Ptpn11 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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1003 records found for search term Ptpn11

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150408211	CV1194610	single nucleotide variant	NM_002834.5(PTPN11):c.*6C>T	not provided [RCV001572564]	likely benign	12	112504770	112504770	Human		name
401797506	CV2742275	single nucleotide variant	NM_002834.5(PTPN11):c.-7G>A	not specified [RCV003324456]	uncertain significance	12	112419105	112419105	Human		name
597706544	CV3585021	single nucleotide variant	NM_002834.5(PTPN11):c.-2A>C	Cardiovascular phenotype [RCV004989443]	uncertain significance	12	112419110	112419110	Human		name
150508823	CV1244927	single nucleotide variant	NM_002834.5(PTPN11):c.-33G>A	not provided [RCV001659178]	benign	12	112419079	112419079	Human		name
150482150	CV1261574	single nucleotide variant	NM_002834.5(PTPN11):c.*48C>T	not provided [RCV001686177]	benign	12	112505840	112505840	Human		name
8692575	CV142544	single nucleotide variant	NM_002834.5(PTPN11):c.-45T>G	not specified [RCV000127655]	benign	12	112419067	112419067	Human		name
8692578	CV142547	single nucleotide variant	NM_002834.3(PTPN11):c.*13A>G	not specified [RCV000127658]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	112504777	112504777	Human		name
8692579	CV142548	single nucleotide variant	NM_002834.5(PTPN11):c.*50C>T	LEOPARD syndrome 1 [RCV000385112]\|Metachondromatosis [RCV000270635]\|Noonan syndrome 1 [RCV000328023]\|PTPN11-related disorder [RCV004532530]\|not specified [RCV000127659]	benign\|likely benign\|uncertain significance	12	112505842	112505842	Human	5	name , alternate_id
13527611	CV503884	single nucleotide variant	NM_002834.5(PTPN11):c.-13G>A	not specified [RCV000599819]	likely benign\|conflicting interpretations of pathogenicity	12	112419099	112419099	Human		name
28867250	CV869294	single nucleotide variant	NM_002834.5(PTPN11):c.-77G>A	LEOPARD syndrome 1 [RCV001111690]\|Metachondromatosis [RCV001111691]\|Noonan syndrome 1 [RCV001111692]	uncertain significance	12	112419035	112419035	Human	3	name
28867252	CV869295	single nucleotide variant	NM_002834.5(PTPN11):c.-71C>T	LEOPARD syndrome 1 [RCV001112155]\|Metachondromatosis [RCV001111693]\|Noonan syndrome 1 [RCV001111694]	uncertain significance	12	112419041	112419041	Human	3	name
28867510	CV869296	single nucleotide variant	NM_002834.5(PTPN11):c.*64C>G	LEOPARD syndrome 1 [RCV001109583]\|Metachondromatosis [RCV001111863]\|Noonan syndrome 1 [RCV001111864]	uncertain significance	12	112505856	112505856	Human	3	name
151739507	CV1490405	single nucleotide variant	NM_002834.5(PTPN11):c.14+6G>A	RASopathy [RCV001985100]	uncertain significance	12	112419131	112419131	Human	1	name
152030742	CV1632297	single nucleotide variant	NM_002834.5(PTPN11):c.14+9C>A	RASopathy [RCV002124406]	likely benign	12	112419134	112419134	Human	1	name
405059842	CV2968438	single nucleotide variant	NM_002834.5(PTPN11):c.14+9C>T	RASopathy [RCV003655668]	likely benign	12	112419134	112419134	Human	1	name
405062706	CV3022762	single nucleotide variant	NM_002834.5(PTPN11):c.14+8G>C	RASopathy [RCV003656077]	likely benign	12	112419133	112419133	Human	1	name
11599642	CV316040	single nucleotide variant	NM_002834.5(PTPN11):c.-273G>A	LEOPARD syndrome 1 [RCV000362097]\|Metachondromatosis [RCV000321361]\|Noonan syndrome 1 [RCV000267451]\|Noonan syndrome 1 [RCV002504067]\|RASopathy [RCV001514462]\|not provided [RCV000680648]	benign\|likely benign	12	112418839	112418839	Human	5	name
11649843	CV316041	single nucleotide variant	NM_002834.5(PTPN11):c.-139G>A	LEOPARD syndrome 1 [RCV000289513]\|Metachondromatosis [RCV000407773]\|Noonan syndrome 1 [RCV000352648]	uncertain significance	12	112418973	112418973	Human	3	name
11602009	CV316046	single nucleotide variant	NM_002834.5(PTPN11):c.*329T>C	LEOPARD syndrome 1 [RCV000335302]\|Metachondromatosis [RCV000287314]\|Noonan syndrome 1 [RCV000373708]	benign\|likely benign\|uncertain significance	12	112506121	112506121	Human	3	name
405260047	CV3190182	single nucleotide variant	NM_002834.5(PTPN11):c.15-3A>C	PTPN11-related disorder [RCV004534658]	likely benign	12	112446273	112446273	Human		name , trait , alternate_id
11599382	CV323298	single nucleotide variant	NM_002834.5(PTPN11):c.*325G>A	LEOPARD syndrome 1 [RCV000264960]\|Metachondromatosis [RCV000379260]\|Noonan syndrome 1 [RCV000322269]\|not provided [RCV003311745]	benign\|uncertain significance	12	112506117	112506117	Human	3	name
11598757	CV323300	single nucleotide variant	NM_002834.5(PTPN11):c.*775G>A	LEOPARD syndrome 1 [RCV000323449]\|Metachondromatosis [RCV000260034]\|Noonan syndrome 1 [RCV000380126]	benign\|likely benign\|uncertain significance	12	112506567	112506567	Human	3	name
11613209	CV329404	single nucleotide variant	NM_002834.3(PTPN11):c.-287G>C	LEOPARD syndrome 1 [RCV000310699]\|Metachondromatosis [RCV000266082]\|Noonan syndrome 1 [RCV000365349]	benign\|likely benign\|uncertain significance	12	112418825	112418825	Human	3	name
11616555	CV329406	single nucleotide variant	NM_002834.4(PTPN11):c.-179G>C	LEOPARD syndrome 1 [RCV000385402]\|Metachondromatosis [RCV000330825]\|Noonan syndrome 1 [RCV000295495]	uncertain significance	12	112418933	112418933	Human	3	name
11648354	CV329407	deletion	NM_002834.5(PTPN11):c.*656del	Metachondromatosis [RCV000337777]\|Noonan syndrome [RCV000281512]\|Noonan syndrome with multiple lentigines [RCV000391697]	uncertain significance	12	112506437	112506437	Human	3	name
11618374	CV329458	single nucleotide variant	NM_002834.5(PTPN11):c.*670G>A	LEOPARD syndrome 1 [RCV000351577]\|Metachondromatosis [RCV000404053]\|Noonan syndrome 1 [RCV000313164]	benign\|likely benign	12	112506462	112506462	Human	3	name
11645554	CV329467	single nucleotide variant	NM_002834.5(PTPN11):c.*740C>T	LEOPARD syndrome 1 [RCV000265964]\|Metachondromatosis [RCV000310522]\|Noonan syndrome 1 [RCV000358266]	uncertain significance	12	112506532	112506532	Human	3	name
11616223	CV329470	single nucleotide variant	NM_002834.5(PTPN11):c.*838G>A	LEOPARD syndrome 1 [RCV000292522]\|Metachondromatosis [RCV000317531]\|Noonan syndrome 1 [RCV000374465]	benign\|likely benign\|uncertain significance	12	112506630	112506630	Human	3	name
11648242	CV330584	single nucleotide variant	NM_002834.3(PTPN11):c.-245C>G	LEOPARD syndrome 1 [RCV000280439]\|Metachondromatosis [RCV000374913]\|Noonan syndrome 1 [RCV000317842]	uncertain significance	12	112418867	112418867	Human	3	name
11652001	CV330589	single nucleotide variant	NM_002834.5(PTPN11):c.14+8G>T	LEOPARD syndrome 1 [RCV000346689]\|Metachondromatosis [RCV000406530]\|Noonan syndrome 1 [RCV000302391]	uncertain significance	12	112419133	112419133	Human	3	name
11613850	CV330591	single nucleotide variant	NM_002834.5(PTPN11):c.*687C>T	LEOPARD syndrome 1 [RCV000307246]\|Metachondromatosis [RCV000271962]\|Noonan syndrome 1 [RCV000364128]	uncertain significance	12	112506479	112506479	Human	3	name
14396267	CV612030	deletion	NM_002834.5(PTPN11):c.15-4del	Noonan syndrome [RCV000761126]\|RASopathy [RCV001517426]\|not specified [RCV003994107]	benign\|likely benign\|uncertain significance	12	112446268	112446268	Human	2	name
14724183	CV652408	single nucleotide variant	NM_002834.5(PTPN11):c.14+6G>T	RASopathy [RCV000798291]	uncertain significance	12	112419131	112419131	Human	1	name
28912067	CV869289	single nucleotide variant	NM_002834.3(PTPN11):c.-317C>G	LEOPARD syndrome 1 [RCV001111590]\|Metachondromatosis [RCV001111592]\|Noonan syndrome 1 [RCV001111591]	uncertain significance	12	112418795	112418795	Human	3	name
28867815	CV869290	single nucleotide variant	NM_002834.3(PTPN11):c.-291G>A	LEOPARD syndrome 1 [RCV001112071]\|Metachondromatosis [RCV001112069]\|Noonan syndrome 1 [RCV001112070]	uncertain significance	12	112418821	112418821	Human	3	name
28873450	CV869291	single nucleotide variant	NM_002834.4(PTPN11):c.-176G>T	LEOPARD syndrome 1 [RCV001115011]\|Metachondromatosis [RCV001109368]\|Noonan syndrome 1 [RCV001109367]	uncertain significance	12	112418936	112418936	Human	3	name
28910656	CV869292	single nucleotide variant	NM_002834.5(PTPN11):c.-161T>A	LEOPARD syndrome 1 [RCV001109370]\|Metachondromatosis [RCV001109371]\|Noonan syndrome 1 [RCV001109369]	uncertain significance	12	112418951	112418951	Human	3	name
28910658	CV869293	single nucleotide variant	NM_002834.5(PTPN11):c.-151C>A	LEOPARD syndrome 1 [RCV001109372]\|Metachondromatosis [RCV001109374]\|Noonan syndrome 1 [RCV001109373]	uncertain significance	12	112418961	112418961	Human	3	name
28868215	CV869297	single nucleotide variant	NM_002834.5(PTPN11):c.*474A>G	LEOPARD syndrome 1 [RCV001112324]\|Metachondromatosis [RCV001112325]\|Noonan syndrome 1 [RCV001112326]	uncertain significance	12	112506266	112506266	Human	3	name
28868217	CV869298	single nucleotide variant	NM_002834.5(PTPN11):c.*673G>A	LEOPARD syndrome 1 [RCV001112327]\|Metachondromatosis [RCV001112328]\|Noonan syndrome 1 [RCV001113679]	uncertain significance	12	112506465	112506465	Human	3	name
28870690	CV869299	single nucleotide variant	NM_002834.5(PTPN11):c.*682T>C	LEOPARD syndrome 1 [RCV001113680]\|Metachondromatosis [RCV001113682]\|Noonan syndrome 1 [RCV001113681]	uncertain significance	12	112506474	112506474	Human	3	name
28870695	CV869300	single nucleotide variant	NM_002834.5(PTPN11):c.*684G>A	LEOPARD syndrome 1 [RCV001113683]\|Metachondromatosis [RCV001113684]\|Noonan syndrome 1 [RCV001113685]	uncertain significance	12	112506476	112506476	Human	3	name
28910930	CV869301	single nucleotide variant	NM_002834.5(PTPN11):c.*720C>T	LEOPARD syndrome 1 [RCV001109663]\|Metachondromatosis [RCV001109662]\|Noonan syndrome 1 [RCV001109664]	uncertain significance	12	112506512	112506512	Human	3	name
28867659	CV869302	single nucleotide variant	NM_002834.5(PTPN11):c.*799G>A	LEOPARD syndrome 1 [RCV001111969]\|Metachondromatosis [RCV001111967]\|Noonan syndrome 1 [RCV001111968]	uncertain significance	12	112506591	112506591	Human	3	name
28867664	CV869303	single nucleotide variant	NM_002834.5(PTPN11):c.*801C>T	LEOPARD syndrome 1 [RCV001111970]\|Metachondromatosis [RCV001112422]\|Noonan syndrome 1 [RCV001111971]	benign\|likely benign	12	112506593	112506593	Human	3	name
28868354	CV869304	single nucleotide variant	NM_002834.5(PTPN11):c.*802G>A	LEOPARD syndrome 1 [RCV001112425]\|Metachondromatosis [RCV001112423]\|Noonan syndrome 1 [RCV001112424]	uncertain significance	12	112506594	112506594	Human	3	name
150451577	CV1207234	single nucleotide variant	NM_002834.5(PTPN11):c.15-19C>A	RASopathy [RCV002070443]\|not specified [RCV001582363]	likely benign\|uncertain significance	12	112446257	112446257	Human	1	name
151833189	CV1416469	single nucleotide variant	NM_002834.5(PTPN11):c.525+6T>A	RASopathy [RCV002014509]	uncertain significance	12	112453393	112453393	Human	1	name
152080146	CV1579980	single nucleotide variant	NM_002834.5(PTPN11):c.643-9C>T	Noonan syndrome 1 [RCV005008471]\|RASopathy [RCV002076260]\|not provided [RCV005232865]	likely benign\|uncertain significance	12	112455941	112455941	Human	3	name
152137913	CV1580503	single nucleotide variant	NM_002834.5(PTPN11):c.15-16T>C	RASopathy [RCV002156379]	likely benign	12	112446260	112446260	Human	1	name
152164382	CV1619859	single nucleotide variant	NM_002834.5(PTPN11):c.643-6G>T	RASopathy [RCV002181526]	likely benign	12	112455944	112455944	Human	1	name
152070538	CV1650812	single nucleotide variant	NM_002834.5(PTPN11):c.15-20A>G	RASopathy [RCV002148014]	likely benign	12	112446256	112446256	Human	1	name
152118256	CV1659003	single nucleotide variant	NM_002834.5(PTPN11):c.526-9T>C	RASopathy [RCV002175222]	likely benign	12	112454555	112454555	Human	1	name
152070390	CV1660994	single nucleotide variant	NM_002834.5(PTPN11):c.14+11C>A	Noonan syndrome 1 [RCV002494266]\|RASopathy [RCV002129539]	likely benign	12	112419136	112419136	Human	3	name
9693644	CV178353	single nucleotide variant	NM_002834.5(PTPN11):c.15-38C>T	Noonan syndrome [RCV000156972]	benign	12	112446238	112446238	Human	1	name
156347946	CV1893237	single nucleotide variant	NM_002834.5(PTPN11):c.14+12C>G	RASopathy [RCV003090747]	likely benign	12	112419137	112419137	Human	1	name
156333641	CV1905790	single nucleotide variant	NM_002834.5(PTPN11):c.332+7A>T	RASopathy [RCV003089942]	likely benign	12	112450519	112450519	Human	1	name
156272835	CV2046204	single nucleotide variant	NM_002834.5(PTPN11):c.643-5A>G	RASopathy [RCV002770104]	likely benign\|uncertain significance	12	112455945	112455945	Human	1	name
156144438	CV2052671	single nucleotide variant	NM_002834.5(PTPN11):c.933+8T>C	RASopathy [RCV002801076]	likely benign	12	112477738	112477738	Human	1	name
155954536	CV2073525	single nucleotide variant	NM_002834.5(PTPN11):c.525+1G>A	RASopathy [RCV002816446]	likely pathogenic	12	112453388	112453388	Human	1	name
156121478	CV2078071	single nucleotide variant	NM_002834.5(PTPN11):c.14+15G>A	RASopathy [RCV002889580]	likely benign	12	112419140	112419140	Human	1	name
156230257	CV2115568	single nucleotide variant	NM_002834.5(PTPN11):c.643-8T>C	RASopathy [RCV002932801]	likely benign	12	112455942	112455942	Human	1	name
401870659	CV2749394	single nucleotide variant	NM_002834.5(PTPN11):c.138-2A>G	not provided [RCV003332522]	likely pathogenic	12	112450316	112450316	Human		name
401919039	CV2794737	single nucleotide variant	NM_002834.5(PTPN11):c.853+4A>C	not specified [RCV003388411]	uncertain significance	12	112473044	112473044	Human		name
405165374	CV2930154	single nucleotide variant	NM_002834.5(PTPN11):c.14+12C>T	RASopathy [RCV003540474]	likely benign	12	112419137	112419137	Human	1	name
405056314	CV2954721	single nucleotide variant	NM_002834.5(PTPN11):c.853+7A>G	RASopathy [RCV003655569]	uncertain significance	12	112473047	112473047	Human	1	name
405056540	CV2958727	single nucleotide variant	NM_002834.5(PTPN11):c.933+7T>G	RASopathy [RCV003655586]	likely benign	12	112477737	112477737	Human	1	name
405062222	CV3021457	single nucleotide variant	NM_002834.5(PTPN11):c.853+3A>G	RASopathy [RCV003656038]	uncertain significance	12	112473043	112473043	Human	1	name
405050327	CV3051676	single nucleotide variant	NM_002834.5(PTPN11):c.525+6T>C	RASopathy [RCV003654624]	uncertain significance	12	112453393	112453393	Human	1	name
405203137	CV3143937	single nucleotide variant	NM_002834.5(PTPN11):c.15-15G>A	RASopathy [RCV003844727]	likely benign	12	112446261	112446261	Human	1	name
11604446	CV316051	single nucleotide variant	NM_002834.5(PTPN11):c.*1536T>G	LEOPARD syndrome 1 [RCV000364343]\|Metachondromatosis [RCV000405633]\|Noonan syndrome 1 [RCV000309705]	uncertain significance	12	112507328	112507328	Human	3	name
11598893	CV316054	single nucleotide variant	NM_002834.5(PTPN11):c.*2731G>A	Metachondromatosis [RCV000355768]\|Noonan syndrome [RCV000300369]\|Noonan syndrome with multiple lentigines [RCV000260944]	uncertain significance	12	112508523	112508523	Human	3	name
11599781	CV316057	single nucleotide variant	NM_002834.5(PTPN11):c.*3231T>G	LEOPARD syndrome 1 [RCV000304892]\|Metachondromatosis [RCV000353772]\|Noonan syndrome 1 [RCV000268399]	uncertain significance	12	112509023	112509023	Human	3	name
11599254	CV316064	single nucleotide variant	NM_002834.5(PTPN11):c.*3244A>G	LEOPARD syndrome 1 [RCV000359656]\|Metachondromatosis [RCV000328468]\|Noonan syndrome 1 [RCV000264022]	uncertain significance	12	112509036	112509036	Human	3	name
11647807	CV316065	single nucleotide variant	NM_002834.5(PTPN11):c.*4019C>T	LEOPARD syndrome 1 [RCV000343019]\|Metachondromatosis [RCV000278689]\|Noonan syndrome 1 [RCV000390876]	uncertain significance	12	112509811	112509811	Human	3	name
405254180	CV3175019	single nucleotide variant	NM_002834.5(PTPN11):c.332+3C>T	RASopathy [RCV003871471]	uncertain significance	12	112450515	112450515	Human	1	name
402497525	CV3179336	single nucleotide variant	NM_002834.5(PTPN11):c.756+6T>C	RASopathy [RCV003877603]	uncertain significance	12	112456069	112456069	Human	1	name
11650984	CV323294	single nucleotide variant	NM_002834.5(PTPN11):c.853+8T>C	LEOPARD syndrome 1 [RCV000296099]\|Metachondromatosis [RCV000388132]\|Noonan syndrome 1 [RCV000325441]	uncertain significance	12	112473048	112473048	Human	3	name
11603033	CV323301	deletion	NM_002834.5(PTPN11):c.*1006del	Metachondromatosis [RCV000387928]\|Noonan syndrome [RCV000349825]\|Noonan syndrome and Noonan-related syndrome [RCV001813457]\|Noonan syndrome with multiple lentigines [RCV000296025]	likely benign	12	112506798	112506798	Human	3	name
11603356	CV323304	single nucleotide variant	NM_002834.5(PTPN11):c.*1536T>C	LEOPARD syndrome 1 [RCV000299094]\|Metachondromatosis [RCV000390936]\|Noonan syndrome 1 [RCV000356281]	benign\|likely benign\|uncertain significance	12	112507328	112507328	Human	3	name
11646210	CV323305	single nucleotide variant	NM_002834.5(PTPN11):c.*1588C>G	LEOPARD syndrome 1 [RCV000370066]\|Metachondromatosis [RCV000334209]\|Noonan syndrome 1 [RCV000269703]	uncertain significance	12	112507380	112507380	Human	3	name
11601950	CV323306	single nucleotide variant	NM_002834.5(PTPN11):c.*1806G>A	LEOPARD syndrome 1 [RCV000342107]\|Metachondromatosis [RCV000286878]\|Noonan syndrome 1 [RCV000378018]	uncertain significance	12	112507598	112507598	Human	3	name
11603036	CV323307	single nucleotide variant	NM_002834.5(PTPN11):c.*2928A>T	LEOPARD syndrome 1 [RCV000345487]\|Metachondromatosis [RCV000296301]\|Noonan syndrome 1 [RCV000381456]	uncertain significance	12	112508720	112508720	Human	3	name
11652116	CV329471	single nucleotide variant	NM_002834.5(PTPN11):c.*1035A>G	LEOPARD syndrome 1 [RCV000347631]\|Metachondromatosis [RCV000303225]\|Noonan syndrome 1 [RCV000406346]	uncertain significance	12	112506827	112506827	Human	3	name
11615450	CV329472	single nucleotide variant	NM_002834.5(PTPN11):c.*1374G>C	LEOPARD syndrome 1 [RCV000343362]\|Metachondromatosis [RCV000390938]\|Noonan syndrome 1 [RCV000286100]	benign\|likely benign	12	112507166	112507166	Human	3	name
11647220	CV329473	single nucleotide variant	NM_002834.5(PTPN11):c.*1729A>G	LEOPARD syndrome 1 [RCV000330611]\|Metachondromatosis [RCV000375829]\|Noonan syndrome 1 [RCV000275387]	uncertain significance	12	112507521	112507521	Human	3	name
11648716	CV329475	single nucleotide variant	NM_002834.5(PTPN11):c.*1946G>A	LEOPARD syndrome 1 [RCV000392581]\|Metachondromatosis [RCV000347850]\|Noonan syndrome 1 [RCV000283443]	uncertain significance	12	112507738	112507738	Human	3	name
11645684	CV329476	single nucleotide variant	NM_002834.5(PTPN11):c.*2907A>C	LEOPARD syndrome 1 [RCV000266651]\|Metachondromatosis [RCV000380020]\|Noonan syndrome 1 [RCV000316069]	uncertain significance	12	112508699	112508699	Human	3	name
11616092	CV329477	single nucleotide variant	NM_002834.5(PTPN11):c.*2927T>A	LEOPARD syndrome 1 [RCV000376468]\|Metachondromatosis [RCV000321682]\|Noonan syndrome 1 [RCV000291387]	benign\|likely benign	12	112508719	112508719	Human	3	name
11618237	CV329478	single nucleotide variant	NM_002834.5(PTPN11):c.*3006G>A	LEOPARD syndrome 1 [RCV000311755]\|Metachondromatosis [RCV000351151]\|Noonan syndrome 1 [RCV000407469]\|not provided [RCV004703616]	benign\|likely benign\|uncertain significance	12	112508798	112508798	Human	3	name
11616937	CV329485	single nucleotide variant	NM_002834.5(PTPN11):c.*3043C>T	LEOPARD syndrome 1 [RCV000298931]\|Metachondromatosis [RCV000338505]\|Noonan syndrome 1 [RCV000407473]\|not provided [RCV004705237]	benign\|likely benign\|uncertain significance	12	112508835	112508835	Human	3	name
11646446	CV329521	single nucleotide variant	NM_002834.5(PTPN11):c.*3300T>C	LEOPARD syndrome 1 [RCV000326046]\|Metachondromatosis [RCV000270955]\|Noonan syndrome 1 [RCV000364452]	uncertain significance	12	112509092	112509092	Human	3	name
11615941	CV330595	single nucleotide variant	NM_002834.5(PTPN11):c.*1015C>G	LEOPARD syndrome 1 [RCV000290290]\|Metachondromatosis [RCV000391805]\|Noonan syndrome 1 [RCV000344064]	uncertain significance	12	112506807	112506807	Human	3	name
11650211	CV330611	single nucleotide variant	NM_002834.5(PTPN11):c.*1332G>A	LEOPARD syndrome 1 [RCV000383763]\|Metachondromatosis [RCV000291766]\|Noonan syndrome 1 [RCV000339872]	uncertain significance	12	112507124	112507124	Human	3	name
11612782	CV330625	single nucleotide variant	NM_002834.5(PTPN11):c.*1805C>T	LEOPARD syndrome 1 [RCV000372227]\|Metachondromatosis [RCV000262330]\|Noonan syndrome 1 [RCV000317559]\|not provided [RCV003391085]	benign\|likely benign\|uncertain significance	12	112507597	112507597	Human	3	name
11652876	CV330626	single nucleotide variant	NM_002834.5(PTPN11):c.*2493C>T	LEOPARD syndrome 1 [RCV000404816]\|Metachondromatosis [RCV000307730]\|Noonan syndrome 1 [RCV000343984]	uncertain significance	12	112508285	112508285	Human	3	name
11646884	CV330628	single nucleotide variant	NM_002834.5(PTPN11):c.*2540G>T	LEOPARD syndrome 1 [RCV000368402]\|Metachondromatosis [RCV000313683]\|Noonan syndrome 1 [RCV000273408]	uncertain significance	12	112508332	112508332	Human	3	name
11616574	CV330630	single nucleotide variant	NM_002834.5(PTPN11):c.*3381A>G	LEOPARD syndrome 1 [RCV000295611]\|Metachondromatosis [RCV000331706]\|Noonan syndrome 1 [RCV000389840]	benign\|likely benign\|uncertain significance	12	112509173	112509173	Human	3	name
11648538	CV330634	single nucleotide variant	NM_002834.5(PTPN11):c.*3720T>C	LEOPARD syndrome 1 [RCV000337611]\|Metachondromatosis [RCV000386164]\|Noonan syndrome 1 [RCV000282547]	uncertain significance	12	112509512	112509512	Human	3	name
405675712	CV3386472	deletion	NM_002834.5(PTPN11):c.333-3del	Cardiovascular phenotype [RCV004516218]	uncertain significance	12	112453190	112453190	Human		name
12843413	CV371810	single nucleotide variant	NM_002834.5(PTPN11):c.138-4T>G	RASopathy [RCV003654264]\|not specified [RCV000436182]	likely benign	12	112450314	112450314	Human	1	name
597887101	CV3838999	single nucleotide variant	NM_002834.5(PTPN11):c.854-8T>C	RASopathy [RCV005179084]	likely benign	12	112477643	112477643	Human	1	name
597936428	CV3862493	single nucleotide variant	NM_002834.5(PTPN11):c.138-9C>T	RASopathy [RCV005207765]	likely benign	12	112450309	112450309	Human	1	name
8602470	CV40230	single nucleotide variant	NM_002834.5(PTPN11):c.643-2A>C	Metachondromatosis [RCV000024260]	pathogenic	12	112455948	112455948	Human	1	name
13477398	CV442536	duplication	NM_002834.5(PTPN11):c.643-6dup	Noonan syndrome 1 [RCV002506264]\|PTPN11-related disorder [RCV004541625]\|RASopathy [RCV000520386]\|not provided [RCV001712480]\|not specified [RCV001193112]	benign\|likely benign	12	112455943	112455944	Human	8	name , alternate_id
8603031	CV45370	single nucleotide variant	NM_002834.5(PTPN11):c.526-8C>A	LEOPARD syndrome 1 [RCV001109477]\|Metachondromatosis [RCV001109476]\|Noonan syndrome 1 [RCV001109478]\|Noonan syndrome [RCV000030388]\|Noonan syndrome and Noonan-related syndrome [RCV001813213]\|RASopathy [RCV000033495]\|not provided [RCV000430276]\|not specified [RCV000037650]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112454556	112454556	Human	6	name
13474862	CV462423	single nucleotide variant	NM_002834.5(PTPN11):c.643-7C>T	RASopathy [RCV000548455]	likely benign	12	112455943	112455943	Human	1	name
9691227	CV48948	single nucleotide variant	NM_002834.5(PTPN11):c.14+25G>C	Juvenile myelomonocytic leukemia [RCV003315533]\|Metachondromatosis [RCV005234823]\|Noonan syndrome [RCV000157025]\|not provided [RCV001538566]\|not specified [RCV000244297]	benign	12	112419150	112419150	Human	4	name
150507389	CV48949	single nucleotide variant	NM_002834.5(PTPN11):c.14+42C>T	not provided [RCV001596282]	benign	12	112419167	112419167	Human		name
9691222	CV48950	single nucleotide variant	NM_002834.5(PTPN11):c.14+54C>A	Juvenile myelomonocytic leukemia [RCV003315534]\|Metachondromatosis [RCV005234824]\|Noonan syndrome [RCV000156975]\|not provided [RCV001610305]	benign	12	112419179	112419179	Human	4	name
8604480	CV48981	single nucleotide variant	NM_002834.5(PTPN11):c.333-3T>C	Cardiovascular phenotype [RCV002316204]\|PTPN11-related disorder [RCV004532487]\|RASopathy [RCV000033488]\|not provided [RCV003390717]\|not specified [RCV000213919]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112453192	112453192	Human	1	name , alternate_id
13539897	CV503886	single nucleotide variant	NM_002834.5(PTPN11):c.333-4T>C	not specified [RCV000613907]	likely benign	12	112453191	112453191	Human		name
13835506	CV586765	single nucleotide variant	NM_002834.5(PTPN11):c.933+4A>T	not provided [RCV000731329]	uncertain significance	12	112477734	112477734	Human		name
15014897	CV679454	single nucleotide variant	NM_002834.5(PTPN11):c.854-1G>C	Ventricular tachycardia [RCV000852441]	likely pathogenic	12	112477650	112477650	Human	2	name
15167794	CV690018	single nucleotide variant	NM_002834.5(PTPN11):c.756+9T>C	RASopathy [RCV002064633]\|not specified [RCV004702487]	likely benign	12	112456072	112456072	Human	1	name
15170230	CV759980	single nucleotide variant	NM_002834.5(PTPN11):c.757-5T>C	Cardiovascular phenotype [RCV002390912]\|RASopathy [RCV001858576]	likely benign\|uncertain significance	12	112472939	112472939	Human	1	name
28870853	CV869305	single nucleotide variant	NM_002834.5(PTPN11):c.*1038G>A	LEOPARD syndrome 1 [RCV001113767]\|Metachondromatosis [RCV001113768]\|Noonan syndrome 1 [RCV001113769]	uncertain significance	12	112506830	112506830	Human	3	name
28910993	CV869306	single nucleotide variant	NM_002834.5(PTPN11):c.*1419G>A	LEOPARD syndrome 1 [RCV001110540]\|Metachondromatosis [RCV001109759]\|Noonan syndrome 1 [RCV001109758]	uncertain significance	12	112507211	112507211	Human	3	name
28911436	CV869307	single nucleotide variant	NM_002834.5(PTPN11):c.*1520C>T	LEOPARD syndrome 1 [RCV001110543]\|Metachondromatosis [RCV001110541]\|Noonan syndrome 1 [RCV001110542]	uncertain significance	12	112507312	112507312	Human	3	name
28868489	CV869308	single nucleotide variant	NM_002834.5(PTPN11):c.*1616C>T	LEOPARD syndrome 1 [RCV001112519]\|Metachondromatosis [RCV001112521]\|Noonan syndrome 1 [RCV001112520]	uncertain significance	12	112507408	112507408	Human	3	name
28911034	CV869309	single nucleotide variant	NM_002834.5(PTPN11):c.*1830G>A	LEOPARD syndrome 1 [RCV001109838]\|Metachondromatosis [RCV001109839]\|Noonan syndrome 1 [RCV001109840]	uncertain significance	12	112507622	112507622	Human	3	name
28911035	CV869310	single nucleotide variant	NM_002834.5(PTPN11):c.*2078G>A	LEOPARD syndrome 1 [RCV001109841]\|Metachondromatosis [RCV001110624]\|Noonan syndrome 1 [RCV001110625]	benign\|likely benign	12	112507870	112507870	Human	3	name
28911481	CV869311	single nucleotide variant	NM_002834.5(PTPN11):c.*2096T>G	LEOPARD syndrome 1 [RCV001110626]\|Metachondromatosis [RCV001110628]\|Noonan syndrome 1 [RCV001110627]	uncertain significance	12	112507888	112507888	Human	3	name
28911482	CV869312	single nucleotide variant	NM_002834.5(PTPN11):c.*2150G>T	LEOPARD syndrome 1 [RCV001110629]\|Metachondromatosis [RCV001110631]\|Noonan syndrome 1 [RCV001110630]	uncertain significance	12	112507942	112507942	Human	3	name
28868625	CV869313	single nucleotide variant	NM_002834.5(PTPN11):c.*2179C>T	LEOPARD syndrome 1 [RCV001112614]\|Metachondromatosis [RCV001112613]\|Noonan syndrome 1 [RCV001112612]	uncertain significance	12	112507971	112507971	Human	3	name
28871200	CV869314	single nucleotide variant	NM_002834.5(PTPN11):c.*2608C>T	LEOPARD syndrome 1 [RCV001113955]\|Metachondromatosis [RCV001113954]\|Noonan syndrome 1 [RCV001113953]	uncertain significance	12	112508400	112508400	Human	3	name
28871205	CV869315	single nucleotide variant	NM_002834.5(PTPN11):c.*2629A>G	LEOPARD syndrome 1 [RCV001113956]\|Metachondromatosis [RCV001113958]\|Noonan syndrome 1 [RCV001113957]	benign\|likely benign	12	112508421	112508421	Human	3	name
28871209	CV869316	single nucleotide variant	NM_002834.5(PTPN11):c.*2822A>G	LEOPARD syndrome 1 [RCV001109922]\|Metachondromatosis [RCV001109921]\|Noonan syndrome 1 [RCV001113959]	uncertain significance	12	112508614	112508614	Human	3	name
28911117	CV869317	single nucleotide variant	NM_002834.5(PTPN11):c.*3971A>G	LEOPARD syndrome 1 [RCV001110017]\|Metachondromatosis [RCV001110018]\|Noonan syndrome 1 [RCV001110016]	uncertain significance	12	112509763	112509763	Human	3	name
