Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for All species
(View Results for all Objects and Ontologies)


1002 records found for search term Sos2
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405289066CV3193975single nucleotide variantNM_006939.4(SOS2):c.-6G>CSOS2-related disorder [RCV003983478]likely benign145023128950231289Humanname , trait , alternate_id
40889533CV972595single nucleotide variantNM_006939.4(SOS2):c.-4G>Anot specified [RCV001264609]benign145023128750231287Humanname
150416053CV1191579single nucleotide variantNM_006939.4(SOS2):c.*50T>Anot provided [RCV001568265]likely benign145011829450118294Humanname
150427796CV1188127single nucleotide variantNM_006939.4(SOS2):c.-269G>Anot provided [RCV001561403]likely benign145023155250231552Humanname
152080073CV1620659single nucleotide variantNM_006939.4(SOS2):c.88-5T>ACardiovascular phenotype [RCV004045875]|Noonan syndrome 9 [RCV002112626]|SOS2-related disorder [RCV003893313]likely benign|uncertain significance145020441450204414Human1name , alternate_id
153301072CV1688916single nucleotide variantNM_006939.4(SOS2):c.*234G>ANoonan syndrome 9 [RCV002266644]uncertain significance145011811050118110Human1name
155986910CV1884080single nucleotide variantNM_006939.4(SOS2):c.88-9T>GNoonan syndrome 9 [RCV003075929]likely benign145020441850204418Human1name
243061346CV2408867single nucleotide variantNM_006939.4(SOS2):c.87+1G>TNoonan syndrome 9 [RCV003138584]uncertain significance145023119650231196Human1name
405056633CV2899220single nucleotide variantNM_006939.4(SOS2):c.88-8T>CNoonan syndrome 9 [RCV003593350]likely benign145020441750204417Human1name
12833509CV376072single nucleotide variantNM_006939.4(SOS2):c.88-6T>CNoonan syndrome 9 [RCV001515862]|not provided [RCV000586765]|not specified [RCV001706628]benign145020441550204415Human1name
597860074CV3850391single nucleotide variantNM_006939.4(SOS2):c.88-6T>GNoonan syndrome 9 [RCV005195724]likely benign145020441550204415Human1name
127292095CV1157263deletionNM_006939.4(SOS2):c.859-4delNoonan syndrome 9 [RCV001510718]|not provided [RCV003326583]benign|likely benign145018068650180686Human1name
150542046CV1298069single nucleotide variantNM_006939.4(SOS2):c.214-8T>Cnot provided [RCV001768682]uncertain significance145020109250201092Humanname
151726178CV1337758single nucleotide variantNM_006939.4(SOS2):c.88-17A>GNoonan syndrome 9 [RCV001945550]likely benign|uncertain significance145020442650204426Human1name
151802705CV1351673single nucleotide variantNM_006939.4(SOS2):c.345+6A>GNoonan syndrome 9 [RCV001974056]uncertain significance145020094750200947Human1name
151803871CV1351887single nucleotide variantNM_006939.4(SOS2):c.969+6C>TNoonan syndrome 9 [RCV001974156]uncertain significance145018056650180566Human1name
152029616CV1568360single nucleotide variantNM_006939.4(SOS2):c.87+19G>ANoonan syndrome 9 [RCV002105647]likely benign145023117850231178Human1name
152059058CV1652130single nucleotide variantNM_006939.4(SOS2):c.88-10T>CNoonan syndrome 9 [RCV002190304]|SOS2-related disorder [RCV003984174]likely benign145020441950204419Human1name , alternate_id
152028180CV1655112duplicationNM_006939.4(SOS2):c.88-14dupNoonan syndrome 9 [RCV002105146]likely benign145020442250204423Human1name
152113662CV1659493single nucleotide variantNM_006939.4(SOS2):c.858+7T>CNoonan syndrome 9 [RCV002080594]likely benign145018245650182456Human1name
152079576CV1663440single nucleotide variantNM_006939.4(SOS2):c.88-13C>ANoonan syndrome 9 [RCV002149126]likely benign145020442250204422Human1name
155673700CV1802481single nucleotide variantNM_006939.4(SOS2):c.511-4T>CCardiovascular phenotype [RCV002351516]uncertain significance145018870450188704Humanname
156324825CV1871092single nucleotide variantNM_006939.4(SOS2):c.213+7A>GNoonan syndrome 9 [RCV003063326]likely benign145020427750204277Human1name
155960393CV1873727single nucleotide variantNM_006939.4(SOS2):c.345+5C>TNoonan syndrome 9 [RCV003074654]uncertain significance145020094850200948Human1name
156404458CV1898267single nucleotide variantNM_006939.4(SOS2):c.345+7A>GNoonan syndrome 9 [RCV002585412]|not specified [RCV005419568]likely benign145020094650200946Human1name
156300733CV1902045single nucleotide variantNM_006939.4(SOS2):c.88-19T>CNoonan syndrome 9 [RCV003087915]likely benign145020442850204428Human1name
156081463CV2012019single nucleotide variantNM_006939.4(SOS2):c.87+11G>ANoonan syndrome 9 [RCV002706003]likely benign145023118650231186Human1name
156018626CV2120735single nucleotide variantNM_006939.4(SOS2):c.346-6T>ANoonan syndrome 9 [RCV002976036]likely benign145019986150199861Human1name
156138656CV2129283single nucleotide variantNM_006939.4(SOS2):c.714+9C>TNoonan syndrome 9 [RCV002954145]likely benign145018848850188488Human1name
156159300CV2138982single nucleotide variantNM_006939.4(SOS2):c.87+18G>ANoonan syndrome 9 [RCV002982939]likely benign145023117950231179Human1name
402518223CV2886898single nucleotide variantNM_006939.4(SOS2):c.714+1G>ANoonan syndrome 9 [RCV003593177]uncertain significance145018849650188496Human1name
405053465CV2888362single nucleotide variantNM_006939.4(SOS2):c.715-4T>ANoonan syndrome 9 [RCV003593003]likely benign145018261050182610Human1name
405139176CV2944162single nucleotide variantNM_006939.4(SOS2):c.715-3C>TNoonan syndrome 9 [RCV003755096]uncertain significance145018260950182609Human1name
405139386CV2947594single nucleotide variantNM_006939.4(SOS2):c.858+5G>CNoonan syndrome 9 [RCV003755117]uncertain significance145018245850182458Human1name
405144291CV2995675single nucleotide variantNM_006939.4(SOS2):c.346-5C>TNoonan syndrome 9 [RCV003755651]likely benign145019986050199860Human1name
405144903CV3003739single nucleotide variantNM_006939.4(SOS2):c.214-9A>TNoonan syndrome 9 [RCV003755716]likely benign145020109350201093Human1name
405145974CV3016972single nucleotide variantNM_006939.4(SOS2):c.88-16T>CNoonan syndrome 9 [RCV003755842]likely benign145020442550204425Human1name
405147534CV3030308single nucleotide variantNM_006939.4(SOS2):c.88-19T>GNoonan syndrome 9 [RCV003755968]likely benign145020442850204428Human1name
405147551CV3030678single nucleotide variantNM_006939.4(SOS2):c.969+5A>GNoonan syndrome 9 [RCV003755971]uncertain significance145018056750180567Human1name
405154221CV3080414single nucleotide variantNM_006939.4(SOS2):c.511-8T>CNoonan syndrome 9 [RCV003756604]likely benign145018870850188708Human1name
405081840CV3156795single nucleotide variantNM_006939.4(SOS2):c.345+3A>GNoonan syndrome 9 [RCV003851657]uncertain significance145020095050200950Human1name
402510603CV3178313single nucleotide variantNM_006939.4(SOS2):c.214-9A>GNoonan syndrome 9 [RCV003878930]likely benign145020109350201093Human1name
597918233CV3737810single nucleotide variantNM_006939.4(SOS2):c.859-3T>CNoonan syndrome 9 [RCV005074409]uncertain significance145018068550180685Human1name
597835984CV3739758single nucleotide variantNM_006939.4(SOS2):c.87+10A>CNoonan syndrome 9 [RCV005063978]likely benign145023118750231187Human1name
597933980CV3750375single nucleotide variantNM_006939.4(SOS2):c.87+11G>CNoonan syndrome 9 [RCV005076300]likely benign145023118650231186Human1name
597875021CV3766253single nucleotide variantNM_006939.4(SOS2):c.510+3A>GNoonan syndrome 9 [RCV005108385]uncertain significance145019968850199688Human1name
597969165CV3821409deletionNM_006939.4(SOS2):c.87+10delNoonan syndrome 9 [RCV005166051]likely benign145023118750231187Human1name
597873083CV3836237single nucleotide variantNM_006939.4(SOS2):c.214-7T>GNoonan syndrome 9 [RCV005177034]uncertain significance145020109150201091Human1name
597860079CV3850392single nucleotide variantNM_006939.4(SOS2):c.88-12T>CNoonan syndrome 9 [RCV005195725]likely benign145020442150204421Human1name
13465333CV463289single nucleotide variantNM_006939.4(SOS2):c.858+9A>GNoonan syndrome 9 [RCV001084854]|SOS2-related disorder [RCV003935542]|not provided [RCV000589689]|not specified [RCV000607824]benign145018245450182454Human1name , alternate_id
13797041CV552837single nucleotide variantNM_006939.4(SOS2):c.87+37G>Anot provided [RCV000680922]benign145023116050231160Humanname
34891269CV906058single nucleotide variantNM_006939.4(SOS2):c.213+7A>Cnot specified [RCV001174920]uncertain significance145020427750204277Humanname
38474694CV940304single nucleotide variantNM_006939.4(SOS2):c.346-3C>TCardiovascular phenotype [RCV004671250]|Noonan syndrome 9 [RCV001203925]uncertain significance145019985850199858Human1name
126768504CV1031619single nucleotide variantNM_006939.4(SOS2):c.2668-5T>CNoonan syndrome 9 [RCV001343398]likely benign|uncertain significance145014006450140064Human1name
127308883CV1123764deletionNM_006939.4(SOS2):c.3338-8delNoonan syndrome 9 [RCV001456180]likely benign145013001050130010Human1name
127320240CV1123769single nucleotide variantNM_006939.4(SOS2):c.1197-8T>GNoonan syndrome 9 [RCV001466858]likely benign145016009450160094Human1name
127328702CV1123772single nucleotide variantNM_006939.4(SOS2):c.213+10A>GNoonan syndrome 9 [RCV001469716]likely benign145020427450204274Human1name
127298128CV1144621duplicationNM_006939.4(SOS2):c.2786-5dupNoonan syndrome 9 [RCV001497954]likely benign145013878850138789Human1name
150410880CV1177784single nucleotide variantNM_006939.4(SOS2):c.345+30G>Tnot provided [RCV001546873]likely benign145020092350200923Humanname
150418724CV1181170duplicationNM_006939.4(SOS2):c.87+173dupnot provided [RCV001550726]likely benign145023101250231013Humanname
150462937CV1206659single nucleotide variantNM_006939.4(SOS2):c.88-330A>Gnot provided [RCV001587060]likely benign145020473950204739Humanname
150507318CV1211146deletionNM_006939.4(SOS2):c.87+184delnot provided [RCV001596264]benign145023101350231013Humanname
150505738CV1213602deletionNM_006939.4(SOS2):c.969+40delnot provided [RCV001595858]benign145018053250180532Humanname
150455513CV1220471single nucleotide variantNM_006939.4(SOS2):c.969+39A>Tnot provided [RCV001612564]benign145018053350180533Humanname
150511463CV1229469single nucleotide variantNM_006939.4(SOS2):c.969+38T>Anot provided [RCV001637398]benign145018053450180534Humanname
150471022CV1248132single nucleotide variantNM_006939.4(SOS2):c.87+106C>Gnot provided [RCV001671168]benign145023109150231091Humanname
150436597CV1249717single nucleotide variantNM_006939.4(SOS2):c.715-40C>Gnot provided [RCV001665631]benign145018264650182646Humanname
150474223CV1252534single nucleotide variantNM_006939.4(SOS2):c.346-43A>Gnot provided [RCV001671737]benign145019989850199898Humanname
150498810CV1255641single nucleotide variantNM_006939.4(SOS2):c.969+27T>Gnot provided [RCV001676429]benign145018054550180545Humanname
150441374CV1265773single nucleotide variantNM_006939.4(SOS2):c.970-30T>Cnot provided [RCV001690498]benign145017458250174582Humanname
150444123CV1277950single nucleotide variantNM_006939.4(SOS2):c.345+44A>Gnot provided [RCV001707093]benign145020090950200909Humanname
150539084CV1295135duplicationNM_006939.4(SOS2):c.969+38dupnot provided [RCV001765096]benign145018053350180534Humanname
150534984CV1311726single nucleotide variantNM_006939.4(SOS2):c.858+12A>GNoonan syndrome 9 [RCV002034540]|not specified [RCV001779537]likely benign|uncertain significance145018245150182451Human1name
151737839CV1362246deletionNM_006939.4(SOS2):c.2668-4delNoonan syndrome 9 [RCV001967834]likely benign|uncertain significance145014006350140063Human1name
151710462CV1376953single nucleotide variantNM_006939.4(SOS2):c.3490-3G>TNoonan syndrome 9 [RCV001889267]uncertain significance145011885650118856Human1name
151821729CV1387398duplicationNM_006939.4(SOS2):c.3490-2dupNoonan syndrome 9 [RCV001992840]uncertain significance145011885450118855Human1name
151808729CV1407232single nucleotide variantNM_006939.4(SOS2):c.1197-3T>CNoonan syndrome 9 [RCV002048652]uncertain significance145016008950160089Human1name
151727024CV1409823single nucleotide variantNM_006939.4(SOS2):c.3379+6T>CNoonan syndrome 9 [RCV001910480]uncertain significance145012995550129955Human1name
151815719CV1444724single nucleotide variantNM_006939.4(SOS2):c.1852+3A>GNoonan syndrome 9 [RCV001933652]uncertain significance145015942850159428Human1name
152033887CV1542793single nucleotide variantNM_006939.4(SOS2):c.510+14G>TNoonan syndrome 9 [RCV002106650]likely benign145019967750199677Human1name
152089778CV1550462single nucleotide variantNM_006939.4(SOS2):c.2785+9C>GNoonan syndrome 9 [RCV002131898]likely benign145013993350139933Human1name
152139194CV1563617single nucleotide variantNM_006939.4(SOS2):c.2385-6C>TNoonan syndrome 9 [RCV002200355]likely benign145014560250145602Human1name
152130818CV1567843deletionNM_006939.4(SOS2):c.714+14delNoonan syndrome 9 [RCV002218046]benign145018848350188483Human1name
152067294CV1579196single nucleotide variantNM_006939.4(SOS2):c.510+11C>ANoonan syndrome 9 [RCV002074622]likely benign145019968050199680Human1name
152089147CV1580585single nucleotide variantNM_006939.4(SOS2):c.511-11C>TNoonan syndrome 9 [RCV002093928]likely benign145018871150188711Human1name
152026875CV1593563single nucleotide variantNM_006939.4(SOS2):c.213+18A>CNoonan syndrome 9 [RCV002104704]likely benign145020426650204266Human1name
152058987CV1595806single nucleotide variantNM_006939.4(SOS2):c.858+19T>ANoonan syndrome 9 [RCV002090031]likely benign145018244450182444Human1name
152086689CV1599551single nucleotide variantNM_006939.4(SOS2):c.859-19T>CNoonan syndrome 9 [RCV002093581]likely benign145018070150180701Human1name
152122899CV1613624single nucleotide variantNM_006939.4(SOS2):c.214-12G>ANoonan syndrome 9 [RCV002081802]likely benign145020109650201096Human1name
152068735CV1613714single nucleotide variantNM_006939.4(SOS2):c.510+15G>ANoonan syndrome 9 [RCV002074805]likely benign145019967650199676Human1name
152158021CV1630678duplicationNM_006939.4(SOS2):c.1069-6dupNoonan syndrome 9 [RCV002122706]|SOS2-related disorder [RCV003895810]benign|likely benign145016161450161615Human1name , alternate_id
152150788CV1663248single nucleotide variantNM_006939.4(SOS2):c.715-15C>TNoonan syndrome 9 [RCV002158159]likely benign145018262150182621Human1name
155800632CV1863754deletionNM_006939.4(SOS2):c.1196+6delnot provided [RCV002474177]uncertain significance145016147650161476Humanname
156270241CV1870673single nucleotide variantNM_006939.4(SOS2):c.2505-8G>ANoonan syndrome 9 [RCV003060688]likely benign145014534050145340Human1name
156360116CV1874091single nucleotide variantNM_006939.4(SOS2):c.970-15C>ANoonan syndrome 9 [RCV003065551]likely benign145017456750174567Human1name
156337627CV1902335single nucleotide variantNM_006939.4(SOS2):c.510+15G>TNoonan syndrome 9 [RCV003090164]likely benign145019967650199676Human1name
156088773CV1919641single nucleotide variantNM_006939.4(SOS2):c.970-15C>GNoonan syndrome 9 [RCV002591836]likely benign145017456750174567Human1name
156415124CV1965184single nucleotide variantNM_006939.4(SOS2):c.1069-4T>CNoonan syndrome 9 [RCV002588989]likely benign145016161350161613Human1name
156017192CV2010435deletionNM_006939.4(SOS2):c.1197-5delNoonan syndrome 9 [RCV002735201]benign145016009150160091Human1name
156278261CV2011418single nucleotide variantNM_006939.4(SOS2):c.969+19T>GNoonan syndrome 9 [RCV002715210]likely benign145018055350180553Human1name
156281321CV2071020duplicationNM_006939.4(SOS2):c.969+18dupNoonan syndrome 9 [RCV002856394]likely benign145018055350180554Human1name
156092721CV2077336single nucleotide variantNM_006939.4(SOS2):c.511-20T>CNoonan syndrome 9 [RCV002847779]likely benign145018872050188720Human1name
156004968CV2099680single nucleotide variantNM_006939.4(SOS2):c.970-16T>CNoonan syndrome 9 [RCV002908812]likely benign145017456850174568Human1name
156002858CV2119106single nucleotide variantNM_006939.4(SOS2):c.858+20T>CNoonan syndrome 9 [RCV002975267]likely benign145018244350182443Human1name
155950718CV2133152deletionNM_006939.4(SOS2):c.859-19delNoonan syndrome 9 [RCV002994614]benign145018070150180701Human1name
155935786CV2138827single nucleotide variantNM_006939.4(SOS2):c.714+12T>CNoonan syndrome 9 [RCV002993710]likely benign145018848550188485Human1name
156041481CV2143473single nucleotide variantNM_006939.4(SOS2):c.1852+2T>CNoonan syndrome 9 [RCV002999539]uncertain significance145015942950159429Human1name
156378516CV2189310single nucleotide variantNM_006939.4(SOS2):c.214-20G>ANoonan syndrome 9 [RCV003050304]likely benign145020110450201104Human1name
401919544CV2798468single nucleotide variantNM_006939.4(SOS2):c.3489+3A>GSOS2-related disorder [RCV003402394]uncertain significance145012027250120272Humanname , trait , alternate_id
405047679CV2854341single nucleotide variantNM_006939.4(SOS2):c.2058-4T>ANoonan syndrome 9 [RCV003592418]likely benign145015317750153177Human1name
405052024CV2884085single nucleotide variantNM_006939.4(SOS2):c.1196+5T>CNoonan syndrome 9 [RCV003592867]uncertain significance145016147750161477Human1name
