV1494394	single nucleotide variant	NM_030662.4(MAP2K2):c.1087C>T (p.Leu363Phe)	RASopathy [RCV001946356]	uncertain significance	19	4094458	4094458	Human	1	name
151855550	CV1506749	single nucleotide variant	NM_030662.4(MAP2K2):c.1021G>A (p.Asp341Asn)	Cardiovascular phenotype [RCV002407055]\|RASopathy [RCV001937904]	uncertain significance	19	4095413	4095413	Human	1	name
155645676	CV1709030	single nucleotide variant	NM_030662.4(MAP2K2):c.1192A>C (p.Thr398Pro)	not provided [RCV002291906]	uncertain significance	19	4090609	4090609	Human		name
155699160	CV1778817	single nucleotide variant	NM_030662.4(MAP2K2):c.1026C>A (p.Phe342Leu)	RASopathy [RCV002299840]	uncertain significance	19	4095408	4095408	Human	1	name
9832809	CV179818	single nucleotide variant	NM_030662.4(MAP2K2):c.1189C>T (p.Arg397Cys)	RASopathy [RCV001056752]\|not provided [RCV000158036]	conflicting interpretations of pathogenicity\|uncertain significance	19	4090612	4090612	Human	1	name
9832808	CV179819	single nucleotide variant	NM_030662.4(MAP2K2):c.1180A>T (p.Thr394Ser)	RASopathy [RCV003654214]\|not provided [RCV000158035]	uncertain significance	19	4090621	4090621	Human	1	name
9832806	CV179820	single nucleotide variant	NM_030662.4(MAP2K2):c.1085T>C (p.Met362Thr)	RASopathy [RCV000796637]\|not provided [RCV001721006]	likely benign\|uncertain significance	19	4094460	4094460	Human	1	name
155664285	CV1855165	single nucleotide variant	NM_030662.4(MAP2K2):c.1117G>A (p.Glu373Lys)	Cardiovascular phenotype [RCV002435121]\|RASopathy [RCV003539461]\|not specified [RCV004801215]	uncertain significance	19	4090684	4090684	Human	1	name
156385003	CV1883648	single nucleotide variant	NM_030662.4(MAP2K2):c.1170C>G (p.Asn390Lys)	Cardiovascular phenotype [RCV004992492]\|RASopathy [RCV003093600]	uncertain significance	19	4090631	4090631	Human	1	name
156186575	CV1933848	single nucleotide variant	NM_030662.4(MAP2K2):c.1112G>T (p.Arg371Leu)	RASopathy [RCV002625219]	uncertain significance	19	4090689	4090689	Human	1	name
156324564	CV1975558	single nucleotide variant	NM_030662.4(MAP2K2):c.1007G>A (p.Gly336Asp)	RASopathy [RCV002630573]	uncertain significance	19	4095427	4095427	Human	1	name
156298689	CV2017195	single nucleotide variant	NM_030662.4(MAP2K2):c.1073C>T (p.Ala358Val)	RASopathy [RCV002715957]	uncertain significance	19	4094472	4094472	Human	1	name
156148154	CV2026693	single nucleotide variant	NM_030662.4(MAP2K2):c.1117G>C (p.Glu373Gln)	RASopathy [RCV002741137]	uncertain significance	19	4090684	4090684	Human	1	name
156204733	CV2134925	single nucleotide variant	NM_030662.4(MAP2K2):c.1051A>C (p.Ile351Leu)	RASopathy [RCV002985354]	uncertain significance	19	4094494	4094494	Human	1	name
155942430	CV2143052	single nucleotide variant	NM_030662.4(MAP2K2):c.1196C>T (p.Ala399Val)	RASopathy [RCV002994141]	uncertain significance	19	4090605	4090605	Human	1	name
11636456	CV265075	single nucleotide variant	NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)	Cardiofaciocutaneous syndrome 4 [RCV000764203]\|Noonan syndrome [RCV000824953]\|RASopathy [RCV001030088]\|not provided [RCV000588572]\|not specified [RCV000269273]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4090614	4090614	Human	3	name
11641046	CV269674	single nucleotide variant	NM_030662.4(MAP2K2):c.1064C>T (p.Ala355Val)	Cardiovascular phenotype [RCV002411153]\|RASopathy [RCV003539874]\|not provided [RCV000725661]\|not specified [RCV000349966]	uncertain significance	19	4094481	4094481	Human	1	name
401752557	CV2707049	single nucleotide variant	NM_030662.4(MAP2K2):c.1198G>T (p.Val400Leu)	Cardiofaciocutaneous syndrome 4 [RCV004723252]\|Cardiovascular phenotype [RCV004321635]	likely benign\|uncertain significance	19	4090603	4090603	Human	1	name