38466172	CV920310	single nucleotide variant	NM_002834.5(PTPN11):c.643-6G>A	LEOPARD syndrome 1 [RCV001198119]\|RASopathy [RCV002561060]	likely benign\|uncertain significance	12	112455944	112455944	Human	2	name
127246731	CV1100856	single nucleotide variant	NM_002834.5(PTPN11):c.1448-4G>A	Cardiovascular phenotype [RCV004656594]\|RASopathy [RCV001435492]	likely benign	12	112489020	112489020	Human	1	name
127330590	CV1122310	single nucleotide variant	NM_002834.5(PTPN11):c.1225-9C>T	RASopathy [RCV001470949]	likely benign	12	112486466	112486466	Human	1	name
150423961	CV1184623	single nucleotide variant	NM_002834.5(PTPN11):c.525+78A>G	not provided [RCV001556021]	likely benign	12	112453465	112453465	Human		name
150427100	CV1187836	single nucleotide variant	NM_002834.5(PTPN11):c.642+41T>G	not provided [RCV001560478]	likely benign	12	112454721	112454721	Human		name
150437719	CV1201298	single nucleotide variant	NM_002834.5(PTPN11):c.137+42A>G	not provided [RCV001583110]	likely benign	12	112446440	112446440	Human		name
150472777	CV1217236	deletion	NM_002834.5(PTPN11):c.643-62del	not provided [RCV001615531]	benign	12	112455872	112455872	Human		name
150475760	CV1239784	single nucleotide variant	NM_002834.5(PTPN11):c.525+34A>G	not provided [RCV001651961]	benign	12	112453421	112453421	Human		name
150441339	CV1246717	single nucleotide variant	NM_002834.5(PTPN11):c.934-24A>G	not provided [RCV001666371]	benign	12	112477833	112477833	Human		name
150469506	CV1268109	deletion	NM_002834.5(PTPN11):c.333-19del	not provided [RCV001694972]\|not specified [RCV003317519]	benign	12	112453171	112453171	Human		name
151352169	CV1325125	single nucleotide variant	NM_002834.5(PTPN11):c.1380-5C>T	Cardiovascular phenotype [RCV002386575]\|Noonan syndrome and Noonan-related syndrome [RCV001813681]\|RASopathy [RCV002077267]\|not provided [RCV005232668]	likely benign\|uncertain significance	12	112488438	112488438	Human	1	name
151712344	CV1334405	duplication	NM_002834.5(PTPN11):c.643-62dup	not provided [RCV001840879]	likely benign	12	112455871	112455872	Human		name
151840503	CV1423593	single nucleotide variant	NM_002834.5(PTPN11):c.1448-2A>T	RASopathy [RCV001977628]	likely pathogenic	12	112489022	112489022	Human	1	name
151886722	CV1441649	single nucleotide variant	NM_002834.5(PTPN11):c.525+11A>G	RASopathy [RCV001942229]	likely benign	12	112453398	112453398	Human	1	name
152092571	CV1567804	single nucleotide variant	NM_002834.5(PTPN11):c.854-20G>A	RASopathy [RCV002212930]	likely benign	12	112477631	112477631	Human	1	name
152117890	CV1601091	single nucleotide variant	NM_002834.5(PTPN11):c.1600-8A>T	RASopathy [RCV002097745]	likely benign	12	112502136	112502136	Human	1	name
152118548	CV1602594	single nucleotide variant	NM_002834.5(PTPN11):c.1224+7A>T	RASopathy [RCV002117533]	likely benign	12	112482212	112482212	Human	1	name
152171044	CV1612733	single nucleotide variant	NM_002834.5(PTPN11):c.332+18G>T	RASopathy [RCV002183366]	likely benign	12	112450530	112450530	Human	1	name
152123165	CV1613675	single nucleotide variant	NM_002834.5(PTPN11):c.1092+9C>T	RASopathy [RCV002081840]	likely benign	12	112478024	112478024	Human	1	name
152094551	CV1617427	single nucleotide variant	NM_002834.5(PTPN11):c.854-18G>C	RASopathy [RCV002114529]\|not specified [RCV005239268]	likely benign	12	112477633	112477633	Human	1	name
152161754	CV1619520	single nucleotide variant	NM_002834.5(PTPN11):c.526-20T>C	RASopathy [RCV002159762]	likely benign	12	112454544	112454544	Human	1	name
9689135	CV175542	single nucleotide variant	NM_002834.5(PTPN11):c.1225-7A>G	RASopathy [RCV003539799]\|not specified [RCV000154569]	likely benign\|uncertain significance	12	112486468	112486468	Human	1	name
9693654	CV178354	single nucleotide variant	NM_002834.5(PTPN11):c.137+35G>A	Noonan syndrome [RCV000156999]	benign	12	112446433	112446433	Human	1	name
9693653	CV178355	single nucleotide variant	NM_002834.5(PTPN11):c.933+25T>C	Noonan syndrome [RCV000156998]	likely benign	12	112477755	112477755	Human	1	name
9833398	CV179452	single nucleotide variant	NM_002834.5(PTPN11):c.934-12C>T	not specified [RCV000159039]	benign	12	112477845	112477845	Human		name
155716178	CV1847952	single nucleotide variant	NM_002834.5(PTPN11):c.1093-3C>T	Cardiovascular phenotype [RCV002448260]\|RASopathy [RCV005058776]	uncertain significance	12	112482071	112482071	Human	1	name
156305361	CV1868125	single nucleotide variant	NM_002834.5(PTPN11):c.1379+9T>A	RASopathy [RCV003062159]	likely benign	12	112486638	112486638	Human	1	name
156325208	CV1871141	single nucleotide variant	NM_002834.5(PTPN11):c.333-11A>G	RASopathy [RCV003063353]	likely benign	12	112453184	112453184	Human	1	name
156256708	CV1875351	single nucleotide variant	NM_002834.5(PTPN11):c.642+19T>G	RASopathy [RCV003060216]	likely benign	12	112454699	112454699	Human	1	name
156387941	CV1875725	single nucleotide variant	NM_002834.5(PTPN11):c.853+18G>T	RASopathy [RCV003051022]	likely benign	12	112473058	112473058	Human	1	name
156410152	CV1888236	single nucleotide variant	NM_002834.5(PTPN11):c.642+17G>A	RASopathy [RCV003071953]	likely benign	12	112454697	112454697	Human	1	name
156197338	CV1897174	single nucleotide variant	NM_002834.5(PTPN11):c.854-17G>A	RASopathy [RCV002574623]	likely benign	12	112477634	112477634	Human	1	name
156153693	CV1926048	single nucleotide variant	NM_002834.5(PTPN11):c.853+19C>T	Noonan syndrome 1 [RCV005002969]\|RASopathy [RCV002624098]	likely benign\|uncertain significance	12	112473059	112473059	Human	3	name
156444325	CV1938181	single nucleotide variant	NM_002834.5(PTPN11):c.934-10A>G	RASopathy [RCV003115249]	likely benign	12	112477847	112477847	Human	1	name
156254087	CV1981642	single nucleotide variant	NM_002834.5(PTPN11):c.643-17C>T	RASopathy [RCV002645991]\|not specified [RCV003988014]	likely benign	12	112455933	112455933	Human	1	name
156209574	CV2036782	single nucleotide variant	NM_002834.5(PTPN11):c.854-15C>T	RASopathy [RCV002790191]	likely benign	12	112477636	112477636	Human	1	name
156270730	CV2055958	single nucleotide variant	NM_002834.5(PTPN11):c.1599+5C>T	RASopathy [RCV002806651]	uncertain significance	12	112489180	112489180	Human	1	name
156050524	CV2060029	single nucleotide variant	NM_002834.5(PTPN11):c.853+14T>G	RASopathy [RCV002796752]	likely benign	12	112473054	112473054	Human	1	name
156002878	CV2074734	single nucleotide variant	NM_002834.5(PTPN11):c.1448-7T>G	RASopathy [RCV002843491]	likely benign	12	112489017	112489017	Human	1	name
156298548	CV2075747	single nucleotide variant	NM_002834.5(PTPN11):c.1599+7G>C	RASopathy [RCV002857057]	likely benign	12	112489182	112489182	Human	1	name
156023687	CV2077870	single nucleotide variant	NM_002834.5(PTPN11):c.138-12G>A	RASopathy [RCV002866729]	uncertain significance	12	112450306	112450306	Human	1	name
156048727	CV2093413	single nucleotide variant	NM_002834.5(PTPN11):c.1712+9T>G	RASopathy [RCV002867712]	likely benign	12	112502265	112502265	Human	1	name
156324428	CV2101315	single nucleotide variant	NM_002834.5(PTPN11):c.1599+6A>C	RASopathy [RCV002899526]	uncertain significance	12	112489181	112489181	Human	1	name
156022499	CV2111143	single nucleotide variant	NM_002834.5(PTPN11):c.1599+7G>T	RASopathy [RCV002909680]	likely benign	12	112489182	112489182	Human	1	name
156392421	CV2123481	single nucleotide variant	NM_002834.5(PTPN11):c.1379+6A>C	RASopathy [RCV002944044]	uncertain significance	12	112486635	112486635	Human	1	name
156287134	CV2172336	single nucleotide variant	NM_002834.5(PTPN11):c.525+16A>T	RASopathy [RCV003027531]	likely benign	12	112453403	112453403	Human	1	name
11096475	CV230260	single nucleotide variant	NM_002834.5(PTPN11):c.1380-4G>T	RASopathy [RCV001439592]\|not specified [RCV000223627]	likely benign	12	112488439	112488439	Human	1	name
11093807	CV230261	single nucleotide variant	NM_002834.5(PTPN11):c.1713-5T>A	RASopathy [RCV002057175]\|not specified [RCV000220247]	likely benign\|uncertain significance	12	112504690	112504690	Human	1	name
11544086	CV254414	single nucleotide variant	NM_002834.5(PTPN11):c.526-17T>C	Noonan syndrome 1 [RCV002503939]\|RASopathy [RCV002058126]\|not specified [RCV000243321]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	112454547	112454547	Human	3	name
405157801	CV2866909	single nucleotide variant	NM_002834.5(PTPN11):c.1447+1G>A	RASopathy [RCV003539611]	likely pathogenic	12	112488511	112488511	Human	1	name
405159223	CV2870494	single nucleotide variant	NM_002834.5(PTPN11):c.333-18A>T	RASopathy [RCV003539607]	likely benign	12	112453177	112453177	Human	1	name
405158359	CV2871810	single nucleotide variant	NM_002834.5(PTPN11):c.757-12C>G	RASopathy [RCV003539653]	likely benign	12	112472932	112472932	Human	1	name
405162335	CV2881932	single nucleotide variant	NM_002834.5(PTPN11):c.525+19A>G	RASopathy [RCV003540048]	likely benign	12	112453406	112453406	Human	1	name
405160995	CV2886846	single nucleotide variant	NM_002834.5(PTPN11):c.756+18T>C	RASopathy [RCV003540113]	likely benign	12	112456081	112456081	Human	1	name
405164740	CV2928942	single nucleotide variant	NM_002834.5(PTPN11):c.1447+6T>C	RASopathy [RCV003540419]	uncertain significance	12	112488516	112488516	Human	1	name
405164873	CV2931009	single nucleotide variant	NM_002834.5(PTPN11):c.756+19G>A	RASopathy [RCV003540378]	likely benign	12	112456082	112456082	Human	1	name
405055737	CV2939248	single nucleotide variant	NM_002834.5(PTPN11):c.756+16A>G	RASopathy [RCV003655525]	likely benign	12	112456079	112456079	Human	1	name
405061344	CV3015497	single nucleotide variant	NM_002834.5(PTPN11):c.526-14G>A	RASopathy [RCV003655967]	likely benign	12	112454550	112454550	Human	1	name
405048006	CV3019503	single nucleotide variant	NM_002834.5(PTPN11):c.1599+9C>T	RASopathy [RCV003654453]	likely benign	12	112489184	112489184	Human	1	name
405047722	CV3024307	single nucleotide variant	NM_002834.5(PTPN11):c.1225-9C>G	RASopathy [RCV003654504]	likely benign	12	112486466	112486466	Human	1	name
405049394	CV3048371	single nucleotide variant	NM_002834.5(PTPN11):c.853+12T>C	RASopathy [RCV003654635]	likely benign	12	112473052	112473052	Human	1	name
405052464	CV3073642	deletion	NM_002834.5(PTPN11):c.934-12del	RASopathy [RCV003654853]	likely benign	12	112477844	112477844	Human	1	name
405052117	CV3078586	single nucleotide variant	NM_002834.5(PTPN11):c.1224+7A>G	RASopathy [RCV003654824]	likely benign	12	112482212	112482212	Human	1	name
404983910	CV3180060	single nucleotide variant	NM_002834.5(PTPN11):c.756+16A>T	RASopathy [RCV003880862]	likely benign	12	112456079	112456079	Human	1	name
402509095	CV3182123	single nucleotide variant	NM_002834.5(PTPN11):c.1225-7A>C	RASopathy [RCV003878776]	likely benign	12	112486468	112486468	Human	1	name
407573249	CV3499050	single nucleotide variant	NM_002834.5(PTPN11):c.1447+7C>T	not specified [RCV004700021]	uncertain significance	12	112488517	112488517	Human		name
597706559	CV3585025	single nucleotide variant	NM_002834.5(PTPN11):c.1599+3A>G	Cardiovascular phenotype [RCV004989446]	uncertain significance	12	112489178	112489178	Human		name
597670396	CV3713703	single nucleotide variant	NM_002834.5(PTPN11):c.643-20C>A	Noonan syndrome 1 [RCV005004823]	uncertain significance	12	112455930	112455930	Human	2	name
12833233	CV371821	single nucleotide variant	NM_002834.5(PTPN11):c.853+17C>T	RASopathy [RCV002065015]\|not specified [RCV000418124]	likely benign\|conflicting interpretations of pathogenicity	12	112473057	112473057	Human	1	name
12843312	CV372556	single nucleotide variant	NM_002834.5(PTPN11):c.137+49A>T	not specified [RCV000436005]	likely benign	12	112446447	112446447	Human		name
597830543	CV3743080	single nucleotide variant	NM_002834.5(PTPN11):c.934-18T>A	RASopathy [RCV005062088]	likely benign	12	112477839	112477839	Human	1	name
597830581	CV3743118	single nucleotide variant	NM_002834.5(PTPN11):c.853+19C>G	RASopathy [RCV005062126]	likely benign	12	112473059	112473059	Human	1	name
597842418	CV3752985	single nucleotide variant	NM_002834.5(PTPN11):c.526-15T>A	RASopathy [RCV005086714]	likely benign	12	112454549	112454549	Human	1	name
597840616	CV3756112	single nucleotide variant	NM_002834.5(PTPN11):c.853+18G>A	RASopathy [RCV005086384]	likely benign	12	112473058	112473058	Human	1	name
597955776	CV3787198	single nucleotide variant	NM_002834.5(PTPN11):c.756+19G>C	RASopathy [RCV005122083]	likely benign	12	112456082	112456082	Human	1	name
597869651	CV3839272	single nucleotide variant	NM_002834.5(PTPN11):c.526-16G>A	RASopathy [RCV005176383]	likely benign	12	112454548	112454548	Human	1	name
597943407	CV3847669	single nucleotide variant	NM_002834.5(PTPN11):c.1380-4G>A	RASopathy [RCV005188397]	likely benign	12	112488439	112488439	Human	1	name
597878574	CV3860428	single nucleotide variant	NM_002834.5(PTPN11):c.1380-8G>A	RASopathy [RCV005198637]	likely benign	12	112488435	112488435	Human	1	name
597919048	CV3861641	single nucleotide variant	NM_002834.5(PTPN11):c.138-17C>A	RASopathy [RCV005204797]	likely benign	12	112450301	112450301	Human	1	name
598245627	CV3896470	single nucleotide variant	NM_002834.5(PTPN11):c.934-59T>A	Noonan syndrome with multiple lentigines [RCV005365827]	likely pathogenic	12	112477798	112477798	Human	1	name
8602472	CV40232	single nucleotide variant	NM_002834.5(PTPN11):c.1093-1G>T	Metachondromatosis [RCV000024262]	pathogenic	12	112482073	112482073	Human	1	name
13506302	CV481137	single nucleotide variant	NM_002834.5(PTPN11):c.1599+4C>A	Cardiovascular phenotype [RCV003159973]\|LEOPARD syndrome 1 [RCV000577953]\|Metachondromatosis [RCV000578031]\|Noonan syndrome 1 [RCV000578108]\|Noonan syndrome 1 [RCV005004256]\|RASopathy [RCV001860000]\|not provided [RCV001558688]	likely benign\|uncertain significance	12	112489179	112489179	Human	8	name
13521776	CV487580	single nucleotide variant	NM_002834.5(PTPN11):c.1379+6A>G	LEOPARD syndrome 1 [RCV001113594]\|Metachondromatosis [RCV001113592]\|Noonan syndrome 1 [RCV001113593]\|not provided [RCV000590231]	uncertain significance	12	112486635	112486635	Human	3	name
8604479	CV48979	single nucleotide variant	NM_002834.5(PTPN11):c.332+17T>G	RASopathy [RCV000033486]\|not provided [RCV003736548]\|not specified [RCV000157684]	benign	12	112450529	112450529	Human	1	name
150432250	CV48980	single nucleotide variant	NM_002834.5(PTPN11):c.332+29C>G	not provided [RCV001642102]	benign	12	112450541	112450541	Human		name
8604485	CV48986	single nucleotide variant	NM_002834.5(PTPN11):c.525+12G>C	Cardiovascular phenotype [RCV002336105]\|Juvenile myelomonocytic leukemia [RCV003315536]\|LEOPARD syndrome 1 [RCV001115113]\|Metachondromatosis [RCV001115114]\|Noonan syndrome 1 [RCV001115112]\|RASopathy [RCV000523314]\|not provided [RCV000680298]\|not specified [RCV000037649]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	112453399	112453399	Human	8	name
9691224	CV48987	single nucleotide variant	NM_002834.5(PTPN11):c.757-69T>C	Noonan syndrome [RCV000157003]\|not provided [RCV001711140]	benign	12	112472875	112472875	Human	1	name
150453885	CV48999	single nucleotide variant	NM_002834.5(PTPN11):c.853+80C>T	not provided [RCV001681071]	benign	12	112473120	112473120	Human		name
8604497	CV49000	single nucleotide variant	NM_002834.5(PTPN11):c.854-32A>C	Noonan syndrome [RCV000157019]\|RASopathy [RCV000521102]\|not provided [RCV000680300]\|not specified [RCV000251132]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112477619	112477619	Human	2	name
8604498	CV49001	single nucleotide variant	NM_002834.5(PTPN11):c.854-30T>C	Noonan syndrome [RCV000157029]\|not provided [RCV001682721]\|not specified [RCV000033511]	benign	12	112477621	112477621	Human	1	name
8604499	CV49002	single nucleotide variant	NM_002834.5(PTPN11):c.854-21C>T	Juvenile myelomonocytic leukemia [RCV003315537]\|Metachondromatosis [RCV005234825]\|Noonan syndrome [RCV000157028]\|not provided [RCV001711141]\|not specified [RCV000033512]	benign	12	112477630	112477630	Human	4	name
8604504	CV49007	single nucleotide variant	NM_002834.5(PTPN11):c.933+11C>T	RASopathy [RCV000033520]	benign	12	112477741	112477741	Human	1	name
8604509	CV49012	single nucleotide variant	NM_002834.5(PTPN11):c.1093-9C>A	Juvenile myelomonocytic leukemia [RCV003315541]\|LEOPARD syndrome 1 [RCV000390906]\|Metachondromatosis [RCV000341657]\|Noonan syndrome 1 [RCV000157023]\|Noonan syndrome and Noonan-related syndrome [RCV001813254]\|RASopathy [RCV000033525]\|not provided [RCV001811233]\|not specified [RCV000037605]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	112482065	112482065	Human	8	name
13592611	CV497629	single nucleotide variant	NM_002834.5(PTPN11):c.1448-5C>T	Cardiovascular phenotype [RCV002395546]\|RASopathy [RCV001478592]\|not specified [RCV000603401]	likely benign\|uncertain significance	12	112489019	112489019	Human	1	name
13530888	CV503555	single nucleotide variant	NM_002834.5(PTPN11):c.526-11T>C	RASopathy [RCV005091664]\|not specified [RCV000600868]	likely benign	12	112454553	112454553	Human	1	name
13534490	CV503897	single nucleotide variant	NM_002834.5(PTPN11):c.854-19T>G	RASopathy [RCV002063127]\|not specified [RCV000607335]	likely benign	12	112477632	112477632	Human	1	name
13539960	CV503899	single nucleotide variant	NM_002834.5(PTPN11):c.1448-8C>T	not specified [RCV000614013]	likely benign	12	112489016	112489016	Human		name
34896354	CV917491	single nucleotide variant	NM_002834.5(PTPN11):c.642+19T>C	not specified [RCV001193711]	uncertain significance	12	112454699	112454699	Human		name
38470275	CV940244	single nucleotide variant	NM_002834.5(PTPN11):c.1448-1G>A	RASopathy [RCV001207607]	likely pathogenic	12	112489023	112489023	Human	1	name
41407644	CV980344	single nucleotide variant	NM_002834.5(PTPN11):c.854-14T>A	Noonan syndrome 1 [RCV001280892]	uncertain significance	12	112477637	112477637	Human	1	name
8641003	CV99988	deletion	NM_002834.4(PTPN11):c.333-7delA	not provided [RCV000080035]	other\|not provided	12	112453188	112453188	Human		name
127295976	CV1143173	single nucleotide variant	NM_002834.5(PTPN11):c.1447+10C>T	RASopathy [RCV001497376]	likely benign	12	112488520	112488520	Human	1	name
150412760	CV1177546	duplication	NM_002834.5(PTPN11):c.333-262dup	not provided [RCV001547600]	likely benign	12	112452924	112452925	Human		name
150413733	CV1177547	deletion	NM_002834.5(PTPN11):c.525+275del	not provided [RCV001547891]	likely benign	12	112453647	112453647	Human		name
150427000	CV1187834	deletion	NM_002834.5(PTPN11):c.138-216del	not provided [RCV001560330]	likely benign	12	112450087	112450087	Human		name
150428422	CV1187839	single nucleotide variant	NM_002834.5(PTPN11):c.*32+267C>T	not provided [RCV001562249]	likely benign	12	112505063	112505063	Human	3	name
150428422	CV1187839	single nucleotide variant	NM_002834.5(PTPN11):c.*32+267C>T	not provided [RCV001562249]	likely benign	12	112505063	112505064	Human	3	name
150420301	CV1194611	deletion	NM_002834.5(PTPN11):c.*33-144del	not provided [RCV001570059]	likely benign	12	112505657	112505657	Human		name
150441564	CV1204570	duplication	NM_002834.5(PTPN11):c.525+275dup	not provided [RCV001583677]	likely benign	12	112453646	112453647	Human		name
150446271	CV1215633	deletion	NM_002834.5(PTPN11):c.642+159del	not provided [RCV001611226]	benign	12	112454819	112454819	Human		name
150505402	CV1222882	single nucleotide variant	NM_002834.5(PTPN11):c.1447+26G>A	not provided [RCV001621816]	benign	12	112488536	112488536	Human		name
150474796	CV1234503	duplication	NM_002834.5(PTPN11):c.642+159dup	not provided [RCV001651823]	benign	12	112454818	112454819	Human		name
150466208	CV1240369	duplication	NM_002834.5(PTPN11):c.138-216dup	not provided [RCV001650130]	benign	12	112450086	112450087	Human		name
150481554	CV1244121	single nucleotide variant	NM_002834.5(PTPN11):c.1600-11C>G	RASopathy [RCV003771816]\|not provided [RCV001652967]\|not specified [RCV001806245]	likely benign\|uncertain significance	12	112502133	112502133	Human	1	name
150461008	CV1253188	single nucleotide variant	NM_002834.5(PTPN11):c.525+272T>G	not provided [RCV001669517]	benign	12	112453659	112453659	Human		name
150481719	CV1258968	single nucleotide variant	NM_002834.5(PTPN11):c.*33-151A>C	not provided [RCV001686098]	benign	12	112505674	112505674	Human		name
150496256	CV1272837	single nucleotide variant	NM_002834.5(PTPN11):c.*33-152A>C	not provided [RCV001688760]	benign	12	112505673	112505673	Human		name
150521210	CV1290891	duplication	NM_002834.5(PTPN11):c.*33-144dup	not provided [RCV001732524]	benign	12	112505656	112505657	Human		name
150535879	CV1312081	single nucleotide variant	NM_002834.5(PTPN11):c.1447+28C>T	not provided [RCV001779892]	likely benign	12	112488538	112488538	Human		name
8692573	CV142542	single nucleotide variant	NM_002834.5(PTPN11):c.1379+20C>T	Cardiovascular phenotype [RCV002381441]\|Juvenile myelomonocytic leukemia [RCV003315856]\|Metachondromatosis [RCV005235034]\|Noonan syndrome 1 [RCV002505096]\|RASopathy [RCV002055762]\|not provided [RCV001812106]\|not specified [RCV000127653]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	112486649	112486649	Human	8	name
152126487	CV1528012	single nucleotide variant	NM_002834.5(PTPN11):c.1600-14C>T	RASopathy [RCV002098890]	likely benign	12	112502130	112502130	Human	1	name
152160628	CV1555133	single nucleotide variant	NM_002834.5(PTPN11):c.1599+17T>A	RASopathy [RCV002103728]	likely benign	12	112489192	112489192	Human	1	name
152112325	CV1558951	single nucleotide variant	NM_002834.5(PTPN11):c.1599+20C>A	RASopathy [RCV002134642]	likely benign	12	112489195	112489195	Human	1	name
152103873	CV1569888	single nucleotide variant	NM_002834.5(PTPN11):c.1093-12G>T	RASopathy [RCV002195889]	likely benign	12	112482062	112482062	Human	1	name
152078051	CV1602027	single nucleotide variant	NM_002834.5(PTPN11):c.1447+16G>T	RASopathy [RCV002148949]	likely benign	12	112488526	112488526	Human	1	name
152132212	CV1631248	single nucleotide variant	NM_002834.5(PTPN11):c.1092+10A>G	RASopathy [RCV002119234]	benign	12	112478025	112478025	Human	1	name
152093993	CV1648793	single nucleotide variant	NM_002834.5(PTPN11):c.1599+18G>A	RASopathy [RCV002078089]	likely benign	12	112489193	112489193	Human	1	name
9693657	CV178357	single nucleotide variant	NM_002834.5(PTPN11):c.1599+26G>A	Noonan syndrome [RCV000157026]	benign	12	112489201	112489201	Human	1	name
9693646	CV178358	single nucleotide variant	NM_002834.5(PTPN11):c.1599+33A>G	Noonan syndrome [RCV000156978]	benign	12	112489208	112489208	Human	1	name
156359293	CV1925384	single nucleotide variant	NM_002834.5(PTPN11):c.1092+18C>A	RASopathy [RCV002651519]	likely benign	12	112478033	112478033	Human	1	name
156444589	CV1948317	single nucleotide variant	NM_002834.5(PTPN11):c.1379+18C>T	RASopathy [RCV003115513]	likely benign	12	112486647	112486647	Human	1	name
156351191	CV2018939	single nucleotide variant	NM_002834.5(PTPN11):c.1712+11C>T	RASopathy [RCV002720193]	likely benign	12	112502267	112502267	Human	1	name
156106453	CV2061862	duplication	NM_002834.5(PTPN11):c.1713-14dup	RASopathy [RCV002824749]	benign	12	112504676	112504677	Human	1	name
156354306	CV2066257	single nucleotide variant	NM_002834.5(PTPN11):c.1448-16G>A	RASopathy [RCV002812019]	likely benign	12	112489008	112489008	Human	1	name
156008857	CV2075368	single nucleotide variant	NM_002834.5(PTPN11):c.1600-17A>G	RASopathy [RCV002843761]	likely benign	12	112502127	112502127	Human	1	name
155933705	CV2129341	single nucleotide variant	NM_002834.5(PTPN11):c.1092+16T>C	RASopathy [RCV002970782]	likely benign	12	112478031	112478031	Human	1	name
156147237	CV2130968	single nucleotide variant	NM_002834.5(PTPN11):c.1224+14C>T	RASopathy [RCV002982526]	likely benign	12	112482219	112482219	Human	1	name
11094126	CV230259	single nucleotide variant	NM_002834.5(PTPN11):c.1224+15G>A	LEOPARD syndrome 1 [RCV001197715]\|Noonan syndrome 1 [RCV002500700]\|RASopathy [RCV002057140]\|not specified [RCV000220650]	benign\|likely benign	12	112482220	112482220	Human	4	name
11547189	CV254418	single nucleotide variant	NM_002834.5(PTPN11):c.1448-38G>C	not specified [RCV000247441]	benign	12	112488986	112488986	Human		name
405157668	CV2865596	single nucleotide variant	NM_002834.5(PTPN11):c.1447+17G>A	RASopathy [RCV003539551]	likely benign	12	112488527	112488527	Human	1	name
405055691	CV2945775	deletion	NM_002834.5(PTPN11):c.1447+20del	RASopathy [RCV003655522]	likely benign	12	112488529	112488529	Human	1	name
405059500	CV2994649	single nucleotide variant	NM_002834.5(PTPN11):c.1712+15A>T	RASopathy [RCV003655844]	likely benign	12	112502271	112502271	Human	1	name
405061530	CV3013018	single nucleotide variant	NM_002834.5(PTPN11):c.1380-11T>C	RASopathy [RCV003655982]	likely benign	12	112488432	112488432	Human	1	name
405051227	CV3068874	single nucleotide variant	NM_002834.5(PTPN11):c.1599+17T>C	RASopathy [RCV003654754]	likely benign	12	112489192	112489192	Human	1	name
11647433	CV316045	deletion	NM_002834.5(PTPN11):c.41_46del	Metachondromatosis [RCV000276544]\|Noonan syndrome [RCV000315032]\|Noonan syndrome with multiple lentigines [RCV000362740]\|PTPN11-related disorder [RCV004537730]\|not specified [RCV000486749]	likely pathogenic\|likely benign\|uncertain significance	12	112505831	112505836	Human	3	name , alternate_id
402464799	CV3177130	single nucleotide variant	NM_002834.5(PTPN11):c.1448-13G>A	RASopathy [RCV003872761]	likely benign	12	112489011	112489011	Human	1	name
402490378	CV3182300	single nucleotide variant	NM_002834.5(PTPN11):c.1448-17T>C	RASopathy [RCV003876786]	likely benign	12	112489007	112489007	Human	1	name
597941316	CV3785764	single nucleotide variant	NM_002834.5(PTPN11):c.1225-10T>C	RASopathy [RCV005133656]	likely benign	12	112486465	112486465	Human	1	name
597918823	CV3789803	single nucleotide variant	NM_002834.5(PTPN11):c.1093-11A>G	RASopathy [RCV005129898]	likely benign	12	112482063	112482063	Human	1	name
597885695	CV3800010	single nucleotide variant	NM_002834.5(PTPN11):c.1713-14T>C	RASopathy [RCV005150489]	likely benign	12	112504681	112504681	Human	1	name
597948684	CV3801220	single nucleotide variant	NM_002834.5(PTPN11):c.1600-13T>C	RASopathy [RCV005135400]	likely benign	12	112502131	112502131	Human	1	name
597910872	CV3806565	single nucleotide variant	NM_002834.5(PTPN11):c.1599+16C>T	RASopathy [RCV005154132]	likely benign	12	112489191	112489191	Human	1	name
597970549	CV3832446	single nucleotide variant	NM_002834.5(PTPN11):c.1224+10T>C	RASopathy [RCV005166525]	likely benign	12	112482215	112482215	Human	1	name
597869209	CV3835130	single nucleotide variant	NM_002834.5(PTPN11):c.1448-19C>T	RASopathy [RCV005176306]	likely benign	12	112489005	112489005	Human	1	name
597956006	CV3838114	single nucleotide variant	NM_002834.5(PTPN11):c.1447+18C>G	RASopathy [RCV005191489]	likely benign	12	112488528	112488528	Human	1	name
597862504	CV3860555	single nucleotide variant	NM_002834.5(PTPN11):c.1600-16C>T	RASopathy [RCV005196083]	likely benign	12	112502128	112502128	Human	1	name
598127655	CV3882802	single nucleotide variant	NM_002834.5(PTPN11):c.1600-15T>C	not provided [RCV005234333]	likely benign	12	112502129	112502129	Human		name
616934366	CV4012364	single nucleotide variant	NM_002834.5(PTPN11):c.1379+10C>T	not specified [RCV005409400]	likely benign	12	112486639	112486639	Human		name
8603029	CV45368	single nucleotide variant	NM_002834.5(PTPN11):c.1380-14C>G	RASopathy [RCV003654178]\|not specified [RCV005237431]	likely benign\|uncertain significance	12	112488429	112488429	Human	1	name
9691225	CV49039	single nucleotide variant	NM_002834.5(PTPN11):c.1600-95C>T	Noonan syndrome [RCV000157011]\|not provided [RCV001642533]	benign	12	112502049	112502049	Human	1	name
13796753	CV552669	single nucleotide variant	NM_002834.5(PTPN11):c.138-181G>C	not provided [RCV000680735]	benign	12	112450137	112450137	Human		name
13797064	CV552671	single nucleotide variant	NM_002834.5(PTPN11):c.333-223A>G	not provided [RCV000680938]	benign	12	112452972	112452972	Human		name
13797603	CV552675	single nucleotide variant	NM_002834.5(PTPN11):c.643-340T>C	not provided [RCV000681335]	likely benign	12	112455610	112455610	Human		name