405052564CV2884771single nucleotide variantNM_006939.4(SOS2):c.858+12A>CNoonan syndrome 9 [RCV003592929]likely benign145018245150182451Human1name
405201760CV2897065single nucleotide variantNM_006939.4(SOS2):c.1934+6A>CNoonan syndrome 9 [RCV003591317]uncertain significance145015855950158559Human1name
405201164CV2902409single nucleotide variantNM_006939.4(SOS2):c.969+18G>TNoonan syndrome 9 [RCV003591160]likely benign145018055450180554Human1name
405038243CV2915663single nucleotide variantNM_006939.4(SOS2):c.1934+1G>ANoonan syndrome 9 [RCV003591394]uncertain significance145015856450158564Human1name
405139094CV2937431single nucleotide variantNM_006939.4(SOS2):c.213+20T>GNoonan syndrome 9 [RCV003755088]likely benign145020426450204264Human1name
405141175CV2956285single nucleotide variantNM_006939.4(SOS2):c.214-20G>TNoonan syndrome 9 [RCV003755312]likely benign145020110450201104Human1name
405141444CV2967394single nucleotide variantNM_006939.4(SOS2):c.2958+9T>CNoonan syndrome 9 [RCV003755344]likely benign145013860350138603Human1name
405141314CV2973645single nucleotide variantNM_006939.4(SOS2):c.3076-8T>CNoonan syndrome 9 [RCV003755330]likely benign145013077050130770Human1name
405141334CV2973760single nucleotide variantNM_006939.4(SOS2):c.1935-6T>CNoonan syndrome 9 [RCV003755332]likely benign145015712750157127Human1name
405143066CV2978350deletionNM_006939.4(SOS2):c.3489+8delNoonan syndrome 9 [RCV003755530]likely benign145012026750120267Human1name
405143076CV2978351duplicationNM_006939.4(SOS2):c.3489+4dupNoonan syndrome 9 [RCV003755531]uncertain significance145012027050120271Human1name
405145362CV3005434single nucleotide variantNM_006939.4(SOS2):c.859-19T>ANoonan syndrome 9 [RCV003755776]likely benign145018070150180701Human1name
405146455CV3025129deletionNM_006939.4(SOS2):c.510+16delNoonan syndrome 9 [RCV003755890]likely benign145019967550199675Human1name
405147073CV3028408single nucleotide variantNM_006939.4(SOS2):c.2162-6T>ANoonan syndrome 9 [RCV003755885]likely benign145015023650150236Human1name
405148781CV3037038single nucleotide variantNM_006939.4(SOS2):c.2786-1G>ANoonan syndrome 9 [RCV003756117]uncertain significance145013878550138785Human1name
405149641CV3044252single nucleotide variantNM_006939.4(SOS2):c.3379+7A>GNoonan syndrome 9 [RCV003756205]likely benign145012995450129954Human1name
405150509CV3049453single nucleotide variantNM_006939.4(SOS2):c.1852+4T>CNoonan syndrome 9 [RCV003756287]uncertain significance145015942750159427Human1name
405150938CV3055334single nucleotide variantNM_006939.4(SOS2):c.2385-4A>GNoonan syndrome 9 [RCV003756246]likely benign145014560050145600Human1name
405151585CV3056128single nucleotide variantNM_006939.4(SOS2):c.511-16G>ANoonan syndrome 9 [RCV003756274]likely benign145018871650188716Human1name
405153473CV3071070single nucleotide variantNM_006939.4(SOS2):c.1852+6T>CNoonan syndrome 9 [RCV003756540]uncertain significance145015942550159425Human1name
405113252CV3133609single nucleotide variantNM_006939.4(SOS2):c.346-11T>CNoonan syndrome 9 [RCV003836402]likely benign145019986650199866Human1name
405134495CV3133912single nucleotide variantNM_006939.4(SOS2):c.511-17T>ANoonan syndrome 9 [RCV003838691]likely benign145018871750188717Human1name
405207629CV3145586single nucleotide variantNM_006939.4(SOS2):c.1196+7C>TNoonan syndrome 9 [RCV003845316]likely benign145016147550161475Human1name
405077604CV3156276single nucleotide variantNM_006939.4(SOS2):c.2959-4C>ANoonan syndrome 9 [RCV003851334]likely benign145013424350134243Human1name
405268280CV3198844single nucleotide variantNM_006939.4(SOS2):c.2786-4C>ASOS2-related disorder [RCV003911963]likely benign145013878850138788Humanname , trait , alternate_id
408392916CV3525396single nucleotide variantNM_006939.4(SOS2):c.3380-2A>Cnot provided [RCV004771282]uncertain significance145012038650120386Humanname
12840690CV373101single nucleotide variantNM_006939.4(SOS2):c.3075+7C>TNoonan syndrome 9 [RCV001086199]|Noonan syndrome and Noonan-related syndrome [RCV001813478]|not provided [RCV000589301]|not specified [RCV001706634]benign145013411650134116Human1name
12845381CV373104single nucleotide variantNM_006939.4(SOS2):c.2162-4C>ACardiovascular phenotype [RCV002429417]|Noonan syndrome 9 [RCV001084628]|Noonan syndrome and Noonan-related syndrome [RCV001813482]|not provided [RCV000590342]benign145015023450150234Human1name
597904752CV3742007single nucleotide variantNM_006939.4(SOS2):c.714+19T>GNoonan syndrome 9 [RCV005072791]likely benign145018847850188478Human1name
597840067CV3756026single nucleotide variantNM_006939.4(SOS2):c.969+13T>CNoonan syndrome 9 [RCV005086298]likely benign145018055950180559Human1name
597920621CV3781280single nucleotide variantNM_006939.4(SOS2):c.2161+5A>GNoonan syndrome 9 [RCV005130162]uncertain significance145015306550153065Human1name
597920686CV3781289single nucleotide variantNM_006939.4(SOS2):c.1935-3T>ANoonan syndrome 9 [RCV005130171]uncertain significance145015712450157124Human1name
597881889CV3783843single nucleotide variantNM_006939.4(SOS2):c.213+13T>CNoonan syndrome 9 [RCV005124339]likely benign145020427150204271Human1name
597928308CV3788800single nucleotide variantNM_006939.4(SOS2):c.2505-8G>TNoonan syndrome 9 [RCV005131279]likely benign145014534050145340Human1name
597932935CV3789884single nucleotide variantNM_006939.4(SOS2):c.714+14T>ANoonan syndrome 9 [RCV005131963]likely benign145018848350188483Human1name
597973975CV3801666single nucleotide variantNM_006939.4(SOS2):c.969+20T>CNoonan syndrome 9 [RCV005143655]likely benign145018055250180552Human1name
597882328CV3803113single nucleotide variantNM_006939.4(SOS2):c.2058-1G>ANoonan syndrome 9 [RCV005149964]uncertain significance145015317450153174Human1name
597937029CV3807762single nucleotide variantNM_006939.4(SOS2):c.3076-5C>TNoonan syndrome 9 [RCV005158141]likely benign145013076750130767Human1name
597950308CV3818958single nucleotide variantNM_006939.4(SOS2):c.858+17A>GNoonan syndrome 9 [RCV005161028]likely benign145018244650182446Human1name
597832930CV3831404single nucleotide variantNM_006939.4(SOS2):c.715-20C>GNoonan syndrome 9 [RCV005170607]uncertain significance145018262650182626Human1name
597915168CV3834024single nucleotide variantNM_006939.4(SOS2):c.345+11A>GNoonan syndrome 9 [RCV005183383]likely benign145020094250200942Human1name
597872924CV3836178duplicationNM_006939.4(SOS2):c.1197-5dupNoonan syndrome 9 [RCV005176975]benign145016009050160091Human1name
597939398CV3836437single nucleotide variantNM_006939.4(SOS2):c.3489+9C>TNoonan syndrome 9 [RCV005187458]likely benign145012026650120266Human1name
597964784CV3837791deletionNM_006939.4(SOS2):c.1069-5delNoonan syndrome 9 [RCV005193774]likely benign145016161450161614Human1name
597856584CV3849738single nucleotide variantNM_006939.4(SOS2):c.213+16T>CNoonan syndrome 9 [RCV005195247]likely benign145020426850204268Human1name
598125026CV3885539single nucleotide variantNM_006939.4(SOS2):c.970-19A>Tnot specified [RCV005240117]likely benign145017457150174571Humanname
13471349CV464279single nucleotide variantNM_006939.4(SOS2):c.2384+5A>GNoonan syndrome 9 [RCV000546804]|SOS2-related disorder [RCV003962606]likely benign|uncertain significance145015000350150003Human1name , alternate_id
13521640CV487796single nucleotide variantNM_006939.4(SOS2):c.213+18A>TNoonan syndrome 9 [RCV002065136]|not provided [RCV000589583]|not specified [RCV000602142]benign145020426650204266Human1name
13537813CV504564single nucleotide variantNM_006939.4(SOS2):c.969+20T>GNoonan syndrome 9 [RCV002062910]|not specified [RCV000610927]likely benign145018055250180552Human1name
13538143CV504781single nucleotide variantNM_006939.4(SOS2):c.970-19A>GNoonan syndrome 9 [RCV002062816]|not specified [RCV000611398]benign145017457150174571Human1name
13532207CV505464single nucleotide variantNM_006939.4(SOS2):c.346-10C>GNoonan syndrome 9 [RCV000876894]|not specified [RCV000601292]benign145019986550199865Human1name
13624913CV528183single nucleotide variantNM_006939.4(SOS2):c.3338-4A>GNoonan syndrome 9 [RCV000652812]uncertain significance145013000650130006Human1name
13624992CV528667single nucleotide variantNM_006939.4(SOS2):c.859-10A>TNoonan syndrome 9 [RCV000652826]|not specified [RCV003403502]benign|likely benign145018069250180692Human1name
13797660CV552770single nucleotide variantNM_006939.4(SOS2):c.3379+1G>Cnot provided [RCV000681358]uncertain significance145012996050129960Humanname
13796875CV552812single nucleotide variantNM_006939.4(SOS2):c.970-77A>Cnot provided [RCV000680859]benign145017462950174629Humanname
13797142CV552816single nucleotide variantNM_006939.4(SOS2):c.859-66C>Gnot provided [RCV000680983]likely benign145018074850180748Humanname
13797047CV552817single nucleotide variantNM_006939.4(SOS2):c.859-90C>Tnot provided [RCV000680925]benign145018077250180772Humanname
13797048CV552822single nucleotide variantNM_006939.4(SOS2):c.858+93G>Anot provided [RCV000680926]benign145018237050182370Humanname
13797104CV552823single nucleotide variantNM_006939.4(SOS2):c.858+40A>Gnot provided [RCV000680964]likely benign145018242350182423Humanname
13797125CV552826single nucleotide variantNM_006939.4(SOS2):c.714+95G>Anot provided [RCV000680974]likely benign145018840250188402Humanname
13797139CV552829single nucleotide variantNM_006939.4(SOS2):c.511-81G>Anot provided [RCV000680981]likely benign145018878150188781Humanname
13797013CV552835single nucleotide variantNM_006939.4(SOS2):c.213+37C>GNoonan syndrome 9 [RCV001809742]|not provided [RCV000680847]benign145020424750204247Human1name
13797205CV552836single nucleotide variantNM_006939.4(SOS2):c.88-142C>Anot provided [RCV000681021]likely benign145020455150204551Humanname
15141308CV695619deletionNM_006939.4(SOS2):c.3490-4delCardiovascular phenotype [RCV003169210]|Noonan syndrome 9 [RCV000877651]|Noonan syndrome and Noonan-related syndrome [RCV001813566]|SOS2-related disorder [RCV003920462]|not provided [RCV001547311]|not specified [RCV001193054]benign|likely benign145011885750118857Human1name , alternate_id
15143508CV695620single nucleotide variantNM_006939.4(SOS2):c.2786-6T>ANoonan syndrome 9 [RCV000878065]|SOS2-related disorder [RCV003908355]likely benign145013879050138790Human1name , alternate_id
15202870CV760299single nucleotide variantNM_006939.4(SOS2):c.2959-4C>Gnot provided [RCV000913587]likely benign145013424350134243Humanname
15103078CV776002single nucleotide variantNM_006939.4(SOS2):c.2786-6T>Cnot provided [RCV000937121]likely benign145013879050138790Humanname
15181327CV778063single nucleotide variantNM_006939.4(SOS2):c.2786-4C>Tnot provided [RCV000951949]likely benign145013878850138788Humanname
15142717CV779721single nucleotide variantNM_006939.4(SOS2):c.2668-4T>CNoonan syndrome 9 [RCV001511124]|SOS2-related disorder [RCV003928413]benign|likely benign145014006350140063Human1name , alternate_id
26912705CV852741single nucleotide variantNM_006939.4(SOS2):c.3076-3C>TNoonan syndrome 9 [RCV001039584]uncertain significance145013076550130765Human1name
34892061CV915086deletionNM_006939.4(SOS2):c.2786-6delNoonan syndrome 9 [RCV001515860]|not provided [RCV001712867]|not specified [RCV001175492]benign145013879050138790Human1name
34896305CV917523single nucleotide variantNM_006939.4(SOS2):c.3337+4A>GNoonan syndrome 9 [RCV001876254]|not specified [RCV001193659]uncertain significance145013049750130497Human1name
38469835CV921509single nucleotide variantNM_006939.4(SOS2):c.970-14T>ANoonan syndrome 9 [RCV005057086]|not specified [RCV001201199]likely benign|uncertain significance145017456650174566Human1name
38472154CV940303single nucleotide variantNM_006939.4(SOS2):c.3338-6C>GNoonan syndrome 9 [RCV001203051]likely benign|uncertain significance145013000850130008Human1name
38487412CV941061single nucleotide variantNM_006939.4(SOS2):c.2385-3T>CNoonan syndrome 9 [RCV001220723]uncertain significance145014559950145599Human1name
126746418CV1015379single nucleotide variantNM_006939.4(SOS2):c.2959-20T>GNoonan syndrome 9 [RCV003591855]|not specified [RCV001328462]likely benign|uncertain significance145013425950134259Human1name
127278838CV1102320single nucleotide variantNM_006939.4(SOS2):c.1853-10G>ANoonan syndrome 9 [RCV001445357]likely benign145015865650158656Human1name
127298095CV1123766single nucleotide variantNM_006939.4(SOS2):c.2058-10A>GNoonan syndrome 9 [RCV001477822]|SOS2-related disorder [RCV003900651]likely benign145015318350153183Human1name , alternate_id
150335747CV1172588single nucleotide variantNM_006939.4(SOS2):c.3338-80C>Tnot provided [RCV001540692]likely benign145013008250130082Humanname
150330860CV1172589single nucleotide variantNM_006939.4(SOS2):c.2786-69C>Tnot provided [RCV001538328]benign145013885350138853Humanname
150422981CV1181166single nucleotide variantNM_006939.4(SOS2):c.2504+46A>Gnot provided [RCV001553391]likely benign145014543150145431Humanname
150416412CV1181167single nucleotide variantNM_006939.4(SOS2):c.1935-31C>Tnot provided [RCV001549615]likely benign145015715250157152Humanname
150422971CV1181169single nucleotide variantNM_006939.4(SOS2):c.858+179T>Gnot provided [RCV001553374]likely benign145018228450182284Humanname
150408882CV1182261single nucleotide variantNM_006939.4(SOS2):c.3076-17A>TNoonan syndrome 9 [RCV002072068]|not specified [RCV001553658]benign|likely benign145013077950130779Human1name
150426141CV1184890single nucleotide variantNM_006939.4(SOS2):c.859-230C>Gnot provided [RCV001558964]likely benign145018091250180912Humanname
150426802CV1188124single nucleotide variantNM_006939.4(SOS2):c.3380-43T>Cnot provided [RCV001560043]likely benign145012042750120427Humanname
150415817CV1191584single nucleotide variantNM_006939.4(SOS2):c.1853-49A>Gnot provided [RCV001568152]likely benign145015869550158695Humanname
150418961CV1198537single nucleotide variantNM_006939.4(SOS2):c.3490-56T>Anot provided [RCV001576966]likely benign145011890950118909Humanname
150457466CV1202624single nucleotide variantNM_006939.4(SOS2):c.1196+28T>Cnot provided [RCV001586277]likely benign145016145450161454Humanname
150430800CV1204012single nucleotide variantNM_006939.4(SOS2):c.214-177C>Tnot provided [RCV001580787]likely benign145020126150201261Humanname
150507002CV1211065single nucleotide variantNM_006939.4(SOS2):c.2057+32T>Cnot provided [RCV001596183]benign145015696750156967Humanname
150463970CV1214860single nucleotide variantNM_006939.4(SOS2):c.858+252C>Anot provided [RCV001613856]benign145018221150182211Humanname
150473632CV1217662single nucleotide variantNM_006939.4(SOS2):c.3380-52A>Gnot provided [RCV001615673]benign145012043650120436Humanname
150501164CV1223642single nucleotide variantNM_006939.4(SOS2):c.2504+48G>Cnot provided [RCV001620763]benign145014542950145429Humanname
150516060CV1227756single nucleotide variantNM_006939.4(SOS2):c.2785+34G>Tnot provided [RCV001639031]benign145013990850139908Humanname
150437784CV1237927single nucleotide variantNM_006939.4(SOS2):c.1853-40A>Tnot provided [RCV001644425]benign145015868650158686Humanname
150433709CV1243769single nucleotide variantNM_006939.4(SOS2):c.859-296T>Anot provided [RCV001664975]likely benign145018097850180978Humanname
150466558CV1255759single nucleotide variantNM_006939.4(SOS2):c.2057+38C>TNoonan syndrome 9 [RCV001810222]|not provided [RCV001670393]benign145015696150156961Human1name
150493532CV1257574duplicationNM_006939.4(SOS2):c.2958+51dupnot provided [RCV001675247]benign145013854950138550Humanname
150483888CV1263065deletionNM_006939.4(SOS2):c.213+192delnot provided [RCV001686465]benign145020409250204092Humanname
150449899CV1275733single nucleotide variantNM_006939.4(SOS2):c.2057+48C>Tnot provided [RCV001708188]benign145015695150156951Humanname
150444589CV1288044single nucleotide variantNM_006939.4(SOS2):c.2057+34T>CNoonan syndrome 9 [RCV001810299]|not provided [RCV001725766]benign145015696550156965Human1name
150444594CV1288045single nucleotide variantNM_006939.4(SOS2):c.2057+60C>Tnot provided [RCV001725767]benign145015693950156939Humanname
150534935CV1311699single nucleotide variantNM_006939.4(SOS2):c.2959-16A>GNoonan syndrome 9 [RCV002074069]|not specified [RCV001779509]benign|likely benign145013425550134255Human1name
150535558CV1311929single nucleotide variantNM_006939.4(SOS2):c.1853-31A>Gnot provided [RCV001779739]benign145015867750158677Humanname
152046578CV1519639single nucleotide variantNM_006939.4(SOS2):c.1068+20T>CNoonan syndrome 9 [RCV002145151]likely benign145017443450174434Human1name
152075510CV1528155single nucleotide variantNM_006939.4(SOS2):c.1852+18C>GNoonan syndrome 9 [RCV002112046]likely benign145015941350159413Human1name
152084056CV1533402single nucleotide variantNM_006939.4(SOS2):c.3380-16T>ANoonan syndrome 9 [RCV002093233]likely benign145012040050120400Human1name