401854880	CV2753349	single nucleotide variant	NM_030662.4(MAP2K2):c.1063G>C (p.Ala355Pro)	Cardiovascular phenotype [RCV003338978]	uncertain significance	19	4094482	4094482	Human		name
401877062	CV2793334	single nucleotide variant	NM_030662.4(MAP2K2):c.1120G>A (p.Val374Met)	Cardiovascular phenotype [RCV004362147]	uncertain significance	19	4090681	4090681	Human		name
401908283	CV2801325	single nucleotide variant	NM_030662.4(MAP2K2):c.1043A>G (p.Lys348Arg)	MAP2K2-related disorder [RCV003397566]\|RASopathy [RCV003655425]\|not provided [RCV005235714]	uncertain significance	19	4095391	4095391	Human	2	name , trait , alternate_id
405157045	CV2864785	single nucleotide variant	NM_030662.4(MAP2K2):c.1130T>C (p.Val377Ala)	RASopathy [RCV003539526]	uncertain significance	19	4090671	4090671	Human	1	name
405165098	CV2923923	single nucleotide variant	NM_030662.4(MAP2K2):c.1123G>T (p.Glu375Ter)	RASopathy [RCV003540449]	uncertain significance	19	4090678	4090678	Human	1	name
405058030	CV2983948	single nucleotide variant	NM_030662.4(MAP2K2):c.1105A>C (p.Ile369Leu)	RASopathy [RCV003655730]	uncertain significance	19	4090696	4090696	Human	1	name
405060787	CV3004095	single nucleotide variant	NM_030662.4(MAP2K2):c.1150T>C (p.Cys384Arg)	Cardiovascular phenotype [RCV004371788]\|RASopathy [RCV003655923]	uncertain significance	19	4090651	4090651	Human	1	name
405047765	CV3021062	single nucleotide variant	NM_030662.4(MAP2K2):c.1190G>T (p.Arg397Leu)	RASopathy [RCV003654507]	uncertain significance	19	4090611	4090611	Human	1	name
405048506	CV3043091	single nucleotide variant	NM_030662.4(MAP2K2):c.1178G>T (p.Gly393Val)	RASopathy [RCV003654568]	uncertain significance	19	4090623	4090623	Human	1	name
405050442	CV3060401	single nucleotide variant	NM_030662.4(MAP2K2):c.1157C>A (p.Thr386Asn)	RASopathy [RCV003654694]	uncertain significance	19	4090644	4090644	Human	1	name
405051384	CV3062249	single nucleotide variant	NM_030662.4(MAP2K2):c.1031A>G (p.Glu344Gly)	RASopathy [RCV003654767]	uncertain significance	19	4095403	4095403	Human	1	name
405052321	CV3073541	single nucleotide variant	NM_030662.4(MAP2K2):c.1181C>T (p.Thr394Ile)	RASopathy [RCV003654840]	uncertain significance	19	4090620	4090620	Human	1	name
405168574	CV3122333	single nucleotide variant	NM_030662.4(MAP2K2):c.1085T>G (p.Met362Arg)	RASopathy [RCV003818922]	uncertain significance	19	4094460	4094460	Human	1	name
405016737	CV3139057	single nucleotide variant	NM_030662.4(MAP2K2):c.1193C>G (p.Thr398Ser)	RASopathy [RCV003829394]	uncertain significance	19	4090608	4090608	Human	1	name
402475168	CV3172707	single nucleotide variant	NM_030662.4(MAP2K2):c.1090A>G (p.Thr364Ala)	RASopathy [RCV003875125]	uncertain significance	19	4094455	4094455	Human	1	name
408380690	CV3523630	single nucleotide variant	NM_030662.4(MAP2K2):c.1001C>G (p.Pro334Arg)	not provided [RCV004766028]	uncertain significance	19	4095433	4095433	Human		name
12740820	CV360399	single nucleotide variant	NM_030662.4(MAP2K2):c.1039A>G (p.Asn347Asp)	Cardiovascular phenotype [RCV003168601]\|not specified [RCV000413213]	uncertain significance	19	4095395	4095395	Human		name
12740736	CV360552	single nucleotide variant	NM_030662.4(MAP2K2):c.1036G>A (p.Val346Ile)	Cardiofaciocutaneous syndrome 4 [RCV005027473]\|Cardiovascular phenotype [RCV004022164]\|RASopathy [RCV001861414]\|not provided [RCV001718806]\|not specified [RCV000412966]	uncertain significance	19	4095398	4095398	Human	2	name
597662504	CV3709748	single nucleotide variant	NM_030662.4(MAP2K2):c.1086G>A (p.Met362Ile)	Cardiofaciocutaneous syndrome 4 [RCV005028645]\|RASopathy [RCV005112715]	uncertain significance	19	4094459	4094459	Human	2	name
597885792	CV3774376	single nucleotide variant	NM_030662.4(MAP2K2):c.1079T>C (p.Leu360Pro)	RASopathy [RCV005109930]	uncertain significance	19	4094466	4094466	Human	1	name