13797068	CV552679	single nucleotide variant	NM_002834.5(PTPN11):c.854-223C>T	not provided [RCV000680941]	likely benign	12	112477428	112477428	Human		name
150404434	CV1194609	single nucleotide variant	NM_002834.5(PTPN11):c.1379+308C>T	not provided [RCV001571152]	likely benign	12	112486937	112486937	Human		name
150438379	CV1264815	single nucleotide variant	NM_002834.5(PTPN11):c.1712+289G>C	not provided [RCV001678808]	benign	12	112502545	112502545	Human		name
401932434	CV2816882	duplication	NM_002834.5(PTPN11):c.1713-482dup	not provided [RCV003392037]	benign	12	112504206	112504207	Human		name
150500239	CV49042	single nucleotide variant	NM_002834.5(PTPN11):c.1713-146G>A	not provided [RCV001718352]	benign	12	112504549	112504549	Human	4	name
150500239	CV49042	single nucleotide variant	NM_002834.5(PTPN11):c.1713-146G>A	not provided [RCV001718352]	benign	12	112504549	112504550	Human	4	name
13797547	CV552681	single nucleotide variant	NM_002834.5(PTPN11):c.1379+273G>A	not provided [RCV000681306]	benign	12	112486902	112486902	Human	3	name
13797547	CV552681	single nucleotide variant	NM_002834.5(PTPN11):c.1379+273G>A	not provided [RCV000681306]	benign	12	112486902	112486903	Human	3	name
13797155	CV552684	single nucleotide variant	NM_002834.5(PTPN11):c.1599+229G>A	not provided [RCV000680991]	likely benign	12	112489404	112489404	Human		name
13797479	CV552685	single nucleotide variant	NM_002834.5(PTPN11):c.1599+293C>T	not provided [RCV000681250]	benign	12	112489468	112489468	Human		name
11651128	CV323302	microsatellite	NM_002834.5(PTPN11):c.*1157ATG[17]	Metachondromatosis [RCV000360287]\|Noonan syndrome [RCV000390604]\|Noonan syndrome with multiple lentigines [RCV000297210]\|not provided [RCV003391084]	likely benign\|uncertain significance	12	112506946	112506947	Human		name
11647201	CV323303	microsatellite	NM_002834.5(PTPN11):c.*1157ATG[16]	Metachondromatosis [RCV000367541]\|Noonan syndrome [RCV000332732]\|Noonan syndrome with multiple lentigines [RCV000275293]	uncertain significance	12	112506946	112506947	Human		name
11649560	CV330605	microsatellite	NM_002834.5(PTPN11):c.*1157ATG[13]	Metachondromatosis [RCV000288283]\|Noonan syndrome [RCV000326849]\|Noonan syndrome with multiple lentigines [RCV000389650]	uncertain significance	12	112506947	112506952	Human		name
11612750	CV330607	microsatellite	NM_002834.5(PTPN11):c.*1157ATG[14]	Metachondromatosis [RCV000354481]\|Noonan syndrome [RCV000319453]\|Noonan syndrome with multiple lentigines [RCV000261988]	likely benign	12	112506947	112506949	Human		name
401932431	CV2816880	deletion	NM_002834.5(PTPN11):c.921_933+11del	not provided [RCV003392035]	uncertain significance	12	112477715	112477738	Human		name
127322221	CV1143171	single nucleotide variant	NM_002834.5(PTPN11):c.6A>G (p.Thr2=)	Cardiovascular phenotype [RCV002368535]\|RASopathy [RCV001505031]	likely benign	12	112419117	112419117	Human	1	name
150488226	CV1251635	microsatellite	NM_002834.5(PTPN11):c.525+102TTTA[8]	not provided [RCV001674307]	benign	12	112453488	112453489	Human		name
151797406	CV1470488	deletion	NM_002834.5(PTPN11):c.1713-6_1730del	RASopathy [RCV001898746]	uncertain significance	12	112504689	112504712	Human	1	name
152056787	CV1588332	deletion	NM_002834.5(PTPN11):c.14+25_14+41del	RASopathy [RCV002190063]	likely benign	12	112419142	112419158	Human	1	name
155959624	CV2138248	duplication	NM_002834.5(PTPN11):c.14+15_14+31dup	RASopathy [RCV002972319]	likely benign	12	112419139	112419140	Human	1	name
405056774	CV2962723	deletion	NM_002834.5(PTPN11):c.15-15_15-12del	RASopathy [RCV003655604]	likely benign	12	112446260	112446263	Human	1	name
597706612	CV3585038	single nucleotide variant	NM_002834.5(PTPN11):c.6A>T (p.Thr2=)	Cardiovascular phenotype [RCV004989457]	likely benign	12	112419117	112419117	Human		name
152110389	CV1665405	single nucleotide variant	NM_002834.5(PTPN11):c.10C>A (p.Arg4=)	RASopathy [RCV002080167]	likely benign	12	112419121	112419121	Human	1	name
597950406	CV3798095	single nucleotide variant	NM_002834.5(PTPN11):c.15A>G (p.Arg5=)	RASopathy [RCV005135875]	uncertain significance	12	112446276	112446276	Human	1	name
598181369	CV3904794	single nucleotide variant	NM_002834.5(PTPN11):c.12G>A (p.Arg4=)	Cardiovascular phenotype [RCV005265188]	likely benign	12	112419123	112419123	Human		name
151781876	CV1422183	deletion	NM_002834.5(PTPN11):c.18del (p.Trp6fs)	RASopathy [RCV001972154]	pathogenic	12	112446278	112446278	Human	1	name
152049046	CV1615892	deletion	NM_002834.5(PTPN11):c.526-18_526-17del	RASopathy [RCV002166630]	likely benign	12	112454546	112454547	Human	1	name
152032133	CV1643005	single nucleotide variant	NM_002834.5(PTPN11):c.99T>C (p.Pro33=)	RASopathy [RCV002204907]	likely benign	12	112446360	112446360	Human	1	name
9833399	CV179457	deletion	NM_002834.5(PTPN11):c.33-17_33-13del	not provided [RCV001840208]	benign\|likely benign	12	112505804	112505808	Human		name
156095019	CV1980872	deletion	NM_002834.5(PTPN11):c.756+22_756+36del	RASopathy [RCV002621997]	likely benign	12	112456081	112456095	Human	1	name
11547672	CV254413	deletion	NM_002834.5(PTPN11):c.526-33_526-31del	not provided [RCV001582851]\|not specified [RCV000248072]	likely benign	12	112454529	112454531	Human		name
8599381	CV28388	single nucleotide variant	NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	LEOPARD syndrome 1 [RCV004795408]\|Metachondromatosis [RCV000988912]\|Noonan syndrome 1 [RCV000014277]\|Noonan syndrome 1 [RCV002496356]\|Noonan syndrome [RCV000211847]\|RASopathy [RCV000694389]\|See cases [RCV003156060]\|not provided [RCV000033445]	pathogenic\|likely pathogenic	12	112419116	112419116	Human	6	name
405062602	CV3018713	single nucleotide variant	NM_002834.5(PTPN11):c.42G>A (p.Val14=)	RASopathy [RCV003656068]	likely benign	12	112446303	112446303	Human	1	name
405050531	CV3057527	single nucleotide variant	NM_002834.5(PTPN11):c.60G>A (p.Leu20=)	RASopathy [RCV003654701]	likely benign	12	112446321	112446321	Human	1	name
405222529	CV3154852	microsatellite	NM_002834.5(PTPN11):c.854-13_854-12del	RASopathy [RCV003847347]	likely benign	12	112477635	112477636	Human		name
597670359	CV3707172	single nucleotide variant	NM_002834.5(PTPN11):c.2T>G (p.Met1Arg)	Noonan syndrome 1 [RCV005004819]	likely pathogenic	12	112419113	112419113	Human	2	name
8607429	CV53775	single nucleotide variant	NM_002834.5(PTPN11):c.48A>G (p.Ala16=)	Cardiovascular phenotype [RCV002336132]\|LEOPARD syndrome 1 [RCV000305683]\|Metachondromatosis [RCV000359447]\|Noonan syndrome 1 [RCV000390713]\|Noonan syndrome and Noonan-related syndrome [RCV001813329]\|RASopathy [RCV000520646]\|not provided [RCV000587695]\|not specified [RCV000037648]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112446309	112446309	Human	6	name
8607433	CV53779	single nucleotide variant	NM_002834.5(PTPN11):c.66A>G (p.Thr22=)	Cardiovascular phenotype [RCV005259986]\|RASopathy [RCV000654980]\|not specified [RCV000037655]	likely benign	12	112446327	112446327	Human	1	name
15169910	CV753101	single nucleotide variant	NM_002834.5(PTPN11):c.36T>C (p.Thr12=)	Cardiovascular phenotype [RCV004986689]\|RASopathy [RCV002065819]\|not specified [RCV001818837]	likely benign	12	112446297	112446297	Human	1	name
21075906	CV791197	deletion	NM_002834.5(PTPN11):c.643-61_643-38del	Metachondromatosis [RCV000988914]	likely benign	12	112455889	112455912	Human	1	name
150487758	CV1262790	single nucleotide variant	NM_002834.5(PTPN11):c.114T>G (p.Pro38=)	not provided [RCV001687188]	likely benign	12	112446375	112446375	Human		name
155720052	CV1830673	single nucleotide variant	NM_002834.5(PTPN11):c.156C>T (p.Thr52=)	Cardiovascular phenotype [RCV002405629]	likely benign	12	112450336	112450336	Human		name
155684808	CV1841281	single nucleotide variant	NM_002834.5(PTPN11):c.108T>C (p.Ser36=)	Cardiovascular phenotype [RCV002457459]\|RASopathy [RCV003539459]	likely benign	12	112446369	112446369	Human	1	name
155665976	CV1855495	single nucleotide variant	NM_002834.5(PTPN11):c.285C>A (p.Val95=)	Cardiovascular phenotype [RCV002435451]\|PTPN11-related disorder [RCV004545325]	likely benign	12	112450465	112450465	Human		name , alternate_id
156250121	CV2041011	single nucleotide variant	NM_002834.5(PTPN11):c.279A>T (p.Gly93=)	RASopathy [RCV002805977]	likely benign\|uncertain significance	12	112450459	112450459	Human	1	name
156147188	CV2188411	single nucleotide variant	NM_002834.5(PTPN11):c.294T>G (p.Leu98=)	RASopathy [RCV003056401]	likely benign	12	112450474	112450474	Human	1	name
11641217	CV264573	single nucleotide variant	NM_002834.5(PTPN11):c.10C>G (p.Arg4Gly)	not provided [RCV000353023]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112419121	112419121	Human		name
11636476	CV271467	single nucleotide variant	NM_002834.5(PTPN11):c.132C>T (p.Ser44=)	Cardiovascular phenotype [RCV002379138]\|PTPN11-related disorder [RCV004543100]\|RASopathy [RCV001428636]\|not provided [RCV000589141]\|not specified [RCV001175376]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112446393	112446393	Human	1	name , alternate_id
401769143	CV2734639	single nucleotide variant	NM_002834.5(PTPN11):c.18G>C (p.Trp6Cys)	Cardiovascular phenotype [RCV003283491]	uncertain significance	12	112446279	112446279	Human		name
405158498	CV2858299	single nucleotide variant	NM_002834.5(PTPN11):c.198T>C (p.Tyr66=)	Cardiovascular phenotype [RCV004985381]\|RASopathy [RCV003539534]	likely benign	12	112450378	112450378	Human	1	name
405160929	CV2893458	single nucleotide variant	NM_002834.5(PTPN11):c.11G>A (p.Arg4Gln)	RASopathy [RCV003540107]	likely pathogenic\|uncertain significance	12	112419122	112419122	Human	1	name
405162240	CV2903076	single nucleotide variant	NM_002834.5(PTPN11):c.210A>G (p.Lys70=)	RASopathy [RCV003540215]	likely benign	12	112450390	112450390	Human	1	name
405055491	CV2941818	single nucleotide variant	NM_002834.5(PTPN11):c.18G>T (p.Trp6Cys)	Cardiovascular phenotype [RCV005264464]\|RASopathy [RCV003655507]	uncertain significance	12	112446279	112446279	Human	1	name
405059125	CV2987024	single nucleotide variant	NM_002834.5(PTPN11):c.228G>A (p.Glu76=)	RASopathy [RCV003655817]	likely benign	12	112450408	112450408	Human	1	name
597706581	CV3585031	single nucleotide variant	NM_002834.5(PTPN11):c.204G>A (p.Gly68=)	Cardiovascular phenotype [RCV004989451]	likely benign	12	112450384	112450384	Human		name
597706593	CV3585033	single nucleotide variant	NM_002834.5(PTPN11):c.171G>A (p.Gln57=)	Cardiovascular phenotype [RCV004989453]	likely benign	12	112450351	112450351	Human		name
597706598	CV3585034	single nucleotide variant	NM_002834.5(PTPN11):c.291G>A (p.Glu97=)	Cardiovascular phenotype [RCV004989454]	likely benign	12	112450471	112450471	Human		name
598181370	CV3904795	single nucleotide variant	NM_002834.5(PTPN11):c.183T>C (p.Asp61=)	Cardiovascular phenotype [RCV005265189]	likely benign	12	112450363	112450363	Human		name
598181403	CV3904805	single nucleotide variant	NM_002834.5(PTPN11):c.156C>A (p.Thr52=)	Cardiovascular phenotype [RCV005265199]	likely benign	12	112450336	112450336	Human		name
598181473	CV3904828	single nucleotide variant	NM_002834.5(PTPN11):c.264A>G (p.Leu88=)	Cardiovascular phenotype [RCV005265222]	likely benign	12	112450444	112450444	Human		name
616937590	CV4011199	single nucleotide variant	NM_002834.5(PTPN11):c.234C>G (p.Val78=)	not specified [RCV005405045]	likely benign	12	112450414	112450414	Human		name
8603030	CV45369	single nucleotide variant	NM_002834.5(PTPN11):c.255C>T (p.His85=)	Cardiovascular phenotype [RCV000250837]\|Hereditary cancer-predisposing syndrome [RCV005251046]\|Juvenile myelomonocytic leukemia [RCV003315517]\|LEOPARD syndrome 1 [RCV000273664]\|Metachondromatosis [RCV000356750]\|Noonan syndrome 1 [RCV001094232]\|Noonan syndrome [RCV000030387]\|Noonan syndrome and Noona ... (more) n-related syndrome [RCV001813212]\|RASopathy [RCV000149837]\|not provided [RCV001723590]\|not specified [RCV000037642]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	12	112450435	112450435	Human	9	name
8604454	CV48953	single nucleotide variant	NM_002834.5(PTPN11):c.132C>A (p.Ser44=)	Cardiovascular phenotype [RCV004984650]\|not provided [RCV001719719]	benign\|likely benign	12	112446393	112446393	Human		name
13527253	CV510343	single nucleotide variant	NM_002834.5(PTPN11):c.162C>T (p.Ile54=)	Cardiovascular phenotype [RCV000619629]	likely benign	12	112450342	112450342	Human		name
15171633	CV768892	single nucleotide variant	NM_002834.5(PTPN11):c.117A>C (p.Gly39=)	RASopathy [RCV002545958]	likely benign	12	112446378	112446378	Human	1	name
38465881	CV918373	single nucleotide variant	NM_002834.5(PTPN11):c.231G>A (p.Leu77=)	not specified [RCV001195206]	likely benign	12	112450411	112450411	Human		name
38458135	CV926467	single nucleotide variant	NM_002834.5(PTPN11):c.222G>A (p.Leu74=)	Cardiovascular phenotype [RCV004986969]\|Noonan syndrome 1 [RCV002491699]\|RASopathy [RCV001222471]	likely benign\|uncertain significance	12	112450402	112450402	Human	8	name
126911172	CV1053471	single nucleotide variant	NM_002834.5(PTPN11):c.324C>A (p.Thr108=)	not provided [RCV001570061]\|not specified [RCV001375510]	likely benign	12	112450504	112450504	Human		name
127244235	CV1100853	single nucleotide variant	NM_002834.5(PTPN11):c.498A>G (p.Lys166=)	RASopathy [RCV001434983]	likely benign	12	112453360	112453360	Human	1	name
127280486	CV1100854	single nucleotide variant	NM_002834.5(PTPN11):c.507T>C (p.His169=)	RASopathy [RCV001446464]	likely benign	12	112453369	112453369	Human	1	name
127335460	CV1122309	single nucleotide variant	NM_002834.5(PTPN11):c.312T>C (p.Cys104=)	RASopathy [RCV001474311]	likely benign	12	112450492	112450492	Human	1	name
127288198	CV1152484	single nucleotide variant	NM_002834.5(PTPN11):c.80G>A (p.Gly27Asp)	not provided [RCV001508340]	uncertain significance	12	112446341	112446341	Human		name
150417775	CV1180935	duplication	NM_002834.5(PTPN11):c.642+158_642+159dup	not provided [RCV001550293]	likely benign	12	112454818	112454819	Human		name
150452073	CV1220948	microsatellite	NM_002834.5(PTPN11):c.1448-15_1448-13del	RASopathy [RCV002072906]\|not provided [RCV001612042]\|not specified [RCV003226482]	benign\|likely benign	12	112489006	112489008	Human		name
150439077	CV1247671	deletion	NM_002834.5(PTPN11):c.642+158_642+159del	not provided [RCV001666038]	benign	12	112454819	112454820	Human		name
150546725	CV1291627	single nucleotide variant	NM_002834.5(PTPN11):c.363A>G (p.Glu121=)	RASopathy [RCV002539827]\|not specified [RCV001733382]	likely benign	12	112453225	112453225	Human	1	name
150549871	CV1299702	single nucleotide variant	NM_002834.5(PTPN11):c.957C>T (p.Asn319=)	Cardiovascular phenotype [RCV002386529]\|Noonan syndrome 1 [RCV002477970]\|RASopathy [RCV003539405]\|not provided [RCV001752628]\|not specified [RCV004699460]	likely benign\|uncertain significance	12	112477880	112477880	Human	8	name
151740243	CV1386472	single nucleotide variant	NM_002834.5(PTPN11):c.34A>G (p.Thr12Ala)	RASopathy [RCV001893199]	uncertain significance	12	112446295	112446295	Human	1	name
8688321	CV138851	single nucleotide variant	NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser)	Cardiovascular phenotype [RCV002345428]\|LEOPARD syndrome 1 [RCV000318336]\|Metachondromatosis [RCV000261129]\|Noonan syndrome 1 [RCV000353569]\|Noonan syndrome and Noonan-related syndrome [RCV001813381]\|PTPN11-related disorder [RCV004530030]\|RASopathy [RCV000521827 ... (more) ]\|not provided [RCV000766661]\|not specified [RCV000121911]	benign\|likely benign\|uncertain significance\|not provided	12	112446314	112446314	Human	6	name , alternate_id
151713704	CV1464312	single nucleotide variant	NM_002834.5(PTPN11):c.793C>A (p.Arg265=)	Cardiovascular phenotype [RCV005262615]\|RASopathy [RCV001964799]	likely benign\|uncertain significance	12	112472980	112472980	Human	1	name
152161409	CV1531107	single nucleotide variant	NM_002834.5(PTPN11):c.768A>G (p.Gln256=)	Cardiovascular phenotype [RCV004982919]\|RASopathy [RCV002123263]\|not specified [RCV004700653]	likely benign	12	112472955	112472955	Human	1	name
152143274	CV1607543	single nucleotide variant	NM_002834.5(PTPN11):c.376T>C (p.Leu126=)	Cardiovascular phenotype [RCV004982903]\|RASopathy [RCV002101073]	likely benign	12	112453238	112453238	Human	1	name
152162404	CV1608859	single nucleotide variant	NM_002834.5(PTPN11):c.915C>T (p.Ile305=)	RASopathy [RCV002104048]	likely benign	12	112477712	112477712	Human	1	name
152145214	CV1661523	single nucleotide variant	NM_002834.5(PTPN11):c.567T>C (p.Ser189=)	Cardiovascular phenotype [RCV004656860]\|RASopathy [RCV002157326]	likely benign	12	112454605	112454605	Human	1	name
152156337	CV1668516	duplication	NM_002834.5(PTPN11):c.33-145_33-144dup	not provided [RCV002222798]	likely benign	12	112505656	112505657	Human		name
152981234	CV1676705	single nucleotide variant	NM_002834.5(PTPN11):c.28A>C (p.Asn10His)	Metachondromatosis [RCV002247769]	uncertain significance	12	112446289	112446289	Human	1	name
155265256	CV1704715	single nucleotide variant	NM_002834.5(PTPN11):c.91G>T (p.Ala31Ser)	not provided [RCV002284931]	uncertain significance	12	112446352	112446352	Human		name
9689320	CV175395	single nucleotide variant	NM_002834.5(PTPN11):c.558G>T (p.Arg186=)	Cardiovascular phenotype [RCV000617423]\|Juvenile myelomonocytic leukemia [RCV003315942]\|LEOPARD syndrome 1 [RCV001109481]\|Metachondromatosis [RCV001109479]\|Noonan syndrome 1 [RCV001109480]\|Noonan syndrome 1 [RCV002498744]\|Noonan syndrome and Noonan-related syndrome [RCV001813400]\|RASopathy [RCV00051 ... (more) 9311]\|not provided [RCV000586177]\|not specified [RCV000154804]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	112454596	112454596	Human	8	name
155721541	CV1817286	single nucleotide variant	NM_002834.5(PTPN11):c.864C>G (p.Thr288=)	Cardiovascular phenotype [RCV002449630]	likely benign	12	112477661	112477661	Human		name
155705268	CV1824115	single nucleotide variant	NM_002834.5(PTPN11):c.843C>T (p.Asn281=)	Cardiovascular phenotype [RCV002445937]	likely benign	12	112473030	112473030	Human		name
155996847	CV1875942	single nucleotide variant	NM_002834.5(PTPN11):c.342T>C (p.His114=)	RASopathy [RCV003076385]	likely benign	12	112453204	112453204	Human	1	name
156406138	CV1894746	single nucleotide variant	NM_002834.5(PTPN11):c.354T>G (p.Ser118=)	RASopathy [RCV003070247]	likely benign	12	112453216	112453216	Human	1	name
156090696	CV1919727	single nucleotide variant	NM_002834.5(PTPN11):c.351C>G (p.Leu117=)	Cardiovascular phenotype [RCV005264364]\|RASopathy [RCV002591900]	likely benign	12	112453213	112453213	Human	1	name
156377088	CV1930600	single nucleotide variant	NM_002834.5(PTPN11):c.912C>T (p.Tyr304=)	RASopathy [RCV002633929]	likely benign	12	112477709	112477709	Human	1	name
156237124	CV1952840	single nucleotide variant	NM_002834.5(PTPN11):c.528A>G (p.Glu176=)	Cardiovascular phenotype [RCV003365739]\|RASopathy [RCV002576095]	likely benign	12	112454566	112454566	Human	1	name
156353596	CV1962201	single nucleotide variant	NM_002834.5(PTPN11):c.654G>A (p.Thr218=)	Cardiovascular phenotype [RCV004983014]\|RASopathy [RCV002581233]	likely benign	12	112455961	112455961	Human	1	name
156055786	CV2003363	single nucleotide variant	NM_002834.5(PTPN11):c.696A>G (p.Glu232=)	RASopathy [RCV002659516]	likely benign	12	112456003	112456003	Human	1	name
156363941	CV2003422	single nucleotide variant	NM_002834.5(PTPN11):c.570G>A (p.Leu190=)	RASopathy [RCV002676431]	likely benign	12	112454608	112454608	Human	1	name
155955287	CV2069862	single nucleotide variant	NM_002834.5(PTPN11):c.645C>G (p.Pro215=)	RASopathy [RCV002816483]	likely benign	12	112455952	112455952	Human	1	name
156080556	CV2138165	single nucleotide variant	NM_002834.5(PTPN11):c.29A>G (p.Asn10Ser)	RASopathy [RCV002979245]\|not provided [RCV004763497]	uncertain significance	12	112446290	112446290	Human	1	name
156349182	CV2191571	single nucleotide variant	NM_002834.5(PTPN11):c.384A>G (p.Glu128=)	RASopathy [RCV003048199]	likely benign	12	112453246	112453246	Human	1	name
10767798	CV222205	single nucleotide variant	NM_002834.5(PTPN11):c.624A>G (p.Thr208=)	Cardiovascular phenotype [RCV004020525]\|RASopathy [RCV000205330]\|not specified [RCV000615915]	likely benign\|uncertain significance	12	112454662	112454662	Human	1	name
11090443	CV230258	single nucleotide variant	NM_002834.5(PTPN11):c.831T>C (p.Asn277=)	not specified [RCV000216054]	likely benign	12	112473018	112473018	Human		name
11345078	CV236790	single nucleotide variant	NM_002834.5(PTPN11):c.642G>A (p.Gln214=)	Cardiovascular phenotype [RCV000248716]\|Noonan syndrome 1 [RCV002494609]\|RASopathy [RCV000538418]\|not provided [RCV000680327]\|not specified [RCV000223920]	uncertain significance	12	112454680	112454680	Human	8	name
156435686	CV2402976	single nucleotide variant	NM_002834.5(PTPN11):c.501G>C (p.Val167=)	Noonan syndrome 1 [RCV003126404]	uncertain significance	12	112453363	112453363	Human	1	name
243059782	CV2413599	single nucleotide variant	NM_002834.5(PTPN11):c.849G>T (p.Leu283=)	Cardiovascular phenotype [RCV004246051]\|not provided [RCV003135160]	likely benign\|uncertain significance	12	112473036	112473036	Human		name
329381401	CV2423770	single nucleotide variant	NM_002834.5(PTPN11):c.555A>G (p.Glu185=)	Cardiovascular phenotype [RCV003188014]	likely benign	12	112454593	112454593	Human		name
329381405	CV2423772	single nucleotide variant	NM_002834.5(PTPN11):c.762A>G (p.Leu254=)	Cardiovascular phenotype [RCV003188016]\|RASopathy [RCV005101174]	likely benign	12	112472949	112472949	Human	1	name
11548223	CV254412	single nucleotide variant	NM_002834.5(PTPN11):c.381T>C (p.Thr127=)	RASopathy [RCV002058125]\|not specified [RCV000248803]	likely benign	12	112453243	112453243	Human	1	name
11545385	CV254415	single nucleotide variant	NM_002834.5(PTPN11):c.540C>T (p.Asp180=)	Cardiovascular phenotype [RCV002347958]\|RASopathy [RCV001482261]\|not provided [RCV001668484]\|not specified [RCV000245064]	likely benign	12	112454578	112454578	Human	1	name
401756909	CV2729576	single nucleotide variant	NM_002834.5(PTPN11):c.456C>T (p.Arg152=)	Cardiovascular phenotype [RCV003297537]	likely benign	12	112453318	112453318	Human		name
401756912	CV2734638	single nucleotide variant	NM_002834.5(PTPN11):c.813A>G (p.Gln271=)	Cardiovascular phenotype [RCV003297538]	likely benign	12	112473000	112473000	Human		name
401855223	CV2764072	single nucleotide variant	NM_002834.5(PTPN11):c.28A>T (p.Asn10Tyr)	Cardiovascular phenotype [RCV003339290]\|not provided [RCV004784143]	uncertain significance	12	112446289	112446289	Human		name
401888054	CV2781895	single nucleotide variant	NM_002834.5(PTPN11):c.984T>C (p.Ile328=)	Cardiovascular phenotype [RCV003367462]\|RASopathy [RCV003655422]	likely benign	12	112477907	112477907	Human	1	name
401932430	CV2816879	single nucleotide variant	NM_002834.5(PTPN11):c.432T>C (p.Pro144=)	Cardiovascular phenotype [RCV005264412]\|RASopathy [RCV005100020]\|not provided [RCV003392034]	likely benign	12	112453294	112453294	Human	1	name
405157617	CV2856602	single nucleotide variant	NM_002834.5(PTPN11):c.29A>C (p.Asn10Thr)	RASopathy [RCV003539596]\|not provided [RCV005220744]	uncertain significance	12	112446290	112446290	Human	1	name
405157500	CV2863014	single nucleotide variant	NM_002834.5(PTPN11):c.32T>C (p.Ile11Thr)	RASopathy [RCV003539587]	uncertain significance	12	112446293	112446293	Human	1	name
405157697	CV2877463	single nucleotide variant	NM_002834.5(PTPN11):c.697C>T (p.Leu233=)	RASopathy [RCV003539602]	likely benign	12	112456004	112456004	Human	1	name
405159355	CV2887502	single nucleotide variant	NM_002834.5(PTPN11):c.882T>C (p.Asp294=)	Cardiovascular phenotype [RCV005264436]\|RASopathy [RCV003539730]	likely benign	12	112477679	112477679	Human	1	name
405054344	CV2936493	single nucleotide variant	NM_002834.5(PTPN11):c.861T>C (p.His287=)	Cardiovascular phenotype [RCV004985453]\|RASopathy [RCV003655437]	likely benign	12	112477658	112477658	Human	1	name
405055372	CV2938714	single nucleotide variant	NM_002834.5(PTPN11):c.636C>A (p.Leu212=)	RASopathy [RCV003655499]	likely benign	12	112454674	112454674	Human	1	name
405057967	CV2966677	single nucleotide variant	NM_002834.5(PTPN11):c.825C>T (p.Asn275=)	Cardiovascular phenotype [RCV004673941]\|RASopathy [RCV003655723]	likely benign	12	112473012	112473012	Human	1	name
405059994	CV2969877	single nucleotide variant	NM_002834.5(PTPN11):c.55C>G (p.Leu19Val)	RASopathy [RCV003655713]	uncertain significance	12	112446316	112446316	Human	1	name
405062252	CV3021566	single nucleotide variant	NM_002834.5(PTPN11):c.645C>A (p.Pro215=)	RASopathy [RCV003656040]	likely benign	12	112455952	112455952	Human	1	name
405138442	CV3125459	single nucleotide variant	NM_002834.5(PTPN11):c.948C>G (p.Thr316=)	Cardiovascular phenotype [RCV005264516]\|RASopathy [RCV003816566]	likely benign	12	112477871	112477871	Human	1	name
405277921	CV3191303	single nucleotide variant	NM_002834.5(PTPN11):c.906A>G (p.Ser302=)	Cardiovascular phenotype [RCV004987146]\|PTPN11-related disorder [RCV004539306]	likely benign	12	112477703	112477703	Human		name , alternate_id
11615897	CV330590	single nucleotide variant	NM_002834.5(PTPN11):c.951G>A (p.Lys317=)	Cardiovascular phenotype [RCV002317829]\|LEOPARD syndrome 1 [RCV000347113]\|Metachondromatosis [RCV000382358]\|Noonan syndrome 1 [RCV000289778]\|Noonan syndrome and Noonan-related syndrome [RCV001813456]\|PTPN11-related disorder [RCV004544527]\|RASopathy [RCV000522223 ... (more) ]\|not specified [RCV001820906]	benign\|likely benign\|uncertain significance	12	112477874	112477874	Human	6	name , alternate_id
405675709	CV3386471	indel	NM_002834.5(PTPN11):c.1713-6_1731delinsG	Cardiovascular phenotype [RCV004516217]	uncertain significance	12	112504689	112504713	Human		name
597706626	CV3585041	single nucleotide variant	NM_002834.5(PTPN11):c.837T>C (p.Tyr279=)	Cardiovascular phenotype [RCV004989460]	likely benign	12	112473024	112473024	Human		name
597836553	CV3739791	single nucleotide variant	NM_002834.5(PTPN11):c.345A>T (p.Gly115=)	RASopathy [RCV005064011]	likely benign	12	112453207	112453207	Human	1	name
12833224	CV374586	single nucleotide variant	NM_002834.5(PTPN11):c.537C>T (p.Tyr179=)	Cardiovascular phenotype [RCV003168629]\|RASopathy [RCV001081959]\|not provided [RCV000418110]\|not specified [RCV001797715]	likely benign	12	112454575	112454575	Human	1	name
597938742	CV3788345	single nucleotide variant	NM_002834.5(PTPN11):c.945A>G (p.Glu315=)	RASopathy [RCV005133020]	likely benign	12	112477868	112477868	Human	1	name
597835420	CV3828214	single nucleotide variant	NM_002834.5(PTPN11):c.666T>C (p.Asn222=)	RASopathy [RCV005171106]	likely benign	12	112455973	112455973	Human	1	name
597974771	CV3831831	single nucleotide variant	NM_002834.5(PTPN11):c.834A>G (p.Arg278=)	RASopathy [RCV005168770]	uncertain significance	12	112473021	112473021	Human	1	name
597928168	CV3851744	single nucleotide variant	NM_002834.5(PTPN11):c.954C>T (p.Cys318=)	RASopathy [RCV005206212]	likely benign	12	112477877	112477877	Human	1	name
598126678	CV3882133	single nucleotide variant	NM_002834.5(PTPN11):c.40G>T (p.Val14Leu)	not provided [RCV005233684]	uncertain significance	12	112446301	112446301	Human		name
598181373	CV3904796	single nucleotide variant	NM_002834.5(PTPN11):c.558G>A (p.Arg186=)	Cardiovascular phenotype [RCV005265190]	likely benign	12	112454596	112454596	Human		name
598181381	CV3904798	single nucleotide variant	NM_002834.5(PTPN11):c.483T>C (p.Asn161=)	Cardiovascular phenotype [RCV005265192]	likely benign	12	112453345	112453345	Human		name
598181415	CV3904808	single nucleotide variant	NM_002834.5(PTPN11):c.615A>T (p.Thr205=)	Cardiovascular phenotype [RCV005265202]	likely benign	12	112454653	112454653	Human		name
598181416	CV3904809	single nucleotide variant	NM_002834.5(PTPN11):c.897G>A (p.Glu299=)	Cardiovascular phenotype [RCV005265203]	likely benign	12	112477694	112477694	Human		name
598181418	CV3904810	single nucleotide variant	NM_002834.5(PTPN11):c.852C>T (p.Pro284=)	Cardiovascular phenotype [RCV005265204]	likely benign	12	112473039	112473039	Human		name