152070099CV1535173deletionNM_006939.4(SOS2):c.2161+19delNoonan syndrome 9 [RCV002111331]likely benign145015305150153051Human1name
152064550CV1535822single nucleotide variantNM_006939.4(SOS2):c.3075+19C>TNoonan syndrome 9 [RCV002168453]|not specified [RCV004526914]benign|likely benign145013410450134104Human1name
152158342CV1541979single nucleotide variantNM_006939.4(SOS2):c.1934+13T>CNoonan syndrome 9 [RCV002103306]likely benign145015855250158552Human1name
152063148CV1542245single nucleotide variantNM_006939.4(SOS2):c.3076-12T>CNoonan syndrome 9 [RCV002208945]likely benign145013077450130774Human1name
152084457CV1554900deletionNM_006939.4(SOS2):c.3338-14delNoonan syndrome 9 [RCV002211855]benign145013001650130016Human1name
152133150CV1557425single nucleotide variantNM_006939.4(SOS2):c.1934+11T>CNoonan syndrome 9 [RCV002137198]likely benign145015855450158554Human1name
152155783CV1561022deletionNM_006939.4(SOS2):c.2161+16delNoonan syndrome 9 [RCV002102909]likely benign145015305450153054Human1name
152031366CV1561147single nucleotide variantNM_006939.4(SOS2):c.1196+16T>ANoonan syndrome 9 [RCV002106137]likely benign145016146650161466Human1name
152139319CV1562795single nucleotide variantNM_006939.4(SOS2):c.3490-14C>TNoonan syndrome 9 [RCV002100548]likely benign145011886750118867Human1name
152096869CV1566109single nucleotide variantNM_006939.4(SOS2):c.1935-13C>GNoonan syndrome 9 [RCV002094961]likely benign145015713450157134Human1name
152174618CV1567351single nucleotide variantNM_006939.4(SOS2):c.3380-15C>GNoonan syndrome 9 [RCV002163217]likely benign145012039950120399Human1name
152050788CV1569122single nucleotide variantNM_006939.4(SOS2):c.2057+15T>ANoonan syndrome 9 [RCV002207496]likely benign145015698450156984Human1name
152163926CV1575542single nucleotide variantNM_006939.4(SOS2):c.3075+13T>CNoonan syndrome 9 [RCV002181434]likely benign145013411050134110Human1name
152082525CV1589596single nucleotide variantNM_006939.4(SOS2):c.3076-20A>TNoonan syndrome 9 [RCV002112947]likely benign145013078250130782Human1name
152072010CV1591730deletionNM_006939.4(SOS2):c.3380-10delNoonan syndrome 9 [RCV002210101]benign145012039450120394Human1name
152076618CV1591909single nucleotide variantNM_006939.4(SOS2):c.2385-12T>CNoonan syndrome 9 [RCV002112191]likely benign145014560850145608Human1name
152146060CV1599899single nucleotide variantNM_006939.4(SOS2):c.2058-16C>TNoonan syndrome 9 [RCV002138820]likely benign145015318950153189Human1name
152174672CV1602253single nucleotide variantNM_006939.4(SOS2):c.1935-16T>CNoonan syndrome 9 [RCV002144514]likely benign145015713750157137Human1name
152136084CV1624767single nucleotide variantNM_006939.4(SOS2):c.1069-10T>CNoonan syndrome 9 [RCV002177437]likely benign145016161950161619Human1name
152096654CV1627945single nucleotide variantNM_006939.4(SOS2):c.3337+20C>TNoonan syndrome 9 [RCV002195009]likely benign145013048150130481Human1name
152065460CV1641238deletionNM_006939.4(SOS2):c.3490-18delNoonan syndrome 9 [RCV002209267]likely benign145011887150118871Human1name
152072414CV1643752single nucleotide variantNM_006939.4(SOS2):c.2162-11T>CNoonan syndrome 9 [RCV002111635]likely benign145015024150150241Human1name
152151053CV1661815single nucleotide variantNM_006939.4(SOS2):c.1934+11T>GNoonan syndrome 9 [RCV002179453]likely benign145015855450158554Human1name
152174205CV1662563deletionNM_006939.4(SOS2):c.2057+20delNoonan syndrome 9 [RCV002163072]benign145015697950156979Human1name
152123380CV1664551single nucleotide variantNM_006939.4(SOS2):c.2162-16T>CNoonan syndrome 9 [RCV002154546]|not specified [RCV005058120]likely benign145015024650150246Human1name
152113597CV1665401single nucleotide variantNM_006939.4(SOS2):c.2668-10A>GNoonan syndrome 9 [RCV002097177]likely benign145014006950140069Human1name
152057644CV1670617single nucleotide variantNM_006939.4(SOS2):c.2161+32T>Cnot provided [RCV002226137]likely benign145015303850153038Humanname
153305642CV1688696single nucleotide variantNM_006939.4(SOS2):c.1934+12A>GNoonan syndrome 9 [RCV005095945]|not specified [RCV002266434]likely benign|uncertain significance145015855350158553Human1name
155266523CV1699091single nucleotide variantNM_006939.4(SOS2):c.1197-11G>Cnot specified [RCV002282886]uncertain significance145016009750160097Humanname
156386311CV1874986single nucleotide variantNM_006939.4(SOS2):c.2057+20T>GNoonan syndrome 9 [RCV003050887]likely benign145015697950156979Human1name
156146545CV1895158single nucleotide variantNM_006939.4(SOS2):c.1852+11C>TNoonan syndrome 9 [RCV003082400]likely benign145015942050159420Human1name
156181653CV1924493single nucleotide variantNM_006939.4(SOS2):c.3075+20G>ANoonan syndrome 9 [RCV002625060]likely benign145013410350134103Human1name
156373989CV1932966deletionNM_006939.4(SOS2):c.1934+19delNoonan syndrome 9 [RCV002633663]likely benign145015854650158546Human1name
156449566CV1941823single nucleotide variantNM_006939.4(SOS2):c.2504+15A>TNoonan syndrome 9 [RCV003121690]likely benign145014546250145462Human1name
156328219CV1956536single nucleotide variantNM_006939.4(SOS2):c.3337+10T>CNoonan syndrome 9 [RCV002579845]likely benign145013049150130491Human1name
156406295CV1963558single nucleotide variantNM_006939.4(SOS2):c.2668-20C>GNoonan syndrome 9 [RCV002585860]likely benign145014007950140079Human1name
156183859CV1964397single nucleotide variantNM_006939.4(SOS2):c.2668-19A>TNoonan syndrome 9 [RCV002574196]likely benign145014007850140078Human1name
156256777CV1981945single nucleotide variantNM_006939.4(SOS2):c.2667+16A>GNoonan syndrome 9 [RCV002646078]likely benign145014515450145154Human1name
156349778CV1985496single nucleotide variantNM_006939.4(SOS2):c.2161+16G>TNoonan syndrome 9 [RCV002631897]likely benign145015305450153054Human1name
155921688CV1991334single nucleotide variantNM_006939.4(SOS2):c.2057+12A>GNoonan syndrome 9 [RCV002614589]likely benign145015698750156987Human1name
156205076CV2004415single nucleotide variantNM_006939.4(SOS2):c.1197-20A>GNoonan syndrome 9 [RCV002666635]likely benign145016010650160106Human1name
156111355CV2008649single nucleotide variantNM_006939.4(SOS2):c.1068+15C>ANoonan syndrome 9 [RCV002695682]likely benign145017443950174439Human1name
156353630CV2011881single nucleotide variantNM_006939.4(SOS2):c.3379+11T>CNoonan syndrome 9 [RCV002720368]likely benign145012995050129950Human1name
156180002CV2023293single nucleotide variantNM_006939.4(SOS2):c.1068+11A>GNoonan syndrome 9 [RCV002765586]likely benign145017444350174443Human1name
156014582CV2061534duplicationNM_006939.4(SOS2):c.3490-14dupNoonan syndrome 9 [RCV002820306]likely benign145011886650118867Human1name
156015254CV2087024single nucleotide variantNM_006939.4(SOS2):c.1935-19C>ANoonan syndrome 9 [RCV002866322]likely benign145015714050157140Human1name
155981935CV2098119single nucleotide variantNM_006939.4(SOS2):c.2668-19A>GNoonan syndrome 9 [RCV002907750]likely benign145014007850140078Human1name
156100030CV2164276single nucleotide variantNM_006939.4(SOS2):c.2667+14T>CNoonan syndrome 9 [RCV003038547]likely benign145014515650145156Human1name
156067257CV2176150single nucleotide variantNM_006939.4(SOS2):c.2668-20C>TNoonan syndrome 9 [RCV003053605]likely benign145014007950140079Human1name
156129284CV2184931duplicationNM_006939.4(SOS2):c.3075+11dupNoonan syndrome 9 [RCV003039631]likely benign145013411150134112Human1name
156401498CV2191207single nucleotide variantNM_006939.4(SOS2):c.2785+14T>CNoonan syndrome 9 [RCV003052353]likely benign145013992850139928Human1name
156300516CV2191519single nucleotide variantNM_006939.4(SOS2):c.2786-13T>CNoonan syndrome 9 [RCV003061940]likely benign145013879750138797Human1name
329952239CV2668938single nucleotide variantNM_006939.4(SOS2):c.3076-19T>CNoonan syndrome 9 [RCV003779843]|not specified [RCV003231023]likely benign|uncertain significance145013078150130781Human1name
405053194CV2881652single nucleotide variantNM_006939.4(SOS2):c.3489+18A>GNoonan syndrome 9 [RCV003592977]likely benign145012025750120257Human1name
405055151CV2887211single nucleotide variantNM_006939.4(SOS2):c.2668-18A>GNoonan syndrome 9 [RCV003593227]likely benign145014007750140077Human1name
405051546CV2887530single nucleotide variantNM_006939.4(SOS2):c.3490-18A>GNoonan syndrome 9 [RCV003592901]likely benign145011887150118871Human1name
405054449CV2890016single nucleotide variantNM_006939.4(SOS2):c.1852+15T>CNoonan syndrome 9 [RCV003593166]likely benign145015941650159416Human1name
405056101CV2905076single nucleotide variantNM_006939.4(SOS2):c.3379+17T>CNoonan syndrome 9 [RCV003593306]likely benign145012994450129944Human1name
405042715CV2928838single nucleotide variantNM_006939.4(SOS2):c.2959-19G>TNoonan syndrome 9 [RCV003592113]likely benign145013425850134258Human1name
405142069CV2975424single nucleotide variantNM_006939.4(SOS2):c.2959-15T>CNoonan syndrome 9 [RCV003755416]likely benign145013425450134254Human1name
405143781CV2994411single nucleotide variantNM_006939.4(SOS2):c.2384+20G>TNoonan syndrome 9 [RCV003755599]likely benign145014998850149988Human1name
405145732CV3006174single nucleotide variantNM_006939.4(SOS2):c.2385-19C>TNoonan syndrome 9 [RCV003755817]likely benign145014561550145615Human1name
405147820CV3024541single nucleotide variantNM_006939.4(SOS2):c.2505-11G>ANoonan syndrome 9 [RCV003755998]likely benign145014534350145343Human1name
405149576CV3033784single nucleotide variantNM_006939.4(SOS2):c.2384+18A>GNoonan syndrome 9 [RCV003756089]uncertain significance145014999050149990Human1name
405149888CV3047964single nucleotide variantNM_006939.4(SOS2):c.3380-10T>CNoonan syndrome 9 [RCV003756230]likely benign145012039450120394Human1name
405152075CV3059143single nucleotide variantNM_006939.4(SOS2):c.2162-18T>CNoonan syndrome 9 [RCV003756424]likely benign145015024850150248Human1name
405154086CV3074877single nucleotide variantNM_006939.4(SOS2):c.2162-10C>GNoonan syndrome 9 [RCV003756592]likely benign145015024050150240Human1name
405153139CV3079054single nucleotide variantNM_006939.4(SOS2):c.2162-15G>ANoonan syndrome 9 [RCV003756514]likely benign145015024550150245Human1name
405215507CV3124586single nucleotide variantNM_006939.4(SOS2):c.2667+20T>GNoonan syndrome 9 [RCV003823948]likely benign145014515050145150Human1name
404978496CV3127423single nucleotide variantNM_006939.4(SOS2):c.2958+12C>TNoonan syndrome 9 [RCV003825647]likely benign145013860050138600Human1name
405068013CV3145175single nucleotide variantNM_006939.4(SOS2):c.2785+13A>TNoonan syndrome 9 [RCV003850757]likely benign145013992950139929Human1name
402469209CV3174699single nucleotide variantNM_006939.4(SOS2):c.2162-12T>CNoonan syndrome 9 [RCV003873809]likely benign145015024250150242Human1name
405281458CV3224136single nucleotide variantNM_006939.4(SOS2):c.1069-12G>Anot specified [RCV003988518]likely benign145016162150161621Humanname
12835647CV373099single nucleotide variantNM_006939.4(SOS2):c.3490-18A>CNoonan syndrome 9 [RCV002058933]|not provided [RCV000587777]benign145011887150118871Human1name
597866001CV3742326single nucleotide variantNM_006939.4(SOS2):c.2785+16T>GNoonan syndrome 9 [RCV005067942]likely benign145013992650139926Human1name
597847476CV3746360single nucleotide variantNM_006939.4(SOS2):c.3489+14C>GNoonan syndrome 9 [RCV005060178]likely benign145012026150120261Human1name
597831192CV3750844single nucleotide variantNM_006939.4(SOS2):c.2786-18T>CNoonan syndrome 9 [RCV005084588]likely benign145013880250138802Human1name
597940172CV3757189single nucleotide variantNM_006939.4(SOS2):c.2161+15G>TNoonan syndrome 9 [RCV005077374]likely benign145015305550153055Human1name
597845026CV3761503single nucleotide variantNM_006939.4(SOS2):c.3076-10C>GNoonan syndrome 9 [RCV005087103]likely benign145013077250130772Human1name
597874321CV3766124single nucleotide variantNM_006939.4(SOS2):c.3075+14A>GNoonan syndrome 9 [RCV005108256]likely benign145013410950134109Human1name
597924711CV3772603single nucleotide variantNM_006939.4(SOS2):c.2785+12A>TNoonan syndrome 9 [RCV005115753]likely benign145013993050139930Human1name
597921713CV3777402single nucleotide variantNM_006939.4(SOS2):c.3489+15T>GNoonan syndrome 9 [RCV005130331]likely benign145012026050120260Human1name
597943003CV3780062single nucleotide variantNM_006939.4(SOS2):c.2058-13T>CNoonan syndrome 9 [RCV005119071]likely benign145015318650153186Human1name
597957592CV3814399single nucleotide variantNM_006939.4(SOS2):c.3075+10T>CNoonan syndrome 9 [RCV005162730]likely benign145013411350134113Human1name
597952977CV3815882single nucleotide variantNM_006939.4(SOS2):c.2057+12A>CNoonan syndrome 9 [RCV005161634]likely benign145015698750156987Human1name
597911553CV3816950single nucleotide variantNM_006939.4(SOS2):c.1852+14A>GNoonan syndrome 9 [RCV005154347]likely benign145015941750159417Human1name
597964264CV3830429single nucleotide variantNM_006939.4(SOS2):c.2667+13C>TNoonan syndrome 9 [RCV005164569]likely benign145014515750145157Human1name
597907293CV3842982single nucleotide variantNM_006939.4(SOS2):c.2785+16T>CNoonan syndrome 9 [RCV005182290]likely benign145013992650139926Human1name
597916521CV3845771single nucleotide variantNM_006939.4(SOS2):c.3489+17T>CNoonan syndrome 9 [RCV005183566]likely benign145012025850120258Human1name
597942975CV3847380single nucleotide variantNM_006939.4(SOS2):c.2162-10C>ANoonan syndrome 9 [RCV005188299]likely benign145015024050150240Human1name
597939393CV3852811single nucleotide variantNM_006939.4(SOS2):c.1852+19A>GNoonan syndrome 9 [RCV005187211]likely benign145015941250159412Human1name
598128182CV3883202single nucleotide variantNM_006939.4(SOS2):c.2958+12C>ANoonan syndrome 9 [RCV005234735]likely benign145013860050138600Human1name
13497973CV463287single nucleotide variantNM_006939.4(SOS2):c.2162-10C>TNoonan syndrome 9 [RCV000538946]|SOS2-related disorder [RCV003925721]|not provided [RCV001675932]|not specified [RCV001175095]benign|likely benign145015024050150240Human1name , alternate_id
13506330CV481139single nucleotide variantNM_006939.4(SOS2):c.2161+10A>GNoonan syndrome 9 [RCV000578097]|SOS2-related disorder [RCV003900291]likely benign|conflicting interpretations of pathogenicity|uncertain significance145015306050153060Human1name , alternate_id
13519704CV487780single nucleotide variantNM_006939.4(SOS2):c.3489+19C>TNoonan syndrome 9 [RCV002061987]|not provided [RCV000586388]|not specified [RCV000600372]benign|likely benign145012025650120256Human1name
13527077CV504550duplicationNM_006939.4(SOS2):c.2786-18dupNoonan syndrome 9 [RCV001518640]|not provided [RCV001704835]|not specified [RCV000604982]benign145013878950138790Human1name
13541934CV505456duplicationNM_006939.4(SOS2):c.3490-13dupNoonan syndrome 9 [RCV001515859]|Noonan syndrome and Noonan-related syndrome [RCV001813529]|not specified [RCV000616838]benign145011885650118857Human1name
13541724CV505462single nucleotide variantNM_006939.4(SOS2):c.2057+19T>ANoonan syndrome 9 [RCV002062174]|not specified [RCV000616553]benign|likely benign145015698050156980Human1name
13797151CV552776single nucleotide variantNM_006939.4(SOS2):c.3076-25C>Tnot provided [RCV000680989]likely benign145013078750130787Humanname
13796908CV552780single nucleotide variantNM_006939.4(SOS2):c.2959-38T>Anot provided [RCV000680872]benign145013427750134277Humanname
13797147CV552789single nucleotide variantNM_006939.4(SOS2):c.2785+44T>Cnot provided [RCV000680986]benign145013989850139898Humanname
13797146CV552790single nucleotide variantNM_006939.4(SOS2):c.2668-86C>Gnot provided [RCV000680985]likely benign145014014550140145Humanname
13797014CV552792single nucleotide variantNM_006939.4(SOS2):c.2667+43G>ANoonan syndrome 9 [RCV001809741]|not provided [RCV000680846]benign145014512750145127Human1name
13796891CV552793single nucleotide variantNM_006939.4(SOS2):c.2385-87A>Gnot provided [RCV000680865]benign145014568350145683Humanname
13797057CV552796single nucleotide variantNM_006939.4(SOS2):c.2058-36T>Cnot provided [RCV000680932]benign145015320950153209Humanname
13797157CV552797single nucleotide variantNM_006939.4(SOS2):c.2058-71G>Anot provided [RCV000680993]benign145015324450153244Humanname
13797055CV552804single nucleotide variantNM_006939.4(SOS2):c.1197-32G>ANoonan syndrome 9 [RCV001809743]|not provided [RCV000680930]benign145016011850160118Human1name
13797130CV552813single nucleotide variantNM_006939.4(SOS2):c.970-107T>Cnot provided [RCV000680976]benign145017465950174659Humanname
13796906CV552814single nucleotide variantNM_006939.4(SOS2):c.970-194C>Gnot provided [RCV000680871]benign145017474650174746Humanname
13797144CV552815single nucleotide variantNM_006939.4(SOS2):c.969+181G>Tnot provided [RCV000680984]likely benign145018039150180391Humanname
13797128CV552818single nucleotide variantNM_006939.4(SOS2):c.859-123A>Gnot provided [RCV000680975]benign145018080550180805Humanname