597885798	CV3774377	single nucleotide variant	NM_030662.4(MAP2K2):c.1025T>G (p.Phe342Cys)	RASopathy [RCV005109931]	uncertain significance	19	4095409	4095409	Human	1	name
597885805	CV3774378	single nucleotide variant	NM_030662.4(MAP2K2):c.1018C>T (p.Pro340Ser)	RASopathy [RCV005109932]	uncertain significance	19	4095416	4095416	Human	1	name
597933194	CV3810672	single nucleotide variant	NM_030662.4(MAP2K2):c.1072G>A (p.Ala358Thr)	RASopathy [RCV005157381]	uncertain significance	19	4094473	4094473	Human	1	name
598175019	CV3890952	single nucleotide variant	NM_030662.4(MAP2K2):c.1049T>G (p.Leu350Arg)	not provided [RCV005251805]	uncertain significance	19	4094496	4094496	Human		name
598196840	CV3988647	single nucleotide variant	NM_030662.4(MAP2K2):c.1139C>T (p.Ala380Val)	Cardiovascular phenotype [RCV005375333]	uncertain significance	19	4090662	4090662	Human		name
617154383	CV4022603	single nucleotide variant	NM_030662.4(MAP2K2):c.1021G>T (p.Asp341Tyr)	not provided [RCV005429960]	uncertain significance	19	4095413	4095413	Human		name
9832807	CV49312	single nucleotide variant	NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln)	Cardiofaciocutaneous syndrome 4 [RCV005016319]\|RASopathy [RCV000546588]\|not provided [RCV000158034]\|not specified [RCV000781515]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4090689	4090689	Human	2	name
9689090	CV49313	single nucleotide variant	NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)	Cardiofaciocutaneous syndrome 4 [RCV001334284]\|Cardiovascular phenotype [RCV002354182]\|Noonan syndrome [RCV000824952]\|RASopathy [RCV000200611]\|not provided [RCV000680296]\|not specified [RCV000154509]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4090639	4090639	Human	3	name
14746592	CV49314	single nucleotide variant	NM_030662.4(MAP2K2):c.1190G>A (p.Arg397His)	Cardiofaciocutaneous syndrome 4 [RCV005016320]\|Cardiovascular phenotype [RCV004639124]\|RASopathy [RCV000813491]	uncertain significance	19	4090611	4090611	Human	2	name
14691377	CV49317	single nucleotide variant	NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met)	Noonan syndrome and Noonan-related syndrome [RCV001813319]\|RASopathy [RCV000866602]\|not provided [RCV001610309]\|not specified [RCV000781516]	benign\|likely benign	19	4090603	4090603	Human	1	name
13536148	CV497519	single nucleotide variant	NM_030662.4(MAP2K2):c.1061C>T (p.Pro354Leu)	Cardiovascular phenotype [RCV003278941]\|not provided [RCV002223228]\|not specified [RCV000608579]	uncertain significance	19	4094484	4094484	Human		name
13796774	CV553026	insertion	NM_030662.4(MAP2K2):c.1047-140_1047-139insG	not provided [RCV000680747]	benign	19	4094637	4094638	Human		name
13818543	CV574978	single nucleotide variant	NM_030662.4(MAP2K2):c.1111C>T (p.Arg371Trp)	Cardiofaciocutaneous syndrome 4 [RCV005027863]\|Cardiovascular phenotype [RCV004025165]\|RASopathy [RCV000693780]\|not provided [RCV001200613]	uncertain significance	19	4090690	4090690	Human	2	name
14737146	CV648136	single nucleotide variant	NM_030662.4(MAP2K2):c.1006G>A (p.Gly336Ser)	Cardiofaciocutaneous syndrome 4 [RCV005021217]\|RASopathy [RCV000803908]	uncertain significance	19	4095428	4095428	Human	2	name
14702892	CV653982	single nucleotide variant	NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg)	Noonan syndrome [RCV000824951]	uncertain significance	19	4090692	4090692	Human	1	name
26912431	CV847718	single nucleotide variant	NM_030662.4(MAP2K2):c.1177G>A (p.Gly393Ser)	RASopathy [RCV001039331]\|not specified [RCV001193485]	uncertain significance	19	4090624	4090624	Human	1	name
126728674	CV985654	single nucleotide variant	NM_030662.4(MAP2K2):c.1019C>T (p.Pro340Leu)	RASopathy [RCV005094355]\|not specified [RCV001293480]	uncertain significance	19	4095415	4095415	Human	1	name