598181435	CV3904815	single nucleotide variant	NM_002834.5(PTPN11):c.840A>G (p.Lys280=)	Cardiovascular phenotype [RCV005265209]	likely benign	12	112473027	112473027	Human		name
598181444	CV3904818	single nucleotide variant	NM_002834.5(PTPN11):c.804T>A (p.Gly268=)	Cardiovascular phenotype [RCV005265212]	likely benign	12	112472991	112472991	Human		name
598181467	CV3904826	single nucleotide variant	NM_002834.5(PTPN11):c.366A>G (p.Ala122=)	Cardiovascular phenotype [RCV005265220]	likely benign	12	112453228	112453228	Human		name
13520287	CV487331	single nucleotide variant	NM_002834.5(PTPN11):c.327T>G (p.Ser109=)	Cardiovascular phenotype [RCV002448824]\|Noonan syndrome 1 [RCV002491168]\|RASopathy [RCV001432258]\|not specified [RCV000587505]	likely benign\|uncertain significance	12	112450507	112450507	Human	8	name
8604452	CV48951	single nucleotide variant	NM_002834.4(PTPN11):c.56T>G (p.Leu19Arg)	Rasopathy [RCV000033449]	uncertain significance	12	112446317	112446317	Human		name
8604484	CV48985	single nucleotide variant	NM_002834.5(PTPN11):c.486C>T (p.Asp162=)	Cardiovascular phenotype [RCV000244264]\|Juvenile myelomonocytic leukemia [RCV003315535]\|PTPN11-related disorder [RCV004532488]\|RASopathy [RCV000033493]\|not provided [RCV001711362]\|not specified [RCV002265575]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	112453348	112453348	Human	3	name , alternate_id
8604501	CV49004	single nucleotide variant	NM_002834.5(PTPN11):c.879C>T (p.His293=)	Cardiovascular phenotype [RCV004018711]\|Metachondromatosis [RCV005234826]\|RASopathy [RCV000033515]\|not provided [RCV001719720]\|not specified [RCV000242514]	benign\|likely benign	12	112477676	112477676	Human	2	name
8604505	CV49008	single nucleotide variant	NM_002834.5(PTPN11):c.990A>C (p.Thr330=)	Cardiovascular phenotype [RCV002381281]\|Juvenile myelomonocytic leukemia [RCV003315538]\|Noonan syndrome and Noonan-related syndrome [RCV001813253]\|RASopathy [RCV000033521]\|not provided [RCV001711218]\|not specified [RCV000220386]	benign\|likely benign\|uncertain significance	12	112477913	112477913	Human	3	name
8604506	CV49009	single nucleotide variant	NM_002834.5(PTPN11):c.996C>T (p.Gly332=)	Cardiovascular phenotype [RCV002381282]\|Juvenile myelomonocytic leukemia [RCV003315539]\|Metachondromatosis [RCV005234827]\|RASopathy [RCV000033522]\|not provided [RCV001531173]\|not specified [RCV001264432]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	112477919	112477919	Human	4	name
13530643	CV497213	single nucleotide variant	NM_002834.5(PTPN11):c.519C>G (p.Arg173=)	Cardiovascular phenotype [RCV005260249]\|Noonan syndrome 1 [RCV002498983]\|RASopathy [RCV001466747]\|not specified [RCV000606201]	likely benign	12	112453381	112453381	Human	8	name
13526126	CV503545	single nucleotide variant	NM_002834.5(PTPN11):c.372A>G (p.Lys124=)	Cardiovascular phenotype [RCV005260244]\|not specified [RCV000603702]	likely benign	12	112453234	112453234	Human		name
13533292	CV510344	single nucleotide variant	NM_002834.5(PTPN11):c.426C>T (p.Ser142=)	Cardiovascular phenotype [RCV000617336]\|Noonan syndrome and Noonan-related syndrome [RCV001813532]\|RASopathy [RCV001448239]\|not provided [RCV001712724]\|not specified [RCV004782475]	likely benign\|uncertain significance	12	112453288	112453288	Human	1	name
13533341	CV510345	single nucleotide variant	NM_002834.5(PTPN11):c.874C>T (p.Leu292=)	Cardiovascular phenotype [RCV000617412]\|Noonan syndrome 1 [RCV002491334]\|RASopathy [RCV003655149]	likely benign	12	112477671	112477671	Human	8	name
8607427	CV53773	single nucleotide variant	NM_002834.5(PTPN11):c.315A>T (p.Ala105=)	not specified [RCV000037643]	likely benign	12	112450495	112450495	Human		name
13829464	CV579766	single nucleotide variant	NM_002834.5(PTPN11):c.438T>C (p.Asp146=)	Cardiovascular phenotype [RCV002315314]	likely benign	12	112453300	112453300	Human		name
15167611	CV687880	single nucleotide variant	NM_002834.5(PTPN11):c.616T>C (p.Leu206=)	Cardiovascular phenotype [RCV002352544]\|Noonan syndrome 1 [RCV002501269]\|PTPN11-related disorder [RCV004538257]\|RASopathy [RCV001455888]\|not provided [RCV000867523]	likely benign	12	112454654	112454654	Human	8	name , alternate_id
15167436	CV687881	single nucleotide variant	NM_002834.5(PTPN11):c.636C>G (p.Leu212=)	RASopathy [RCV000865132]	likely benign	12	112454674	112454674	Human	1	name
15170103	CV753102	single nucleotide variant	NM_002834.5(PTPN11):c.393A>G (p.Lys131=)	not provided [RCV000915735]	likely benign	12	112453255	112453255	Human		name
15170223	CV753103	single nucleotide variant	NM_002834.5(PTPN11):c.615A>G (p.Thr205=)	Cardiovascular phenotype [RCV002354755]\|RASopathy [RCV002065915]	likely benign	12	112454653	112454653	Human	1	name
26914180	CV839322	single nucleotide variant	NM_002834.5(PTPN11):c.28A>G (p.Asn10Asp)	Cardiovascular phenotype [RCV002434455]\|RASopathy [RCV001040499]\|not provided [RCV002282433]	uncertain significance	12	112446289	112446289	Human	1	name
38471142	CV935921	single nucleotide variant	NM_002834.5(PTPN11):c.489C>T (p.Gly163=)	RASopathy [RCV001210345]	likely pathogenic	12	112453351	112453351	Human	1	name
38597840	CV964372	single nucleotide variant	NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly)	LEOPARD syndrome 1 [RCV001253203]	likely pathogenic	12	112446353	112446353	Human	1	name
40814692	CV969665	single nucleotide variant	NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)	Noonan syndrome 1 [RCV005012701]\|Noonan syndrome [RCV001261096]\|RASopathy [RCV003539390]	uncertain significance	12	112446325	112446325	Human	4	name
126746411	CV1015372	single nucleotide variant	NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)	Cardiovascular phenotype [RCV002322261]\|Noonan syndrome 1 [RCV002493717]\|RASopathy [RCV001456317]\|not provided [RCV003456490]\|not specified [RCV001328460]	likely benign	12	112482112	112482112	Human	8	name
126730038	CV1030664	single nucleotide variant	NM_002834.5(PTPN11):c.133G>A (p.Val45Ile)	RASopathy [RCV001349203]	uncertain significance	12	112446394	112446394	Human	1	name
127238484	CV1100855	single nucleotide variant	NM_002834.5(PTPN11):c.1218T>C (p.Val406=)	Cardiovascular phenotype [RCV003298716]\|RASopathy [RCV001422915]	likely benign	12	112482199	112482199	Human	1	name
127328629	CV1122311	single nucleotide variant	NM_002834.5(PTPN11):c.1242G>T (p.Thr414=)	Cardiovascular phenotype [RCV002384757]\|RASopathy [RCV001469661]\|not specified [RCV005405615]	likely benign	12	112486492	112486492	Human	1	name
127296722	CV1122312	single nucleotide variant	NM_002834.5(PTPN11):c.1575A>G (p.Leu525=)	Cardiovascular phenotype [RCV004038513]\|RASopathy [RCV001452814]	likely benign	12	112489151	112489151	Human	1	name
127316711	CV1143172	single nucleotide variant	NM_002834.5(PTPN11):c.1176C>T (p.Ala392=)	Cardiovascular phenotype [RCV002329635]\|RASopathy [RCV001503093]	likely benign	12	112482157	112482157	Human	1	name
150426805	CV1187835	single nucleotide variant	NM_002834.5(PTPN11):c.290A>T (p.Glu97Val)	Cardiovascular phenotype [RCV004988685]\|RASopathy [RCV003771714]\|not provided [RCV001560047]	uncertain significance	12	112450470	112450470	Human	1	name
150427222	CV1187838	single nucleotide variant	NM_002834.5(PTPN11):c.1653C>T (p.Asp551=)	not provided [RCV001560643]	likely benign	12	112502197	112502197	Human		name
150459817	CV1202977	single nucleotide variant	NM_002834.5(PTPN11):c.145G>A (p.Gly49Arg)	not provided [RCV001586630]	uncertain significance	12	112450325	112450325	Human		name
150451630	CV1207244	single nucleotide variant	NM_002834.5(PTPN11):c.1365C>T (p.Val455=)	Cardiovascular phenotype [RCV002386480]\|not specified [RCV001582374]	likely benign	12	112486615	112486615	Human		name
150453634	CV1219861	single nucleotide variant	NM_002834.5(PTPN11):c.1362G>A (p.Pro454=)	Cardiovascular phenotype [RCV002386491]\|RASopathy [RCV002072907]\|not provided [RCV001612242]	likely benign	12	112486612	112486612	Human	1	name
150534878	CV1311667	single nucleotide variant	NM_002834.5(PTPN11):c.1011G>C (p.Thr337=)	not specified [RCV001779477]	likely benign	12	112477934	112477934	Human		name
151352171	CV1325126	single nucleotide variant	NM_002834.5(PTPN11):c.1662T>C (p.Ser554=)	Noonan syndrome and Noonan-related syndrome [RCV001813682]	uncertain significance	12	112502206	112502206	Human		name
151664387	CV1332546	single nucleotide variant	NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)	LEOPARD syndrome 1 [RCV001829267]\|Noonan syndrome 1 [RCV002503336]\|RASopathy [RCV002542777]	uncertain significance	12	112446388	112446388	Human	4	name
151748183	CV1353155	single nucleotide variant	NM_002834.5(PTPN11):c.164A>G (p.Lys55Arg)	RASopathy [RCV001912687]	uncertain significance	12	112450344	112450344	Human	1	name
8688322	CV138852	single nucleotide variant	NM_002834.5(PTPN11):c.148G>A (p.Ala50Thr)	RASopathy [RCV001854672]\|not specified [RCV000121912]	uncertain significance\|not provided	12	112450328	112450328	Human	1	name
151880871	CV1406021	single nucleotide variant	NM_002834.5(PTPN11):c.281A>G (p.Asp94Gly)	RASopathy [RCV001941013]	uncertain significance	12	112450461	112450461	Human	1	name
151808951	CV1407330	single nucleotide variant	NM_002834.5(PTPN11):c.276T>A (p.Asn92Lys)	RASopathy [RCV002048672]	uncertain significance	12	112450456	112450456	Human	1	name
8692574	CV142543	single nucleotide variant	NM_002834.5(PTPN11):c.1404G>C (p.Thr468=)	Cardiovascular phenotype [RCV002390292]\|RASopathy [RCV002055763]\|not specified [RCV000127654]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	112488467	112488467	Human	1	name
8692576	CV142545	single nucleotide variant	NM_002834.5(PTPN11):c.1620C>T (p.His540=)	Cardiovascular phenotype [RCV004019722]\|Noonan syndrome [RCV000157005]\|RASopathy [RCV001474997]\|not specified [RCV000127656]	benign\|likely benign	12	112502164	112502164	Human	2	name
8692577	CV142546	single nucleotide variant	NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)	Cardiovascular phenotype [RCV000241744]\|LEOPARD syndrome 1 [RCV000405570]\|Metachondromatosis [RCV000311634]\|Noonan syndrome 1 [RCV000368773]\|Noonan syndrome 1 [RCV002492485]\|PTPN11-related disorder [RCV004532529]\|RASopathy [RCV000519368]\|not specified [RCV000127 ... (more) 657]	benign\|likely benign\|uncertain significance	12	112502194	112502194	Human	8	name , alternate_id
151745685	CV1428192	single nucleotide variant	NM_002834.5(PTPN11):c.256G>A (p.Gly86Arg)	Noonan syndrome 1 [RCV005002682]\|RASopathy [RCV001926935]	uncertain significance	12	112450436	112450436	Human	3	name
151814191	CV1460512	single nucleotide variant	NM_002834.5(PTPN11):c.1302C>T (p.Gly434=)	Cardiovascular phenotype [RCV004039644]\|RASopathy [RCV001878573]	likely benign\|uncertain significance	12	112486552	112486552	Human	1	name
151878417	CV1476041	single nucleotide variant	NM_002834.5(PTPN11):c.246G>C (p.Met82Ile)	RASopathy [RCV002019827]	uncertain significance	12	112450426	112450426	Human	1	name
151853774	CV1485184	single nucleotide variant	NM_002834.5(PTPN11):c.283G>A (p.Val95Ile)	RASopathy [RCV002033513]	uncertain significance	12	112450463	112450463	Human	1	name
151854890	CV1506458	single nucleotide variant	NM_002834.5(PTPN11):c.1098A>G (p.Lys366=)	RASopathy [RCV001937823]\|not provided [RCV003389887]	likely benign\|uncertain significance	12	112482079	112482079	Human	1	name
151742601	CV1514791	single nucleotide variant	NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys)	Noonan syndrome 1 [RCV002492325]\|RASopathy [RCV002022467]\|not provided [RCV005414633]	uncertain significance	12	112450469	112450469	Human	3	name
152098416	CV1530744	single nucleotide variant	NM_002834.5(PTPN11):c.1635T>C (p.Ile545=)	Cardiovascular phenotype [RCV003161586]\|RASopathy [RCV002132941]	likely benign	12	112502179	112502179	Human	1	name
152120040	CV1547322	single nucleotide variant	NM_002834.5(PTPN11):c.1242G>C (p.Thr414=)	RASopathy [RCV002081427]	likely benign	12	112486492	112486492	Human	1	name
152158160	CV1552826	single nucleotide variant	NM_002834.5(PTPN11):c.1233G>A (p.Thr411=)	Cardiovascular phenotype [RCV004982884]\|Noonan syndrome 1 [RCV002498174]\|RASopathy [RCV002180444]	likely benign	12	112486483	112486483	Human	8	name
152046721	CV1561492	single nucleotide variant	NM_002834.5(PTPN11):c.1311C>T (p.Asp437=)	Cardiovascular phenotype [RCV005264207]\|RASopathy [RCV002108426]	likely benign	12	112486561	112486561	Human	1	name
152102552	CV1590824	single nucleotide variant	NM_002834.5(PTPN11):c.1659G>A (p.Thr553=)	Cardiovascular phenotype [RCV002398232]\|RASopathy [RCV002115533]	likely benign	12	112502203	112502203	Human	1	name
152162933	CV1600665	single nucleotide variant	NM_002834.5(PTPN11):c.1398A>G (p.Thr466=)	Cardiovascular phenotype [RCV004982928]\|RASopathy [RCV002141237]	likely benign	12	112488461	112488461	Human	1	name
152052158	CV1607192	single nucleotide variant	NM_002834.5(PTPN11):c.1008C>T (p.Asn336=)	RASopathy [RCV002109108]	likely benign	12	112477931	112477931	Human	1	name
152073496	CV1638015	single nucleotide variant	NM_002834.5(PTPN11):c.1521A>G (p.Thr507=)	RASopathy [RCV002192105]	likely benign	12	112489097	112489097	Human	1	name
152039007	CV1642507	single nucleotide variant	NM_002834.5(PTPN11):c.1731T>G (p.Ala577=)	RASopathy [RCV002107456]	likely benign	12	112504713	112504713	Human	1	name
152032342	CV1643062	single nucleotide variant	NM_002834.5(PTPN11):c.1425T>C (p.Leu475=)	RASopathy [RCV002204951]	likely benign	12	112488488	112488488	Human	1	name
152050226	CV1657159	single nucleotide variant	NM_002834.5(PTPN11):c.1356A>G (p.Ala452=)	RASopathy [RCV002189319]	likely benign	12	112486606	112486606	Human	1	name
153303951	CV1690569	single nucleotide variant	NM_002834.5(PTPN11):c.281A>T (p.Asp94Val)	RASopathy [RCV005095967]\|not provided [RCV002269613]	uncertain significance	12	112450461	112450461	Human	1	name
155265312	CV1695504	single nucleotide variant	NM_002834.5(PTPN11):c.1224A>G (p.Gln408=)	Cardiovascular phenotype [RCV004656914]\|RASopathy [RCV005096013]\|not provided [RCV002280236]	likely benign\|uncertain significance	12	112482205	112482205	Human	1	name
9692115	CV175394	single nucleotide variant	NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)	LEOPARD syndrome 1 [RCV004562308]\|Metachondromatosis [RCV004562307]\|Noonan syndrome 1 [RCV004562306]\|Noonan syndrome 3 [RCV000589756]\|Noonan syndrome [RCV000151687]	pathogenic\|likely pathogenic\|uncertain significance	12	112450386	112450386	Human	5	name
9690970	CV175396	single nucleotide variant	NM_002834.5(PTPN11):c.1161C>T (p.Asn387=)	Cardiovascular phenotype [RCV004019884]\|RASopathy [RCV001469624]\|not specified [RCV000156668]	likely benign	12	112482142	112482142	Human	1	name
9690333	CV175539	single nucleotide variant	NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala)	Noonan syndrome [RCV000156008]\|RASopathy [RCV000780656]	pathogenic\|likely pathogenic	12	112450362	112450362	Human	2	name
9688972	CV175540	single nucleotide variant	NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)	Juvenile myelomonocytic leukemia [RCV000824740]\|Noonan syndrome 1 [RCV000995620]\|Noonan syndrome and Noonan-related syndrome [RCV001813395]\|RASopathy [RCV000154367]\|not provided [RCV000680626]	pathogenic\|likely pathogenic\|uncertain significance	12	112450394	112450394	Human	5	name
9689103	CV175543	single nucleotide variant	NM_002834.5(PTPN11):c.1551G>A (p.Ala517=)	Cardiovascular phenotype [RCV002316978]\|Metachondromatosis [RCV005235047]\|Noonan syndrome 1 [RCV005003500]\|RASopathy [RCV001359353]\|not specified [RCV000154531]	benign\|likely benign\|uncertain significance	12	112489127	112489127	Human	8	name
155716388	CV1785163	single nucleotide variant	NM_002834.5(PTPN11):c.1129C>T (p.Leu377=)	Cardiovascular phenotype [RCV002326023]\|RASopathy [RCV003099199]	likely benign	12	112482110	112482110	Human	1	name
9833400	CV179443	single nucleotide variant	NM_002834.5(PTPN11):c.172A>T (p.Asn58Tyr)	RASopathy [RCV001174933]\|not provided [RCV000159042]	pathogenic\|likely pathogenic	12	112450352	112450352	Human	1	name
9833401	CV179444	single nucleotide variant	NM_002834.5(PTPN11):c.211T>G (p.Phe71Val)	Noonan syndrome 1 [RCV004593995]\|not provided [RCV000159044]	pathogenic	12	112450391	112450391	Human	1	name
9833402	CV179445	single nucleotide variant	NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln)	Noonan syndrome 1 [RCV002288669]\|Noonan syndrome and Noonan-related syndrome [RCV001813410]\|RASopathy [RCV002281971]\|not provided [RCV000159045]	pathogenic\|likely pathogenic	12	112450406	112450406	Human	3	name
155745384	CV1834384	single nucleotide variant	NM_002834.5(PTPN11):c.1704C>T (p.Pro568=)	Cardiovascular phenotype [RCV002414724]\|RASopathy [RCV003539450]	likely benign	12	112502248	112502248	Human	1	name
155693476	CV1837161	single nucleotide variant	NM_002834.5(PTPN11):c.1530G>A (p.Gln510=)	Cardiovascular phenotype [RCV002392559]\|RASopathy [RCV003539446]	likely benign	12	112489106	112489106	Human	1	name
155745758	CV1838816	single nucleotide variant	NM_002834.5(PTPN11):c.185A>G (p.Tyr62Cys)	Cardiovascular phenotype [RCV002414886]\|RASopathy [RCV003539452]	uncertain significance	12	112450365	112450365	Human	1	name
156128675	CV1921472	single nucleotide variant	NM_002834.5(PTPN11):c.217A>G (p.Thr73Ala)	RASopathy [RCV002623226]	likely pathogenic	12	112450397	112450397	Human	1	name
156152266	CV1934444	single nucleotide variant	NM_002834.5(PTPN11):c.1609A>C (p.Arg537=)	RASopathy [RCV002663935]	likely benign	12	112502153	112502153	Human	1	name
156411492	CV1973430	single nucleotide variant	NM_002834.5(PTPN11):c.1578G>A (p.Gln526=)	RASopathy [RCV002608267]	likely benign	12	112489154	112489154	Human	1	name
156240595	CV2028255	single nucleotide variant	NM_002834.5(PTPN11):c.1302C>A (p.Gly434=)	RASopathy [RCV002745648]	likely benign	12	112486552	112486552	Human	1	name
156084541	CV2060438	single nucleotide variant	NM_002834.5(PTPN11):c.206A>C (p.Glu69Ala)	RASopathy [RCV002823966]	likely pathogenic	12	112450386	112450386	Human	1	name
156226869	CV2081145	single nucleotide variant	NM_002834.5(PTPN11):c.237G>C (p.Gln79His)	RASopathy [RCV002853422]	likely pathogenic	12	112450417	112450417	Human	1	name
155980074	CV2101666	single nucleotide variant	NM_002834.5(PTPN11):c.1458C>T (p.Cys486=)	Cardiovascular phenotype [RCV004983166]\|RASopathy [RCV002907661]	likely benign	12	112489034	112489034	Human	1	name
156350712	CV2157457	single nucleotide variant	NM_002834.5(PTPN11):c.1623A>G (p.Glu541=)	Cardiovascular phenotype [RCV005264313]\|RASopathy [RCV003030851]	likely benign	12	112502167	112502167	Human	1	name
156194817	CV2175447	single nucleotide variant	NM_002834.5(PTPN11):c.1410T>C (p.Ile470=)	RASopathy [RCV003057957]	likely benign	12	112488473	112488473	Human	1	name
11050653	CV226150	single nucleotide variant	NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)	Cardiovascular phenotype [RCV002415881]\|Juvenile myelomonocytic leukemia [RCV005251095]\|Noonan syndrome 1 [RCV001250211]\|not provided [RCV000210038]	likely pathogenic\|uncertain significance	12	112450385	112450385	Human	4	name
11051369	CV226151	single nucleotide variant	NM_002834.5(PTPN11):c.272A>G (p.Lys91Arg)	not specified [RCV000210044]	uncertain significance	12	112450452	112450452	Human		name
11090112	CV230257	single nucleotide variant	NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr)	Juvenile myelomonocytic leukemia [RCV000215649]\|Noonan syndrome 1 [RCV003992237]\|not provided [RCV001090939]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112450361	112450361	Human	3	name
11551273	CV254416	single nucleotide variant	NM_002834.5(PTPN11):c.1011G>A (p.Thr337=)	Cardiovascular phenotype [RCV003362737]\|Noonan syndrome 1 [RCV002500898]\|RASopathy [RCV001410326]\|not provided [RCV000680322]\|not specified [RCV000252825]	likely benign	12	112477934	112477934	Human	8	name
11547125	CV254417	single nucleotide variant	NM_002834.5(PTPN11):c.1278C>T (p.His426=)	Cardiovascular phenotype [RCV002374417]\|RASopathy [RCV001484623]\|not provided [RCV000680323]\|not specified [RCV000247355]	likely benign	12	112486528	112486528	Human	1	name
11550788	CV258714	single nucleotide variant	NM_002834.5(PTPN11):c.1404G>A (p.Thr468=)	Cardiovascular phenotype [RCV000252206]\|RASopathy [RCV003765563]	pathogenic\|likely benign	12	112488467	112488467	Human	1	name
11636254	CV264575	single nucleotide variant	NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg)	LEOPARD syndrome 1 [RCV001528118]\|RASopathy [RCV002519051]\|not provided [RCV000265572]	likely pathogenic\|uncertain significance	12	112446376	112446376	Human	2	name
329952192	CV2668899	single nucleotide variant	NM_002834.5(PTPN11):c.1698G>A (p.Thr566=)	Cardiovascular phenotype [RCV004985320]\|not specified [RCV003230983]	likely benign	12	112502242	112502242	Human		name
11643328	CV272270	single nucleotide variant	NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala)	Cardiovascular phenotype [RCV004021238]\|Noonan syndrome 1 [RCV005003613]\|PTPN11-related disorder [RCV004529475]\|RASopathy [RCV001349385]\|not provided [RCV000390743]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112450355	112450355	Human	8	name , alternate_id
401769144	CV2734640	single nucleotide variant	NM_002834.5(PTPN11):c.1692T>G (p.Thr564=)	Cardiovascular phenotype [RCV003283492]	likely benign	12	112502236	112502236	Human		name
11639581	CV273762	single nucleotide variant	NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=)	Cardiovascular phenotype [RCV002411174]\|PTPN11-related disorder [RCV004535430]\|RASopathy [RCV001493011]\|not provided [RCV000681310]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112504722	112504722	Human	1	name , alternate_id
401875923	CV2750141	single nucleotide variant	NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)	LEOPARD syndrome 1 [RCV003333582]\|Metachondromatosis [RCV003333581]\|Noonan syndrome 1 [RCV003333580]	likely pathogenic	12	112450393	112450393	Human	3	name
401919108	CV2794763	single nucleotide variant	NM_002834.5(PTPN11):c.1506A>G (p.Ser502=)	Cardiovascular phenotype [RCV005264405]\|not specified [RCV003388438]	likely benign	12	112489082	112489082	Human		name
401932433	CV2816881	single nucleotide variant	NM_002834.5(PTPN11):c.1362G>C (p.Pro454=)	not provided [RCV003392036]	likely benign	12	112486612	112486612	Human		name
8599358	CV28363	single nucleotide variant	NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)	Noonan syndrome 1 [RCV000014252]\|Noonan syndrome 1 [RCV000576667]\|Noonan syndrome 1 [RCV000762883]\|Noonan syndrome [RCV000157001]\|Noonan syndrome and Noonan-related syndrome [RCV001813190]\|RASopathy [RCV000033471]\|not provided [RCV000212890]	pathogenic	12	112450394	112450394	Human	8	name
8599359	CV28364	single nucleotide variant	NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	Cardiovascular phenotype [RCV002426502]\|Noonan syndrome 1 [RCV000014253]\|Noonan syndrome 1 [RCV000515213]\|Noonan syndrome 3 [RCV000587329]\|Noonan syndrome [RCV000157006]\|Noonan syndrome and Noonan-related syndrome [RCV001813191]\|RASopathy [RCV000707460]\|not provided [RCV000157679]	pathogenic\|likely pathogenic	12	112450395	112450395	Human	9	name
8599363	CV28368	single nucleotide variant	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	Cardiovascular phenotype [RCV002408460]\|Failure to thrive [RCV000590972]\|Juvenile myelomonocytic leukemia [RCV000824739]\|Noonan syndrome 1 [RCV000014257]\|Noonan syndrome 1 [RCV000762882]\|Noonan syndrome [RCV000156993]\|Noonan syndrome and Noonan-related syndrome [RCV001813195]\|PTPN11 ... (more) t:700;'>PTPN11-related disorder [RCV004532340]\|RASopathy [RCV000033466]\|not provided [RCV000153794]	pathogenic\|association	12	112450364	112450364	Human	20	name , alternate_id
8599364	CV28369	single nucleotide variant	NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	Juvenile myelomonocytic leukemia [RCV000824738]\|LEOPARD syndrome 1 [RCV001270166]\|Metachondromatosis [RCV003147285]\|Non-immune hydrops fetalis [RCV001376030]\|Noonan syndrome 1 [RCV000014258]\|Noonan syndrome 1 [RCV002490363]\|Noonan syndrome and Noonan-related syndrome [RCV001813196]\|PTPN11 ... (more) -weight:700;'>PTPN11-related disorder [RCV004532341]\|RASopathy [RCV000033464]\|Short stature [RCV000626829]\|not provided [RCV000077856]	pathogenic\|likely pathogenic	12	112450362	112450362	Human	14	name , alternate_id
8599367	CV28372	single nucleotide variant	NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	Hereditary cancer-predisposing syndrome [RCV005251036]\|LEOPARD syndrome 1 [RCV003137518]\|Lymphoma [RCV000722014]\|Metachondromatosis [RCV003147286]\|Noonan syndrome 1 [RCV000014261]\|Noonan syndrome 1 [RCV000515408]\|Noonan syndrome 1 [RCV001249667]\|Noonan syndrome 3 [RCV000588678]\|Noonan syndrome [RCV0 ... (more) 00157000]\|Noonan syndrome and Noonan-related syndrome [RCV001813198]\|PTPN11-related disorder [RCV004528109]\|RASopathy [RCV000033468]\|not provided [RCV000077857]	pathogenic\|conflicting interpretations of pathogenicity	12	112450368	112450368	Human	12	name , alternate_id
8599368	CV28373	single nucleotide variant	NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)	Cardiovascular phenotype [RCV002415414]\|LEOPARD syndrome 1 [RCV003147288]\|Metachondromatosis [RCV003147287]\|Noonan syndrome 1 [RCV000014262]\|Noonan syndrome 1 [RCV000515312]\|Noonan syndrome [RCV000156985]\|Noonan syndrome and Noonan-related syndrome [RCV001813199]\|RASopathy [RCV000033475]\|not provide ... (more) d [RCV000212891]	pathogenic\|conflicting interpretations of pathogenicity	12	112450398	112450398	Human	8	name
8599370	CV28375	single nucleotide variant	NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	Juvenile myelomonocytic leukemia [RCV000014264]\|Malignant neoplastic disease [RCV001254876]\|Noonan syndrome 1 [RCV004813039]\|Noonan syndrome [RCV000156974]\|PTPN11-related disorder [RCV004545728]\|RASopathy [RCV000033476]\|not provided [RCV000212892]	pathogenic\|likely pathogenic\|uncertain significance\|other	12	112450406	112450406	Human	7	name , alternate_id
8599371	CV28376	single nucleotide variant	NM_002834.5(PTPN11):c.227A>T (p.Glu76Val)	Juvenile myelomonocytic leukemia [RCV000014265]\|Noonan syndrome and Noonan-related syndrome [RCV001813201]\|RASopathy [RCV000781775]\|not provided [RCV000788241]	pathogenic\|other	12	112450407	112450407	Human	3	name
8599372	CV28377	single nucleotide variant	NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)	Juvenile myelomonocytic leukemia [RCV000014266]\|RASopathy [RCV002513040]\|not provided [RCV000159046]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters\|other	12	112450407	112450407	Human	3	name
8599373	CV28378	single nucleotide variant	NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)	Juvenile myelomonocytic leukemia [RCV000014267]\|not provided [RCV000033477]	pathogenic\|likely pathogenic\|other	12	112450407	112450407	Human	2	name
8599374	CV28379	single nucleotide variant	NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	Cardiovascular phenotype [RCV002453257]\|Noonan syndrome 1 [RCV000014268]\|Noonan syndrome 1 [RCV000515381]\|Noonan syndrome 3 [RCV000590740]\|Noonan syndrome [RCV000037641]\|Noonan syndrome and Noonan-related syndrome [RCV001813202]\|PTPN11-related disorder [RCV00453 ... (more) 2344]\|RASopathy [RCV000033480]\|not provided [RCV000157680]	pathogenic	12	112450416	112450416	Human	9	name , alternate_id
405158997	CV2869527	single nucleotide variant	NM_002834.5(PTPN11):c.1104C>T (p.Val368=)	RASopathy [RCV003539702]	likely benign	12	112482085	112482085	Human	1	name
405160588	CV2892788	single nucleotide variant	NM_002834.5(PTPN11):c.1017T>C (p.Asn339=)	RASopathy [RCV003540078]	likely benign	12	112477940	112477940	Human	1	name
405161892	CV2895713	single nucleotide variant	NM_002834.5(PTPN11):c.104A>T (p.Lys35Ile)	RASopathy [RCV003540187]	uncertain significance	12	112446365	112446365	Human	1	name
405163580	CV2897526	single nucleotide variant	NM_002834.5(PTPN11):c.1329C>T (p.His443=)	RASopathy [RCV003540243]	likely benign	12	112486579	112486579	Human	1	name