13797043CV552819single nucleotide variantNM_006939.4(SOS2):c.859-152G>Anot provided [RCV000680923]benign145018083450180834Humanname
13797579CV552820single nucleotide variantNM_006939.4(SOS2):c.859-259C>Tnot provided [RCV000681324]benign145018094150180941Humanname
13797578CV552824single nucleotide variantNM_006939.4(SOS2):c.714+294C>Tnot provided [RCV000681323]benign145018820350188203Humanname
13797494CV552825single nucleotide variantNM_006939.4(SOS2):c.714+266G>Anot provided [RCV000681264]benign145018823150188231Humanname
13796901CV552830single nucleotide variantNM_006939.4(SOS2):c.510+146G>Anot provided [RCV000680869]benign145019954550199545Humanname
13797124CV552831single nucleotide variantNM_006939.4(SOS2):c.346-194G>Cnot provided [RCV000680973]likely benign145020004950200049Humanname
13797039CV552832single nucleotide variantNM_006939.4(SOS2):c.345+145C>Tnot provided [RCV000680921]benign145020080850200808Humanname
13797573CV552834single nucleotide variantNM_006939.4(SOS2):c.214-265C>Tnot provided [RCV000681320]benign145020134950201349Humanname
34896304CV917524single nucleotide variantNM_006939.4(SOS2):c.2958+17C>TNoonan syndrome 9 [RCV002069231]|not specified [RCV001193658]likely benign|uncertain significance145013859550138595Human1name
34895858CV917525single nucleotide variantNM_006939.4(SOS2):c.2668-13T>CNoonan syndrome 9 [RCV002069212]|not specified [RCV001193056]benign145014007250140072Human1name
38598427CV963293single nucleotide variantNM_006939.4(SOS2):c.2959-20T>CNoonan syndrome 9 [RCV002069328]|not specified [RCV001251413]benign145013425950134259Human1name
40903216CV975822single nucleotide variantNM_006939.4(SOS2):c.1935-20C>GNoonan syndrome 9 [RCV002069388]|not specified [RCV001269092]benign145015714150157141Human1name
150332926CV1169588single nucleotide variantNM_006939.4(SOS2):c.1068+223C>Gnot provided [RCV001537077]likely benign145017423150174231Humanname
150335420CV1172591single nucleotide variantNM_006939.4(SOS2):c.1068+278T>Cnot provided [RCV001540554]likely benign145017417650174176Humanname
150427716CV1188125single nucleotide variantNM_006939.4(SOS2):c.2959-184C>Gnot provided [RCV001561296]likely benign145013442350134423Humanname
150405104CV1191580single nucleotide variantNM_006939.4(SOS2):c.2958+205G>Anot provided [RCV001564128]likely benign145013840750138407Humanname
150406989CV1191581single nucleotide variantNM_006939.4(SOS2):c.2785+164A>Tnot provided [RCV001564869]likely benign145013977850139778Humanname
150412323CV1191582duplicationNM_006939.4(SOS2):c.2162-349dupnot provided [RCV001566905]likely benign145015056450150565Humanname
150411398CV1191583single nucleotide variantNM_006939.4(SOS2):c.2058-267A>Cnot provided [RCV001566553]likely benign145015344050153440Humanname
150419699CV1194838single nucleotide variantNM_006939.4(SOS2):c.2668-143G>Anot provided [RCV001569796]likely benign145014020250140202Humanname
150418985CV1198538single nucleotide variantNM_006939.4(SOS2):c.3489+197G>Anot provided [RCV001576976]likely benign145012007850120078Humanname
150421756CV1198539single nucleotide variantNM_006939.4(SOS2):c.2384+165A>Gnot provided [RCV001578168]likely benign145014984350149843Humanname
150421149CV1198540single nucleotide variantNM_006939.4(SOS2):c.1935-328A>Cnot provided [RCV001577915]likely benign145015744950157449Humanname
150413859CV1198541duplicationNM_006939.4(SOS2):c.1852+230dupnot provided [RCV001574752]likely benign145015918950159190Humanname
150495293CV1204977deletionNM_006939.4(SOS2):c.1069-181delnot provided [RCV001593469]likely benign145016179050161790Humanname
150461202CV1205875single nucleotide variantNM_006939.4(SOS2):c.2057+144C>Tnot provided [RCV001586832]likely benign145015685550156855Humanname
150461470CV1206464deletionNM_006939.4(SOS2):c.3075+310delnot provided [RCV001586865]likely benign145013381350133813Humanname
150468996CV1207499single nucleotide variantNM_006939.4(SOS2):c.2958+255G>Anot provided [RCV001588188]likely benign145013835750138357Humanname
150481220CV1209750single nucleotide variantNM_006939.4(SOS2):c.3489+178A>Gnot provided [RCV001590447]likely benign145012009750120097Humanname
150513641CV1211344single nucleotide variantNM_006939.4(SOS2):c.2785+248A>Gnot provided [RCV001598532]likely benign145013969450139694Humanname
150503343CV1223729duplicationNM_006939.4(SOS2):c.1069-198dupnot provided [RCV001621378]benign145016178950161790Humanname
150435548CV1244442deletionNM_006939.4(SOS2):c.2161+105delnot provided [RCV001665433]benign145015296550152965Humanname
150445718CV1261245single nucleotide variantNM_006939.4(SOS2):c.3075+280A>Gnot provided [RCV001679919]benign145013384350133843Humanname
150476361CV1271324single nucleotide variantNM_006939.4(SOS2):c.1853-278G>Anot provided [RCV001696147]benign145015892450158924Humanname
150449668CV1273663duplicationNM_006939.4(SOS2):c.3075+142dupnot provided [RCV001691763]benign145013398050133981Humanname
150463739CV1276269single nucleotide variantNM_006939.4(SOS2):c.2959-298A>Cnot provided [RCV001710214]benign145013453750134537Humanname
150450655CV1276496deletionNM_006939.4(SOS2):c.2162-335delnot provided [RCV001708285]benign145015056550150565Humanname
150454714CV1277054duplicationNM_006939.4(SOS2):c.3075+143dupnot provided [RCV001708845]benign145013397250133973Humanname
150457240CV1278600single nucleotide variantNM_006939.4(SOS2):c.3380-338A>Gnot provided [RCV001709215]benign145012072250120722Humanname
153000660CV1684218single nucleotide variantNM_006939.4(SOS2):c.1853-194C>Tnot provided [RCV002255206]likely benign145015884050158840Humanname
153349583CV1693624single nucleotide variantNM_006939.4(SOS2):c.88-11010G>Cnot provided [RCV002275999]benign145021541950215419Humanname
13797582CV552768single nucleotide variantNM_006939.4(SOS2):c.3490-294T>Cnot provided [RCV000681327]benign145011914750119147Humanname
13797160CV552769single nucleotide variantNM_006939.4(SOS2):c.3380-239A>Gnot provided [RCV000680994]benign145012062350120623Humanname
13797085CV552771single nucleotide variantNM_006939.4(SOS2):c.3338-141G>Cnot provided [RCV000680955]likely benign145013014350130143Humanname
13797006CV552772single nucleotide variantNM_006939.4(SOS2):c.3338-142A>Gnot provided [RCV000680851]benign145013014450130144Humanname
13797132CV552773single nucleotide variantNM_006939.4(SOS2):c.3338-200T>Cnot provided [RCV000680977]likely benign145013020250130202Humanname
13797004CV552774single nucleotide variantNM_006939.4(SOS2):c.3337+207A>Gnot provided [RCV000680852]benign145013029450130294Humanname
13797748CV552777single nucleotide variantNM_006939.4(SOS2):c.3076-264G>Anot provided [RCV000681402]likely benign145013102650131026Humanname
13797715CV552778deletionNM_006939.4(SOS2):c.3075+278delnot provided [RCV000681383]likely benign145013384550133845Humanname
13797149CV552779single nucleotide variantNM_006939.4(SOS2):c.3075+131A>Gnot provided [RCV000680988]likely benign145013399250133992Humanname
13797063CV552781single nucleotide variantNM_006939.4(SOS2):c.2959-121G>Anot provided [RCV000680937]benign145013436050134360Humanname
13797708CV552782single nucleotide variantNM_006939.4(SOS2):c.2958+296G>Anot provided [RCV000681380]likely benign145013831650138316Humanname
13797707CV552783single nucleotide variantNM_006939.4(SOS2):c.2958+263G>Anot provided [RCV000681379]likely benign145013834950138349Humanname
13797148CV552784single nucleotide variantNM_006939.4(SOS2):c.2958+209G>Anot provided [RCV000680987]benign145013840350138403Humanname
13797077CV552785single nucleotide variantNM_006939.4(SOS2):c.2958+197G>Tnot provided [RCV000680948]likely benign145013841550138415Humanname
13797061CV552786single nucleotide variantNM_006939.4(SOS2):c.2958+172G>Anot provided [RCV000680935]benign145013844050138440Humanname
13797497CV552787single nucleotide variantNM_006939.4(SOS2):c.2785+276T>Cnot provided [RCV000681267]benign145013966650139666Humanname
13797062CV552788single nucleotide variantNM_006939.4(SOS2):c.2785+226A>Gnot provided [RCV000680936]benign145013971650139716Humanname
13796894CV552791single nucleotide variantNM_006939.4(SOS2):c.2668-120T>Cnot provided [RCV000680866]benign145014017950140179Humanname
13797060CV552794single nucleotide variantNM_006939.4(SOS2):c.2385-100G>Anot provided [RCV000680934]benign145014569650145696Humanname
13797059CV552795single nucleotide variantNM_006939.4(SOS2):c.2385-143G>Anot provided [RCV000680933]benign145014573950145739Humanname
13797724CV552798duplicationNM_006939.4(SOS2):c.2057+288dupnot provided [RCV000681387]benign145015670550156706Humanname
13797723CV552799single nucleotide variantNM_006939.4(SOS2):c.2057+273G>Anot provided [RCV000681386]benign145015672650156726Humanname
13797496CV552801single nucleotide variantNM_006939.4(SOS2):c.1852+285G>Anot provided [RCV000681266]benign145015914650159146Humanname
13797056CV552802single nucleotide variantNM_006939.4(SOS2):c.1852+174A>Gnot provided [RCV000680931]benign145015925750159257Humanname
13797581CV552806single nucleotide variantNM_006939.4(SOS2):c.1196+266C>Tnot provided [RCV000681326]benign145016121650161216Humanname
13797495CV552807single nucleotide variantNM_006939.4(SOS2):c.1196+252G>Anot provided [RCV000681265]benign145016123050161230Humanname
13797052CV552808single nucleotide variantNM_006939.4(SOS2):c.1069-154G>Tnot provided [RCV000680928]benign145016176350161763Humanname
13797156CV552811single nucleotide variantNM_006939.4(SOS2):c.1068+106T>Cnot provided [RCV000680992]benign145017434850174348Humanname
401915314CV2810409microsatelliteNM_006939.4(SOS2):c.2057+40TA[6]not provided [RCV003400585]benign145015695150156952Humanname
401929845CV2810410microsatelliteNM_006939.4(SOS2):c.2057+20TA[6]not provided [RCV003390395]benign145015696450156967Humanname
34891361CV906142duplicationNM_006939.4(SOS2):c.769_858+8dupnot specified [RCV001174994]uncertain significance145018245450182455Humanname
597876500CV3747868insertionNM_006939.4(SOS2):c.88-6_88-5insCNoonan syndrome 9 [RCV005069359]likely benign145020441450204415Human1name
13797580CV552809microsatelliteNM_006939.4(SOS2):c.1068+256TA[3]not provided [RCV000681325]benign145017418950174192Humanname
405143523CV2983431deletionNM_006939.4(SOS2):c.510+3_510+6delNoonan syndrome 9 [RCV003755576]uncertain significance145019968550199688Human1name
597858046CV3817014deletionNM_006939.4(SOS2):c.345+5_345+7delNoonan syndrome 9 [RCV005146395]uncertain significance145020094650200948Human1name
34891392CV906141duplicationNM_006939.4(SOS2):c.970-24_1037dupnot specified [RCV001175022]uncertain significance145017448450174485Humanname
156332320CV2075922deletionNM_006939.4(SOS2):c.346-10_346-8delNoonan syndrome 9 [RCV002835367]|not specified [RCV003111599]likely benign|uncertain significance145019986350199865Human1name
402482944CV3062204single nucleotide variantNM_006939.4(SOS2):c.15G>A (p.Pro5=)Noonan syndrome 9 [RCV003756415]likely benign145023126950231269Human1name
405153797CV3071721deletionNM_006939.4(SOS2):c.715-12_715-8delNoonan syndrome 9 [RCV003756568]uncertain significance145018261450182618Human1name
405680580CV3390467single nucleotide variantNM_006939.4(SOS2):c.24C>T (p.Tyr8=)Cardiovascular phenotype [RCV004517231]likely benign145023126050231260Humanname
597854761CV3762571single nucleotide variantNM_006939.4(SOS2):c.15G>T (p.Pro5=)not specified [RCV005088489]likely benign145023126950231269Humanname
34896299CV917526duplicationNM_006939.4(SOS2):c.2162-27_2231dupnot specified [RCV001193654]uncertain significance145015016050150161Humanname
126738341CV1021214deletionNM_006939.4(SOS2):c.3380-3_3380-2delNoonan syndrome 9 [RCV001335499]uncertain significance145012038650120387Human1name
150495408CV1225066deletionNM_006939.4(SOS2):c.969+38_969+39delnot provided [RCV001619544]benign145018053350180534Humanname
151233126CV1316981duplicationNM_006939.4(SOS2):c.969+36_969+38dupnot provided [RCV001786801]likely benign145018053350180534Humanname
151889901CV1343589microsatelliteNM_006939.4(SOS2):c.3379+4_3379+7delNoonan syndrome 9 [RCV001942907]|not specified [RCV004526881]uncertain significance145012995450129957Humanname
151820471CV1425374single nucleotide variantNM_006939.4(SOS2):c.36C>T (p.Ser12=)Cardiovascular phenotype [RCV003167254]|Noonan syndrome 9 [RCV001954707]benign|likely benign|uncertain significance145023124850231248Human1name
152095829CV1534128single nucleotide variantNM_006939.4(SOS2):c.84G>A (p.Arg28=)Noonan syndrome 9 [RCV002151192]likely benign145023120050231200Human1name
152114932CV1640875single nucleotide variantNM_006939.4(SOS2):c.63A>G (p.Gly21=)Cardiovascular phenotype [RCV002361508]|Noonan syndrome 9 [RCV002117053]|SOS2-related disorder [RCV003933398]|not provided [RCV004704729]|not specified [RCV004690246]likely benign145023122150231221Human1name , alternate_id
155696915CV1793909single nucleotide variantNM_006939.4(SOS2):c.39G>A (p.Glu13=)Cardiovascular phenotype [RCV002375633]likely benign145023124550231245Humanname
155669460CV1822080single nucleotide variantNM_006939.4(SOS2):c.66G>T (p.Leu22=)Cardiovascular phenotype [RCV002367152]likely benign145023121850231218Humanname
156115812CV1982492single nucleotide variantNM_006939.4(SOS2):c.67T>C (p.Leu23=)Noonan syndrome 9 [RCV002622753]likely benign145023121750231217Human1name
156043264CV2049836deletionNM_006939.4(SOS2):c.511-24_511-18delNoonan syndrome 9 [RCV002796515]likely benign145018871850188724Human1name
156127815CV2104262microsatelliteNM_006939.4(SOS2):c.346-21_346-17delNoonan syndrome 9 [RCV002914430]likely benign145019987250199876Humanname
156132567CV2118796microsatelliteNM_006939.4(SOS2):c.859-16_859-15delNoonan syndrome 9 [RCV002953934]likely benign145018069750180698Humanname
156321365CV2123820microsatelliteNM_006939.4(SOS2):c.715-15_715-12delNoonan syndrome 9 [RCV002963223]likely benign145018261850182621Humanname
156152451CV2175444single nucleotide variantNM_006939.4(SOS2):c.99A>G (p.Gln33=)Noonan syndrome 9 [RCV003040418]likely benign145020439850204398Human1name
402517907CV2868881single nucleotide variantNM_006939.4(SOS2):c.2T>C (p.Met1Thr)Noonan syndrome 9 [RCV003592744]uncertain significance145023128250231282Human1name
405050713CV2869489inversionNM_006939.4(SOS2):c.715-18_715-17invNoonan syndrome 9 [RCV003592822]uncertain significance145018262350182624Humanname
402482141CV2967078single nucleotide variantNM_006939.4(SOS2):c.72C>A (p.Val24=)Noonan syndrome 9 [RCV003755327]likely benign145023121250231212Human1name
405680612CV3390476single nucleotide variantNM_006939.4(SOS2):c.5A>T (p.Gln2Leu)Cardiovascular phenotype [RCV004517240]uncertain significance145023127950231279Humanname
597830395CV3735404deletionNM_006939.4(SOS2):c.2668-7_2668-3delNoonan syndrome 9 [RCV005055321]uncertain significance145014006250140066Human1name
597835981CV3739757insertionNM_006939.4(SOS2):c.87+11_87+12insCTNoonan syndrome 9 [RCV005063977]likely benign145023118550231186Human1name
597860731CV3860088single nucleotide variantNM_006939.4(SOS2):c.66G>A (p.Leu22=)Noonan syndrome 9 [RCV005195817]likely benign145023121850231218Human1name
13797045CV552827deletionNM_006939.4(SOS2):c.714+65_714+68delnot provided [RCV000680924]benign145018842950188432Humanname
150503905CV1257889insertionNM_006939.4(SOS2):c.969+39_969+40insTnot provided [RCV001677577]benign145018053250180533Humanname
151749831CV1512051single nucleotide variantNM_006939.4(SOS2):c.273A>G (p.Gln91=)Cardiovascular phenotype [RCV003170436]|Noonan syndrome 9 [RCV001986170]likely benign|uncertain significance145020102550201025Human1name
152092584CV1567806single nucleotide variantNM_006939.4(SOS2):c.156T>A (p.Ile52=)Noonan syndrome 9 [RCV002212932]likely benign145020434150204341Human1name
152162682CV1608972deletionNM_006939.4(SOS2):c.2959-12_2959-9delNoonan syndrome 9 [RCV002104098]likely benign145013424850134251Human1name
155732747CV1826484single nucleotide variantNM_006939.4(SOS2):c.135C>G (p.Leu45=)Cardiovascular phenotype [RCV002383441]likely benign145020436250204362Humanname
155987338CV1884118single nucleotide variantNM_006939.4(SOS2):c.237T>A (p.Pro79=)Noonan syndrome 9 [RCV003075947]likely benign145020106150201061Human1name
156104072CV2011738single nucleotide variantNM_006939.4(SOS2):c.252A>G (p.Lys84=)Noonan syndrome 9 [RCV002695414]likely benign145020104650201046Human1name
156234363CV2036309microsatelliteNM_006939.4(SOS2):c.2161+7_2161+11delNoonan syndrome 9 [RCV002805439]uncertain significance145015305950153063Humanname
155996831CV2045299single nucleotide variantNM_006939.4(SOS2):c.141T>C (p.Tyr47=)Noonan syndrome 9 [RCV002756003]likely benign145020435650204356Human1name
156109822CV2108190single nucleotide variantNM_006939.4(SOS2):c.288A>G (p.Lys96=)Noonan syndrome 9 [RCV002927378]likely benign145020101050201010Human1name