126757236	CV998614	single nucleotide variant	NM_030662.4(MAP2K2):c.1184C>G (p.Pro395Arg)	RASopathy [RCV001298822]	uncertain significance	19	4090617	4090617	Human	1	name
126767164	CV998615	single nucleotide variant	NM_030662.4(MAP2K2):c.1163G>A (p.Arg388Gln)	Cardiofaciocutaneous syndrome 4 [RCV005014367]\|RASopathy [RCV001302177]\|not provided [RCV004692447]	uncertain significance	19	4090638	4090638	Human	2	name
156211435	CV2028430	microsatellite	NM_030662.4(MAP2K2):c.151AAG[1] (p.Lys52del)	RASopathy [RCV002711778]	uncertain significance	19	4117566	4117568	Human		name
12899956	CV410614	indel	NM_030662.4(MAP2K2):c.919+10_919+12delinsAAG	not provided [RCV000481333]\|not specified [RCV001174840]	likely benign\|uncertain significance	19	4099189	4099191	Human		name
13626525	CV533115	microsatellite	NM_030662.4(MAP2K2):c.288CAT[1] (p.Ile97del)	Cardiofaciocutaneous syndrome 4 [RCV002245069]\|RASopathy [RCV000654959]	uncertain significance	19	4117429	4117431	Human		name
151879054	CV1419200	microsatellite	NM_030662.4(MAP2K2):c.973_974del (p.Ile325fs)	Cardiofaciocutaneous syndrome 4 [RCV005016879]\|RASopathy [RCV001982275]	uncertain significance	19	4097289	4097290	Human		name
156143179	CV2163924	deletion	NM_030662.4(MAP2K2):c.760_761del (p.Gly254fs)	RASopathy [RCV003022595]	uncertain significance	19	4099359	4099360	Human	1	name
156270169	CV2178945	deletion	NM_030662.4(MAP2K2):c.794_824del (p.Tyr265fs)	RASopathy [RCV003044425]	uncertain significance	19	4099296	4099326	Human	1	name
12912055	CV248722	deletion	NM_030662.4(MAP2K2):c.210_212del (p.Asp71del)	Smith-Magenis Syndrome-like [RCV000490823]	pathogenic	19	4117510	4117512	Human	1	name
597864278	CV3767017	deletion	NM_030662.4(MAP2K2):c.655_658del (p.Leu219fs)	RASopathy [RCV005106539]	uncertain significance	19	4101066	4101069	Human	1	name
597865208	CV3861181	deletion	NM_030662.4(MAP2K2):c.485_492del (p.Ala162fs)	RASopathy [RCV005196529]	uncertain significance	19	4102412	4102419	Human	1	name
13518208	CV494977	microsatellite	NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del)	Cardiovascular phenotype [RCV004024874]\|RASopathy [RCV001215485]\|not provided [RCV001538822]\|not specified [RCV000597122]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	4099255	4099257	Human		name
12901778	CV410615	insertion	NM_030662.4(MAP2K2):c.899_900insT (p.Gly302fs)	not provided [RCV000485520]	uncertain significance	19	4099220	4099221	Human		name
156330212	CV2180931	deletion	NM_030662.4(MAP2K2):c.1043_1046del (p.Lys348fs)	RASopathy [RCV003047164]	uncertain significance	19	4095388	4095391	Human	1	name
9832815	CV49236	indel	NM_030662.4(MAP2K2):c.83_84delinsAA (p.Gly28Glu)	RASopathy [RCV001852681]\|not provided [RCV000158045]	uncertain significance	19	4123792	4123793	Human		name
13626522	CV533117	indel	NM_030662.4(MAP2K2):c.191_192delinsCT (p.Val64Ala)	Cardiovascular phenotype [RCV004025944]\|RASopathy [RCV000654954]	uncertain significance	19	4117530	4117531	Human		name
405056516	CV2951637	indel	NM_030662.4(MAP2K2):c.659_660delinsCA (p.Ile220Thr)	RASopathy [RCV003655584]	uncertain significance	19	4101064	4101065	Human		name
405060669	CV3000635	indel	NM_030662.4(MAP2K2):c.536_537delinsTT (p.Arg179Leu)	RASopathy [RCV003655913]	uncertain significance	19	4101272	4101273	Human		name
14702886	CV653984	deletion	NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del)	Cardio-facio-cutaneous syndrome [RCV000824944]	likely pathogenic	19	4117530	4117535	Human	1	name
150436874	CV1249770	microsatellite	NM_030662.4(MAP2K2):c.92+229_92+230insCCCTCGGGGGAGGACGGGGCAGGGGA	not provided [RCV001665684]	benign	19	4123554	4123555	Human		name

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