405161530	CV2898972	single nucleotide variant	NM_002834.5(PTPN11):c.236A>C (p.Gln79Pro)	RASopathy [RCV003540157]	pathogenic	12	112450416	112450416	Human	1	name
405163937	CV2910057	single nucleotide variant	NM_002834.5(PTPN11):c.185A>C (p.Tyr62Ser)	RASopathy [RCV003540328]	likely pathogenic	12	112450365	112450365	Human	1	name
405163322	CV2916421	single nucleotide variant	NM_002834.5(PTPN11):c.1362G>T (p.Pro454=)	RASopathy [RCV003540303]	likely benign	12	112486612	112486612	Human	1	name
405164366	CV2925497	single nucleotide variant	NM_002834.5(PTPN11):c.1320G>A (p.Glu440=)	RASopathy [RCV003540387]	likely benign	12	112486570	112486570	Human	1	name
405164564	CV2931127	single nucleotide variant	NM_002834.5(PTPN11):c.1326G>A (p.Val442=)	RASopathy [RCV003540379]	uncertain significance	12	112486576	112486576	Human	1	name
405165704	CV2931649	single nucleotide variant	NM_002834.5(PTPN11):c.1086A>G (p.Arg362=)	RASopathy [RCV003540399]	likely benign	12	112478009	112478009	Human	1	name
405054977	CV2937814	single nucleotide variant	NM_002834.5(PTPN11):c.1290C>T (p.Ser430=)	RASopathy [RCV003655470]	likely benign	12	112486540	112486540	Human	1	name
405055449	CV2945350	single nucleotide variant	NM_002834.5(PTPN11):c.1461T>C (p.Asp487=)	RASopathy [RCV003655504]	likely benign	12	112489037	112489037	Human	1	name
405056174	CV2950604	single nucleotide variant	NM_002834.5(PTPN11):c.1533C>T (p.Tyr511=)	RASopathy [RCV003655558]	likely benign	12	112489109	112489109	Human	1	name
405056021	CV2957098	single nucleotide variant	NM_002834.5(PTPN11):c.1338G>A (p.Gln446=)	RASopathy [RCV003655545]	likely benign	12	112486588	112486588	Human	1	name
405057726	CV2969764	single nucleotide variant	NM_002834.5(PTPN11):c.1515C>T (p.Val505=)	Cardiovascular phenotype [RCV005264472]\|RASopathy [RCV003655702]	likely benign	12	112489091	112489091	Human	1	name
405062038	CV3010878	single nucleotide variant	NM_002834.5(PTPN11):c.1479C>T (p.Thr493=)	RASopathy [RCV003656023]	likely benign	12	112489055	112489055	Human	1	name
405051862	CV3063155	single nucleotide variant	NM_002834.5(PTPN11):c.1242G>A (p.Thr414=)	Cardiovascular phenotype [RCV004374257]\|RASopathy [RCV003654804]	likely benign	12	112486492	112486492	Human	1	name
405086436	CV3122091	single nucleotide variant	NM_002834.5(PTPN11):c.1680C>T (p.Leu560=)	PTPN11-related disorder [RCV004542281]\|RASopathy [RCV003810846]	likely benign	12	112502224	112502224	Human	1	name , alternate_id
405675695	CV3386468	single nucleotide variant	NM_002834.5(PTPN11):c.1140T>C (p.Tyr380=)	Cardiovascular phenotype [RCV004516214]	likely benign	12	112482121	112482121	Human		name
407472448	CV3468367	single nucleotide variant	NM_002834.5(PTPN11):c.1146C>T (p.Val382=)	Cardiovascular phenotype [RCV004662507]\|RASopathy [RCV005102403]	likely benign	12	112482127	112482127	Human	1	name
407491656	CV3496659	single nucleotide variant	NM_002834.5(PTPN11):c.184T>C (p.Tyr62His)	Noonan syndrome [RCV004698371]	likely pathogenic	12	112450364	112450364	Human	1	name
407573625	CV3497992	single nucleotide variant	NM_002834.5(PTPN11):c.293T>C (p.Leu98Pro)	not provided [RCV004701978]	uncertain significance	12	112450473	112450473	Human		name
597706554	CV3585024	single nucleotide variant	NM_002834.5(PTPN11):c.224C>A (p.Ala75Asp)	Cardiovascular phenotype [RCV004989445]	uncertain significance	12	112450404	112450404	Human		name
597706562	CV3585026	single nucleotide variant	NM_002834.5(PTPN11):c.1326G>T (p.Val442=)	Cardiovascular phenotype [RCV004989447]	likely benign	12	112486576	112486576	Human		name
597706565	CV3585027	single nucleotide variant	NM_002834.5(PTPN11):c.1332T>C (p.His444=)	Cardiovascular phenotype [RCV004989448]	likely benign	12	112486582	112486582	Human		name
597706571	CV3585028	single nucleotide variant	NM_002834.5(PTPN11):c.1353T>C (p.Asp451=)	Cardiovascular phenotype [RCV004989449]	likely benign	12	112486603	112486603	Human		name
597706577	CV3585030	single nucleotide variant	NM_002834.5(PTPN11):c.1551G>C (p.Ala517=)	Cardiovascular phenotype [RCV004989450]	likely benign	12	112489127	112489127	Human		name
597706587	CV3585032	single nucleotide variant	NM_002834.5(PTPN11):c.1056G>A (p.Val352=)	Cardiovascular phenotype [RCV004989452]	likely benign	12	112477979	112477979	Human		name
597706602	CV3585036	single nucleotide variant	NM_002834.5(PTPN11):c.1263G>A (p.Arg421=)	Cardiovascular phenotype [RCV004989455]	likely benign	12	112486513	112486513	Human		name
597706607	CV3585037	single nucleotide variant	NM_002834.5(PTPN11):c.1272G>A (p.Pro424=)	Cardiovascular phenotype [RCV004989456]	likely benign	12	112486522	112486522	Human		name
597706618	CV3585039	single nucleotide variant	NM_002834.5(PTPN11):c.1734A>G (p.Arg578=)	Cardiovascular phenotype [RCV004989458]	likely benign	12	112504716	112504716	Human		name
12742463	CV360062	single nucleotide variant	NM_002834.5(PTPN11):c.178G>C (p.Gly60Arg)	RASopathy [RCV001201204]\|not provided [RCV000413720]	pathogenic\|likely pathogenic	12	112450358	112450358	Human	1	name
12742510	CV360078	single nucleotide variant	NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)	Cardiovascular phenotype [RCV002411277]\|Noonan syndrome 1 [RCV005010309]\|PTPN11-related disorder [RCV004735501]\|RASopathy [RCV000691488]\|not provided [RCV000413828]\|not specified [RCV000780655]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112450353	112450353	Human	8	name , alternate_id
12840209	CV363390	single nucleotide variant	NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp)	Acute myeloid leukemia [RCV000420417]\|B-cell chronic lymphocytic leukemia [RCV000430256]\|Neoplasm of brain [RCV000440942]\|Neuroblastoma [RCV000441142]	likely pathogenic	12	112450395	112450395	Human	4	name
597664825	CV3732563	single nucleotide variant	NM_002834.5(PTPN11):c.124A>T (p.Thr42Ser)	not provided [RCV005004032]	likely pathogenic	12	112446385	112446385	Human		name
597835093	CV3739615	single nucleotide variant	NM_002834.5(PTPN11):c.1626T>C (p.Tyr542=)	RASopathy [RCV005063834]	likely benign	12	112502170	112502170	Human	1	name
12838383	CV374591	single nucleotide variant	NM_002834.5(PTPN11):c.1023T>C (p.Phe341=)	Cardiovascular phenotype [RCV003298442]\|RASopathy [RCV002059804]\|not provided [RCV000426865]	likely benign	12	112477946	112477946	Human	1	name
597851470	CV3761897	single nucleotide variant	NM_002834.5(PTPN11):c.1509G>A (p.Gly503=)	Cardiovascular phenotype [RCV005264592]\|RASopathy [RCV005087994]	likely benign	12	112489085	112489085	Human	1	name
597917931	CV3767940	single nucleotide variant	NM_002834.5(PTPN11):c.155C>A (p.Thr52Asn)	RASopathy [RCV005114741]	uncertain significance	12	112450335	112450335	Human	1	name
597917938	CV3767941	single nucleotide variant	NM_002834.5(PTPN11):c.254A>G (p.His85Arg)	RASopathy [RCV005114742]	uncertain significance	12	112450434	112450434	Human	1	name
597868329	CV3787343	deletion	NM_002834.5(PTPN11):c.887del (p.Asp296fs)	RASopathy [RCV005122228]	pathogenic	12	112477684	112477684	Human	1	name
597890853	CV3839808	single nucleotide variant	NM_002834.5(PTPN11):c.224C>G (p.Ala75Gly)	RASopathy [RCV005179700]	uncertain significance	12	112450404	112450404	Human	1	name
597924703	CV3840456	single nucleotide variant	NM_002834.5(PTPN11):c.1137A>G (p.Glu379=)	RASopathy [RCV005184926]	likely benign	12	112482118	112482118	Human	1	name
597903908	CV3846055	single nucleotide variant	NM_002834.5(PTPN11):c.1344C>T (p.Ser448=)	RASopathy [RCV005181677]	likely benign	12	112486594	112486594	Human	1	name
597937588	CV3862733	single nucleotide variant	NM_002834.5(PTPN11):c.1020C>T (p.Asp340=)	Cardiovascular phenotype [RCV005258048]\|RASopathy [RCV005208005]	likely benign	12	112477943	112477943	Human	1	name
598181391	CV3904801	single nucleotide variant	NM_002834.5(PTPN11):c.1266C>T (p.Thr422=)	Cardiovascular phenotype [RCV005265195]	likely benign	12	112486516	112486516	Human		name
598181393	CV3904802	single nucleotide variant	NM_002834.5(PTPN11):c.1611G>A (p.Arg537=)	Cardiovascular phenotype [RCV005265196]	likely benign	12	112502155	112502155	Human		name
598181422	CV3904811	single nucleotide variant	NM_002834.5(PTPN11):c.1761A>G (p.Gln587=)	Cardiovascular phenotype [RCV005265205]	likely benign	12	112504743	112504743	Human		name
598181438	CV3904816	single nucleotide variant	NM_002834.5(PTPN11):c.1725C>T (p.Asp575=)	Cardiovascular phenotype [RCV005265210]	likely benign	12	112504707	112504707	Human		name
598181455	CV3904821	single nucleotide variant	NM_002834.5(PTPN11):c.1392C>T (p.Gly464=)	Cardiovascular phenotype [RCV005265215]	likely benign	12	112488455	112488455	Human		name
598181466	CV3904825	single nucleotide variant	NM_002834.5(PTPN11):c.1770A>G (p.Lys590=)	Cardiovascular phenotype [RCV005265219]	likely benign	12	112504752	112504752	Human		name
616939976	CV4014300	single nucleotide variant	NM_002834.5(PTPN11):c.1596G>A (p.Glu532=)	not provided [RCV005413794]	likely benign	12	112489172	112489172	Human		name
8602471	CV40231	single nucleotide variant	NM_002834.5(PTPN11):c.295A>T (p.Lys99Ter)	Metachondromatosis [RCV000024261]	pathogenic	12	112450475	112450475	Human	1	name
13215022	CV429364	single nucleotide variant	NM_002834.5(PTPN11):c.1221A>G (p.Gly407=)	Cardiovascular phenotype [RCV002367691]\|Juvenile myelomonocytic leukemia [RCV003316649]\|LEOPARD syndrome 1 [RCV001112241]\|Metachondromatosis [RCV001112243]\|Noonan syndrome 1 [RCV001112242]\|RASopathy [RCV000522823]\|not specified [RCV000501992]	benign\|uncertain significance	12	112482202	112482202	Human	8	name
13491818	CV461618	single nucleotide variant	NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu)	RASopathy [RCV000534502]\|not provided [RCV000593077]	pathogenic\|likely pathogenic\|uncertain significance	12	112450393	112450393	Human	1	name
13479479	CV461622	single nucleotide variant	NM_002834.5(PTPN11):c.223G>C (p.Ala75Pro)	RASopathy [RCV000528111]	uncertain significance	12	112450403	112450403	Human	1	name
13489625	CV461631	single nucleotide variant	NM_002834.5(PTPN11):c.1191G>T (p.Thr397=)	Cardiovascular phenotype [RCV005260232]\|RASopathy [RCV000555446]	likely benign	12	112482172	112482172	Human	1	name
13487373	CV462420	single nucleotide variant	NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)	Noonan syndrome 1 [RCV004796235]\|Noonan syndrome and Noonan-related syndrome [RCV000788007]\|RASopathy [RCV000531774]	likely pathogenic\|uncertain significance	12	112450347	112450347	Human	8	name
8604453	CV48952	single nucleotide variant	NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	Cardiovascular phenotype [RCV002399352]\|Noonan syndrome 1 [RCV001330777]\|Noonan syndrome 1 [RCV002482941]\|Noonan syndrome [RCV000157002]\|Noonan syndrome and Noonan-related syndrome [RCV001813241]\|PTPN11-related disorder [RCV005222713]\|RASopathy [RCV000227194]\|no ... (more) t provided [RCV000157675]	pathogenic\|conflicting interpretations of pathogenicity	12	112446385	112446385	Human	8	name , alternate_id
8604455	CV48954	single nucleotide variant	NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)	Noonan syndrome 1 [RCV002287349]\|Noonan syndrome [RCV000037621]\|RASopathy [RCV000809051]\|not provided [RCV000033452]	likely pathogenic\|uncertain significance	12	112450335	112450335	Human	3	name
8604456	CV48955	single nucleotide variant	NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)	Noonan syndrome 1 [RCV000995619]\|Noonan syndrome [RCV000154561]\|Noonan syndrome and Noonan-related syndrome [RCV000788006]\|PTPN11-related disorder [RCV004528152]\|RASopathy [RCV000557839]\|not provided [RCV000518841]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112450346	112450346	Human	3	name , alternate_id
8604457	CV48956	single nucleotide variant	NM_002834.5(PTPN11):c.172A>C (p.Asn58His)	Noonan syndrome 1 [RCV002470725]\|Noonan syndrome [RCV000037626]\|RASopathy [RCV000456871]\|not provided [RCV000157676]	pathogenic	12	112450352	112450352	Human	3	name
8604458	CV48957	single nucleotide variant	NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	Cardiovascular phenotype [RCV002408493]\|LEOPARD syndrome 1 [RCV003333002]\|Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991571]\|Metachondromatosis [RCV003333001]\|Noonan syndrome 1 [RCV000768061]\|Noonan syndrome 1 [RCV001283812]\|Noonan syndrome [RCV000037627] ... (more) \|Noonan syndrome and Noonan-related syndrome [RCV001813242]\|PTPN11-related disorder [RCV004532483]\|RASopathy [RCV000234028]\|not provided [RCV000033455]	pathogenic	12	112450352	112450352	Human	9	name , alternate_id
8604459	CV48958	single nucleotide variant	NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)	Noonan syndrome 1 [RCV001358687]\|Noonan syndrome 1 [RCV004795945]\|Noonan syndrome 3 [RCV000587067]\|Noonan syndrome [RCV000037629]\|Noonan syndrome and Noonan-related syndrome [RCV001813243]\|RASopathy [RCV000556984]\|not provided [RCV000157677]	pathogenic\|likely pathogenic	12	112450354	112450354	Human	9	name
8604460	CV48959	single nucleotide variant	NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)	Noonan syndrome 1 [RCV000037630]\|Noonan syndrome 1 [RCV000515267]\|Noonan syndrome [RCV000211846]\|RASopathy [RCV000588173]\|not provided [RCV000033457]	pathogenic\|likely pathogenic	12	112450354	112450354	Human	4	name
8604461	CV48960	single nucleotide variant	NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)	Noonan syndrome 1 [RCV002490444]\|Noonan syndrome [RCV000151684]\|PTPN11-related disorder [RCV004532484]\|RASopathy [RCV001219186]\|See cases [RCV003985264]\|not provided [RCV000157700]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	12	112450358	112450358	Human	8	name , alternate_id
8604463	CV48963	single nucleotide variant	NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	Cardiovascular phenotype [RCV002408494]\|Noonan syndrome 1 [RCV000416546]\|Noonan syndrome [RCV000037631]\|Noonan syndrome and Noonan-related syndrome [RCV001813244]\|PTPN11-related disorder [RCV005229843]\|RASopathy [RCV000459297]\|not provided [RCV000033461]	pathogenic	12	112450359	112450359	Human	3	name , alternate_id
8604464	CV48964	single nucleotide variant	NM_002834.5(PTPN11):c.181G>C (p.Asp61His)	Cardiovascular phenotype [RCV002408495]\|Noonan syndrome 1 [RCV004698420]\|Noonan syndrome 3 [RCV000589874]\|PTPN11-related disorder [RCV004724759]\|RASopathy [RCV005089335]\|not provided [RCV000033462]	pathogenic	12	112450361	112450361	Human	4	name , alternate_id
8604465	CV48965	single nucleotide variant	NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	Cardiovascular phenotype [RCV002408496]\|LEOPARD syndrome 1 [RCV003147305]\|Metachondromatosis [RCV003147304]\|Noonan syndrome 1 [RCV000576434]\|Noonan syndrome 1 [RCV001775072]\|Noonan syndrome 1 [RCV003224113]\|Noonan syndrome [RCV000599619]\|Noonan syndrome and Noonan-related syndrome [RCV001813245]\|... (more) an style='font-weight:700;'>PTPN11-related disorder [RCV004532485]\|RASopathy [RCV000033463]\|not provided [RCV000157678]	pathogenic	12	112450361	112450361	Human	8	name , alternate_id
8604466	CV48966	single nucleotide variant	NM_002834.5(PTPN11):c.182A>T (p.Asp61Val)	RASopathy [RCV000687319]	pathogenic\|uncertain significance	12	112450362	112450362	Human	1	name
8604467	CV48967	single nucleotide variant	NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn)	Noonan syndrome 1 [RCV002052009]\|RASopathy [RCV002001115]	pathogenic\|likely pathogenic	12	112450364	112450364	Human	2	name
8604468	CV48968	single nucleotide variant	NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)	Cardiovascular phenotype [RCV002415446]\|Noonan syndrome 1 [RCV004795946]\|Noonan syndrome [RCV000037633]\|RASopathy [RCV000033469]\|not provided [RCV000212889]	pathogenic	12	112450385	112450385	Human	3	name
8604469	CV48969	single nucleotide variant	NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)	Noonan syndrome 1 [RCV003150933]\|Noonan syndrome 3 [RCV000586528]\|Noonan syndrome [RCV000151689]\|PTPN11-related disorder [RCV004532486]\|RASopathy [RCV000686123]\|not provided [RCV000033470]	pathogenic\|likely pathogenic	12	112450391	112450391	Human	4	name , alternate_id
8604470	CV48970	single nucleotide variant	NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)	Cardiovascular phenotype [RCV005259985]\|Noonan syndrome [RCV000037635]\|Noonan syndrome with multiple lentigines [RCV003103718]\|RASopathy [RCV001852674]\|not provided [RCV000033472]	pathogenic\|likely pathogenic	12	112450394	112450394	Human	3	name
8604471	CV48971	single nucleotide variant	NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro)	Noonan syndrome 1 [RCV003152671]\|RASopathy [RCV003654180]\|not provided [RCV000033474]	pathogenic\|likely pathogenic	12	112450397	112450397	Human	2	name
8604472	CV48972	single nucleotide variant	NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)	Noonan syndrome 1 [RCV000762884]\|Noonan syndrome 1 [RCV003150934]\|Noonan syndrome [RCV000037639]\|Noonan syndrome and Noonan-related syndrome [RCV001813246]\|PTPN11-related disorder [RCV004734537]\|RASopathy [RCV000033478]\|not provided [RCV000254683]	pathogenic	12	112450408	112450408	Human	8	name , alternate_id
8604473	CV48973	single nucleotide variant	NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)	Cardiovascular phenotype [RCV002453282]\|Noonan syndrome 1 [RCV000856760]\|Noonan syndrome [RCV000037638]\|RASopathy [RCV000472904]\|not provided [RCV000033479]	pathogenic	12	112450408	112450408	Human	3	name
8604474	CV48974	single nucleotide variant	NM_002834.5(PTPN11):c.244A>G (p.Met82Val)	Noonan syndrome 1 [RCV002477045]\|RASopathy [RCV000522529]\|not provided [RCV000724722]	uncertain significance	12	112450424	112450424	Human	3	name
8604475	CV48975	single nucleotide variant	NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln)	Noonan syndrome 1 [RCV002496499]\|RASopathy [RCV002513325]\|not provided [RCV000033482]	uncertain significance	12	112450469	112450469	Human	3	name
8604625	CV49880	single nucleotide variant	NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys)	Cardiovascular phenotype [RCV002408501]\|RASopathy [RCV002514147]\|not provided [RCV000034327]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	12	112450358	112450358	Human	1	name
8604626	CV49881	single nucleotide variant	NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)	RASopathy [RCV003654183]\|not provided [RCV000413699]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112450395	112450395	Human	1	name
13525323	CV503898	single nucleotide variant	NM_002834.5(PTPN11):c.1281C>T (p.Gly427=)	Cardiovascular phenotype [RCV003302940]\|Noonan syndrome and Noonan-related syndrome [RCV001813522]\|RASopathy [RCV000685929]\|not provided [RCV003392447]\|not specified [RCV000603003]	likely benign\|uncertain significance	12	112486531	112486531	Human	1	name
13538168	CV503901	single nucleotide variant	NM_002834.5(PTPN11):c.1467C>T (p.Asp489=)	Cardiovascular phenotype [RCV002395603]\|RASopathy [RCV000869454]\|not specified [RCV000611432]	likely benign	12	112489043	112489043	Human	1	name
13540906	CV504536	single nucleotide variant	NM_002834.5(PTPN11):c.1047C>T (p.Asn349=)	Cardiovascular phenotype [RCV002404683]\|Noonan syndrome 1 [RCV002506474]\|RASopathy [RCV002531637]\|not specified [RCV000615368]	likely benign	12	112477970	112477970	Human	8	name
8607416	CV53762	single nucleotide variant	NM_002834.5(PTPN11):c.119A>G (p.Asp40Gly)	not specified [RCV000037607]	uncertain significance	12	112446380	112446380	Human		name
8607419	CV53765	single nucleotide variant	NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)	Cardiovascular phenotype [RCV000618095]\|LEOPARD syndrome 1 [RCV000404739]\|Metachondromatosis [RCV000335748]\|Noonan syndrome 1 [RCV000297146]\|RASopathy [RCV001030074]\|not provided [RCV000726049]\|not specified [RCV000037613]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112489025	112489025	Human	6	name
8607421	CV53767	single nucleotide variant	NM_002834.5(PTPN11):c.1683G>A (p.Pro561=)	Cardiovascular phenotype [RCV004018842]\|RASopathy [RCV002054674]\|not specified [RCV000037624]	likely benign	12	112502227	112502227	Human	1	name
8607423	CV53769	single nucleotide variant	NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)	Cardiovascular phenotype [RCV000619648]\|Noonan syndrome 1 [RCV002496597]\|RASopathy [RCV000546916]\|not provided [RCV001689592]\|not specified [RCV000037628]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	112504728	112504728	Human	8	name
8607424	CV53770	single nucleotide variant	NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)	LEOPARD syndrome 1 [RCV002464090]\|Noonan syndrome 1 [RCV003313932]\|Noonan syndrome 1 [RCV005007952]\|Noonan syndrome [RCV000037634]\|RASopathy [RCV000206837]\|not provided [RCV000405696]	pathogenic\|likely pathogenic	12	112450389	112450389	Human	5	name
8607426	CV53772	single nucleotide variant	NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys)	Noonan syndrome [RCV000037640]\|RASopathy [RCV003764672]\|not provided [RCV005222722]	likely pathogenic	12	112450415	112450415	Human	2	name
13797314	CV552667	single nucleotide variant	NM_002834.5(PTPN11):c.103A>C (p.Lys35Gln)	Cardiovascular phenotype [RCV004026167]\|not provided [RCV000681118]	uncertain significance	12	112446364	112446364	Human		name
13796843	CV552668	single nucleotide variant	NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)	Cardiovascular phenotype [RCV004985065]\|Noonan syndrome 1 [RCV002493124]\|RASopathy [RCV000805888]\|not provided [RCV000680807]\|not specified [RCV001193111]	likely pathogenic\|uncertain significance	12	112446388	112446388	Human	8	name
13797790	CV552674	deletion	NM_002834.5(PTPN11):c.505del (p.His169fs)	not provided [RCV000681427]	pathogenic	12	112453365	112453365	Human		name
13796555	CV552680	single nucleotide variant	NM_002834.5(PTPN11):c.1173C>T (p.Ser391=)	Cardiovascular phenotype [RCV002331314]\|PTPN11-related disorder [RCV004535695]\|RASopathy [RCV001402324]\|not provided [RCV000680642]	likely benign	12	112482154	112482154	Human	1	name , alternate_id
14732783	CV640639	single nucleotide variant	NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)	Noonan syndrome 1 [RCV002501074]\|RASopathy [RCV000802012]	likely benign\|uncertain significance	12	112477964	112477964	Human	3	name
15168102	CV693143	single nucleotide variant	NM_002834.5(PTPN11):c.1143C>T (p.Gly381=)	Cardiovascular phenotype [RCV002454027]\|Noonan syndrome and Noonan-related syndrome [RCV001813562]\|RASopathy [RCV001458618]\|not provided [RCV000874210]	likely benign\|uncertain significance	12	112482124	112482124	Human	1	name
15168408	CV693144	single nucleotide variant	NM_002834.5(PTPN11):c.1212A>C (p.Ser404=)	not provided [RCV000878881]	likely benign	12	112482193	112482193	Human		name
15167912	CV693145	single nucleotide variant	NM_002834.5(PTPN11):c.1266C>G (p.Thr422=)	Cardiovascular phenotype [RCV002442864]\|PTPN11-related disorder [RCV004735847]\|RASopathy [RCV000871655]	likely benign	12	112486516	112486516	Human	1	name , alternate_id
8616632	CV70453	single nucleotide variant	NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	Noonan syndrome 1 [RCV000414941]\|Noonan syndrome 1 [RCV003224860]\|Noonan syndrome and Noonan-related syndrome [RCV001813372]\|RASopathy [RCV002513672]\|See cases [RCV002287357]\|not provided [RCV000049228]	pathogenic\|likely pathogenic	12	112450359	112450359	Human	5	name
15169209	CV738453	single nucleotide variant	NM_002834.5(PTPN11):c.1479C>G (p.Thr493=)	Cardiovascular phenotype [RCV005262135]\|not provided [RCV000896973]	likely benign	12	112489055	112489055	Human		name
15170778	CV768893	single nucleotide variant	NM_002834.5(PTPN11):c.1071G>C (p.Thr357=)	RASopathy [RCV001430141]	likely benign	12	112477994	112477994	Human	1	name
8627183	CV82327	single nucleotide variant	NM_002834.5(PTPN11):c.1296T>G (p.Pro432=)	Cardiovascular phenotype [RCV004989439]	likely benign\|not provided	12	112486546	112486546	Human		name
38469055	CV935920	single nucleotide variant	NM_002834.5(PTPN11):c.103A>G (p.Lys35Glu)	RASopathy [RCV001204608]	uncertain significance	12	112446364	112446364	Human	1	name
38463971	CV947789	deletion	NM_002834.5(PTPN11):c.409del (p.Val137fs)	RASopathy [RCV001235274]	pathogenic	12	112453271	112453271	Human	1	name
40814694	CV969666	single nucleotide variant	NM_002834.5(PTPN11):c.171G>T (p.Gln57His)	Noonan syndrome [RCV001261097]	likely pathogenic	12	112450351	112450351	Human	1	name
40903925	CV975717	single nucleotide variant	NM_002834.5(PTPN11):c.179G>A (p.Gly60Asp)	Noonan syndrome 1 [RCV001268963]\|not provided [RCV001815530]	pathogenic\|likely pathogenic	12	112450359	112450359	Human	1	name
126728872	CV985624	single nucleotide variant	NM_002834.5(PTPN11):c.1089A>G (p.Gly363=)	not specified [RCV001293559]	likely benign	12	112478012	112478012	Human		name
126773311	CV1010126	single nucleotide variant	NM_002834.5(PTPN11):c.470A>G (p.Lys157Arg)	Cardiovascular phenotype [RCV002341673]\|RASopathy [RCV001324259]	uncertain significance	12	112453332	112453332	Human	1	name
126753518	CV1010127	single nucleotide variant	NM_002834.5(PTPN11):c.733C>G (p.Gln245Glu)	Cardiovascular phenotype [RCV005262380]\|RASopathy [RCV001316496]	uncertain significance	12	112456040	112456040	Human	1	name
150419599	CV1180934	single nucleotide variant	NM_002834.5(PTPN11):c.575A>G (p.Asp192Gly)	Cardiovascular phenotype [RCV002343723]\|not provided [RCV001551137]	uncertain significance	12	112454613	112454613	Human		name
150425164	CV1184624	single nucleotide variant	NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)	Cardiovascular phenotype [RCV004656627]\|Noonan syndrome 1 [RCV002495890]\|RASopathy [RCV003120628]\|not provided [RCV001557643]	likely pathogenic\|uncertain significance	12	112477662	112477662	Human	8	name
150411355	CV1191330	single nucleotide variant	NM_002834.5(PTPN11):c.855T>A (p.Phe285Leu)	not provided [RCV001566530]	pathogenic	12	112477652	112477652	Human		name
150546028	CV1291628	single nucleotide variant	NM_002834.5(PTPN11):c.862A>G (p.Thr288Ala)	not specified [RCV001732823]	uncertain significance	12	112477659	112477659	Human		name
150529866	CV1293232	single nucleotide variant	NM_002834.5(PTPN11):c.460G>A (p.Gly154Ser)	not provided [RCV001756451]	uncertain significance	12	112453322	112453322	Human		name
150552910	CV1295582	single nucleotide variant	NM_002834.5(PTPN11):c.502A>T (p.Thr168Ser)	RASopathy [RCV005057569]\|not provided [RCV001768514]	uncertain significance	12	112453364	112453364	Human	1	name
150556567	CV1303264	single nucleotide variant	NM_002834.5(PTPN11):c.587A>G (p.His196Arg)	RASopathy [RCV005095028]\|not provided [RCV001774457]	uncertain significance	12	112454625	112454625	Human	1	name
151233509	CV1317843	single nucleotide variant	NM_002834.5(PTPN11):c.565T>G (p.Ser189Ala)	not provided [RCV001787610]	uncertain significance	12	112454603	112454603	Human		name
151234293	CV1318176	single nucleotide variant	NM_002834.5(PTPN11):c.860A>C (p.His287Pro)	Noonan syndrome [RCV001789834]\|RASopathy [RCV002034638]	uncertain significance	12	112477657	112477657	Human	2	name
153301481	CV1324488	single nucleotide variant	NM_002834.5(PTPN11):c.793C>G (p.Arg265Gly)	Werner syndrome [RCV002265033]\|not provided [RCV004728829]	risk factor\|uncertain significance	12	112472980	112472980	Human	1	name
151352078	CV1325059	single nucleotide variant	NM_002834.5(PTPN11):c.991C>T (p.Gln331Ter)	Metachondromatosis [RCV003128275]	likely pathogenic	12	112477914	112477914	Human	1	name
151663146	CV1330957	single nucleotide variant	NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)	Noonan syndrome 1 [RCV002478072]\|PTPN11-related disorder [RCV004536350]\|not specified [RCV001825135]	likely pathogenic\|uncertain significance	12	112450509	112450509	Human	7	name , alternate_id
151803193	CV1364686	single nucleotide variant	NM_002834.5(PTPN11):c.879C>A (p.His293Gln)	RASopathy [RCV001991141]	uncertain significance	12	112477676	112477676	Human	1	name