401795781CV2741979single nucleotide variantNM_006939.4(SOS2):c.105T>C (p.His35=)not specified [RCV003324155]likely benign145020439250204392Humanname
401859080CV2787417single nucleotide variantNM_006939.4(SOS2):c.129G>A (p.Glu43=)Cardiovascular phenotype [RCV003380193]|Noonan syndrome 9 [RCV003755035]likely benign145020436850204368Human1name
405692287CV2847046single nucleotide variantNM_006939.4(SOS2):c.26A>G (p.Glu9Gly)Male infertility due to gonadal dysgenesis or sperm disorder [RCV003991600]likely pathogenic145023125850231258Human1name
405042733CV2928869duplicationNM_006939.4(SOS2):c.2668-11_2668-9dupNoonan syndrome 9 [RCV003592115]likely benign145014006750140068Human1name
402482149CV2967311deletionNM_006939.4(SOS2):c.33del (p.Phe11fs)Noonan syndrome 9 [RCV003755342]uncertain significance145023125150231251Human1name
405141912CV2972130microsatelliteNM_006939.4(SOS2):c.1197-11_1197-8delNoonan syndrome 9 [RCV003755396]likely benign145016009450160097Humanname
402482528CV3006594single nucleotide variantNM_006939.4(SOS2):c.19C>A (p.Pro7Thr)Noonan syndrome 9 [RCV003755831]uncertain significance145023126550231265Human1name
402482688CV3035668single nucleotide variantNM_006939.4(SOS2):c.204A>G (p.Gln68=)Noonan syndrome 9 [RCV003756051]likely benign145020429350204293Human1name
402483040CV3071158single nucleotide variantNM_006939.4(SOS2):c.20C>G (p.Pro7Arg)Noonan syndrome 9 [RCV003756542]likely benign145023126450231264Human1name
407428155CV3412362single nucleotide variantNM_006939.4(SOS2):c.16C>T (p.Gln6Ter)not provided [RCV004593530]uncertain significance145023126850231268Humanname
407504620CV3485080single nucleotide variantNM_006939.4(SOS2):c.180C>T (p.Cys60=)Cardiovascular phenotype [RCV004670588]likely benign145020431750204317Humanname
597840015CV3737136single nucleotide variantNM_006939.4(SOS2):c.217C>A (p.Arg73=)Noonan syndrome 9 [RCV005064616]likely benign145020108150201081Human1name
597953370CV3795526single nucleotide variantNM_006939.4(SOS2):c.19C>T (p.Pro7Ser)Noonan syndrome 9 [RCV005136536]uncertain significance145023126550231265Human1name
597974640CV3802292single nucleotide variantNM_006939.4(SOS2):c.177A>G (p.Leu59=)Noonan syndrome 9 [RCV005144069]likely benign145020432050204320Human1name
597912040CV3807046single nucleotide variantNM_006939.4(SOS2):c.297A>C (p.Arg99=)Noonan syndrome 9 [RCV005154417]likely benign145020100150201001Human1name
13499317CV464126single nucleotide variantNM_006939.4(SOS2):c.147A>G (p.Glu49=)Cardiovascular phenotype [RCV002395476]|Noonan syndrome 9 [RCV000539761]likely benign145020435050204350Human1name
13535770CV505469single nucleotide variantNM_006939.4(SOS2):c.294A>G (p.Lys98=)Cardiovascular phenotype [RCV002438559]|Noonan syndrome 9 [RCV001431833]|Noonan syndrome and Noonan-related syndrome [RCV001813518]|not provided [RCV003884656]|not specified [RCV000608019]benign|likely benign145020100450201004Human1name
15127764CV693509single nucleotide variantNM_006939.4(SOS2):c.195G>A (p.Arg65=)Cardiovascular phenotype [RCV002416069]|Noonan syndrome 9 [RCV000875368]|not provided [RCV005243391]|not specified [RCV001420893]benign|likely benign145020430250204302Human1name
40813881CV969685single nucleotide variantNM_006939.4(SOS2):c.13C>G (p.Pro5Ala)Cardiovascular phenotype [RCV004994379]|Noonan syndrome 9 [RCV001880004]|Noonan syndrome [RCV001261117]likely benign|conflicting interpretations of pathogenicity|uncertain significance145023127150231271Human2name
127245412CV1080530single nucleotide variantNM_006939.4(SOS2):c.453T>C (p.Asn151=)Noonan syndrome 9 [RCV001393866]likely benign145019974850199748Human1name
127258083CV1080531single nucleotide variantNM_006939.4(SOS2):c.339G>A (p.Ser113=)Cardiovascular phenotype [RCV004671386]|Noonan syndrome 9 [RCV001401622]likely benign145020095950200959Human1name
127231676CV1087547single nucleotide variantNM_006939.4(SOS2):c.958C>T (p.Leu320=)Cardiovascular phenotype [RCV004681170]|Noonan syndrome 9 [RCV002554097]|not specified [RCV001420773]likely benign145018058350180583Human1name
127252128CV1102317duplicationNM_006939.4(SOS2):c.2786-18_2786-17dupNoonan syndrome 9 [RCV001436708]|Noonan syndrome and Noonan-related syndrome [RCV001813597]|SOS2-related disorder [RCV003965836]|not provided [RCV002070274]benign|likely benign145013878950138790Human1name , alternate_id
127325554CV1123770single nucleotide variantNM_006939.4(SOS2):c.894G>A (p.Gln298=)Noonan syndrome 9 [RCV001468543]likely benign145018064750180647Human1name
127331396CV1123771single nucleotide variantNM_006939.4(SOS2):c.753T>C (p.His251=)Noonan syndrome 9 [RCV001471527]likely benign145018256850182568Human1name
127317004CV1144624single nucleotide variantNM_006939.4(SOS2):c.340T>C (p.Leu114=)Noonan syndrome 9 [RCV001503233]likely benign145020095850200958Human1name
127312247CV1157262duplicationNM_006939.4(SOS2):c.3490-13_3490-11dupNoonan syndrome 9 [RCV001518884]|SOS2-related disorder [RCV003966118]benign|likely benign145011885650118857Human1name , alternate_id
150426305CV1188126insertionNM_006939.4(SOS2):c.969+39_969+40insTTnot provided [RCV001559401]likely benign145018053250180533Humanname
150468656CV1259528duplicationNM_006939.4(SOS2):c.2057+61_2057+62dupnot provided [RCV001683828]benign145015693650156937Humanname
150484445CV1263180deletionNM_006939.4(SOS2):c.2385-76_2385-74delnot provided [RCV001686580]benign145014567050145672Humanname
151352221CV1325161single nucleotide variantNM_006939.4(SOS2):c.74C>T (p.Ser25Leu)Noonan syndrome and Noonan-related syndrome [RCV001813717]uncertain significance145023121050231210Humanname
151829259CV1372141single nucleotide variantNM_006939.4(SOS2):c.504G>A (p.Ala168=)Cardiovascular phenotype [RCV003170075]|Noonan syndrome 9 [RCV001955516]likely benign|uncertain significance145019969750199697Human1name
151869934CV1454051single nucleotide variantNM_006939.4(SOS2):c.49C>T (p.Pro17Ser)Noonan syndrome 9 [RCV001925067]uncertain significance145023123550231235Human1name
152152738CV1529712single nucleotide variantNM_006939.4(SOS2):c.843T>C (p.Phe281=)Noonan syndrome 9 [RCV002202227]likely benign145018247850182478Human1name
152120828CV1547459single nucleotide variantNM_006939.4(SOS2):c.744A>G (p.Ser248=)Noonan syndrome 9 [RCV002081526]likely benign145018257750182577Human1name
152121779CV1570309single nucleotide variantNM_006939.4(SOS2):c.846A>G (p.Glu282=)Cardiovascular phenotype [RCV002443141]|Noonan syndrome 9 [RCV002216878]likely benign145018247550182475Human1name
152086614CV1599537single nucleotide variantNM_006939.4(SOS2):c.954T>A (p.Val318=)Cardiovascular phenotype [RCV003303760]|Noonan syndrome 9 [RCV002093572]|not specified [RCV005419345]likely benign145018058750180587Human1name
152095302CV1599622single nucleotide variantNM_006939.4(SOS2):c.430T>C (p.Leu144=)Noonan syndrome 9 [RCV002094757]likely benign145019977150199771Human1name
152131595CV1604532single nucleotide variantNM_006939.4(SOS2):c.405G>A (p.Glu135=)Noonan syndrome 9 [RCV002099562]likely benign145019979650199796Human1name
152140829CV1628836single nucleotide variantNM_006939.4(SOS2):c.927C>T (p.Phe309=)Cardiovascular phenotype [RCV004045814]|Noonan syndrome 9 [RCV002100751]likely benign145018061450180614Human1name
152108782CV1643672single nucleotide variantNM_006939.4(SOS2):c.693T>C (p.Asp231=)Noonan syndrome 9 [RCV002096555]|not provided [RCV003389899]likely benign|uncertain significance145018851850188518Human1name
152098458CV1650352microsatelliteNM_006939.4(SOS2):c.2384+16_2384+21delNoonan syndrome 9 [RCV002115012]likely benign145014998750149992Humanname
152036216CV1665067single nucleotide variantNM_006939.4(SOS2):c.642A>C (p.Leu214=)Noonan syndrome 9 [RCV002087249]likely benign145018856950188569Human1name
155730894CV1780916deletionNM_006939.4(SOS2):c.1068+17_1068+18delNoonan syndrome 9 [RCV005096127]|not specified [RCV002308706]likely benign|uncertain significance145017443650174437Human1name
155704990CV1787701single nucleotide variantNM_006939.4(SOS2):c.40G>A (p.Glu14Lys)Cardiovascular phenotype [RCV002323328]uncertain significance145023124450231244Humanname
155719075CV1788741single nucleotide variantNM_006939.4(SOS2):c.333T>C (p.His111=)Cardiovascular phenotype [RCV002326583]|Noonan syndrome 9 [RCV003099417]likely benign145020096550200965Human1name
155673068CV1792168single nucleotide variantNM_006939.4(SOS2):c.32T>A (p.Phe11Tyr)Cardiovascular phenotype [RCV002454687]uncertain significance145023125250231252Humanname
155727861CV1798193single nucleotide variantNM_006939.4(SOS2):c.444T>C (p.Tyr148=)Cardiovascular phenotype [RCV002328344]likely benign145019975750199757Humanname
155724121CV1799389single nucleotide variantNM_006939.4(SOS2):c.516G>A (p.Leu172=)Cardiovascular phenotype [RCV002338381]likely benign145018869550188695Humanname
155744023CV1803279single nucleotide variantNM_006939.4(SOS2):c.564A>G (p.Glu188=)Cardiovascular phenotype [RCV002345155]|Noonan syndrome 9 [RCV003096825]benign|likely benign145018864750188647Human1name
155746219CV1803476single nucleotide variantNM_006939.4(SOS2):c.567T>C (p.Asp189=)Cardiovascular phenotype [RCV002347425]|Noonan syndrome 9 [RCV003103212]likely benign145018864450188644Human1name
155688216CV1803812single nucleotide variantNM_006939.4(SOS2):c.594C>T (p.Asn198=)Cardiovascular phenotype [RCV002355966]likely benign145018861750188617Humanname
155698579CV1813219single nucleotide variantNM_006939.4(SOS2):c.757T>C (p.Leu253=)Cardiovascular phenotype [RCV002394118]|Noonan syndrome 9 [RCV003591945]|SOS2-related disorder [RCV003933766]likely benign145018256450182564Human1name , alternate_id
155663707CV1814335single nucleotide variantNM_006939.4(SOS2):c.83G>A (p.Arg28Gln)Cardiovascular phenotype [RCV002434902]|Noonan syndrome 9 [RCV003591946]uncertain significance145023120150231201Human1name
155721509CV1817280single nucleotide variantNM_006939.4(SOS2):c.864A>G (p.Gln288=)Cardiovascular phenotype [RCV002449625]|Noonan syndrome 9 [RCV003099995]likely benign145018067750180677Human1name
155670449CV1819184single nucleotide variantNM_006939.4(SOS2):c.70G>T (p.Val24Phe)Cardiovascular phenotype [RCV002367364]|not provided [RCV004774673]uncertain significance145023121450231214Humanname
155692001CV1821513single nucleotide variantNM_006939.4(SOS2):c.94G>A (p.Glu32Lys)Cardiovascular phenotype [RCV002374132]uncertain significance145020440350204403Humanname
155691268CV1825164single nucleotide variantNM_006939.4(SOS2):c.942C>G (p.Ala314=)Cardiovascular phenotype [RCV002373993]|Noonan syndrome 9 [RCV003754962]likely benign145018059950180599Human1name
156378575CV1876705single nucleotide variantNM_006939.4(SOS2):c.42G>T (p.Glu14Asp)Noonan syndrome 9 [RCV003066958]uncertain significance145023124250231242Human1name
156405327CV1893762single nucleotide variantNM_006939.4(SOS2):c.546T>A (p.Gly182=)Cardiovascular phenotype [RCV003377868]|Noonan syndrome 9 [RCV003069987]likely benign145018866550188665Human1name
156023103CV2043293single nucleotide variantNM_006939.4(SOS2):c.465T>C (p.Tyr155=)Noonan syndrome 9 [RCV002780751]likely benign145019973650199736Human1name
156322186CV2053803duplicationNM_006939.4(SOS2):c.2058-29_2058-10dupNoonan syndrome 9 [RCV002810153]likely benign145015318250153183Human1name
155986854CV2056156single nucleotide variantNM_006939.4(SOS2):c.852G>A (p.Leu284=)Noonan syndrome 9 [RCV002819020]likely benign145018246950182469Human1name
156224461CV2081027single nucleotide variantNM_006939.4(SOS2):c.381C>T (p.Ser127=)Noonan syndrome 9 [RCV002853334]likely benign145019982050199820Human1name
156102429CV2084228single nucleotide variantNM_006939.4(SOS2):c.609C>T (p.Val203=)Noonan syndrome 9 [RCV002848132]likely benign145018860250188602Human1name
156339485CV2092514microsatelliteNM_006939.4(SOS2):c.1069-16_1069-13delNoonan syndrome 9 [RCV002900393]likely benign145016162250161625Humanname
156202336CV2110106deletionNM_006939.4(SOS2):c.2384+10_2384+13delNoonan syndrome 9 [RCV002957426]likely benign145014999550149998Human1name
156066318CV2176033single nucleotide variantNM_006939.4(SOS2):c.934T>C (p.Leu312=)Noonan syndrome 9 [RCV003053577]benign145018060750180607Human1name
155998803CV2296121single nucleotide variantNM_006939.4(SOS2):c.50C>T (p.Pro17Leu)Cardiovascular phenotype [RCV004154054]uncertain significance145023123450231234Humanname
329349418CV2425525single nucleotide variantNM_006939.4(SOS2):c.807T>C (p.Asp269=)Cardiovascular phenotype [RCV003168235]likely benign145018251450182514Humanname
329349419CV2425526single nucleotide variantNM_006939.4(SOS2):c.636G>A (p.Gln212=)Cardiovascular phenotype [RCV003168236]likely benign145018857550188575Humanname
401859064CV2787412single nucleotide variantNM_006939.4(SOS2):c.609C>G (p.Val203=)Cardiovascular phenotype [RCV003380188]likely benign145018860250188602Humanname
402518039CV2870008single nucleotide variantNM_006939.4(SOS2):c.69G>C (p.Leu23Phe)Noonan syndrome 9 [RCV003592856]uncertain significance145023121550231215Human1name
405049035CV2871313deletionNM_006939.4(SOS2):c.2057+20_2057+22delNoonan syndrome 9 [RCV003592673]likely benign145015697750156979Human1name
402518001CV2876900single nucleotide variantNM_006939.4(SOS2):c.459G>A (p.Arg153=)Noonan syndrome 9 [RCV003592842]likely benign145019974250199742Human1name
402518244CV2893967single nucleotide variantNM_006939.4(SOS2):c.399A>T (p.Val133=)Cardiovascular phenotype [RCV005281424]|Noonan syndrome 9 [RCV003593258]likely benign145019980250199802Human1name
402518254CV2894009single nucleotide variantNM_006939.4(SOS2):c.489A>G (p.Lys163=)Noonan syndrome 9 [RCV003593261]likely benign145019971250199712Human1name
402516405CV2908874single nucleotide variantNM_006939.4(SOS2):c.849T>C (p.Asp283=)Noonan syndrome 9 [RCV003591412]likely benign145018247250182472Human1name
402482160CV2974852single nucleotide variantNM_006939.4(SOS2):c.348A>G (p.Glu116=)Noonan syndrome 9 [RCV003755366]likely benign145019985350199853Human1name
402482191CV2974980single nucleotide variantNM_006939.4(SOS2):c.708A>G (p.Lys236=)Cardiovascular phenotype [RCV004992698]|Noonan syndrome 9 [RCV003755388]likely benign145018850350188503Human1name
405142616CV2977277duplicationNM_006939.4(SOS2):c.3337+17_3337+18dupNoonan syndrome 9 [RCV003755479]likely benign145013048250130483Human1name
405143348CV2989424duplicationNM_006939.4(SOS2):c.1_20dup (p.Tyr8fs)Noonan syndrome 9 [RCV003755557]uncertain significance145023126350231264Human1name
402482533CV3013685single nucleotide variantNM_006939.4(SOS2):c.762T>A (p.Thr254=)Noonan syndrome 9 [RCV003755848]uncertain significance145018255950182559Human1name
405151337CV3045983insertionNM_006939.4(SOS2):c.3490-10_3490-9insCNoonan syndrome 9 [RCV003756270]likely benign145011886250118863Human1name
402482728CV3053325single nucleotide variantNM_006939.4(SOS2):c.483C>T (p.Asp161=)Noonan syndrome 9 [RCV003756156]likely benign145019971850199718Human1name
405151424CV3064626deletionNM_006939.4(SOS2):c.1069-14_1069-13delNoonan syndrome 9 [RCV003756369]likely benign145016162250161623Human1name
402482922CV3068238single nucleotide variantNM_006939.4(SOS2):c.375T>C (p.His125=)Cardiovascular phenotype [RCV004374168]|Noonan syndrome 9 [RCV003756363]likely benign145019982650199826Human1name
405137964CV3125417single nucleotide variantNM_006939.4(SOS2):c.330C>A (p.Ile110=)Cardiovascular phenotype [RCV004676295]|Noonan syndrome 9 [RCV003816524]likely benign145020096850200968Human1name
405680608CV3390475single nucleotide variantNM_006939.4(SOS2):c.37G>A (p.Glu13Lys)Cardiovascular phenotype [RCV004517239]uncertain significance145023124750231247Humanname
405680616CV3390477single nucleotide variantNM_006939.4(SOS2):c.606T>C (p.Leu202=)Cardiovascular phenotype [RCV004517241]likely benign145018860550188605Humanname
405680624CV3390479single nucleotide variantNM_006939.4(SOS2):c.825C>G (p.Pro275=)Cardiovascular phenotype [RCV004517243]|Noonan syndrome 9 [RCV005100555]likely benign145018249650182496Human1name
405680626CV3390480single nucleotide variantNM_006939.4(SOS2):c.82C>G (p.Arg28Gly)Cardiovascular phenotype [RCV004517244]uncertain significance145023120250231202Humanname
12847673CV373856single nucleotide variantNM_006939.4(SOS2):c.591A>G (p.Leu197=)Cardiovascular phenotype [RCV002356584]|Noonan syndrome 9 [RCV001001837]|Noonan syndrome and Noonan-related syndrome [RCV001813480]|not provided [RCV000589660]|not specified [RCV001195558]benign145018862050188620Human1name
597961544CV3795206single nucleotide variantNM_006939.4(SOS2):c.957T>C (p.Ala319=)Noonan syndrome 9 [RCV005138898]likely benign145018058450180584Human1name
597944650CV3847934single nucleotide variantNM_006939.4(SOS2):c.960A>G (p.Leu320=)Noonan syndrome 9 [RCV005188664]likely benign145018058150180581Human1name
597967388CV3855805single nucleotide variantNM_006939.4(SOS2):c.414A>G (p.Ser138=)Noonan syndrome 9 [RCV005194786]benign145019978750199787Human1name
597880917CV3857367single nucleotide variantNM_006939.4(SOS2):c.339G>C (p.Ser113=)Noonan syndrome 9 [RCV005198976]likely benign145020095950200959Human1name
12898916CV409127deletionNM_006939.4(SOS2):c.2057+19_2057+20delNoonan syndrome 9 [RCV001001955]|not provided [RCV000478993]|not specified [RCV001193653]benign|likely benign145015697950156980Human1name
13490225CV463291single nucleotide variantNM_006939.4(SOS2):c.600T>C (p.Tyr200=)Cardiovascular phenotype [RCV004024344]|Noonan syndrome 9 [RCV001416147]likely benign145018861150188611Human1name
13498967CV464125single nucleotide variantNM_006939.4(SOS2):c.621C>T (p.Ile207=)Cardiovascular phenotype [RCV002367953]|Noonan syndrome 9 [RCV000539531]|SOS2-related disorder [RCV003905466]|not provided [RCV004715299]|not specified [RCV001251287]benign|likely benign145018859050188590Human1name , alternate_id
13490672CV464275duplicationNM_006939.4(SOS2):c.3490-13_3490-12dupNoonan syndrome 9 [RCV000533674]|Noonan syndrome and Noonan-related syndrome [RCV001813499]|SOS2-related disorder [RCV003980031]|not specified [RCV000604410]benign145011885650118857Human1name , alternate_id
13488831CV464289single nucleotide variantNM_006939.4(SOS2):c.816T>C (p.Ser272=)Cardiovascular phenotype [RCV002431706]|Noonan syndrome 9 [RCV000532596]|Noonan syndrome and Noonan-related syndrome [RCV001813503]|not provided [RCV000588291]|not specified [RCV000600366]benign145018250550182505Human1name
13538870CV504567single nucleotide variantNM_006939.4(SOS2):c.804T>C (p.Thr268=)Cardiovascular phenotype [RCV002413740]|Noonan syndrome 9 [RCV001460391]|not specified [RCV000612473]likely benign145018251750182517Human1name
13530884CV504784single nucleotide variantNM_006939.4(SOS2):c.720C>T (p.Ile240=)Cardiovascular phenotype [RCV002377261]|Noonan syndrome 9 [RCV000873801]|SOS2-related disorder [RCV003945487]|not specified [RCV000600867]benign|likely benign145018260150182601Human1name , alternate_id
13541994CV504787single nucleotide variantNM_006939.4(SOS2):c.399A>G (p.Val133=)Cardiovascular phenotype [RCV002358734]|Noonan syndrome 9 [RCV002064324]|not specified [RCV000616922]likely benign145019980250199802Human1name
13540057CV504792single nucleotide variantNM_006939.4(SOS2):c.360C>T (p.Tyr120=)Cardiovascular phenotype [RCV002456385]|Noonan syndrome 9 [RCV002467939]|not specified [RCV000614163]likely benign145019984150199841Human1name
13527368CV505065single nucleotide variantNM_006939.4(SOS2):c.384A>G (p.Leu128=)Noonan syndrome 9 [RCV002529447]|not specified [RCV000599730]likely benign145019981750199817Human1name
13624984CV528198single nucleotide variantNM_006939.4(SOS2):c.837C>T (p.Ser279=)Cardiovascular phenotype [RCV002440370]|Noonan syndrome 9 [RCV000652824]|not provided [RCV003389824]likely benign145018248450182484Human1name
13797106CV552800deletionNM_006939.4(SOS2):c.1934+85_1934+88delnot provided [RCV000680965]likely benign145015847750158480Humanname
13803774CV572806single nucleotide variantNM_006939.4(SOS2):c.714T>G (p.Ser238=)Noonan syndrome 9 [RCV000685028]uncertain significance145018849750188497Human1name
14706539CV642480single nucleotide variantNM_006939.4(SOS2):c.432G>A (p.Leu144=)Cardiovascular phenotype [RCV002332581]|Noonan syndrome 9 [RCV000792030]likely benign|uncertain significance145019976950199769Human1name
15138666CV693504single nucleotide variantNM_006939.4(SOS2):c.702G>A (p.Leu234=)Cardiovascular phenotype [RCV002372495]|Noonan syndrome 9 [RCV000877195]|not provided [RCV004705857]|not specified [RCV001731965]benign|likely benign145018850950188509Human1name
15119622CV693505single nucleotide variantNM_006939.4(SOS2):c.700C>T (p.Leu234=)Cardiovascular phenotype [RCV002363287]|Noonan syndrome 9 [RCV000873915]|not provided [RCV001709695]|not specified [RCV002469311]benign145018851150188511Human1name
15139457CV693506single nucleotide variantNM_006939.4(SOS2):c.627A>G (p.Glu209=)Cardiovascular phenotype [RCV005278684]|Noonan syndrome 9 [RCV002064879]|SOS2-related disorder [RCV003920459]likely benign145018858450188584Human1name , alternate_id
15127529CV693507single nucleotide variantNM_006939.4(SOS2):c.399A>C (p.Val133=)Cardiovascular phenotype [RCV002320046]|Noonan syndrome 9 [RCV000875326]|Noonan syndrome and Noonan-related syndrome [RCV001813564]|SOS2-related disorder [RCV003955729]|not specified [RCV003387943]benign|likely benign145019980250199802Human1name , alternate_id
15134976CV693508single nucleotide variantNM_006939.4(SOS2):c.315G>T (p.Leu105=)Cardiovascular phenotype [RCV002320051]|Noonan syndrome 9 [RCV000876560]|not specified [RCV004526044]benign|likely benign145020098350200983Human1name
15152831CV702891single nucleotide variantNM_006939.4(SOS2):c.396T>C (p.Ala132=)Cardiovascular phenotype [RCV003169453]|Noonan syndrome 9 [RCV000945957]|not provided [RCV001593139]|not specified [RCV002222649]likely benign145019980550199805Human1name
15109686CV714141single nucleotide variantNM_006939.4(SOS2):c.540C>T (p.Asp180=)Cardiovascular phenotype [RCV002346166]|Noonan syndrome 9 [RCV002066374]|SOS2-related disorder [RCV003943103]|not specified [RCV004768751]likely benign145018867150188671Human1name , alternate_id
15200450CV725676single nucleotide variantNM_006939.4(SOS2):c.357G>A (p.Gly119=)Noonan syndrome 9 [RCV002065565]likely benign145019984450199844Human1name
34891271CV906032single nucleotide variantNM_006939.4(SOS2):c.813C>T (p.Ser271=)Noonan syndrome 9 [RCV001485596]|not specified [RCV001174922]likely benign145018250850182508Human1name
127235225CV1080527single nucleotide variantNM_006939.4(SOS2):c.2271A>G (p.Pro757=)Cardiovascular phenotype [RCV003169965]|Noonan syndrome 9 [RCV001396611]likely benign145015012150150121Human1name
127257935CV1080528single nucleotide variantNM_006939.4(SOS2):c.1515T>C (p.Thr505=)Noonan syndrome 9 [RCV001419447]likely benign145015976850159768Human1name
127249740CV1080529single nucleotide variantNM_006939.4(SOS2):c.1281C>T (p.Ile427=)Cardiovascular phenotype [RCV003298653]|Noonan syndrome 9 [RCV001399687]likely benign145016000250160002Human1name
127231677CV1087546single nucleotide variantNM_006939.4(SOS2):c.2190A>G (p.Ser730=)not specified [RCV001420774]likely benign145015020250150202Humanname
127250683CV1102318single nucleotide variantNM_006939.4(SOS2):c.2115C>T (p.Asp705=)Noonan syndrome 9 [RCV001436420]likely benign145015311650153116Human1name
127265461CV1102319single nucleotide variantNM_006939.4(SOS2):c.1989A>G (p.Lys663=)Cardiovascular phenotype [RCV002420994]|Noonan syndrome 9 [RCV001439956]|Noonan syndrome and Noonan-related syndrome [RCV001813598]likely benign|uncertain significance145015706750157067Human1name
127248775CV1102321single nucleotide variantNM_006939.4(SOS2):c.1815G>T (p.Val605=)Cardiovascular phenotype [RCV002414033]|Noonan syndrome 9 [RCV001435919]likely benign145015946850159468Human1name
127278165CV1102322single nucleotide variantNM_006939.4(SOS2):c.1669T>C (p.Leu557=)Cardiovascular phenotype [RCV002405043]|Noonan syndrome 9 [RCV001444862]likely benign145015961450159614Human1name
127310763CV1123765single nucleotide variantNM_006939.4(SOS2):c.2700C>T (p.Asp900=)Cardiovascular phenotype [RCV002432298]|Noonan syndrome 9 [RCV001463961]|not specified [RCV002271656]benign|likely benign145014002750140027Human1name
127293140CV1123767single nucleotide variantNM_006939.4(SOS2):c.1839T>C (p.Tyr613=)Cardiovascular phenotype [RCV002414082]|Noonan syndrome 9 [RCV001451905]likely benign145015944450159444Human1name
127291265CV1123768single nucleotide variantNM_006939.4(SOS2):c.1446T>C (p.Ser482=)Cardiovascular phenotype [RCV002396078]|Noonan syndrome 9 [RCV001458667]|not provided [RCV003394062]|not specified [RCV002298951]likely benign145015983750159837Human1name
127292742CV1144623single nucleotide variantNM_006939.4(SOS2):c.1884A>C (p.Thr628=)Noonan syndrome 9 [RCV001496548]likely benign145015861550158615Human1name
150546759CV1291646single nucleotide variantNM_006939.4(SOS2):c.2397G>A (p.Pro799=)Cardiovascular phenotype [RCV004040041]|Noonan syndrome 9 [RCV002073985]|SOS2-related disorder [RCV003976141]|not specified [RCV001733397]likely benign145014558450145584Human1name , alternate_id
151236264CV1319720single nucleotide variantNM_006939.4(SOS2):c.2061C>T (p.Ile687=)not specified [RCV001797925]likely benign145015317050153170Humanname
151351278CV1323807insertionNM_006939.4(SOS2):c.969+39_969+40insTTTnot provided [RCV001810353]likely benign145018053250180533Humanname
151732314CV1355588single nucleotide variantNM_006939.4(SOS2):c.244A>G (p.Ile82Val)Cardiovascular phenotype [RCV002443015]|Noonan syndrome 9 [RCV001984338]|SOS2-related disorder [RCV003402024]uncertain significance145020105450201054Human1name , alternate_id
151752708CV1379864single nucleotide variantNM_006939.4(SOS2):c.181A>G (p.Met61Val)Cardiovascular phenotype [RCV002407101]|Noonan syndrome 9 [RCV001948308]uncertain significance145020431650204316Human1name
151791741CV1399165single nucleotide variantNM_006939.4(SOS2):c.224A>G (p.Gln75Arg)Noonan syndrome 9 [RCV001898247]uncertain significance145020107450201074Human1name
151753115CV1407246single nucleotide variantNM_006939.4(SOS2):c.296G>A (p.Arg99Gln)Noonan syndrome 9 [RCV002023593]uncertain significance145020100250201002Human1name
151723770CV1436913single nucleotide variantNM_006939.4(SOS2):c.260T>C (p.Ile87Thr)Cardiovascular phenotype [RCV002441198]|Noonan syndrome 9 [RCV002004015]uncertain significance145020103850201038Human1name
151818756CV1449887single nucleotide variantNM_006939.4(SOS2):c.115T>A (p.Ser39Thr)Noonan syndrome 9 [RCV001879005]uncertain significance145020438250204382Human1name
151850526CV1465847single nucleotide variantNM_006939.4(SOS2):c.172A>G (p.Lys58Glu)Noonan syndrome 9 [RCV002033111]uncertain significance145020432550204325Human1name
151798098CV1467881single nucleotide variantNM_006939.4(SOS2):c.121A>G (p.Asn41Asp)Cardiovascular phenotype [RCV004041990]|Noonan syndrome 9 [RCV001952667]benign|uncertain significance145020437650204376Human1name
151784310CV1492022deletionNM_006939.4(SOS2):c.710del (p.Pro237fs)Noonan syndrome 9 [RCV002026561]uncertain significance145018850150188501Human1name
151791920CV1515531single nucleotide variantNM_006939.4(SOS2):c.137A>C (p.Tyr46Ser)Noonan syndrome 9 [RCV002027305]uncertain significance145020436050204360Human1name
152158470CV1542008single nucleotide variantNM_006939.4(SOS2):c.1356T>C (p.Gly452=)Cardiovascular phenotype [RCV002382346]|Noonan syndrome 9 [RCV002103330]likely benign145015992750159927Human1name
152164953CV1543657single nucleotide variantNM_006939.4(SOS2):c.2328A>T (p.Thr776=)Noonan syndrome 9 [RCV002123912]likely benign145015006450150064Human1name
152031056CV1548603single nucleotide variantNM_006939.4(SOS2):c.2388A>G (p.Lys796=)Noonan syndrome 9 [RCV002086278]likely benign145014559350145593Human1name
152108425CV1550793single nucleotide variantNM_006939.4(SOS2):c.2184A>C (p.Val728=)Cardiovascular phenotype [RCV002427666]|Noonan syndrome 9 [RCV002152720]likely benign145015020850150208Human1name
152125941CV1554157single nucleotide variantNM_006939.4(SOS2):c.2671C>T (p.Leu891=)Noonan syndrome 9 [RCV002098821]likely benign145014005650140056Human1name
152117487CV1556206single nucleotide variantNM_006939.4(SOS2):c.1458C>T (p.Tyr486=)Cardiovascular phenotype [RCV002391187]|Noonan syndrome 9 [RCV002216334]likely benign145015982550159825Human1name
152059179CV1559005single nucleotide variantNM_006939.4(SOS2):c.2049A>G (p.Val683=)Cardiovascular phenotype [RCV002423307]|Noonan syndrome 9 [RCV002167792]likely benign145015700750157007Human1name
152059332CV1559026single nucleotide variantNM_006939.4(SOS2):c.1584T>C (p.Ser528=)Cardiovascular phenotype [RCV002398156]|Noonan syndrome 9 [RCV002167809]likely benign145015969950159699Human1name
152104437CV1574784single nucleotide variantNM_006939.4(SOS2):c.2541G>A (p.Val847=)Noonan syndrome 9 [RCV002095961]likely benign145014529650145296Human1name
152065016CV1583319single nucleotide variantNM_006939.4(SOS2):c.1326C>T (p.Phe442=)Cardiovascular phenotype [RCV002382408]|Noonan syndrome 9 [RCV002110659]likely benign145015995750159957Human1name
152157119CV1586095single nucleotide variantNM_006939.4(SOS2):c.2118G>A (p.Leu706=)Noonan syndrome 9 [RCV002140291]likely benign145015311350153113Human1name
152171840CV1597836single nucleotide variantNM_006939.4(SOS2):c.1158C>T (p.Asp386=)Noonan syndrome 9 [RCV002162252]likely benign145016152050161520Human1name
152046253CV1600324single nucleotide variantNM_006939.4(SOS2):c.2253C>T (p.Thr751=)Cardiovascular phenotype [RCV002443161]|Noonan syndrome 9 [RCV002088582]likely benign145015013950150139Human1name
152027874CV1607480single nucleotide variantNM_006939.4(SOS2):c.1072T>C (p.Leu358=)Cardiovascular phenotype [RCV004990653]|Noonan syndrome 9 [RCV002105042]likely benign145016160650161606Human1name
152147226CV1609815single nucleotide variantNM_006939.4(SOS2):c.1125T>C (p.Ile375=)Cardiovascular phenotype [RCV004671638]|Noonan syndrome 9 [RCV002157618]likely benign145016155350161553Human1name
152080016CV1612627single nucleotide variantNM_006939.4(SOS2):c.1648C>A (p.Arg550=)Cardiovascular phenotype [RCV003303711]|Noonan syndrome 9 [RCV002170416]likely benign145015963550159635Human1name
152158125CV1616073single nucleotide variantNM_006939.4(SOS2):c.2356C>T (p.Leu786=)Noonan syndrome 9 [RCV002159145]likely benign145015003650150036Human1name
152043265CV1618181single nucleotide variantNM_006939.4(SOS2):c.1975T>C (p.Leu659=)Noonan syndrome 9 [RCV002206621]likely benign145015708150157081Human1name
152030466CV1622190single nucleotide variantNM_006939.4(SOS2):c.1024C>T (p.Leu342=)Cardiovascular phenotype [RCV002382462]|Noonan syndrome 9 [RCV002186474]likely benign145017449850174498Human1name
152052602CV1622676single nucleotide variantNM_006939.4(SOS2):c.1341A>G (p.Pro447=)Cardiovascular phenotype [RCV002382312]|Noonan syndrome 9 [RCV002207706]likely benign145015994250159942Human1name
152142801CV1636518single nucleotide variantNM_006939.4(SOS2):c.1716A>G (p.Val572=)Noonan syndrome 9 [RCV002120610]likely benign145015956750159567Human1name
152074983CV1638332single nucleotide variantNM_006939.4(SOS2):c.1491A>T (p.Ile497=)Noonan syndrome 9 [RCV002192290]likely benign145015979250159792Human1name
152028600CV1655313single nucleotide variantNM_006939.4(SOS2):c.2982C>T (p.Pro994=)Noonan syndrome 9 [RCV002105291]likely benign145013421650134216Human1name
152053325CV1659322single nucleotide variantNM_006939.4(SOS2):c.2322C>G (p.Leu774=)Noonan syndrome 9 [RCV002189676]likely benign145015007050150070Human1name
152166351CV1661254single nucleotide variantNM_006939.4(SOS2):c.2046A>G (p.Pro682=)Noonan syndrome 9 [RCV002124207]likely benign145015701050157010Human1name
152145138CV1661482single nucleotide variantNM_006939.4(SOS2):c.2916T>C (p.Tyr972=)Cardiovascular phenotype [RCV002441255]|Noonan syndrome 9 [RCV002157316]|SOS2-related disorder [RCV003893119]likely benign145013865450138654Human1name , alternate_id
152978384CV1671568single nucleotide variantNM_006939.4(SOS2):c.164T>C (p.Leu55Pro)Noonan syndrome 9 [RCV002227673]uncertain significance145020433350204333Human1name
155709959CV1785580single nucleotide variantNM_006939.4(SOS2):c.1134C>T (p.Leu378=)Cardiovascular phenotype [RCV002324786]likely benign145016154450161544Humanname
155741448CV1790795single nucleotide variantNM_006939.4(SOS2):c.1167C>T (p.Tyr389=)Cardiovascular phenotype [RCV002333441]likely benign145016151150161511Humanname
155742036CV1791223single nucleotide variantNM_006939.4(SOS2):c.1173G>A (p.Gln391=)Cardiovascular phenotype [RCV002333609]|Noonan syndrome 9 [RCV003102577]likely benign145016150550161505Human1name
155727730CV1818907single nucleotide variantNM_006939.4(SOS2):c.1236C>T (p.Ser412=)Cardiovascular phenotype [RCV002364993]likely benign145016004750160047Humanname
155669888CV1822172single nucleotide variantNM_006939.4(SOS2):c.122A>G (p.Asn41Ser)Cardiovascular phenotype [RCV002367239]|Noonan syndrome 9 [RCV003754952]uncertain significance145020437550204375Human1name
155677627CV1826191single nucleotide variantNM_006939.4(SOS2):c.1347A>G (p.Thr449=)Cardiovascular phenotype [RCV002387837]likely benign145015993650159936Humanname
155738367CV1832022single nucleotide variantNM_006939.4(SOS2):c.181A>C (p.Met61Leu)Cardiovascular phenotype [RCV002410320]uncertain significance145020431650204316Humanname
155746756CV1835291single nucleotide variantNM_006939.4(SOS2):c.1881C>T (p.Thr627=)Cardiovascular phenotype [RCV002415312]|Noonan syndrome 9 [RCV005097808]|SOS2-related disorder [RCV004747077]likely benign145015861850158618Human1name , alternate_id