151821204	CV1391099	single nucleotide variant	NM_002834.5(PTPN11):c.983T>C (p.Ile328Thr)	Noonan syndrome 1 [RCV005006294]\|RASopathy [RCV001992792]\|not provided [RCV003128835]	uncertain significance	12	112477906	112477906	Human	3	name
151712089	CV1401649	single nucleotide variant	NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)	Noonan syndrome 1 [RCV002503431]\|RASopathy [RCV001964503]	pathogenic\|likely pathogenic	12	112455998	112455998	Human	3	name
151726474	CV1416063	single nucleotide variant	NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg)	Cardiovascular phenotype [RCV004656742]\|Noonan syndrome 1 [RCV002503618]\|RASopathy [RCV001945584]	uncertain significance	12	112472957	112472957	Human	8	name
151726499	CV1416080	single nucleotide variant	NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly)	Cardiovascular phenotype [RCV004044150]\|Noonan syndrome 1 [RCV002479440]\|RASopathy [RCV001945587]	uncertain significance	12	112454601	112454601	Human	8	name
151888075	CV1434046	single nucleotide variant	NM_002834.5(PTPN11):c.583G>A (p.Glu195Lys)	RASopathy [RCV002038323]	uncertain significance	12	112454621	112454621	Human	1	name
151777981	CV1449696	single nucleotide variant	NM_002834.5(PTPN11):c.967C>A (p.Pro323Thr)	Cardiovascular phenotype [RCV003303633]\|RASopathy [RCV002009470]\|not provided [RCV004763309]	uncertain significance	12	112477890	112477890	Human	1	name
151806486	CV1453449	single nucleotide variant	NM_002834.5(PTPN11):c.658C>T (p.Arg220Cys)	RASopathy [RCV001877848]	uncertain significance	12	112455965	112455965	Human	1	name
151750096	CV1457165	single nucleotide variant	NM_002834.5(PTPN11):c.947C>T (p.Thr316Ile)	RASopathy [RCV001912897]	uncertain significance	12	112477870	112477870	Human	1	name
151850361	CV1464910	single nucleotide variant	NM_002834.5(PTPN11):c.557G>C (p.Arg186Pro)	RASopathy [RCV001995881]	uncertain significance	12	112454595	112454595	Human	1	name
151716353	CV1470611	single nucleotide variant	NM_002834.5(PTPN11):c.955A>G (p.Asn319Asp)	Cardiovascular phenotype [RCV002370487]\|RASopathy [RCV001909027]	uncertain significance	12	112477878	112477878	Human	1	name
151721813	CV1491788	single nucleotide variant	NM_002834.5(PTPN11):c.479G>A (p.Ser160Asn)	Cardiovascular phenotype [RCV002335019]\|RASopathy [RCV002003785]	uncertain significance	12	112453341	112453341	Human	1	name
152156764	CV1668727	single nucleotide variant	NM_002834.5(PTPN11):c.561T>G (p.Phe187Leu)	not specified [RCV002222953]	uncertain significance	12	112454599	112454599	Human		name
152977912	CV1671270	deletion	NM_002834.5(PTPN11):c.1070del (p.Thr357fs)	Metachondromatosis [RCV002226944]	likely pathogenic	12	112477993	112477993	Human	1	name
155642767	CV1706382	single nucleotide variant	NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)	LEOPARD syndrome 1 [RCV002287238]\|RASopathy [RCV003097717]\|not provided [RCV002509826]	uncertain significance	12	112454650	112454650	Human	2	name
9692116	CV175541	single nucleotide variant	NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)	Noonan syndrome [RCV000151696]\|PTPN11-related disorder [RCV004734709]\|RASopathy [RCV000654965]\|not provided [RCV000380092]	pathogenic\|likely pathogenic	12	112454636	112454636	Human	2	name , alternate_id
155695367	CV1793732	single nucleotide variant	NM_002834.5(PTPN11):c.397G>A (p.Gly133Ser)	Cardiovascular phenotype [RCV002357735]	uncertain significance	12	112453259	112453259	Human		name
9833403	CV179446	single nucleotide variant	NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser)	Cardiovascular phenotype [RCV002336367]\|Noonan syndrome [RCV001261106]\|RASopathy [RCV000159047]\|not provided [RCV003480068]	uncertain significance	12	112453349	112453349	Human	2	name
9833404	CV179447	single nucleotide variant	NM_002834.5(PTPN11):c.661A>G (p.Ile221Val)	Noonan syndrome 1 [RCV005003506]\|RASopathy [RCV005089786]\|not provided [RCV000159048]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112455968	112455968	Human	3	name
9833696	CV179448	single nucleotide variant	NM_002834.5(PTPN11):c.701G>A (p.Ser234Asn)	not provided [RCV000159506]	uncertain significance	12	112456008	112456008	Human		name
9833405	CV179449	single nucleotide variant	NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr)	Cardiovascular phenotype [RCV002408715]\|Noonan syndrome [RCV001261017]\|RASopathy [RCV001526955]\|not provided [RCV000159051]	pathogenic\|likely pathogenic\|uncertain significance	12	112477651	112477651	Human	2	name
9833406	CV179450	single nucleotide variant	NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)	Cardio-facio-cutaneous syndrome [RCV000208167]\|Cardiovascular phenotype [RCV002372037]\|Noonan syndrome 1 [RCV002492630]\|RASopathy [RCV001850234]\|not provided [RCV000159053]\|not specified [RCV001844054]	likely benign\|uncertain significance	12	112477690	112477690	Human	9	name
9833410	CV179451	single nucleotide variant	NM_002834.5(PTPN11):c.913A>G (p.Ile305Val)	not provided [RCV000159058]	uncertain significance	12	112477710	112477710	Human		name
9833407	CV179453	single nucleotide variant	NM_002834.5(PTPN11):c.997T>A (p.Cys333Ser)	RASopathy [RCV001850235]\|not provided [RCV000159054]	uncertain significance	12	112477920	112477920	Human	1	name
155724548	CV1799443	single nucleotide variant	NM_002834.5(PTPN11):c.517C>T (p.Arg173Cys)	Cardiovascular phenotype [RCV002338436]	uncertain significance	12	112453379	112453379	Human		name
155743179	CV1806663	single nucleotide variant	NM_002834.5(PTPN11):c.557G>A (p.Arg186Gln)	Cardiovascular phenotype [RCV002344744]\|Noonan syndrome 1 [RCV005002830]\|RASopathy [RCV005096814]	uncertain significance	12	112454595	112454595	Human	8	name
155722823	CV1814576	single nucleotide variant	NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)	Cardiovascular phenotype [RCV002449795]\|RASopathy [RCV003100032]\|not provided [RCV003738229]\|not specified [RCV003491100]	uncertain significance	12	112477677	112477677	Human	1	name
155670593	CV1819216	single nucleotide variant	NM_002834.5(PTPN11):c.710C>T (p.Ala237Val)	Cardiovascular phenotype [RCV002367396]\|RASopathy [RCV003776352]	uncertain significance	12	112456017	112456017	Human	1	name
155723933	CV1820983	single nucleotide variant	NM_002834.5(PTPN11):c.898C>A (p.Pro300Thr)	Cardiovascular phenotype [RCV002449935]\|RASopathy [RCV003774146]\|not provided [RCV003156383]\|not specified [RCV004700743]	uncertain significance	12	112477695	112477695	Human	1	name
155692189	CV1821548	single nucleotide variant	NM_002834.5(PTPN11):c.950A>G (p.Lys317Arg)	Cardiovascular phenotype [RCV002374168]	uncertain significance	12	112477873	112477873	Human		name
155698987	CV1824510	single nucleotide variant	NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala)	Cardiovascular phenotype [RCV002376025]\|RASopathy [RCV003539436]	uncertain significance	12	112477686	112477686	Human	1	name
155797949	CV1860561	single nucleotide variant	NM_002834.5(PTPN11):c.323C>T (p.Thr108Ile)	not provided [RCV002467203]	uncertain significance	12	112450503	112450503	Human		name
156175697	CV1874569	single nucleotide variant	NM_002834.5(PTPN11):c.784C>T (p.Leu262Phe)	Noonan syndrome 1 [RCV004786806]\|RASopathy [RCV003041175]	likely pathogenic	12	112472971	112472971	Human	2	name
156353112	CV1923798	single nucleotide variant	NM_002834.5(PTPN11):c.500T>C (p.Val167Ala)	Noonan syndrome 1 [RCV003985114]\|RASopathy [RCV002651052]	uncertain significance	12	112453362	112453362	Human	2	name
156166501	CV1930000	single nucleotide variant	NM_002834.5(PTPN11):c.877C>T (p.His293Tyr)	Cardiovascular phenotype [RCV004985255]\|RASopathy [RCV002624569]	uncertain significance	12	112477674	112477674	Human	1	name
156450258	CV1942618	single nucleotide variant	NM_002834.5(PTPN11):c.487G>T (p.Gly163Cys)	RASopathy [RCV003122410]	uncertain significance	12	112453349	112453349	Human	1	name
10053001	CV195646	single nucleotide variant	NM_002834.5(PTPN11):c.806A>G (p.Gln269Arg)	not provided [RCV000179850]	uncertain significance	12	112472993	112472993	Human		name
156395938	CV1958945	single nucleotide variant	NM_002834.5(PTPN11):c.583G>C (p.Glu195Gln)	RASopathy [RCV002584359]	uncertain significance	12	112454621	112454621	Human	1	name
156053247	CV2006889	single nucleotide variant	NM_002834.5(PTPN11):c.653C>T (p.Thr218Met)	RASopathy [RCV002659435]	uncertain significance	12	112455960	112455960	Human	1	name
156345703	CV2051861	single nucleotide variant	NM_002834.5(PTPN11):c.554A>T (p.Glu185Val)	RASopathy [RCV002811452]	uncertain significance	12	112454592	112454592	Human	1	name
155994080	CV2063920	single nucleotide variant	NM_002834.5(PTPN11):c.972A>C (p.Lys324Asn)	RASopathy [RCV002843098]	uncertain significance	12	112477895	112477895	Human	1	name
156245861	CV2086206	single nucleotide variant	NM_002834.5(PTPN11):c.745G>T (p.Glu249Ter)	RASopathy [RCV002876768]	pathogenic	12	112456052	112456052	Human	1	name
156251792	CV2098076	single nucleotide variant	NM_002834.5(PTPN11):c.604A>T (p.Met202Leu)	RASopathy [RCV002895288]	uncertain significance	12	112454642	112454642	Human	1	name
156264711	CV2129006	single nucleotide variant	NM_002834.5(PTPN11):c.538G>A (p.Asp180Asn)	RASopathy [RCV002934010]\|not provided [RCV003154264]	uncertain significance	12	112454576	112454576	Human	1	name
156204782	CV2134929	single nucleotide variant	NM_002834.5(PTPN11):c.712G>A (p.Glu238Lys)	RASopathy [RCV002985356]\|not provided [RCV003314748]	uncertain significance	12	112456019	112456019	Human	1	name
156095875	CV2135793	single nucleotide variant	NM_002834.5(PTPN11):c.575A>C (p.Asp192Ala)	RASopathy [RCV003002018]	uncertain significance	12	112454613	112454613	Human	1	name
155934311	CV2153449	single nucleotide variant	NM_002834.5(PTPN11):c.416A>G (p.Glu139Gly)	RASopathy [RCV003013822]	likely pathogenic	12	112453278	112453278	Human	1	name
155945925	CV2154762	single nucleotide variant	NM_002834.5(PTPN11):c.641A>T (p.Gln214Leu)	RASopathy [RCV003014558]	uncertain significance	12	112454679	112454679	Human	1	name
243051014	CV2413600	single nucleotide variant	NM_002834.5(PTPN11):c.521G>A (p.Cys174Tyr)	Noonan syndrome 1 [RCV005003020]\|not provided [RCV003130351]	uncertain significance	12	112453383	112453383	Human	2	name
329381403	CV2423771	single nucleotide variant	NM_002834.5(PTPN11):c.934C>A (p.Pro312Thr)	Cardiovascular phenotype [RCV003188015]	uncertain significance	12	112477857	112477857	Human		name
329395019	CV2473004	single nucleotide variant	NM_002834.5(PTPN11):c.443T>C (p.Val148Ala)	not provided [RCV003218987]	uncertain significance	12	112453305	112453305	Human		name
329847435	CV2524271	single nucleotide variant	NM_002834.5(PTPN11):c.301C>T (p.Pro101Ser)	not provided [RCV003227163]	uncertain significance	12	112450481	112450481	Human		name
11633581	CV264502	single nucleotide variant	NM_002834.5(PTPN11):c.845T>C (p.Ile282Thr)	not provided [RCV000349409]	pathogenic	12	112473032	112473032	Human		name
11639444	CV264507	single nucleotide variant	NM_002834.5(PTPN11):c.879C>G (p.His293Gln)	Noonan syndrome and Noonan-related syndrome [RCV001813443]\|RASopathy [RCV001322233]\|not provided [RCV000320986]	uncertain significance	12	112477676	112477676	Human	1	name
11637607	CV264667	single nucleotide variant	NM_002834.5(PTPN11):c.369G>T (p.Glu123Asp)	RASopathy [RCV000810975]\|not provided [RCV000288839]	uncertain significance	12	112453231	112453231	Human	1	name
11581055	CV264670	single nucleotide variant	NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg)	Neurofibromatosis-Noonan syndrome [RCV001261108]\|RASopathy [RCV000805075]\|not provided [RCV000354323]	likely pathogenic\|uncertain significance	12	112472969	112472969	Human	2	name
329953621	CV2668505	single nucleotide variant	NM_002834.5(PTPN11):c.868G>C (p.Val290Leu)	not provided [RCV003230158]	uncertain significance	12	112477665	112477665	Human		name
401733405	CV2736845	single nucleotide variant	NM_002834.5(PTPN11):c.867G>C (p.Arg289Ser)	not provided [RCV003313607]	uncertain significance	12	112477664	112477664	Human		name
401722658	CV2737718	single nucleotide variant	NM_002834.5(PTPN11):c.760C>G (p.Leu254Val)	not provided [RCV003314890]	uncertain significance	12	112472947	112472947	Human		name
401798838	CV2742606	single nucleotide variant	NM_002834.5(PTPN11):c.692G>A (p.Arg231Gln)	not provided [RCV003325050]	uncertain significance	12	112455999	112455999	Human		name
401830695	CV2748343	single nucleotide variant	NM_002834.5(PTPN11):c.488G>A (p.Gly163Asp)	not provided [RCV003329952]	uncertain significance	12	112453350	112453350	Human		name
401873340	CV2749744	single nucleotide variant	NM_002834.5(PTPN11):c.449C>G (p.Ser150Cys)	Cardiovascular phenotype [RCV005264404]\|not provided [RCV003332873]	uncertain significance	12	112453311	112453311	Human		name
401855222	CV2764070	single nucleotide variant	NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu)	Cardiovascular phenotype [RCV003339289]\|Noonan syndrome 1 [RCV005012882]\|RASopathy [RCV003655420]	uncertain significance	12	112450482	112450482	Human	8	name
8599360	CV28365	single nucleotide variant	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	Abnormal bleeding [RCV001270562]\|Cardiovascular phenotype [RCV000621227]\|Hereditary cancer-predisposing syndrome [RCV001293867]\|LEOPARD syndrome 1 [RCV001253546]\|Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991568]\|Metachondromatosis [RCV003147284]\|Noonan s ... (more) yndrome 1 [RCV000014254]\|Noonan syndrome 1 [RCV000515324]\|Noonan syndrome 1 [RCV000576594]\|Noonan syndrome 1 [RCV000850589]\|Noonan syndrome [RCV000156977]\|Noonan syndrome and Noonan-related syndrome [RCV001813192]\|PTPN11-related disorder [RCV004541002]\|RASopathy [RCV000033516]\|not provided [RCV000077863]	pathogenic\|likely pathogenic	12	112477719	112477719	Human	14	name , alternate_id
8599361	CV28366	single nucleotide variant	NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	LEOPARD syndrome 1 [RCV001197417]\|Noonan syndrome 1 [RCV000014255]\|Noonan syndrome 1 [RCV000515421]\|Noonan syndrome 1 [RCV001027696]\|Noonan syndrome 3 [RCV000588570]\|Noonan syndrome [RCV000037669]\|Noonan syndrome and Noonan-related syndrome [RCV001813193]\|PTPN11 ... (more) -related disorder [RCV004532339]\|RASopathy [RCV000033518]\|not provided [RCV000157682]	pathogenic	12	112477720	112477720	Human	9	name , alternate_id
8599362	CV28367	single nucleotide variant	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	CBL-related disorder [RCV000492270]\|Cardiovascular phenotype [RCV000617951]\|LEOPARD syndrome 1 [RCV000055890]\|Noonan syndrome 1 [RCV000577894]\|Noonan syndrome 1 [RCV000768062]\|Noonan syndrome and Noonan-related syndrome [RCV001813194]\|Noonan syndrome with multiple lentigines [RCV000030620]\|Noonan sy ... (more) ndrome with multiple lentigines [RCV000824744]\|PTPN11-related disorder [RCV004528108]\|RASopathy [RCV000033504]\|not provided [RCV000077859]\|not specified [RCV001000775]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	12	112473023	112473023	Human	9	name , alternate_id
8599369	CV28374	single nucleotide variant	NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	Early T cell progenitor acute lymphoblastic leukemia [RCV000190417]\|LEOPARD syndrome 1 [RCV004562208]\|Metachondromatosis [RCV004562207]\|Non-immune hydrops fetalis [RCV001376066]\|Noonan syndrome 1 [RCV000014263]\|Noonan syndrome [RCV000037663]\|Noonan syndrome and Noonan-related syndrome [RCV001813200] ... (more) \|PTPN11-related disorder [RCV004532343]\|RASopathy [RCV000458650]\|not provided [RCV000077862]	pathogenic	12	112477651	112477651	Human	9	name , alternate_id
8599380	CV28387	single nucleotide variant	NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter)	Metachondromatosis [RCV000014276]\|RASopathy [RCV001205820]	pathogenic	12	112453274	112453274	Human	2	name
405717444	CV2847042	single nucleotide variant	NM_002834.5(PTPN11):c.362A>C (p.Glu121Ala)	Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991596]	likely pathogenic	12	112453224	112453224	Human	1	name
405717448	CV2847043	single nucleotide variant	NM_002834.5(PTPN11):c.518G>T (p.Arg173Leu)	Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991597]	likely pathogenic	12	112453380	112453380	Human	1	name
405158133	CV2874676	single nucleotide variant	NM_002834.5(PTPN11):c.965A>G (p.Lys322Arg)	RASopathy [RCV003539636]	uncertain significance	12	112477888	112477888	Human	1	name
405160200	CV2885596	single nucleotide variant	NM_002834.5(PTPN11):c.466G>T (p.Asp156Tyr)	RASopathy [RCV003540044]	uncertain significance	12	112453328	112453328	Human	1	name
405164983	CV2932799	single nucleotide variant	NM_002834.5(PTPN11):c.473G>T (p.Gly158Val)	RASopathy [RCV003540438]	uncertain significance	12	112453335	112453335	Human	1	name
405055110	CV2938173	single nucleotide variant	NM_002834.5(PTPN11):c.776G>A (p.Cys259Tyr)	RASopathy [RCV003655481]	uncertain significance	12	112472963	112472963	Human	1	name
405055462	CV2945400	single nucleotide variant	NM_002834.5(PTPN11):c.574G>A (p.Asp192Asn)	RASopathy [RCV003655505]	uncertain significance	12	112454612	112454612	Human	1	name
405056595	CV2958997	single nucleotide variant	NM_002834.5(PTPN11):c.956A>G (p.Asn319Ser)	RASopathy [RCV003655590]	uncertain significance	12	112477879	112477879	Human	1	name
405058513	CV2968530	single nucleotide variant	NM_002834.5(PTPN11):c.611A>T (p.Glu204Val)	RASopathy [RCV003655675]	uncertain significance	12	112454649	112454649	Human	1	name
405061976	CV3017212	single nucleotide variant	NM_002834.5(PTPN11):c.628C>A (p.Leu210Ile)	RASopathy [RCV003656018]	uncertain significance	12	112454666	112454666	Human	1	name
405050967	CV3058147	single nucleotide variant	NM_002834.5(PTPN11):c.880G>T (p.Asp294Tyr)	Cardiovascular phenotype [RCV004985567]\|RASopathy [RCV003654734]	uncertain significance	12	112477677	112477677	Human	1	name
405004422	CV3184549	single nucleotide variant	NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)	Noonan syndrome 1 [RCV003883338]	likely pathogenic	12	112472974	112472974	Human	2	name
405281109	CV3223893	single nucleotide variant	NM_002834.5(PTPN11):c.318T>A (p.Asp106Glu)	not specified [RCV003988271]	uncertain significance	12	112450498	112450498	Human		name
405688704	CV3318306	single nucleotide variant	NM_002834.5(PTPN11):c.848T>A (p.Leu283Gln)	Cardiovascular phenotype [RCV004444939]	uncertain significance	12	112473035	112473035	Human		name
405673660	CV3380076	single nucleotide variant	NM_002834.5(PTPN11):c.763C>T (p.Gln255Ter)	Metachondromatosis [RCV004515745]	likely pathogenic	12	112472950	112472950	Human	1	name
405675716	CV3386473	single nucleotide variant	NM_002834.5(PTPN11):c.772G>C (p.Glu258Gln)	Cardiovascular phenotype [RCV004516219]	uncertain significance	12	112472959	112472959	Human		name
407472438	CV3468364	single nucleotide variant	NM_002834.5(PTPN11):c.555A>C (p.Glu185Asp)	Cardiovascular phenotype [RCV004662504]	uncertain significance	12	112454593	112454593	Human		name
407472445	CV3468366	single nucleotide variant	NM_002834.5(PTPN11):c.754G>A (p.Glu252Lys)	Cardiovascular phenotype [RCV004662506]	uncertain significance	12	112456061	112456061	Human		name
407506594	CV3496160	single nucleotide variant	NM_002834.5(PTPN11):c.886G>C (p.Asp296His)	not provided [RCV004698001]	uncertain significance	12	112477683	112477683	Human		name
408378542	CV3505326	single nucleotide variant	NM_002834.5(PTPN11):c.646C>T (p.Leu216Phe)	Cardiovascular phenotype [RCV005264554]\|PTPN11-related disorder [RCV004728016]	uncertain significance	12	112455953	112455953	Human		name , alternate_id
408387207	CV3524447	single nucleotide variant	NM_002834.5(PTPN11):c.847C>G (p.Leu283Val)	not provided [RCV004768321]	uncertain significance	12	112473034	112473034	Human		name
596931360	CV3531696	single nucleotide variant	NM_002834.5(PTPN11):c.899C>T (p.Pro300Leu)	not provided [RCV004781258]	uncertain significance	12	112477696	112477696	Human		name
596921691	CV3535317	single nucleotide variant	NM_002834.5(PTPN11):c.841A>G (p.Asn281Asp)	Noonan syndrome 1 [RCV004784872]\|not provided [RCV005001476]	likely pathogenic	12	112473028	112473028	Human	1	name
12742233	CV360023	single nucleotide variant	NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg)	Cardiovascular phenotype [RCV003298421]\|Noonan syndrome [RCV001261109]\|not provided [RCV000413183]\|not specified [RCV000781774]	likely pathogenic\|uncertain significance	12	112473014	112473014	Human	1	name
12740668	CV360063	single nucleotide variant	NM_002834.5(PTPN11):c.931A>G (p.Met311Val)	Cardiovascular phenotype [RCV002318367]\|Noonan syndrome 1 [RCV002481274]\|PTPN11-related disorder [RCV004544723]\|RASopathy [RCV000701867]\|not specified [RCV000412738]	likely benign\|uncertain significance	12	112477728	112477728	Human	8	name , alternate_id
597685169	CV3707174	single nucleotide variant	NM_002834.5(PTPN11):c.467A>G (p.Asp156Gly)	Noonan syndrome 1 [RCV005006806]	uncertain significance	12	112453329	112453329	Human	2	name
597670370	CV3713698	single nucleotide variant	NM_002834.5(PTPN11):c.503C>T (p.Thr168Ile)	Noonan syndrome 1 [RCV005004820]\|not provided [RCV005410004]	uncertain significance	12	112453365	112453365	Human	2	name
597670377	CV3713699	single nucleotide variant	NM_002834.5(PTPN11):c.513G>C (p.Met171Ile)	Noonan syndrome 1 [RCV005004821]\|RASopathy [RCV005112539]	uncertain significance	12	112453375	112453375	Human	3	name
597670387	CV3713700	single nucleotide variant	NM_002834.5(PTPN11):c.529C>G (p.Leu177Val)	Noonan syndrome 1 [RCV005004822]	uncertain significance	12	112454567	112454567	Human	2	name
597685177	CV3713701	single nucleotide variant	NM_002834.5(PTPN11):c.570G>T (p.Leu190Phe)	Noonan syndrome 1 [RCV005006807]	uncertain significance	12	112454608	112454608	Human	2	name
597685189	CV3713702	single nucleotide variant	NM_002834.5(PTPN11):c.585A>C (p.Glu195Asp)	Noonan syndrome 1 [RCV005006808]	uncertain significance	12	112454623	112454623	Human	2	name
597670414	CV3713705	single nucleotide variant	NM_002834.5(PTPN11):c.709G>A (p.Ala237Thr)	Noonan syndrome 1 [RCV005004825]	uncertain significance	12	112456016	112456016	Human	2	name
597670422	CV3713706	single nucleotide variant	NM_002834.5(PTPN11):c.881A>G (p.Asp294Gly)	Noonan syndrome 1 [RCV005004826]	uncertain significance	12	112477678	112477678	Human	2	name
597884669	CV3745476	single nucleotide variant	NM_002834.5(PTPN11):c.779A>G (p.Lys260Arg)	Cardiovascular phenotype [RCV005264586]\|RASopathy [RCV005070312]	uncertain significance	12	112472966	112472966	Human	1	name
597917943	CV3767942	single nucleotide variant	NM_002834.5(PTPN11):c.349C>G (p.Leu117Val)	RASopathy [RCV005114743]	uncertain significance	12	112453211	112453211	Human	1	name
597917955	CV3767944	single nucleotide variant	NM_002834.5(PTPN11):c.451G>C (p.Val151Leu)	RASopathy [RCV005114745]	uncertain significance	12	112453313	112453313	Human	1	name
597917960	CV3767945	single nucleotide variant	NM_002834.5(PTPN11):c.530T>G (p.Leu177Arg)	RASopathy [RCV005114746]	uncertain significance	12	112454568	112454568	Human	1	name
597917970	CV3767947	single nucleotide variant	NM_002834.5(PTPN11):c.589T>C (p.Tyr197His)	RASopathy [RCV005114748]	uncertain significance	12	112454627	112454627	Human	1	name
597917976	CV3767948	single nucleotide variant	NM_002834.5(PTPN11):c.606G>A (p.Met202Ile)	RASopathy [RCV005114749]	uncertain significance	12	112454644	112454644	Human	1	name
597911179	CV3778226	single nucleotide variant	NM_002834.5(PTPN11):c.811C>T (p.Gln271Ter)	RASopathy [RCV005128765]	pathogenic	12	112472998	112472998	Human	1	name
597921101	CV3811829	single nucleotide variant	NM_002834.5(PTPN11):c.574G>T (p.Asp192Tyr)	RASopathy [RCV005155660]	uncertain significance	12	112454612	112454612	Human	1	name
598125580	CV3885813	single nucleotide variant	NM_002834.5(PTPN11):c.344G>A (p.Gly115Glu)	not provided [RCV005241616]	uncertain significance	12	112453206	112453206	Human		name
598181362	CV3904792	single nucleotide variant	NM_002834.5(PTPN11):c.572C>G (p.Thr191Arg)	Cardiovascular phenotype [RCV005265186]	uncertain significance	12	112454610	112454610	Human		name
598181406	CV3904806	single nucleotide variant	NM_002834.5(PTPN11):c.348T>G (p.His116Gln)	Cardiovascular phenotype [RCV005265200]	uncertain significance	12	112453210	112453210	Human		name
598181424	CV3904812	single nucleotide variant	NM_002834.5(PTPN11):c.805C>G (p.Gln269Glu)	Cardiovascular phenotype [RCV005265206]	uncertain significance	12	112472992	112472992	Human		name
598181427	CV3904813	single nucleotide variant	NM_002834.5(PTPN11):c.931A>T (p.Met311Leu)	Cardiovascular phenotype [RCV005265207]	uncertain significance	12	112477728	112477728	Human		name
598181441	CV3904817	single nucleotide variant	NM_002834.5(PTPN11):c.968C>T (p.Pro323Leu)	Cardiovascular phenotype [RCV005265211]	uncertain significance	12	112477891	112477891	Human		name
598181459	CV3904822	single nucleotide variant	NM_002834.5(PTPN11):c.477G>T (p.Glu159Asp)	Cardiovascular phenotype [RCV005265216]	uncertain significance	12	112453339	112453339	Human		name
598181460	CV3904823	single nucleotide variant	NM_002834.5(PTPN11):c.815A>G (p.Glu272Gly)	Cardiovascular phenotype [RCV005265217]	uncertain significance	12	112473002	112473002	Human		name
598181475	CV3904829	single nucleotide variant	NM_002834.5(PTPN11):c.718A>G (p.Thr240Ala)	Cardiovascular phenotype [RCV005265223]	uncertain significance	12	112456025	112456025	Human		name
12889127	CV398831	single nucleotide variant	NM_002834.5(PTPN11):c.418A>T (p.Ser140Cys)	RASopathy [RCV000472224]	uncertain significance	12	112453280	112453280	Human	1	name
8602469	CV40229	deletion	NM_002834.5(PTPN11):c.1315del (p.Leu439fs)	Metachondromatosis [RCV000024259]	pathogenic	12	112486564	112486564	Human	1	name
13480175	CV444914	single nucleotide variant	NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala)	Cardiovascular phenotype [RCV003302760]\|Noonan syndrome 1 [RCV003444566]\|RASopathy [RCV001245865]\|not provided [RCV000521157]	uncertain significance	12	112453323	112453323	Human	3	name
13480335	CV444915	single nucleotide variant	NM_002834.5(PTPN11):c.518G>C (p.Arg173Pro)	not provided [RCV000521204]	likely pathogenic	12	112453380	112453380	Human		name
13485074	CV444916	single nucleotide variant	NM_002834.5(PTPN11):c.562G>C (p.Asp188His)	not provided [RCV000522506]	uncertain significance	12	112454600	112454600	Human		name
13506313	CV481135	single nucleotide variant	NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala)	LEOPARD syndrome 1 [RCV000577992]\|Metachondromatosis [RCV000578050]\|Noonan syndrome 1 [RCV000578106]	likely pathogenic\|uncertain significance	12	112453335	112453335	Human	3	name
13521745	CV487552	single nucleotide variant	NM_002834.5(PTPN11):c.868G>A (p.Val290Ile)	not provided [RCV000590078]	uncertain significance	12	112477665	112477665	Human		name
13521509	CV487578	single nucleotide variant	NM_002834.5(PTPN11):c.652A>T (p.Thr218Ser)	RASopathy [RCV001860131]\|not provided [RCV000589400]	uncertain significance	12	112455959	112455959	Human	1	name
8604476	CV48976	single nucleotide variant	NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)	Noonan syndrome 1 [RCV001261998]\|Noonan syndrome [RCV000157021]\|Noonan syndrome and Noonan-related syndrome [RCV001813247]\|RASopathy [RCV000033483]\|not provided [RCV000212893]	pathogenic\|likely pathogenic	12	112450497	112450497	Human	3	name
8604477	CV48977	single nucleotide variant	NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)	Cardiovascular phenotype [RCV004984651]\|Noonan syndrome 1 [RCV004771457]\|Noonan syndrome 3 [RCV000589214]\|Noonan syndrome [RCV000037645]\|Noonan syndrome and Noonan-related syndrome [RCV001813248]\|RASopathy [RCV000815390]\|not provided [RCV000033484]	pathogenic\|likely pathogenic	12	112450508	112450508	Human	4	name
8604478	CV48978	single nucleotide variant	NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)	LEOPARD syndrome 1 [RCV003333004]\|Metachondromatosis [RCV003333003]\|Noonan syndrome 1 [RCV001089572]\|RASopathy [RCV001221785]\|not provided [RCV000033485]\|not specified [RCV001002539]	pathogenic\|likely pathogenic	12	112450509	112450509	Human	4	name
8604481	CV48982	single nucleotide variant	NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)	Inborn genetic diseases [RCV001267275]\|Juvenile myelomonocytic leukemia [RCV000824742]\|Noonan syndrome 1 [RCV000995621]\|RASopathy [RCV000033490]\|not provided [RCV000212894]	pathogenic	12	112453279	112453279	Human	5	name
8604482	CV48983	single nucleotide variant	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	Cardiovascular phenotype [RCV000617179]\|Hypertrophic cardiomyopathy [RCV000626830]\|Juvenile myelomonocytic leukemia [RCV000824741]\|LEOPARD syndrome 1 [RCV003147307]\|Metachondromatosis [RCV003147306]\|Noonan syndrome 1 [RCV000357736]\|Noonan syndrome 1 [RCV000515221]\|Noonan syndrome 3 [RCV000585988]\|No ... (more) onan syndrome [RCV000521568]\|Noonan syndrome and Noonan-related syndrome [RCV001813249]\|PTPN11-related disorder [RCV004528153]\|Pectus excavatum [RCV001003604]\|RASopathy [RCV000033491]\|not provided [RCV000077858]	pathogenic\|likely pathogenic	12	112453279	112453279	Human	21	name , alternate_id
8604483	CV48984	single nucleotide variant	NM_002834.5(PTPN11):c.455G>A (p.Arg152His)	Cardiovascular phenotype [RCV003352752]\|Metachondromatosis [RCV000988913]\|Noonan syndrome 1 [RCV002477046]\|Noonan syndrome [RCV001261105]\|RASopathy [RCV001852675]\|not provided [RCV000680299]\|not specified [RCV000121913]	likely pathogenic\|uncertain significance\|not provided	12	112453317	112453317	Human	8	name
8604486	CV48988	single nucleotide variant	NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)	Cardiovascular phenotype [RCV002399353]\|Noonan syndrome 1 [RCV000585640]\|Noonan syndrome with multiple lentigines [RCV000824743]\|RASopathy [RCV000033497]\|not provided [RCV000157681]\|not specified [RCV000506790]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	12	112472954	112472954	Human	4	name
8604488	CV48990	single nucleotide variant	NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)	Noonan syndrome 1 [RCV002496500]\|Noonan syndrome [RCV000037657]\|RASopathy [RCV000522926]\|not provided [RCV000157701]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	12	112472968	112472968	Human	4	name
8604489	CV48991	single nucleotide variant	NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg)	Noonan syndrome 1 [RCV000106324]\|RASopathy [RCV000526885]	pathogenic\|not provided	12	112472972	112472972	Human	2	name
8604490	CV48992	single nucleotide variant	NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	Cardiovascular phenotype [RCV002415447]\|LEOPARD syndrome 1 [RCV001253554]\|Metachondromatosis [RCV000988915]\|Noonan syndrome 1 [RCV000234910]\|Noonan syndrome 1 [RCV001536068]\|Noonan syndrome [RCV000037658]\|PTPN11-related disorder [RCV000723292]\|RASopathy [RCV0004 ... (more) 77501]\|not provided [RCV000153788]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112472981	112472981	Human	8	name , alternate_id
8604491	CV48993	single nucleotide variant	NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)	Cardiovascular phenotype [RCV004658964]\|LEOPARD syndrome 1 [RCV003147309]\|Metachondromatosis [RCV003147308]\|Noonan syndrome 1 [RCV001729355]\|Noonan syndrome [RCV000037660]\|Noonan syndrome with multiple lentigines [RCV004700300]\|PTPN11-related disorder [RCV004545 ... (more) 735]\|RASopathy [RCV000703823]\|not provided [RCV000033502]	pathogenic\|likely pathogenic	12	112472989	112472989	Human	6	name , alternate_id
8604492	CV48994	single nucleotide variant	NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr)	Cardiovascular phenotype [RCV003298038]\|LEOPARD syndrome 1 [RCV001109483]\|Metachondromatosis [RCV001109482]\|Noonan syndrome 1 [RCV001111779]\|RASopathy [RCV001294974]\|not specified [RCV001264525]	benign\|uncertain significance	12	112473011	112473011	Human	6	name
8604493	CV48995	single nucleotide variant	NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	Cardiovascular phenotype [RCV002444453]\|Neurodevelopmental abnormality [RCV001731328]\|Noonan syndrome 1 [RCV001283770]\|Noonan syndrome 1 [RCV002054539]\|Noonan syndrome 1 [RCV003153317]\|Noonan syndrome [RCV002273940]\|Noonan syndrome and Noonan-related syndrome [RCV001813250]\|Noonan syndrome with mult ... (more) iple lentigines [RCV000824745]\|PTPN11-related disorder [RCV003387505]\|RASopathy [RCV000033505]\|not provided [RCV000077860]	pathogenic	12	112473031	112473031	Human	10	name , alternate_id
8604494	CV48996	single nucleotide variant	NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)	Cardiovascular phenotype [RCV002444454]\|Noonan syndrome 1 [RCV001027860]\|Noonan syndrome [RCV000037661]\|PTPN11-related disorder [RCV004734538]\|RASopathy [RCV001852676]\|not provided [RCV000033506]	pathogenic\|likely pathogenic	12	112473033	112473033	Human	3	name , alternate_id
8604495	CV48997	single nucleotide variant	NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)	Noonan syndrome 1 [RCV001027842]\|Noonan syndrome 1 [RCV003224796]\|Noonan syndrome 1 [RCV004593977]\|PTPN11-related disorder [RCV004532489]\|RASopathy [RCV003539766]\|not provided [RCV002508779]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112473040	112473040	Human	8	name , alternate_id
8604496	CV48998	single nucleotide variant	NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	Cardiovascular phenotype [RCV004018710]\|LEOPARD syndrome 1 [RCV002288529]\|Metachondromatosis [RCV004562222]\|Noonan syndrome 1 [RCV000762885]\|Noonan syndrome 1 [RCV000856809]\|Noonan syndrome 3 [RCV000586058]\|Noonan syndrome [RCV000037662]\|PTPN11-related disorder ... (more) [RCV004532490]\|RASopathy [RCV000231840]\|not provided [RCV000077861]	pathogenic\|likely pathogenic	12	112473040	112473040	Human	9	name , alternate_id
8604500	CV49003	single nucleotide variant	NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys)	Noonan syndrome [RCV000037664]\|RASopathy [RCV000033513]\|not provided [RCV000212895]	pathogenic\|likely pathogenic	12	112477651	112477651	Human	2	name
8604502	CV49005	single nucleotide variant	NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)	Cardiovascular phenotype [RCV002371807]\|LEOPARD syndrome 1 [RCV004795947]\|Noonan syndrome 1 [RCV002482942]\|Noonan syndrome 1 [RCV004668747]\|Noonan syndrome [RCV000037668]\|Noonan syndrome and Noonan-related syndrome [RCV001813251]\|PTPN11-related disorder [RCV0045 ... (more) 32491]\|RASopathy [RCV001193110]\|See cases [RCV002287350]\|not provided [RCV000033517]	pathogenic\|likely pathogenic	12	112477720	112477720	Human	8	name , alternate_id
8604503	CV49006	single nucleotide variant	NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)	Cardiovascular phenotype [RCV000252493]\|LEOPARD syndrome 1 [RCV001111780]\|Metachondromatosis [RCV000988916]\|Noonan syndrome 1 [RCV001111781]\|Noonan syndrome [RCV000761037]\|Noonan syndrome and Noonan-related syndrome [RCV001813252]\|PTPN11-related disorder [RCV004 ... (more) 541058]\|RASopathy [RCV000470114]\|not provided [RCV000589645]\|not specified [RCV000151704]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112477722	112477722	Human	6	name , alternate_id
13515467	CV494971	single nucleotide variant	NM_002834.5(PTPN11):c.348T>A (p.His116Gln)	Cardiovascular phenotype [RCV005260238]\|not provided [RCV004701697]\|not specified [RCV000594318]	likely pathogenic\|uncertain significance	12	112453210	112453210	Human		name
13518399	CV494972	single nucleotide variant	NM_002834.5(PTPN11):c.652A>G (p.Thr218Ala)	Inborn genetic diseases [RCV001267343]\|not provided [RCV005409682]\|not specified [RCV000597366]	uncertain significance	12	112455959	112455959	Human	1	name
13528084	CV513319	single nucleotide variant	NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser)	Noonan syndrome [RCV000625873]	likely pathogenic	12	112477882	112477882	Human	1	name
13705757	CV536828	single nucleotide variant	NM_002834.5(PTPN11):c.683G>T (p.Ser228Ile)	Cardiovascular phenotype [RCV005260317]\|Noonan syndrome 1 [RCV005010640]\|RASopathy [RCV005091893]\|not provided [RCV000658340]	uncertain significance	12	112455990	112455990	Human	8	name
8607428	CV53774	single nucleotide variant	NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)	Cardiovascular phenotype [RCV000621552]\|Noonan syndrome 1 [RCV002496598]\|Noonan syndrome [RCV000678902]\|Noonan syndrome and Noonan-related syndrome [RCV001813328]\|PTPN11-related disorder [RCV004534799]\|RASopathy [RCV000654924]\|not provided [RCV000680297]\|not spe ... (more) cified [RCV000037646]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	12	112453254	112453254	Human	8	name , alternate_id
8607430	CV53776	single nucleotide variant	NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)	Cardiovascular phenotype [RCV002345295]\|Noonan syndrome and Noonan-related syndrome [RCV001813330]\|RASopathy [RCV001852783]\|not provided [RCV001569121]\|not specified [RCV000037651]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112454594	112454594	Human	1	name
8607431	CV53777	single nucleotide variant	NM_002834.5(PTPN11):c.661A>T (p.Ile221Leu)	not specified [RCV000037653]	uncertain significance	12	112455968	112455968	Human		name
8607434	CV53780	single nucleotide variant	NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp)	Noonan syndrome [RCV000037656]\|not provided [RCV000159049]\|not specified [RCV001002142]	pathogenic\|likely pathogenic	12	112472961	112472961	Human	1	name
8607435	CV53781	single nucleotide variant	NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	Cardiovascular phenotype [RCV002415470]\|LEOPARD syndrome 1 [RCV001330780]\|Noonan syndrome 1 [RCV002504894]\|Noonan syndrome 1 [RCV003338391]\|Noonan syndrome [RCV000037659]\|RASopathy [RCV000587886]\|not provided [RCV000159050]	pathogenic\|likely pathogenic	12	112472989	112472989	Human	8	name
8607436	CV53782	single nucleotide variant	NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)	Noonan syndrome 1 [RCV002288537]\|Noonan syndrome 3 [RCV000587757]\|Noonan syndrome [RCV000037665]\|RASopathy [RCV000687570]\|not provided [RCV000159052]	pathogenic	12	112477652	112477652	Human	4	name
8607437	CV53783	single nucleotide variant	NM_002834.5(PTPN11):c.858T>A (p.Asp286Glu)	not specified [RCV000037666]	likely pathogenic\|uncertain significance	12	112477655	112477655	Human		name
13797327	CV552670	single nucleotide variant	NM_002834.5(PTPN11):c.330A>C (p.Glu110Asp)	not provided [RCV000681127]	likely pathogenic\|uncertain significance	12	112450510	112450510	Human		name
13797081	CV552672	single nucleotide variant	NM_002834.5(PTPN11):c.346C>A (p.His116Asn)	not provided [RCV000680951]	uncertain significance	12	112453208	112453208	Human		name
13797427	CV552673	single nucleotide variant	NM_002834.5(PTPN11):c.440T>G (p.Phe147Cys)	Cardiovascular phenotype [RCV005260321]\|RASopathy [RCV001861894]\|not provided [RCV000681211]	uncertain significance	12	112453302	112453302	Human	1	name
13796844	CV552676	single nucleotide variant	NM_002834.5(PTPN11):c.766C>A (p.Gln256Lys)	RASopathy [RCV002531416]\|not provided [RCV000680808]	pathogenic\|likely pathogenic	12	112472953	112472953	Human	1	name
13797343	CV552677	single nucleotide variant	NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys)	Cardiovascular phenotype [RCV002406523]\|Noonan syndrome 1 [RCV002493128]\|RASopathy [RCV003768042]\|not provided [RCV000681136]	uncertain significance	12	112472975	112472975	Human	8	name
13797318	CV552678	single nucleotide variant	NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu)	Cardiovascular phenotype [RCV002422462]\|PTPN11-related disorder [RCV004527734]\|RASopathy [RCV002544702]\|not provided [RCV000681121]	likely pathogenic\|uncertain significance	12	112472981	112472981	Human	1	name , alternate_id
13822465	CV571258	single nucleotide variant	NM_002834.5(PTPN11):c.782T>A (p.Leu261His)	RASopathy [RCV000697357]	pathogenic\|likely pathogenic	12	112472969	112472969	Human	1	name
14396241	CV612014	single nucleotide variant	NM_002834.5(PTPN11):c.940T>C (p.Phe314Leu)	Cardiovascular phenotype [RCV005260382]\|Noonan syndrome [RCV000761000]	uncertain significance	12	112477863	112477863	Human	1	name
14691010	CV621369	single nucleotide variant	NM_002834.5(PTPN11):c.562G>A (p.Asp188Asn)	not specified [RCV000781777]	uncertain significance	12	112454600	112454600	Human		name
14698307	CV624453	single nucleotide variant	NM_002834.5(PTPN11):c.853T>A (p.Phe285Ile)	not provided [RCV000788225]	pathogenic	12	112473040	112473040	Human		name
8621822	CV76574	single nucleotide variant	NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser)	LEOPARD syndrome 1 [RCV000055889]\|RASopathy [RCV001064303]	pathogenic\|not provided	12	112473023	112473023	Human	2	name
15173049	CV784275	single nucleotide variant	NM_002834.5(PTPN11):c.932T>C (p.Met311Thr)	RASopathy [RCV002548437]	likely benign	12	112477729	112477729	Human	1	name
25314996	CV818296	deletion	NM_002834.5(PTPN11):c.1339del (p.Glu447fs)	Metachondromatosis [RCV001029946]	pathogenic	12	112486588	112486588	Human	1	name
26888478	CV839323	single nucleotide variant	NM_002834.5(PTPN11):c.502A>G (p.Thr168Ala)	RASopathy [RCV001067112]\|not provided [RCV001545213]	likely pathogenic\|uncertain significance	12	112453364	112453364	Human	1	name
26922179	CV839324	single nucleotide variant	NM_002834.5(PTPN11):c.518G>A (p.Arg173His)	Cardiovascular phenotype [RCV005262223]\|Noonan syndrome 1 [RCV005051851]\|RASopathy [RCV001061667]\|not provided [RCV001547358]	uncertain significance	12	112453380	112453380	Human	3	name
34896357	CV917102	single nucleotide variant	NM_002834.5(PTPN11):c.971A>G (p.Lys324Arg)	RASopathy [RCV005094029]\|not specified [RCV001193712]	uncertain significance	12	112477894	112477894	Human	1	name
38465364	CV947790	duplication	NM_002834.5(PTPN11):c.1147dup (p.Met383fs)	RASopathy [RCV001238086]	pathogenic	12	112482127	112482128	Human	1	name
38466955	CV956748	single nucleotide variant	NM_002834.5(PTPN11):c.569T>A (p.Leu190Ter)	RASopathy [RCV001241165]	pathogenic	12	112454607	112454607	Human	1	name
40814115	CV966979	single nucleotide variant	NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)	Autism spectrum disorder [RCV001257614]\|Noonan syndrome [RCV001261101]	likely pathogenic	12	112450497	112450497	Human	3	name
40814701	CV969670	single nucleotide variant	NM_002834.5(PTPN11):c.325T>C (p.Ser109Pro)	Noonan syndrome [RCV001261102]\|Noonan syndrome and Noonan-related syndrome [RCV001813586]	uncertain significance	12	112450505	112450505	Human	1	name
40814702	CV969671	single nucleotide variant	NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)	Noonan syndrome [RCV001261103]	uncertain significance	12	112453249	112453249	Human	1	name
40814704	CV969672	single nucleotide variant	NM_002834.5(PTPN11):c.395A>C (p.His132Pro)	Noonan syndrome [RCV001261104]	uncertain significance	12	112453257	112453257	Human	1	name
40814706	CV969673	single nucleotide variant	NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)	LEOPARD syndrome 1 [RCV002246254]\|Noonan syndrome 1 [RCV003152757]\|Noonan syndrome [RCV001261107]\|Proportionate short stature [RCV001779145]	pathogenic\|likely pathogenic\|uncertain significance	12	112455970	112455970	Human	5	name
40815903	CV970539	single nucleotide variant	NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)	Cardiovascular phenotype [RCV004987013]\|Noonan syndrome 1 [RCV001262011]\|RASopathy [RCV005094247]	pathogenic\|likely pathogenic\|uncertain significance	12	112472959	112472959	Human	3	name
8688320	CV138850	single nucleotide variant	NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)	Cardiovascular phenotype [RCV003298143]\|Noonan syndrome 1 [RCV002483228]\|Noonan syndrome 1 [RCV004783747]\|Noonan syndrome and Noonan-related syndrome [RCV001813380]\|RASopathy [RCV001854671]\|not provided [RCV004017410]\|not specified [RCV000121910]	uncertain significance\|not provided	12	112489170	112489170	Human	8	name
152156861	CV1668787	single nucleotide variant	NM_002834.5(PTPN11):c.1660A>G (p.Ser554Gly)	not specified [RCV002223013]	uncertain significance	12	112502204	112502204	Human		name
152039816	CV1669634	single nucleotide variant	NM_002834.5(PTPN11):c.1459G>A (p.Asp487Asn)	not provided [RCV002224535]	uncertain significance	12	112489035	112489035	Human		name
153000234	CV1682926	single nucleotide variant	NM_002834.5(PTPN11):c.1742A>C (p.Glu581Ala)	Noonan syndrome 1 [RCV005008489]\|RASopathy [RCV003655350]\|See cases [RCV002252936]	uncertain significance	12	112504724	112504724	Human	3	name
153301522	CV1685777	single nucleotide variant	NM_002834.5(PTPN11):c.1483C>A (p.Gln495Lys)	not provided [RCV002260754]	uncertain significance	12	112489059	112489059	Human		name
153347592	CV1692108	single nucleotide variant	NM_002834.5(PTPN11):c.1480A>G (p.Ile494Val)	not provided [RCV002273593]	uncertain significance	12	112489056	112489056	Human		name
155642577	CV1707493	single nucleotide variant	NM_002834.5(PTPN11):c.1495T>C (p.Ser499Pro)	Noonan syndrome 1 [RCV002288423]	likely pathogenic	12	112489071	112489071	Human	1	name
9687225	CV172138	single nucleotide variant	NM_002834.5(PTPN11):c.1508G>C (p.Gly503Ala)	RASopathy [RCV000149849]	pathogenic	12	112489084	112489084	Human	1	name
9689128	CV175397	single nucleotide variant	NM_002834.5(PTPN11):c.1374C>A (p.His458Gln)	Noonan syndrome 1 [RCV004593994]\|not specified [RCV000154559]	uncertain significance	12	112486624	112486624	Human	1	name
9689109	CV175398	single nucleotide variant	NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)	Cardiovascular phenotype [RCV002399540]\|Noonan syndrome 1 [RCV000515184]\|RASopathy [RCV000690056]\|not provided [RCV000680301]\|not specified [RCV000154538]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112502226	112502226	Human	8	name
155703901	CV1771244	single nucleotide variant	NM_002834.5(PTPN11):c.1078G>A (p.Val360Met)	RASopathy [RCV002295745]	uncertain significance	12	112478001	112478001	Human	1	name
155711648	CV1775861	single nucleotide variant	NM_002834.5(PTPN11):c.1303G>T (p.Val435Leu)	Cardiovascular phenotype [RCV004047666]\|RASopathy [RCV002296225]	uncertain significance	12	112486553	112486553	Human	1	name
155690821	CV1777960	single nucleotide variant	NM_002834.5(PTPN11):c.1331A>G (p.His444Arg)	RASopathy [RCV002299281]\|not provided [RCV004729150]	uncertain significance	12	112486581	112486581	Human	1	name
9693656	CV178356	single nucleotide variant	NM_002834.5(PTPN11):c.1277A>C (p.His426Pro)	Noonan syndrome [RCV000157022]	uncertain significance	12	112486527	112486527	Human	1	name
9833697	CV179454	single nucleotide variant	NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln)	Cardiovascular phenotype [RCV002381524]\|RASopathy [RCV000519427]\|not provided [RCV000159507]	benign\|likely benign\|uncertain significance	12	112477951	112477951	Human	1	name
9833408	CV179455	single nucleotide variant	NM_002834.5(PTPN11):c.1460A>G (p.Asp487Gly)	not provided [RCV000159055]	likely pathogenic\|uncertain significance	12	112489036	112489036	Human		name
9833409	CV179456	single nucleotide variant	NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala)	Astrocytic tumor [RCV003764999]\|Noonan syndrome 1 [RCV001002766]\|Noonan syndrome 1 [RCV005008065]\|Noonan syndrome [RCV001261020]\|Noonan syndrome and Noonan-related syndrome [RCV001813411]\|RASopathy [RCV002515083]\|not provided [RCV000159056]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	12	112489047	112489047	Human	9	name
155719542	CV1830589	single nucleotide variant	NM_002834.5(PTPN11):c.1566T>G (p.Ile522Met)	Cardiovascular phenotype [RCV002405545]	uncertain significance	12	112489142	112489142	Human		name
155745529	CV1831345	single nucleotide variant	NM_002834.5(PTPN11):c.1720G>A (p.Glu574Lys)	Cardiovascular phenotype [RCV002414791]	uncertain significance	12	112504702	112504702	Human		name
155670616	CV1832389	single nucleotide variant	NM_002834.5(PTPN11):c.1320G>C (p.Glu440Asp)	Cardiovascular phenotype [RCV002385687]	uncertain significance	12	112486570	112486570	Human		name
155708953	CV1833674	single nucleotide variant	NM_002834.5(PTPN11):c.1552G>T (p.Val518Phe)	Cardiovascular phenotype [RCV002403401]\|RASopathy [RCV005097589]	uncertain significance	12	112489128	112489128	Human	1	name
155702264	CV1838271	single nucleotide variant	NM_002834.5(PTPN11):c.1763A>G (p.Gln588Arg)	Cardiovascular phenotype [RCV002401692]\|RASopathy [RCV003097222]	uncertain significance	12	112504745	112504745	Human	1	name
155795670	CV1861436	single nucleotide variant	NM_002834.5(PTPN11):c.1648G>A (p.Ala550Thr)	Noonan syndrome 1 [RCV005002842]\|RASopathy [RCV003775501]\|not provided [RCV002469718]	uncertain significance	12	112502192	112502192	Human	3	name
155798516	CV1862041	single nucleotide variant	NM_002834.5(PTPN11):c.1493G>A (p.Arg498Gln)	Noonan syndrome 1 [RCV002471444]\|not provided [RCV005051976]	likely pathogenic	12	112489069	112489069	Human	1	name
155799259	CV1862428	single nucleotide variant	NM_002834.5(PTPN11):c.1205A>C (p.Lys402Thr)	Noonan syndrome 1 [RCV002471834]\|not provided [RCV005235662]	uncertain significance	12	112482186	112482186	Human	1	name
156165282	CV1866856	single nucleotide variant	NM_002834.5(PTPN11):c.1204A>G (p.Lys402Glu)	not provided [RCV002508408]	uncertain significance	12	112482185	112482185	Human		name
156142720	CV1898664	single nucleotide variant	NM_002834.5(PTPN11):c.1358G>A (p.Gly453Glu)	RASopathy [RCV003082264]	uncertain significance	12	112486608	112486608	Human	1	name
156202500	CV1916867	single nucleotide variant	NM_002834.5(PTPN11):c.1727G>A (p.Ser576Asn)	RASopathy [RCV002595755]	uncertain significance	12	112504709	112504709	Human	1	name
156107487	CV2008453	single nucleotide variant	NM_002834.5(PTPN11):c.1432A>G (p.Ile478Val)	Cardiovascular phenotype [RCV004983088]\|RASopathy [RCV002695536]	uncertain significance	12	112488495	112488495	Human	1	name
156157079	CV2049351	single nucleotide variant	NM_002834.5(PTPN11):c.1177G>A (p.Ala393Thr)	RASopathy [RCV002801491]	uncertain significance	12	112482158	112482158	Human	1	name
156192696	CV2099063	single nucleotide variant	NM_002834.5(PTPN11):c.1198G>A (p.Glu400Lys)	RASopathy [RCV002917501]\|not provided [RCV003151904]	uncertain significance	12	112482179	112482179	Human	1	name
156046991	CV2144232	single nucleotide variant	NM_002834.5(PTPN11):c.1464T>G (p.Ile488Met)	RASopathy [RCV002999741]	uncertain significance	12	112489040	112489040	Human	1	name
155915675	CV2149842	single nucleotide variant	NM_002834.5(PTPN11):c.1183G>T (p.Asp395Tyr)	RASopathy [RCV003012579]	uncertain significance	12	112482164	112482164	Human	1	name
155915689	CV2149843	single nucleotide variant	NM_002834.5(PTPN11):c.1186T>C (p.Tyr396His)	RASopathy [RCV003012580]	uncertain significance	12	112482167	112482167	Human	1	name
243051810	CV2404123	single nucleotide variant	NM_002834.5(PTPN11):c.1444A>C (p.Lys482Gln)	RASopathy [RCV003655403]\|not provided [RCV003129149]	uncertain significance	12	112488507	112488507	Human	1	name
243051019	CV2413601	single nucleotide variant	NM_002834.5(PTPN11):c.1241C>T (p.Thr414Met)	Cardiovascular phenotype [RCV004985306]\|RASopathy [RCV003539470]\|not provided [RCV003130352]	uncertain significance	12	112486491	112486491	Human	1	name
329381400	CV2423769	single nucleotide variant	NM_002834.5(PTPN11):c.1540A>G (p.Ile514Val)	Cardiovascular phenotype [RCV003188013]	uncertain significance	12	112489116	112489116	Human		name
329848800	CV2523548	single nucleotide variant	NM_002834.5(PTPN11):c.1553T>G (p.Val518Gly)	RASopathy [RCV005102420]\|not provided [RCV003225562]	uncertain significance	12	112489129	112489129	Human	1	name
401730558	CV2729575	single nucleotide variant	NM_002834.5(PTPN11):c.1546A>G (p.Met516Val)	Cardiovascular phenotype [RCV003297536]\|not provided [RCV003313327]	uncertain significance	12	112489122	112489122	Human		name
401740184	CV2738684	single nucleotide variant	NM_002834.5(PTPN11):c.1607A>G (p.Lys536Arg)	not provided [RCV003318078]	uncertain significance	12	112502151	112502151	Human		name
401796258	CV2740464	single nucleotide variant	NM_002834.5(PTPN11):c.1189A>G (p.Thr397Ala)	not provided [RCV003321134]	uncertain significance	12	112482170	112482170	Human		name
401830164	CV2744161	single nucleotide variant	NM_002834.5(PTPN11):c.1095T>A (p.Ser365Arg)	Noonan syndrome 1 [RCV003327358]	uncertain significance	12	112482076	112482076	Human	1	name
401864098	CV2764071	single nucleotide variant	NM_002834.5(PTPN11):c.1676C>T (p.Pro559Leu)	Cardiovascular phenotype [RCV003344188]\|RASopathy [RCV003655421]	uncertain significance	12	112502220	112502220	Human	1	name
401855225	CV2764073	single nucleotide variant	NM_002834.5(PTPN11):c.1495T>G (p.Ser499Ala)	Cardiovascular phenotype [RCV003339291]	uncertain significance	12	112489071	112489071	Human		name
401935073	CV2799815	single nucleotide variant	NM_002834.5(PTPN11):c.1411G>T (p.Val471Leu)	PTPN11-related disorder [RCV004536722]	uncertain significance	12	112488474	112488474	Human		name , trait , alternate_id
401912951	CV2800792	single nucleotide variant	NM_002834.5(PTPN11):c.1643C>G (p.Ser548Cys)	PTPN11-related disorder [RCV004529824]	uncertain significance	12	112502187	112502187	Human		name , trait , alternate_id
8599365	CV28370	single nucleotide variant	NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	Cardiovascular phenotype [RCV002390104]\|Hypertrophic cardiomyopathy [RCV000853462]\|LEOPARD syndrome 1 [RCV000055884]\|Noonan syndrome 1 [RCV000106323]\|Noonan syndrome 1 [RCV000515406]\|Noonan syndrome [RCV000157014]\|Noonan syndrome and Noonan-related syndrome [RCV001813197]\|Noonan syndrome with multip ... (more) le lentigines [RCV000208002]\|PTPN11-related disorder [RCV000723326]\|RASopathy [RCV000033533]\|not provided [RCV000077851]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	12	112488466	112488466	Human	10	name , alternate_id
8599366	CV28371	single nucleotide variant	NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)	Cardiovascular phenotype [RCV004984639]\|Juvenile myelomonocytic leukemia [RCV000033543]\|Noonan syndrome 1 [RCV000014260]\|Noonan syndrome 1 [RCV002490364]\|Noonan syndrome [RCV000156995]\|PTPN11-related disorder [RCV004532342]\|RASopathy [RCV001851849]\|not provided ... (more) [RCV000212897]	pathogenic	12	112489080	112489080	Human	8	name , alternate_id
8599375	CV28380	single nucleotide variant	NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)	Acute megakaryoblastic leukemia in down syndrome [RCV001293768]\|Cardiovascular phenotype [RCV002362582]\|Noonan syndrome 1 [RCV000014269]\|RASopathy [RCV001030087]\|not provided [RCV001091427]	pathogenic\|likely pathogenic\|uncertain significance	12	112486482	112486482	Human	4	name
8599376	CV28381	single nucleotide variant	NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)	LEOPARD syndrome 1 [RCV000055882]\|Noonan syndrome 1 [RCV001089941]\|Noonan syndrome with multiple lentigines [RCV000037611]\|PTPN11-related disorder [RCV004532345]\|RASopathy [RCV000529342]\|not provided [RCV000033530]\|not specified [RCV001002017]	pathogenic\|conflicting interpretations of pathogenicity	12	112488444	112488444	Human	5	name , alternate_id
8599377	CV28382	single nucleotide variant	NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	Cardiovascular phenotype [RCV002390105]\|LEOPARD syndrome 1 [RCV000055883]\|Noonan syndrome 1 [RCV001281363]\|Noonan syndrome and Noonan-related syndrome [RCV001813203]\|Noonan syndrome with multiple lentigines [RCV000824746]\|PTPN11-related disorder [RCV004532346]\|R ... (more) ASopathy [RCV000033531]\|not provided [RCV000077850]	pathogenic	12	112488454	112488454	Human	5	name , alternate_id
8599378	CV28383	single nucleotide variant	NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	LEOPARD syndrome 1 [RCV000014272]\|Noonan syndrome 1 [RCV001254107]\|Noonan syndrome 1 [RCV002286696]\|Noonan syndrome 3 [RCV000586289]\|Noonan syndrome with multiple lentigines [RCV000520822]\|Noonan syndrome with multiple lentigines [RCV000824752]\|PTPN11-related di ... (more) sorder [RCV004541003]\|RASopathy [RCV000033554]\|not provided [RCV000210036]	pathogenic	12	112489105	112489105	Human	6	name , alternate_id