155746859CV1835336single nucleotide variantNM_006939.4(SOS2):c.1884A>G (p.Thr628=)Cardiovascular phenotype [RCV002415357]|Noonan syndrome 9 [RCV003754976]likely benign145015861550158615Human1name
155746039CV1838935single nucleotide variantNM_006939.4(SOS2):c.1866T>C (p.Val622=)Cardiovascular phenotype [RCV002415006]likely benign145015863350158633Humanname
155743088CV1839259single nucleotide variantNM_006939.4(SOS2):c.1833A>G (p.Leu611=)Cardiovascular phenotype [RCV002412678]|Noonan syndrome 9 [RCV003097286]benign|likely benign145015945050159450Human1name
155683028CV1839887single nucleotide variantNM_006939.4(SOS2):c.1980A>G (p.Ala660=)Cardiovascular phenotype [RCV002423663]likely benign145015707650157076Humanname
155692262CV1841496single nucleotide variantNM_006939.4(SOS2):c.2394A>G (p.Gln798=)Cardiovascular phenotype [RCV002459595]|Noonan syndrome 9 [RCV003101783]likely benign145014558750145587Human1name
155723735CV1842121single nucleotide variantNM_006939.4(SOS2):c.2520A>C (p.Ala840=)Cardiovascular phenotype [RCV002433049]|Noonan syndrome 9 [RCV005098176]likely benign145014531750145317Human1name
155670278CV1843481single nucleotide variantNM_006939.4(SOS2):c.2037T>C (p.Tyr679=)Cardiovascular phenotype [RCV002419865]|Noonan syndrome 9 [RCV005097901]likely benign145015701950157019Human1name
155695395CV1844616single nucleotide variantNM_006939.4(SOS2):c.2259A>G (p.Glu753=)Cardiovascular phenotype [RCV002443665]likely benign145015013350150133Humanname
155712266CV1845404single nucleotide variantNM_006939.4(SOS2):c.2484T>C (p.Asn828=)Cardiovascular phenotype [RCV002430839]likely benign145014549750145497Humanname
155712532CV1845431single nucleotide variantNM_006939.4(SOS2):c.2487C>A (p.Leu829=)Cardiovascular phenotype [RCV002430866]likely benign145014549450145494Humanname
155713052CV1845494single nucleotide variantNM_006939.4(SOS2):c.2490C>T (p.Thr830=)Cardiovascular phenotype [RCV002430929]|Noonan syndrome 9 [RCV005098157]likely benign145014549150145491Human1name
155739958CV1846138single nucleotide variantNM_006939.4(SOS2):c.1926G>A (p.Leu642=)Cardiovascular phenotype [RCV002410807]likely benign145015857350158573Humanname
155747638CV1849655single nucleotide variantNM_006939.4(SOS2):c.1998G>A (p.Gln666=)Cardiovascular phenotype [RCV002417033]|Noonan syndrome 9 [RCV005097878]benign|likely benign145015705850157058Human1name
155685098CV1850036single nucleotide variantNM_006939.4(SOS2):c.2094T>C (p.His698=)Cardiovascular phenotype [RCV002424090]|Noonan syndrome 9 [RCV003754979]likely benign145015313750153137Human1name
155688970CV1850471single nucleotide variantNM_006939.4(SOS2):c.2196T>C (p.Ala732=)Cardiovascular phenotype [RCV002425602]likely benign145015019650150196Humanname
155678540CV1851643single nucleotide variantNM_006939.4(SOS2):c.2526T>C (p.Asn842=)Cardiovascular phenotype [RCV002455694]likely benign145014531150145311Humanname
155678715CV1851831single nucleotide variantNM_006939.4(SOS2):c.2538G>C (p.Arg846=)Cardiovascular phenotype [RCV002455761]likely benign145014529950145299Humanname
155704092CV1852464single nucleotide variantNM_006939.4(SOS2):c.110C>T (p.Thr37Ile)Cardiovascular phenotype [RCV002428922]|Noonan syndrome 9 [RCV003102110]likely benign|uncertain significance145020438750204387Human1name
155686769CV1852699single nucleotide variantNM_006939.4(SOS2):c.2805T>A (p.Ile935=)Cardiovascular phenotype [RCV002441638]likely benign145013876550138765Humanname
155681143CV1854497single nucleotide variantNM_006939.4(SOS2):c.2910G>A (p.Gln970=)Cardiovascular phenotype [RCV002439829]|Noonan syndrome 9 [RCV005058843]likely benign145013866050138660Human1name
155664102CV1855118single nucleotide variantNM_006939.4(SOS2):c.282A>G (p.Ile94Met)Cardiovascular phenotype [RCV002435074]uncertain significance145020101650201016Humanname
155666120CV1855518single nucleotide variantNM_006939.4(SOS2):c.1119A>G (p.Gln373=)Cardiovascular phenotype [RCV002435474]|Noonan syndrome 9 [RCV003754989]likely benign145016155950161559Human1name
155688966CV1856425single nucleotide variantNM_006939.4(SOS2):c.2970A>G (p.Glu990=)Cardiovascular phenotype [RCV002442097]likely benign145013422850134228Humanname
156007389CV1870507single nucleotide variantNM_006939.4(SOS2):c.2190A>C (p.Ser730=)Noonan syndrome 9 [RCV003076894]likely benign145015020250150202Human1name
155954904CV1876640single nucleotide variantNM_006939.4(SOS2):c.2022A>G (p.Arg674=)Cardiovascular phenotype [RCV004992468]|Noonan syndrome 9 [RCV003074359]likely benign145015703450157034Human1name
156407042CV1878609single nucleotide variantNM_006939.4(SOS2):c.2076G>A (p.Arg692=)Noonan syndrome 9 [RCV003070704]likely benign145015315550153155Human1name
156099394CV1896705single nucleotide variantNM_006939.4(SOS2):c.1371G>T (p.Arg457=)Noonan syndrome 9 [RCV003080542]likely benign145015991250159912Human1name
156277309CV1900310single nucleotide variantNM_006939.4(SOS2):c.1170G>A (p.Lys390=)Noonan syndrome 9 [RCV003086992]likely benign145016150850161508Human1name
156019908CV1909427single nucleotide variantNM_006939.4(SOS2):c.2136A>G (p.Leu712=)Noonan syndrome 9 [RCV002619342]likely benign145015309550153095Human1name
156090271CV1919708single nucleotide variantNM_006939.4(SOS2):c.1422C>T (p.Gly474=)Cardiovascular phenotype [RCV004068874]|Noonan syndrome 9 [RCV002591886]likely benign145015986150159861Human1name
156397059CV1925144single nucleotide variantNM_006939.4(SOS2):c.1243C>T (p.Leu415=)Cardiovascular phenotype [RCV004992553]|Noonan syndrome 9 [RCV002655024]benign|likely benign145016004050160040Human1name
156293589CV1926638single nucleotide variantNM_006939.4(SOS2):c.2241C>T (p.Ser747=)Noonan syndrome 9 [RCV002628915]|SOS2-related disorder [RCV003898888]likely benign|uncertain significance145015015150150151Human1name , alternate_id
156435547CV1937463single nucleotide variantNM_006939.4(SOS2):c.1353C>T (p.Ile451=)Noonan syndrome 9 [RCV003106856]likely benign145015993050159930Human1name
156272546CV1957248single nucleotide variantNM_006939.4(SOS2):c.2109A>G (p.Glu703=)Noonan syndrome 9 [RCV002577210]likely benign145015312250153122Human1name
156416065CV1983937single nucleotide variantNM_006939.4(SOS2):c.2898T>G (p.Thr966=)Noonan syndrome 9 [RCV002609978]likely benign145013867250138672Human1name
156110692CV1988737insertionNM_006939.4(SOS2):c.2786-16_2786-15insGNoonan syndrome 9 [RCV002622564]likely benign145013879950138800Human1name
156295807CV1995352single nucleotide variantNM_006939.4(SOS2):c.1455A>G (p.Glu485=)Noonan syndrome 9 [RCV002670947]|not specified [RCV004526938]likely benign145015982850159828Human1name
156220449CV1995745single nucleotide variantNM_006939.4(SOS2):c.1029G>A (p.Val343=)Noonan syndrome 9 [RCV002667207]likely benign145017449350174493Human1name
156108525CV1996853single nucleotide variantNM_006939.4(SOS2):c.2472C>A (p.Arg824=)Noonan syndrome 9 [RCV002662394]likely benign145014550950145509Human1name
156355492CV2005201single nucleotide variantNM_006939.4(SOS2):c.2106T>C (p.Phe702=)Noonan syndrome 9 [RCV002675893]likely benign145015312550153125Human1name
156371153CV2007765single nucleotide variantNM_006939.4(SOS2):c.2880G>A (p.Arg960=)Noonan syndrome 9 [RCV002676911]likely benign145013869050138690Human1name
156082285CV2023625single nucleotide variantNM_006939.4(SOS2):c.1614C>A (p.Ala538=)Noonan syndrome 9 [RCV002760665]likely benign145015966950159669Human1name
156374183CV2028372single nucleotide variantNM_006939.4(SOS2):c.2853A>G (p.Lys951=)Noonan syndrome 9 [RCV002721774]likely benign145013871750138717Human1name
155979165CV2028708single nucleotide variantNM_006939.4(SOS2):c.2361A>G (p.Thr787=)Noonan syndrome 9 [RCV002755245]likely benign145015003150150031Human1name
155947056CV2035966single nucleotide variantNM_006939.4(SOS2):c.1965C>T (p.Asp655=)Noonan syndrome 9 [RCV002775548]|not provided [RCV003395518]likely benign145015709150157091Human1name
156328869CV2050503single nucleotide variantNM_006939.4(SOS2):c.2442A>C (p.Ile814=)Noonan syndrome 9 [RCV002810561]likely benign145014553950145539Human1name
155994910CV2060077single nucleotide variantNM_006939.4(SOS2):c.1323A>G (p.Glu441=)Noonan syndrome 9 [RCV002819376]likely benign145015996050159960Human1name
155998327CV2074462single nucleotide variantNM_006939.4(SOS2):c.223C>G (p.Gln75Glu)Noonan syndrome 9 [RCV002843287]uncertain significance145020107550201075Human1name
155911680CV2084953single nucleotide variantNM_006939.4(SOS2):c.1159C>A (p.Arg387=)Noonan syndrome 9 [RCV002858541]uncertain significance145016151950161519Human1name
156049870CV2091380insertionNM_006939.4(SOS2):c.2057+19_2057+20insANoonan syndrome 9 [RCV002886123]likely benign145015697950156980Human1name
156140299CV2094477single nucleotide variantNM_006939.4(SOS2):c.2814C>T (p.Thr938=)Noonan syndrome 9 [RCV002890278]|SOS2-related disorder [RCV003916557]|not specified [RCV003994470]likely benign145013875650138756Human1name , alternate_id
156229738CV2111883single nucleotide variantNM_006939.4(SOS2):c.2337A>G (p.Pro779=)Noonan syndrome 9 [RCV002918887]likely benign145015005550150055Human1name
156033249CV2116350single nucleotide variantNM_006939.4(SOS2):c.1080A>T (p.Ala360=)Noonan syndrome 9 [RCV002910161]likely benign145016159850161598Human1name
156353789CV2118934single nucleotide variantNM_006939.4(SOS2):c.2997T>C (p.Ser999=)Noonan syndrome 9 [RCV002966500]likely benign145013420150134201Human1name
156354622CV2129043single nucleotide variantNM_006939.4(SOS2):c.2262T>C (p.Ser754=)Noonan syndrome 9 [RCV002966561]likely benign145015013050150130Human1name
156090923CV2132459single nucleotide variantNM_006939.4(SOS2):c.1362A>G (p.Lys454=)Noonan syndrome 9 [RCV002979600]likely benign145015992150159921Human1name
156267675CV2140198single nucleotide variantNM_006939.4(SOS2):c.137A>G (p.Tyr46Cys)Noonan syndrome 9 [RCV003009152]uncertain significance145020436050204360Human1name
156119307CV2151550single nucleotide variantNM_006939.4(SOS2):c.1488A>G (p.Lys496=)Noonan syndrome 9 [RCV003002915]likely benign145015979550159795Human1name
155952961CV2169864single nucleotide variantNM_006939.4(SOS2):c.1642C>T (p.Leu548=)Noonan syndrome 9 [RCV003014947]likely benign145015964150159641Human1name
156288400CV2172432single nucleotide variantNM_006939.4(SOS2):c.1065A>G (p.Leu355=)Noonan syndrome 9 [RCV003027579]likely benign145017445750174457Human1name
156206155CV2179325single nucleotide variantNM_006939.4(SOS2):c.2766A>T (p.Pro922=)Noonan syndrome 9 [RCV003024630]likely benign145013996150139961Human1name
156342956CV2186032single nucleotide variantNM_006939.4(SOS2):c.2406T>C (p.Leu802=)Noonan syndrome 9 [RCV003047843]likely benign145014557550145575Human1name
329349559CV2425527single nucleotide variantNM_006939.4(SOS2):c.1785C>G (p.Gly595=)Cardiovascular phenotype [RCV003181561]likely benign145015949850159498Humanname
11641974CV264542single nucleotide variantNM_006939.4(SOS2):c.142A>G (p.Ile48Val)Noonan syndrome 9 [RCV005055817]|SOS2-related disorder [RCV003422189]|not provided [RCV000366863]likely benign|uncertain significance145020435550204355Human1name , alternate_id
401748530CV2733668single nucleotide variantNM_006939.4(SOS2):c.1368A>G (p.Glu456=)Cardiovascular phenotype [RCV003301372]likely benign145015991550159915Humanname
401748534CV2733671single nucleotide variantNM_006939.4(SOS2):c.238C>T (p.His80Tyr)Cardiovascular phenotype [RCV003301375]uncertain significance145020106050201060Humanname
401854394CV2749153single nucleotide variantNM_006939.4(SOS2):c.1773A>G (p.Gln591=)Cardiovascular phenotype [RCV004334108]|not specified [RCV003331979]likely benign145015951050159510Humanname
401859068CV2787413single nucleotide variantNM_006939.4(SOS2):c.1533A>G (p.Ala511=)Cardiovascular phenotype [RCV003380189]|Noonan syndrome 9 [RCV005104232]likely benign145015975050159750Human1name
401859076CV2787415single nucleotide variantNM_006939.4(SOS2):c.2616A>T (p.Ile872=)Cardiovascular phenotype [RCV003380191]likely benign145014522150145221Humanname
401859305CV2790066single nucleotide variantNM_006939.4(SOS2):c.194G>A (p.Arg65Lys)Cardiovascular phenotype [RCV004364016]uncertain significance145020430350204303Humanname
401902573CV2810407single nucleotide variantNM_006939.4(SOS2):c.2832T>C (p.Asp944=)Noonan syndrome 9 [RCV005100024]|not provided [RCV003393421]likely benign145013873850138738Human1name
402517700CV2860961single nucleotide variantNM_006939.4(SOS2):c.1540T>C (p.Leu514=)Noonan syndrome 9 [RCV003592427]likely benign145015974350159743Human1name
402517830CV2878189single nucleotide variantNM_006939.4(SOS2):c.205G>A (p.Asp69Asn)Noonan syndrome 9 [RCV003592654]uncertain significance145020429250204292Human1name
402518082CV2884470single nucleotide variantNM_006939.4(SOS2):c.2661C>G (p.Thr887=)Noonan syndrome 9 [RCV003592877]likely benign145014517650145176Human1name
402516362CV2905989single nucleotide variantNM_006939.4(SOS2):c.1017T>A (p.Arg339=)Noonan syndrome 9 [RCV003591194]likely benign145017450550174505Human1name
402517610CV2925963single nucleotide variantNM_006939.4(SOS2):c.1017T>C (p.Arg339=)Noonan syndrome 9 [RCV003592092]likely benign145017450550174505Human1name
402517621CV2926669single nucleotide variantNM_006939.4(SOS2):c.166C>T (p.Leu56Phe)Noonan syndrome 9 [RCV003592154]uncertain significance145020433150204331Human1name
402516619CV2927984single nucleotide variantNM_006939.4(SOS2):c.1221T>C (p.Ser407=)Noonan syndrome 9 [RCV003591611]likely benign145016006250160062Human1name
402482000CV2948889single nucleotide variantNM_006939.4(SOS2):c.1662A>G (p.Ser554=)Noonan syndrome 9 [RCV003755166]likely benign145015962150159621Human1name
402482287CV2981710single nucleotide variantNM_006939.4(SOS2):c.272A>C (p.Gln91Pro)Noonan syndrome 9 [RCV003755509]uncertain significance145020102650201026Human1name
402482420CV3003494single nucleotide variantNM_006939.4(SOS2):c.263C>T (p.Ala88Val)Noonan syndrome 9 [RCV003755697]uncertain significance145020103550201035Human1name
402482511CV3008494single nucleotide variantNM_006939.4(SOS2):c.1983A>T (p.Ile661=)Noonan syndrome 9 [RCV003755760]likely benign145015707350157073Human1name
402482609CV3025855single nucleotide variantNM_006939.4(SOS2):c.2895T>C (p.Ile965=)Noonan syndrome 9 [RCV003755917]|not specified [RCV005407217]likely benign145013867550138675Human1name
402482682CV3032018single nucleotide variantNM_006939.4(SOS2):c.2493C>T (p.Leu831=)Noonan syndrome 9 [RCV003756030]likely benign145014548850145488Human1name
402482879CV3052425single nucleotide variantNM_006939.4(SOS2):c.280A>G (p.Ile94Val)Noonan syndrome 9 [RCV003756280]uncertain significance145020101850201018Human1name
402482737CV3053607single nucleotide variantNM_006939.4(SOS2):c.1932A>G (p.Glu644=)Noonan syndrome 9 [RCV003756163]likely benign145015856750158567Human1name
402482860CV3055058single nucleotide variantNM_006939.4(SOS2):c.2574A>G (p.Gln858=)Noonan syndrome 9 [RCV003756242]likely benign145014526350145263Human1name
402482962CV3069476single nucleotide variantNM_006939.4(SOS2):c.106C>G (p.Pro36Ala)Noonan syndrome 9 [RCV003756430]uncertain significance145020439150204391Human1name
402483000CV3070292single nucleotide variantNM_006939.4(SOS2):c.1464A>G (p.Leu488=)Cardiovascular phenotype [RCV004992786]|Noonan syndrome 9 [RCV003756478]likely benign145015981950159819Human1name
402483054CV3079388single nucleotide variantNM_006939.4(SOS2):c.2313A>G (p.Thr771=)Noonan syndrome 9 [RCV003756548]likely benign145015007950150079Human1name
402483093CV3080608single nucleotide variantNM_006939.4(SOS2):c.2214G>A (p.Lys738=)Cardiovascular phenotype [RCV004992801]|Noonan syndrome 9 [RCV003756610]likely benign145015017850150178Human1name
405209625CV3162617single nucleotide variantNM_006939.4(SOS2):c.1227A>G (p.Gln409=)Cardiovascular phenotype [RCV004369564]|Noonan syndrome 9 [RCV003861916]|SOS2-related disorder [RCV003893536]likely benign145016005650160056Human1name , alternate_id
405243686CV3164802single nucleotide variantNM_006939.4(SOS2):c.1242C>T (p.His414=)Noonan syndrome 9 [RCV003867883]likely benign145016004150160041Human1name
402472731CV3172031single nucleotide variantNM_006939.4(SOS2):c.2034A>G (p.Glu678=)Noonan syndrome 9 [RCV003874634]likely benign145015702250157022Human1name
405253692CV3178620single nucleotide variantNM_006939.4(SOS2):c.1230A>G (p.Leu410=)Noonan syndrome 9 [RCV003871222]likely benign145016005350160053Human1name
402497467CV3179330single nucleotide variantNM_006939.4(SOS2):c.2505A>G (p.Lys835=)Noonan syndrome 9 [RCV003877597]uncertain significance145014533250145332Human1name
405272120CV3195004single nucleotide variantNM_006939.4(SOS2):c.2790A>T (p.Ile930=)SOS2-related disorder [RCV003902245]likely benign145013878050138780Humanname , trait , alternate_id
405278135CV3206112single nucleotide variantNM_006939.4(SOS2):c.2613G>A (p.Glu871=)SOS2-related disorder [RCV003964186]likely benign145014522450145224Humanname , trait , alternate_id