8599379	CV28384	single nucleotide variant	NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	Cardiovascular phenotype [RCV004018624]\|LEOPARD syndrome 1 [RCV001002770]\|Noonan syndrome 1 [RCV000014273]\|PTPN11-related disorder [RCV004734518]\|RASopathy [RCV000780654]\|not provided [RCV000414743]	pathogenic\|likely pathogenic	12	112489105	112489105	Human	5	name , alternate_id
404981517	CV2850875	single nucleotide variant	NM_002834.5(PTPN11):c.1165A>C (p.Lys389Gln)	not provided [RCV003488315]	uncertain significance	12	112482146	112482146	Human		name
405007839	CV2853572	single nucleotide variant	NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)	Noonan syndrome 1 [RCV003514654]	likely pathogenic	12	112482168	112482168	Human	1	name
405158333	CV2871738	single nucleotide variant	NM_002834.5(PTPN11):c.1117G>A (p.Asp373Asn)	Cardiovascular phenotype [RCV005264429]\|RASopathy [RCV003539651]\|not provided [RCV004765873]	uncertain significance	12	112482098	112482098	Human	1	name
405160778	CV2886624	single nucleotide variant	NM_002834.5(PTPN11):c.1343G>A (p.Ser448Asn)	RASopathy [RCV003540095]\|not provided [RCV005255765]	uncertain significance	12	112486593	112486593	Human	1	name
405056261	CV2957890	single nucleotide variant	NM_002834.5(PTPN11):c.1121A>G (p.Glu374Gly)	RASopathy [RCV003655565]	uncertain significance	12	112482102	112482102	Human	1	name
405059165	CV2987171	single nucleotide variant	NM_002834.5(PTPN11):c.1294C>G (p.Pro432Ala)	Cardiovascular phenotype [RCV004985490]\|RASopathy [RCV003655820]	uncertain significance	12	112486544	112486544	Human	1	name
405059729	CV2995160	single nucleotide variant	NM_002834.5(PTPN11):c.1712A>C (p.Glu571Ala)	RASopathy [RCV003655861]\|not provided [RCV005415674]	uncertain significance	12	112502256	112502256	Human	1	name
405060565	CV3000413	single nucleotide variant	NM_002834.5(PTPN11):c.1657A>T (p.Thr553Ser)	RASopathy [RCV003655905]	uncertain significance	12	112502201	112502201	Human	1	name
405060906	CV3004428	single nucleotide variant	NM_002834.5(PTPN11):c.1172G>A (p.Ser391Asn)	RASopathy [RCV003655932]	uncertain significance	12	112482153	112482153	Human	1	name
405061112	CV3008216	single nucleotide variant	NM_002834.5(PTPN11):c.1604G>A (p.Ser535Asn)	RASopathy [RCV003655948]	uncertain significance	12	112502148	112502148	Human	1	name
405047310	CV3026606	single nucleotide variant	NM_002834.5(PTPN11):c.1708G>T (p.Ala570Ser)	RASopathy [RCV003654473]	uncertain significance	12	112502252	112502252	Human	1	name
405051429	CV3062300	single nucleotide variant	NM_002834.5(PTPN11):c.1594G>C (p.Glu532Gln)	RASopathy [RCV003654770]	uncertain significance	12	112489170	112489170	Human	1	name
405051034	CV3068521	single nucleotide variant	NM_002834.5(PTPN11):c.1496C>G (p.Ser499Cys)	RASopathy [RCV003654739]	uncertain significance	12	112489072	112489072	Human	1	name
405115972	CV3134258	single nucleotide variant	NM_002834.5(PTPN11):c.1348A>T (p.Met450Leu)	Cardiovascular phenotype [RCV005264525]\|RASopathy [RCV003836860]	uncertain significance	12	112486598	112486598	Human	1	name
405212988	CV3169836	single nucleotide variant	NM_002834.5(PTPN11):c.1387A>G (p.Ile463Val)	RASopathy [RCV003862435]\|not provided [RCV004719401]	uncertain significance	12	112488450	112488450	Human	1	name
405256213	CV3222063	single nucleotide variant	NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)	Duane retraction syndrome [RCV004577406]\|RASopathy [RCV005103148]	uncertain significance	12	112489141	112489141	Human	3	name
405688702	CV3318305	single nucleotide variant	NM_002834.5(PTPN11):c.1045A>G (p.Asn349Asp)	Cardiovascular phenotype [RCV004444938]\|RASopathy [RCV005104649]	uncertain significance	12	112477968	112477968	Human	1	name
405675699	CV3386469	single nucleotide variant	NM_002834.5(PTPN11):c.1213A>G (p.Lys405Glu)	Cardiovascular phenotype [RCV004516215]	uncertain significance	12	112482194	112482194	Human		name
405675705	CV3386470	single nucleotide variant	NM_002834.5(PTPN11):c.1615G>T (p.Gly539Trp)	Cardiovascular phenotype [RCV004516216]	uncertain significance	12	112502159	112502159	Human		name
405867942	CV3401331	single nucleotide variant	NM_002834.5(PTPN11):c.1420A>G (p.Ile474Val)	Noonan syndrome 1 [RCV004577642]	likely benign	12	112488483	112488483	Human	1	name
407472440	CV3468365	single nucleotide variant	NM_002834.5(PTPN11):c.1690A>T (p.Thr564Ser)	Cardiovascular phenotype [RCV004662505]\|RASopathy [RCV005102402]	uncertain significance	12	112502234	112502234	Human	1	name
408381123	CV3501823	single nucleotide variant	NM_002834.5(PTPN11):c.1393C>T (p.Arg465Trp)	not provided [RCV004729351]	uncertain significance	12	112488456	112488456	Human		name
408390152	CV3524951	single nucleotide variant	NM_002834.5(PTPN11):c.1357G>T (p.Gly453Trp)	not provided [RCV004769846]	uncertain significance	12	112486607	112486607	Human		name
597706532	CV3585018	single nucleotide variant	NM_002834.5(PTPN11):c.1000C>A (p.Leu334Met)	Cardiovascular phenotype [RCV004989440]\|RASopathy [RCV005107772]	uncertain significance	12	112477923	112477923	Human	1	name
597706535	CV3585019	single nucleotide variant	NM_002834.5(PTPN11):c.1054G>C (p.Val352Leu)	Cardiovascular phenotype [RCV004989441]	uncertain significance	12	112477977	112477977	Human		name
597706541	CV3585020	single nucleotide variant	NM_002834.5(PTPN11):c.1753C>A (p.Leu585Met)	Cardiovascular phenotype [RCV004989442]	likely benign	12	112504735	112504735	Human		name
597706547	CV3585022	single nucleotide variant	NM_002834.5(PTPN11):c.1228A>C (p.Asn410His)	Cardiovascular phenotype [RCV004989444]	uncertain significance	12	112486478	112486478	Human		name
597706621	CV3585040	single nucleotide variant	NM_002834.5(PTPN11):c.1729G>A (p.Ala577Thr)	Cardiovascular phenotype [RCV004989459]\|RASopathy [RCV005061536]	uncertain significance	12	112504711	112504711	Human	1	name
597685209	CV3713707	single nucleotide variant	NM_002834.5(PTPN11):c.1070C>T (p.Thr357Met)	Noonan syndrome 1 [RCV005006810]	uncertain significance	12	112477993	112477993	Human	2	name
597917981	CV3767949	single nucleotide variant	NM_002834.5(PTPN11):c.1232C>A (p.Thr411Lys)	RASopathy [RCV005114750]	uncertain significance	12	112486482	112486482	Human	1	name
597917987	CV3767950	single nucleotide variant	NM_002834.5(PTPN11):c.1400G>T (p.Gly467Val)	RASopathy [RCV005114751]	uncertain significance	12	112488463	112488463	Human	1	name
597918001	CV3767952	single nucleotide variant	NM_002834.5(PTPN11):c.1552G>A (p.Val518Ile)	RASopathy [RCV005114753]	uncertain significance	12	112489128	112489128	Human	1	name
597918006	CV3767953	single nucleotide variant	NM_002834.5(PTPN11):c.1559A>G (p.His520Arg)	RASopathy [RCV005114754]	uncertain significance	12	112489135	112489135	Human	1	name
597918021	CV3767955	single nucleotide variant	NM_002834.5(PTPN11):c.1643C>T (p.Ser548Phe)	RASopathy [RCV005114756]\|not provided [RCV005412721]	uncertain significance	12	112502187	112502187	Human	1	name
597918029	CV3767956	single nucleotide variant	NM_002834.5(PTPN11):c.1645C>G (p.Leu549Val)	RASopathy [RCV005114757]	uncertain significance	12	112502189	112502189	Human	1	name
597952640	CV3815403	single nucleotide variant	NM_002834.5(PTPN11):c.1163T>C (p.Val388Ala)	RASopathy [RCV005161353]	uncertain significance	12	112482144	112482144	Human	1	name
597930162	CV3826925	single nucleotide variant	NM_002834.5(PTPN11):c.1700C>T (p.Pro567Leu)	RASopathy [RCV005156938]	uncertain significance	12	112502244	112502244	Human	1	name
597906401	CV3853450	single nucleotide variant	NM_002834.5(PTPN11):c.1601A>G (p.Lys534Arg)	RASopathy [RCV005202928]	uncertain significance	12	112502145	112502145	Human	1	name
597966057	CV3859030	single nucleotide variant	NM_002834.5(PTPN11):c.1641T>A (p.Tyr547Ter)	RASopathy [RCV005194425]	pathogenic	12	112502185	112502185	Human	1	name
597865623	CV3861246	single nucleotide variant	NM_002834.5(PTPN11):c.1782A>G (p.Ter594Trp)	RASopathy [RCV005196594]	uncertain significance	12	112504764	112504764	Human	1	name
598123006	CV3890156	single nucleotide variant	NM_002834.5(PTPN11):c.1330C>T (p.His444Tyr)	not provided [RCV005250675]	uncertain significance	12	112486580	112486580	Human		name
598181385	CV3904799	single nucleotide variant	NM_002834.5(PTPN11):c.1445A>G (p.Lys482Arg)	Cardiovascular phenotype [RCV005265193]	uncertain significance	12	112488508	112488508	Human		name
598181387	CV3904800	single nucleotide variant	NM_002834.5(PTPN11):c.1153G>A (p.Val385Ile)	Cardiovascular phenotype [RCV005265194]	uncertain significance	12	112482134	112482134	Human		name
598181397	CV3904803	single nucleotide variant	NM_002834.5(PTPN11):c.1580G>T (p.Arg527Leu)	Cardiovascular phenotype [RCV005265197]	uncertain significance	12	112489156	112489156	Human		name
598181447	CV3904819	single nucleotide variant	NM_002834.5(PTPN11):c.1662T>A (p.Ser554Arg)	Cardiovascular phenotype [RCV005265213]	uncertain significance	12	112502206	112502206	Human		name
598181463	CV3904824	single nucleotide variant	NM_002834.5(PTPN11):c.1243G>T (p.Val415Phe)	Cardiovascular phenotype [RCV005265218]	uncertain significance	12	112486493	112486493	Human		name
598181470	CV3904827	single nucleotide variant	NM_002834.5(PTPN11):c.1652A>G (p.Asp551Gly)	Cardiovascular phenotype [RCV005265221]	uncertain significance	12	112502196	112502196	Human		name
598176311	CV4008105	single nucleotide variant	NM_002834.5(PTPN11):c.1276C>A (p.His426Asn)	Noonan syndrome 1 [RCV005393621]	uncertain significance	12	112486526	112486526	Human	2	name
598176319	CV4008106	single nucleotide variant	NM_002834.5(PTPN11):c.1667A>G (p.Asp556Gly)	Noonan syndrome 1 [RCV005393622]	uncertain significance	12	112502211	112502211	Human	2	name
616936446	CV4010514	single nucleotide variant	NM_002834.5(PTPN11):c.1507G>T (p.Gly503Trp)	Cardiovascular phenotype [RCV005403860]	likely pathogenic	12	112489083	112489083	Human		name
8602468	CV40228	single nucleotide variant	NM_002834.5(PTPN11):c.1516C>T (p.Gln506Ter)	Metachondromatosis [RCV000024258]	pathogenic	12	112489092	112489092	Human	1	name
8604507	CV49010	single nucleotide variant	NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)	Cardiovascular phenotype [RCV004018712]\|Noonan syndrome 1 [RCV000763793]\|RASopathy [RCV003539767]\|not provided [RCV000033523]	likely benign\|uncertain significance	12	112477971	112477971	Human	8	name
8604508	CV49011	single nucleotide variant	NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln)	Cardiovascular phenotype [RCV002399354]\|Juvenile myelomonocytic leukemia [RCV003315540]\|Metachondromatosis [RCV005234828]\|PTPN11-related disorder [RCV004541059]\|RASopathy [RCV000521244]\|not provided [RCV000373942]\|not specified [RCV001582506]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112477975	112477975	Human	4	name , alternate_id
8604510	CV49013	single nucleotide variant	NM_002834.4(PTPN11):c.1120G>C (p.Glu374Gln)	Rasopathy [RCV000033526]	uncertain significance	12	112482101	112482101	Human		name
8604511	CV49014	single nucleotide variant	NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)	Cardiovascular phenotype [RCV004017275]\|Noonan syndrome 1 [RCV002477047]\|RASopathy [RCV001042982]\|not specified [RCV000037606]	uncertain significance	12	112482105	112482105	Human	8	name
8604512	CV49015	single nucleotide variant	NM_002834.5(PTPN11):c.1282G>A (p.Val428Met)	Cardiovascular phenotype [RCV004018713]\|Noonan syndrome 1 [RCV001725940]\|Noonan syndrome and Noonan-related syndrome [RCV001813255]\|RASopathy [RCV001852677]\|not provided [RCV000033528]\|not specified [RCV001818207]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112486532	112486532	Human	3	name
8604513	CV49016	single nucleotide variant	NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)	LEOPARD syndrome 1 [RCV001729356]\|Noonan syndrome with multiple lentigines [RCV000037612]\|RASopathy [RCV001060541]\|not provided [RCV000033529]	pathogenic	12	112488444	112488444	Human	3	name
8604514	CV49017	single nucleotide variant	NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro)	Cardiovascular phenotype [RCV002390129]\|Noonan syndrome and Noonan-related syndrome [RCV001813256]\|Noonan syndrome with multiple lentigines [RCV001804754]\|RASopathy [RCV000231162]\|not provided [RCV000033532]	pathogenic	12	112488465	112488465	Human	2	name
8604515	CV49018	single nucleotide variant	NM_002834.5(PTPN11):c.1453G>T (p.Asp485Tyr)	RASopathy [RCV003655574]	likely pathogenic\|uncertain significance	12	112489029	112489029	Human	1	name
8604516	CV49019	single nucleotide variant	NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)	Cardiovascular phenotype [RCV004018714]\|Noonan syndrome 1 [RCV000660240]\|Noonan syndrome 1 [RCV002490445]\|Noonan syndrome [RCV000208219]\|RASopathy [RCV000694590]\|not provided [RCV000033535]	pathogenic\|likely pathogenic	12	112489047	112489047	Human	8	name
8604517	CV49020	single nucleotide variant	NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)	Noonan syndrome 1 [RCV000984919]\|Noonan syndrome 1 [RCV004795948]\|Noonan syndrome [RCV000157010]\|Noonan syndrome and Noonan-related syndrome [RCV001813257]\|RASopathy [RCV000033536]\|not provided [RCV000254684]	pathogenic	12	112489047	112489047	Human	8	name
8604518	CV49021	single nucleotide variant	NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)	Cardiovascular phenotype [RCV002390130]\|Noonan syndrome 1 [RCV002490446]\|Noonan syndrome [RCV000037617]\|RASopathy [RCV001378165]\|Short stature [RCV001730478]\|not provided [RCV000033537]	pathogenic\|likely pathogenic	12	112489048	112489048	Human	13	name
8604519	CV49022	single nucleotide variant	NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	LEOPARD syndrome 1 [RCV001335067]\|Noonan syndrome 1 [RCV001002769]\|Noonan syndrome 1 [RCV002504856]\|Noonan syndrome [RCV000156989]\|Noonan syndrome and Noonan-related syndrome [RCV001813258]\|PTPN11-related disorder [RCV004532492]\|RASopathy [RCV000033538]\|not prov ... (more) ided [RCV000254685]	pathogenic\|likely pathogenic	12	112489048	112489048	Human	8	name , alternate_id
8604520	CV49023	single nucleotide variant	NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	Cardiovascular phenotype [RCV004018715]\|LEOPARD syndrome 1 [RCV000055885]\|Metachondromatosis [RCV004558285]\|Noonan syndrome 1 [RCV000722171]\|Noonan syndrome 1 [RCV002490447]\|Noonan syndrome and Noonan-related syndrome [RCV001813259]\|Noonan syndrome with multiple lentigines [RCV000824747]\|PTPN11 ... (more) ='font-weight:700;'>PTPN11-related disorder [RCV004532493]\|RASopathy [RCV000033539]\|not provided [RCV000254686]	pathogenic\|likely pathogenic\|drug response	12	112489068	112489068	Human	8	name , alternate_id
8604521	CV49024	single nucleotide variant	NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	LEOPARD syndrome 1 [RCV000055886]\|Noonan syndrome 1 [RCV000494687]\|Noonan syndrome and Noonan-related syndrome [RCV001813260]\|Noonan syndrome with multiple lentigines [RCV000824748]\|Noonan syndrome with multiple lentigines [RCV005406769]\|RASopathy [RCV000033540]\|Scoliosis [RCV000626828]\|not provided ... (more) [RCV000212896]	pathogenic\|likely pathogenic	12	112489069	112489069	Human	14	name
8604522	CV49025	single nucleotide variant	NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)	Cardiovascular phenotype [RCV004018716]\|Epicanthus [RCV001800333]\|Noonan syndrome 1 [RCV002260947]\|Noonan syndrome 1 [RCV004795949]\|Noonan syndrome [RCV000037618]\|RASopathy [RCV000466382]\|not provided [RCV000033541]	pathogenic\|likely pathogenic	12	112489078	112489078	Human	18	name
8604523	CV49026	single nucleotide variant	NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)	Juvenile myelomonocytic leukemia [RCV000033542]\|RASopathy [RCV001731329]\|not provided [RCV000212898]	pathogenic	12	112489080	112489080	Human	3	name
8604524	CV49027	single nucleotide variant	NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)	Noonan syndrome 1 [RCV002227049]\|Noonan syndrome [RCV000037619]\|RASopathy [RCV000781773]\|not provided [RCV000033544]	pathogenic\|likely pathogenic	12	112489081	112489081	Human	3	name
8604525	CV49028	single nucleotide variant	NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	Cardiovascular phenotype [RCV002390131]\|Juvenile myelomonocytic leukemia [RCV000824750]\|Neurodevelopmental disorder [RCV001374913]\|Noonan syndrome 1 [RCV000515165]\|Noonan syndrome 1 [RCV001028095]\|PTPN11-related disorder [RCV004532494]\|RASopathy [RCV000033545]\|n ... (more) ot provided [RCV000210040]	pathogenic	12	112489083	112489083	Human	9	name , alternate_id
8604526	CV49029	single nucleotide variant	NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	Cardiovascular phenotype [RCV000618529]\|Juvenile myelomonocytic leukemia [RCV000824749]\|LEOPARD syndrome 1 [RCV003147311]\|Metachondromatosis [RCV003147310]\|Noonan syndrome 1 [RCV000660241]\|Noonan syndrome 1 [RCV000762886]\|Noonan syndrome [RCV000157015]\|Noonan syndrome and Noonan-related syndrome [RC ... (more) V001813261]\|PTPN11-related disorder [RCV004532495]\|RASopathy [RCV000033546]\|not provided [RCV000077852]	pathogenic	12	112489083	112489083	Human	8	name , alternate_id
8604527	CV49030	single nucleotide variant	NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val)	Embryonal rhabdomyosarcoma [RCV000505671]	pathogenic\|likely pathogenic\|other	12	112489084	112489084	Human	2	name
8604528	CV49031	single nucleotide variant	NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)	LEOPARD syndrome 1 [RCV000677651]\|Metachondromatosis [RCV003450655]\|Noonan syndrome 1 [RCV001330778]\|Noonan syndrome 1 [RCV002490448]\|RASopathy [RCV000532971]\|not provided [RCV000033548]	pathogenic\|likely pathogenic	12	112489084	112489084	Human	5	name
8604529	CV49032	single nucleotide variant	NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	Cardiovascular phenotype [RCV002390132]\|Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991572]\|Noonan syndrome 1 [RCV000677652]\|Noonan syndrome 1 [RCV000762887]\|Noonan syndrome 1 [RCV001027841]\|Noonan syndrome [RCV000156983]\|PTPN11 ... (more) N11-related disorder [RCV004532496]\|RASopathy [RCV000033549]\|not provided [RCV000077853]	pathogenic\|likely pathogenic	12	112489086	112489086	Human	9	name , alternate_id
8604530	CV49033	single nucleotide variant	NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)	Cardiovascular phenotype [RCV002390133]\|Congenital long QT syndrome [RCV004732584]\|LEOPARD syndrome 1 [RCV000055887]\|Noonan syndrome 1 [RCV004554638]\|Noonan syndrome [RCV001849289]\|Noonan syndrome with multiple lentigines [RCV000154371]\|PTPN11-related disorder [ ... (more) RCV004541060]\|RASopathy [RCV000033550]\|not provided [RCV000157683]	pathogenic\|likely pathogenic\|not provided	12	112489093	112489093	Human	8	name , alternate_id
8604531	CV49035	single nucleotide variant	NM_002834.4(PTPN11):c.1528C>A (p.Gln510Lys)	Rasopathy [RCV000033552]	pathogenic	12	112489104	112489104	Human		name
8604532	CV49036	single nucleotide variant	NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)	Cardiovascular phenotype [RCV000619738]\|LEOPARD syndrome 1 [RCV000055888]\|Noonan syndrome 1 [RCV000679882]\|Noonan syndrome 3 [RCV000589512]\|Noonan syndrome with multiple lentigines [RCV000824751]\|PTPN11-related disorder [RCV004545736]\|RASopathy [RCV000033553]\|Se ... (more) e cases [RCV002251945]\|not provided [RCV000210041]	pathogenic\|not provided	12	112489104	112489104	Human	6	name , alternate_id
8570863	CV49037	single nucleotide variant	NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)	Cardiovascular phenotype [RCV002399355]\|LEOPARD syndrome 1 [RCV003147314]\|Metachondromatosis [RCV003147313]\|Noonan syndrome 1 [RCV002490449]\|Noonan syndrome 1 [RCV003147312]\|PTPN11-related disorder [RCV004532497]\|RASopathy [RCV000521890]\|not provided [RCV0000778 ... (more) 54]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112489106	112489106	Human	8	name , alternate_id
8604533	CV49038	single nucleotide variant	NM_002834.3(PTPN11):c.1595A>G (p.Glu532Gly)	Rasopathy [RCV000033556]	likely pathogenic	12	112489171	112489171	Human		name
8604534	CV49040	single nucleotide variant	NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)	Cardiovascular phenotype [RCV000254003]\|Metachondromatosis [RCV000988917]\|Noonan syndrome 1 [RCV000755651]\|Noonan syndrome [RCV000156990]\|Noonan syndrome and Noonan-related syndrome [RCV001813262]\|PTPN11-related disorder [RCV004532498]\|Primary dilated cardiomyop ... (more) athy [RCV000852687]\|RASopathy [RCV000033558]\|not provided [RCV000077855]\|not specified [RCV000037622]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	12	112502202	112502202	Human	10	name , alternate_id
8604535	CV49041	single nucleotide variant	NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met)	Noonan syndrome 1 [RCV002470726]\|RASopathy [RCV001321672]\|not provided [RCV000033559]\|not specified [RCV003155047]	uncertain significance	12	112502241	112502241	Human	2	name
8607417	CV53763	single nucleotide variant	NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)	Cardiovascular phenotype [RCV002362629]\|Neurofibroma [RCV000626827]\|Noonan syndrome 1 [RCV002477095]\|Noonan syndrome and Noonan-related syndrome [RCV001813326]\|RASopathy [RCV001296596]\|not provided [RCV004696650]\|not specified [RCV000037608]	pathogenic\|uncertain significance	12	112486476	112486476	Human	10	name
8607418	CV53764	single nucleotide variant	NM_002834.5(PTPN11):c.1366G>A (p.Val456Met)	Noonan syndrome 1 [RCV005007951]\|RASopathy [RCV000461820]\|not specified [RCV000037610]	uncertain significance	12	112486616	112486616	Human	3	name
8607420	CV53766	single nucleotide variant	NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)	Cardiovascular phenotype [RCV002399376]\|Metachondromatosis [RCV000988918]\|Noonan syndrome 1 [RCV000515375]\|Noonan syndrome and Noonan-related syndrome [RCV001813327]\|PTPN11-related disorder [RCV004534798]\|RASopathy [RCV000159057]\|not provided [RCV000157702]\|not ... (more) specified [RCV000037623]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	112502222	112502222	Human	8	name , alternate_id
8607422	CV53768	single nucleotide variant	NM_002834.5(PTPN11):c.1724A>G (p.Asp575Gly)	RASopathy [RCV002513481]\|not specified [RCV000037625]	uncertain significance	12	112504706	112504706	Human	1	name
8616633	CV70454	single nucleotide variant	NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly)	LEOPARD syndrome 1 [RCV002269822]\|PTPN11-related disorder [RCV004537234]\|not specified [RCV000614347]	pathogenic\|likely pathogenic\|uncertain significance	12	112488445	112488445	Human	2	name , alternate_id
21074842	CV798651	single nucleotide variant	NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu)	Noonan syndrome 1 [RCV000995622]	likely pathogenic	12	112486521	112486521	Human	1	name
21406037	CV799666	single nucleotide variant	NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)	Noonan syndrome 1 [RCV003989616]\|Noonan syndrome [RCV001261024]\|PTPN11-related disorder [RCV004528333]\|not provided [RCV001171895]\|not specified [RCV001001798]	pathogenic\|likely pathogenic	12	112489106	112489106	Human	2	name , alternate_id
26917145	CV839325	single nucleotide variant	NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)	Noonan syndrome 1 [RCV003514461]\|Noonan syndrome 1 [RCV005012502]\|RASopathy [RCV001056808]\|not provided [RCV001788413]	pathogenic\|likely pathogenic\|uncertain significance	12	112486532	112486532	Human	3	name
26912670	CV839326	single nucleotide variant	NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr)	Cardiovascular phenotype [RCV005262210]\|Noonan syndrome 1 [RCV005012497]\|RASopathy [RCV001053742]	uncertain significance	12	112504697	112504697	Human	8	name
34891129	CV905932	single nucleotide variant	NM_002834.5(PTPN11):c.1669C>A (p.Gln557Lys)	Cardiovascular phenotype [RCV005262259]\|not specified [RCV001174786]	uncertain significance	12	112502213	112502213	Human		name
38466236	CV919411	single nucleotide variant	NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys)	LEOPARD syndrome 1 [RCV001198644]\|Noonan syndrome 1 [RCV005005064]	uncertain significance	12	112504721	112504721	Human	3	name
38472323	CV926468	single nucleotide variant	NM_002834.5(PTPN11):c.1547T>C (p.Met516Thr)	Cardiovascular phenotype [RCV005262287]\|RASopathy [RCV001214373]	uncertain significance	12	112489123	112489123	Human	1	name
38468199	CV935923	single nucleotide variant	NM_002834.5(PTPN11):c.1385G>T (p.Gly462Val)	RASopathy [RCV001203190]	uncertain significance	12	112488448	112488448	Human	1	name
38472186	CV935924	single nucleotide variant	NM_002834.5(PTPN11):c.1426A>G (p.Ile476Val)	RASopathy [RCV001213640]	uncertain significance	12	112488489	112488489	Human	1	name
40814114	CV966980	single nucleotide variant	NM_002834.5(PTPN11):c.1040A>G (p.Gln347Arg)	Intellectual disability [RCV001257613]	uncertain significance	12	112477963	112477963	Human	2	name
40814113	CV966981	single nucleotide variant	NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu)	Intellectual disability [RCV001257612]\|Noonan syndrome 1 [RCV002471063]\|RASopathy [RCV001879977]\|not provided [RCV004762028]	pathogenic\|likely pathogenic\|uncertain significance	12	112486532	112486532	Human	4	name
40814685	CV969674	single nucleotide variant	NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)	Noonan syndrome [RCV001261018]	likely benign	12	112488465	112488465	Human	1	name
40814687	CV969675	single nucleotide variant	NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)	Noonan syndrome [RCV001261021]\|RASopathy [RCV005094239]\|not specified [RCV001526964]	likely pathogenic\|uncertain significance	12	112489072	112489072	Human	2	name
40814688	CV969676	single nucleotide variant	NM_002834.5(PTPN11):c.1500G>T (p.Gln500His)	Noonan syndrome [RCV001261022]	uncertain significance	12	112489076	112489076	Human	1	name
40814690	CV969677	single nucleotide variant	NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)	Noonan syndrome [RCV001261023]\|Noonan syndrome and Noonan-related syndrome [RCV001813585]	likely pathogenic	12	112489105	112489105	Human	1	name
40815891	CV970540	single nucleotide variant	NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr)	Noonan syndrome 1 [RCV001261995]	likely pathogenic	12	112488472	112488472	Human	1	name
40889428	CV972585	single nucleotide variant	NM_002834.5(PTPN11):c.1499A>G (p.Gln500Arg)	Cardiovascular phenotype [RCV004035417]\|RASopathy [RCV002537668]\|not specified [RCV001264424]	uncertain significance	12	112489075	112489075	Human	1	name
41404990	CV981770	single nucleotide variant	NM_002834.5(PTPN11):c.1402A>G (p.Thr468Ala)	not provided [RCV001577287]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	112488465	112488465	Human		name
401934860	CV2800534	indel	NM_002834.5(PTPN11):c.717delinsAGATAAAGTTTG (p.Thr240fs)	PTPN11-related disorder [RCV004529793]	likely pathogenic	12	112456024	112456024	Human		trait , alternate_id
12742302	CV360079	single nucleotide variant	NM_002834.5(PTPN11):c.1051C>T (p.Arg351Ter)	PTPN11-related disorder [RCV004725202]\|not provided [RCV000413347]	pathogenic\|likely pathogenic	12	112477974	112477974	Human		alternate_id
13489537	CV444918	single nucleotide variant	NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)	Cardiovascular phenotype [RCV003278863]\|Noonan syndrome 1 [RCV002481692]\|PTPN11-related disorder [RCV004735590]\|RASopathy [RCV001343021]\|not provided [RCV000523921]	uncertain significance	12	112486511	112486511	Human	8	alternate_id
21076025	CV792557	microsatellite	NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)	Noonan syndrome 1 [RCV000991102]\|Noonan syndrome 1 [RCV002489463]\|PTPN11-related disorder [RCV004544990]\|RASopathy [RCV002549756]\|not provided [RCV003229002]	likely pathogenic\|uncertain significance	12	112472949	112472951	Human		alternate_id

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