405680554CV3390461single nucleotide variantNM_006939.4(SOS2):c.1617T>A (p.Leu539=)Cardiovascular phenotype [RCV004517225]|Noonan syndrome 9 [RCV005100553]likely benign145015966650159666Human1name
405680568CV3390464single nucleotide variantNM_006939.4(SOS2):c.203A>G (p.Gln68Arg)Cardiovascular phenotype [RCV004517228]uncertain significance145020429450204294Humanname
407504621CV3485081single nucleotide variantNM_006939.4(SOS2):c.215A>C (p.Glu72Ala)Cardiovascular phenotype [RCV004670589]uncertain significance145020108350201083Humanname
407504626CV3485085single nucleotide variantNM_006939.4(SOS2):c.1737C>T (p.Asp579=)Cardiovascular phenotype [RCV004670593]likely benign145015954650159546Humanname
408371408CV3503696single nucleotide variantNM_006939.4(SOS2):c.2385G>A (p.Arg795=)SOS2-related disorder [RCV004724583]uncertain significance145014559650145596Humanname , trait , alternate_id
597730436CV3603800single nucleotide variantNM_006939.4(SOS2):c.1590A>G (p.Glu530=)Cardiovascular phenotype [RCV004996265]likely benign145015969350159693Humanname
597730443CV3603802single nucleotide variantNM_006939.4(SOS2):c.2235A>T (p.Gly745=)Cardiovascular phenotype [RCV004996267]likely benign145015015750150157Humanname
597730500CV3603818single nucleotide variantNM_006939.4(SOS2):c.2379T>C (p.Leu793=)Cardiovascular phenotype [RCV004996283]likely benign145015001350150013Humanname
597730509CV3603820single nucleotide variantNM_006939.4(SOS2):c.2370G>A (p.Glu790=)Cardiovascular phenotype [RCV004996285]likely benign145015002250150022Humanname
597730513CV3603821single nucleotide variantNM_006939.4(SOS2):c.2361A>C (p.Thr787=)Cardiovascular phenotype [RCV004996286]likely benign145015003150150031Humanname
597730523CV3603825single nucleotide variantNM_006939.4(SOS2):c.143T>C (p.Ile48Thr)Cardiovascular phenotype [RCV004996289]uncertain significance145020435450204354Humanname
597730527CV3603826single nucleotide variantNM_006939.4(SOS2):c.196A>G (p.Thr66Ala)Cardiovascular phenotype [RCV004996290]uncertain significance145020430150204301Humanname
12839883CV373106single nucleotide variantNM_006939.4(SOS2):c.1785C>T (p.Gly595=)not provided [RCV000429647]likely benign145015949850159498Humanname
597862785CV3745230single nucleotide variantNM_006939.4(SOS2):c.2742A>G (p.Leu914=)Noonan syndrome 9 [RCV005067586]likely benign145013998550139985Human1name
597847131CV3746315single nucleotide variantNM_006939.4(SOS2):c.211G>C (p.Glu71Gln)Noonan syndrome 9 [RCV005060133]uncertain significance145020428650204286Human1name
597847138CV3746316single nucleotide variantNM_006939.4(SOS2):c.208G>C (p.Val70Leu)Noonan syndrome 9 [RCV005060134]uncertain significance145020428950204289Human1name
597940177CV3757190single nucleotide variantNM_006939.4(SOS2):c.1992C>G (p.Gly664=)Noonan syndrome 9 [RCV005077375]likely benign145015706450157064Human1name
12834557CV376065single nucleotide variantNM_006939.4(SOS2):c.2232C>T (p.Asn744=)Cardiovascular phenotype [RCV002429401]|Noonan syndrome 9 [RCV001515861]|not provided [RCV000587035]|not specified [RCV001195557]benign145015016050150160Human1name
12840569CV376070single nucleotide variantNM_006939.4(SOS2):c.1344G>A (p.Leu448=)Cardiovascular phenotype [RCV002379364]|Noonan syndrome 9 [RCV001084699]|not provided [RCV000588482]|not specified [RCV001706637]benign|likely benign145015993950159939Human2name
12840569CV376070single nucleotide variantNM_006939.4(SOS2):c.1344G>A (p.Leu448=)Cardiovascular phenotype [RCV002379364]|Noonan syndrome 9 [RCV001084699]|not provided [RCV000588482]|not specified [RCV001706637]benign|likely benign145015993950159940Human2name
597893245CV3763459single nucleotide variantNM_006939.4(SOS2):c.1338A>T (p.Gly446=)Noonan syndrome 9 [RCV005111039]likely benign145015994550159945Human1name
597866931CV3767674single nucleotide variantNM_006939.4(SOS2):c.202C>G (p.Gln68Glu)Noonan syndrome 9 [RCV005107011]likely benign145020429550204295Human1name
597866943CV3767676single nucleotide variantNM_006939.4(SOS2):c.169A>G (p.Asn57Asp)Noonan syndrome 9 [RCV005107013]uncertain significance145020432850204328Human1name
597949149CV3772285single nucleotide variantNM_006939.4(SOS2):c.133C>T (p.Leu45Phe)Noonan syndrome 9 [RCV005120604]uncertain significance145020436450204364Human1name
597929066CV3788904deletionNM_006939.4(SOS2):c.851del (p.Leu284fs)Noonan syndrome 9 [RCV005131383]uncertain significance145018247050182470Human1name
597967721CV3794586single nucleotide variantNM_006939.4(SOS2):c.2460A>G (p.Leu820=)Noonan syndrome 9 [RCV005140762]likely benign145014552150145521Human1name
597949543CV3797652single nucleotide variantNM_006939.4(SOS2):c.2493C>A (p.Leu831=)Noonan syndrome 9 [RCV005135644]likely benign145014548850145488Human1name
597973984CV3801674single nucleotide variantNM_006939.4(SOS2):c.1338A>C (p.Gly446=)Noonan syndrome 9 [RCV005143663]likely benign145015994550159945Human1name
597873286CV3805461single nucleotide variantNM_006939.4(SOS2):c.1350A>G (p.Arg450=)Noonan syndrome 9 [RCV005148739]likely benign145015993350159933Human1name
597864778CV3814272single nucleotide variantNM_006939.4(SOS2):c.1422C>G (p.Gly474=)Noonan syndrome 9 [RCV005147341]likely benign145015986150159861Human1name
597927864CV3816031single nucleotide variantNM_006939.4(SOS2):c.2994A>T (p.Ala998=)Noonan syndrome 9 [RCV005156612]likely benign145013420450134204Human1name
597940675CV3819099single nucleotide variantNM_006939.4(SOS2):c.2571G>A (p.Leu857=)Noonan syndrome 9 [RCV005158910]likely benign145014526650145266Human1name
597852537CV3821213single nucleotide variantNM_006939.4(SOS2):c.1032A>G (p.Pro344=)Noonan syndrome 9 [RCV005173871]likely benign145017449050174490Human1name
597856124CV3822095single nucleotide variantNM_006939.4(SOS2):c.1107A>G (p.Glu369=)Noonan syndrome 9 [RCV005174393]likely benign145016157150161571Human1name
597961406CV3840715single nucleotide variantNM_006939.4(SOS2):c.295C>T (p.Arg99Ter)Noonan syndrome 9 [RCV005193008]uncertain significance145020100350201003Human1name
597905400CV3846527single nucleotide variantNM_006939.4(SOS2):c.1776T>C (p.Ser592=)Noonan syndrome 9 [RCV005181954]likely benign145015950750159507Human1name
597905970CV3846644single nucleotide variantNM_006939.4(SOS2):c.214G>A (p.Glu72Lys)Noonan syndrome 9 [RCV005182071]uncertain significance145020108450201084Human1name
597913592CV3850989single nucleotide variantNM_006939.4(SOS2):c.2554A>C (p.Arg852=)Noonan syndrome 9 [RCV005203957]likely benign145014528350145283Human1name
597866635CV3861275single nucleotide variantNM_006939.4(SOS2):c.2001A>G (p.Pro667=)Noonan syndrome 9 [RCV005196623]likely benign145015705550157055Human1name
597937374CV3862692single nucleotide variantNM_006939.4(SOS2):c.1614C>T (p.Ala538=)Noonan syndrome 9 [RCV005207964]likely benign145015966950159669Human1name
598246955CV3911977single nucleotide variantNM_006939.4(SOS2):c.2166A>G (p.Lys722=)Cardiovascular phenotype [RCV005277211]likely benign145015022650150226Humanname
598246964CV3911980single nucleotide variantNM_006939.4(SOS2):c.259A>G (p.Ile87Val)Cardiovascular phenotype [RCV005277214]uncertain significance145020103950201039Humanname
598246970CV3911983single nucleotide variantNM_006939.4(SOS2):c.2193T>A (p.Ile731=)Cardiovascular phenotype [RCV005277216]likely benign145015019950150199Humanname
598246977CV3911985single nucleotide variantNM_006939.4(SOS2):c.2913G>A (p.Gln971=)Cardiovascular phenotype [RCV005277218]likely benign145013865750138657Humanname
598246990CV3911989single nucleotide variantNM_006939.4(SOS2):c.1077A>G (p.Lys359=)Cardiovascular phenotype [RCV005277222]likely benign145016160150161601Humanname
598246994CV3911990single nucleotide variantNM_006939.4(SOS2):c.1266A>G (p.Glu422=)Cardiovascular phenotype [RCV005277223]likely benign145016001750160017Humanname
13470270CV463280single nucleotide variantNM_006939.4(SOS2):c.2625A>T (p.Ala875=)Cardiovascular phenotype [RCV002431705]|Noonan syndrome 9 [RCV000546026]|not specified [RCV001193057]benign145014521250145212Human1name
13486472CV463286single nucleotide variantNM_006939.4(SOS2):c.2604C>T (p.Gly868=)Cardiovascular phenotype [RCV002438485]|Noonan syndrome 9 [RCV000531280]|Noonan syndrome and Noonan-related syndrome [RCV001813498]|not provided [RCV004808782]|not specified [RCV005407736]benign|likely benign145014523350145233Human1name
13493870CV463787single nucleotide variantNM_006939.4(SOS2):c.1176T>C (p.Tyr392=)Noonan syndrome 9 [RCV000535986]likely benign145016150250161502Human1name
13474434CV463795single nucleotide variantNM_006939.4(SOS2):c.1146A>G (p.Gln382=)Noonan syndrome 9 [RCV000525832]likely benign|uncertain significance145016153250161532Human1name
13472865CV464285single nucleotide variantNM_006939.4(SOS2):c.1071A>G (p.Gln357=)Cardiovascular phenotype [RCV002420524]|Noonan syndrome 9 [RCV001000595]|not provided [RCV001706675]|not specified [RCV002282227]benign|likely benign145016160750161607Human1name
13520175CV487787single nucleotide variantNM_006939.4(SOS2):c.2520A>G (p.Ala840=)Cardiovascular phenotype [RCV002456289]|Noonan syndrome 9 [RCV001085249]|SOS2-related disorder [RCV003925757]|not provided [RCV000587285]benign|likely benign145014531750145317Human1name , alternate_id
13525160CV504777single nucleotide variantNM_006939.4(SOS2):c.2007T>C (p.Ser669=)Noonan syndrome 9 [RCV003767667]|not specified [RCV000602779]likely benign145015704950157049Human1name
13625015CV528527single nucleotide variantNM_006939.4(SOS2):c.2268T>G (p.Pro756=)Noonan syndrome 9 [RCV001431860]likely benign145015012450150124Human1name
13624991CV528536single nucleotide variantNM_006939.4(SOS2):c.2217G>A (p.Lys739=)Cardiovascular phenotype [RCV002424535]|Noonan syndrome 9 [RCV000652825]|not specified [RCV001375506]benign|likely benign145015017550150175Human1name
13625016CV528650single nucleotide variantNM_006939.4(SOS2):c.2640A>G (p.Ser880=)Cardiovascular phenotype [RCV002458147]|Noonan syndrome 9 [RCV000652832]|Noonan syndrome and Noonan-related syndrome [RCV001813539]|SOS2-related disorder [RCV003953201]|not provided [RCV003389825]|not specified [RCV001358709]benign|likely benign145014519750145197Human1name , alternate_id
13625013CV528661single nucleotide variantNM_006939.4(SOS2):c.2154T>C (p.Ser718=)Cardiovascular phenotype [RCV004025886]|Noonan syndrome 9 [RCV000652828]|not provided [RCV004704177]|not specified [RCV005407846]likely benign145015307750153077Human1name
14714598CV642481single nucleotide variantNM_006939.4(SOS2):c.290G>A (p.Arg97Gln)Cardiovascular phenotype [RCV004994035]|Noonan syndrome 9 [RCV000810944]uncertain significance145020100850201008Human1name
14731504CV642482single nucleotide variantNM_006939.4(SOS2):c.257C>T (p.Ala86Val)Cardiovascular phenotype [RCV002458466]|Noonan syndrome 9 [RCV000801445]conflicting interpretations of pathogenicity|uncertain significance145020104150201041Human1name
15135473CV693501single nucleotide variantNM_006939.4(SOS2):c.2328A>G (p.Thr776=)Cardiovascular phenotype [RCV002444964]|Noonan syndrome 9 [RCV002064860]likely benign145015006450150064Human1name
15125618CV693502single nucleotide variantNM_006939.4(SOS2):c.1767C>T (p.Asn589=)Cardiovascular phenotype [RCV002399953]|Noonan syndrome 9 [RCV002064788]likely benign145015951650159516Human1name
15137001CV693503single nucleotide variantNM_006939.4(SOS2):c.1263T>C (p.Asn421=)Cardiovascular phenotype [RCV002409117]|Noonan syndrome 9 [RCV001510819]|not provided [RCV004808939]|not specified [RCV001526956]benign|likely benign145016002050160020Human1name
15153993CV702888single nucleotide variantNM_006939.4(SOS2):c.1392C>T (p.Gly464=)Cardiovascular phenotype [RCV002390996]|Noonan syndrome 9 [RCV002066247]likely benign145015989150159891Human1name
15152337CV702889single nucleotide variantNM_006939.4(SOS2):c.1005T>C (p.Tyr335=)Cardiovascular phenotype [RCV002409252]|Noonan syndrome 9 [RCV001403694]|not specified [RCV001255462]likely benign145017451750174517Human1name
15203050CV754051single nucleotide variantNM_006939.4(SOS2):c.2646C>T (p.Tyr882=)Noonan syndrome 9 [RCV001436776]|SOS2-related disorder [RCV003970398]likely benign145014519150145191Human1name , alternate_id
15155308CV754052single nucleotide variantNM_006939.4(SOS2):c.2643A>G (p.Val881=)Cardiovascular phenotype [RCV002427293]|Noonan syndrome 9 [RCV002066005]likely benign145014519450145194Human1name
15169450CV754053single nucleotide variantNM_006939.4(SOS2):c.1443C>T (p.Tyr481=)Noonan syndrome 9 [RCV002541554]likely benign145015984050159840Human1name
15175335CV769811single nucleotide variantNM_006939.4(SOS2):c.2740C>T (p.Leu914=)Noonan syndrome 9 [RCV002066078]likely benign145013998750139987Human1name
15200594CV769812single nucleotide variantNM_006939.4(SOS2):c.2586T>C (p.Asp862=)Noonan syndrome 9 [RCV001400666]likely benign145014525150145251Human1name
15182199CV769814single nucleotide variantNM_006939.4(SOS2):c.1593A>G (p.Glu531=)Noonan syndrome 9 [RCV001441791]likely benign145015969050159690Human1name
21405708CV799765single nucleotide variantNM_006939.4(SOS2):c.2712A>G (p.Glu904=)Cardiovascular phenotype [RCV002434391]|Noonan syndrome 9 [RCV001001029]|not provided [RCV003389855]|not specified [RCV001193055]benign|likely benign145014001550140015Human1name
26906499CV841536single nucleotide variantNM_006939.4(SOS2):c.220G>A (p.Val74Ile)Noonan syndrome 9 [RCV001037486]uncertain significance145020107850201078Human1name
34890938CV905952single nucleotide variantNM_006939.4(SOS2):c.189G>C (p.Gln63His)Cardiovascular phenotype [RCV002411671]|Noonan syndrome 9 [RCV002468181]|not specified [RCV001174628]uncertain significance145020430850204308Human1name
34896302CV917190single nucleotide variantNM_006939.4(SOS2):c.2010A>G (p.Ala670=)Cardiovascular phenotype [RCV002418648]|Noonan syndrome 9 [RCV001397528]|not specified [RCV001193655]benign|likely benign145015704650157046Human1name
38493710CV957228single nucleotide variantNM_006939.4(SOS2):c.185C>T (p.Ala62Val)Cardiovascular phenotype [RCV004994363]|Noonan syndrome 9 [RCV001240821]uncertain significance145020431250204312Human1name
40816220CV969179single nucleotide variantNM_006939.4(SOS2):c.1059G>A (p.Glu353=)Cardiovascular phenotype [RCV002411920]|Noonan syndrome 9 [RCV002069374]|not specified [RCV001260407]likely benign145017446350174463Human1name
126740607CV995858single nucleotide variantNM_006939.4(SOS2):c.230C>G (p.Thr77Ser)Cardiovascular phenotype [RCV005278795]|Noonan syndrome 9 [RCV001295786]likely benign|uncertain significance145020106850201068Human1name
126736521CV1017793single nucleotide variantNM_006939.4(SOS2):c.574A>G (p.Ser192Gly)Noonan syndrome 9 [RCV001328558]uncertain significance145018863750188637Human1name
126734114CV1031621single nucleotide variantNM_006939.4(SOS2):c.572C>A (p.Pro191His)Noonan syndrome 9 [RCV001349888]uncertain significance145018863950188639Human1name
126915526CV1048568single nucleotide variantNM_006939.4(SOS2):c.502G>A (p.Ala168Thr)Noonan syndrome 9 [RCV001360043]uncertain significance145019969950199699Human1name
127260009CV1080526single nucleotide variantNM_006939.4(SOS2):c.3360A>C (p.Pro1120=)Cardiovascular phenotype [RCV002322435]|Noonan syndrome 9 [RCV001419957]likely benign145012998050129980Human1name
127274612CV1102313single nucleotide variantNM_006939.4(SOS2):c.3954A>G (p.Pro1318=)Cardiovascular phenotype [RCV002358967]|Noonan syndrome 9 [RCV001432012]|not specified [RCV003388016]likely benign145011838950118389Human1name
127274257CV1102314single nucleotide variantNM_006939.4(SOS2):c.3588T>C (p.Phe1196=)Noonan syndrome 9 [RCV001442847]likely benign145011875550118755Human1name
127274041CV1102315single nucleotide variantNM_006939.4(SOS2):c.3495T>C (p.Asn1165=)Noonan syndrome 9 [RCV001431819]likely benign145011884850118848Human1name
127237879CV1102316single nucleotide variantNM_006939.4(SOS2):c.3138C>T (p.Gly1046=)Noonan syndrome 9 [RCV001433643]likely benign145013070050130700Human1name
127299116CV1123763single nucleotide variantNM_006939.4(SOS2):c.3540T>G (p.Pro1180=)Noonan syndrome 9 [RCV001453519]likely benign145011880350118803Human1name
127315712CV1144619single nucleotide variantNM_006939.4(SOS2):c.3615G>A (p.Pro1205=)Cardiovascular phenotype [RCV004037436]|Noonan syndrome 9 [RCV001502797]likely benign145011872850118728Human1name
127307288CV1144620single nucleotide variantNM_006939.4(SOS2):c.3079A>C (p.Arg1027=)Cardiovascular phenotype [RCV003298846]|Noonan syndrome 9 [RCV001480280]likely benign145013075950130759Human1name
150331500CV1172590duplicationNM_006939.4(SOS2):c.2384+111_2384+113dupnot provided [RCV001538657]likely benign145014989450149895Humanname
150338456CV1174172single nucleotide variantNM_006939.4(SOS2):c.545G>T (p.Gly182Val)Cardiovascular phenotype [RCV002343721]|Noonan syndrome 9 [RCV001542384]uncertain significance145018866650188666Human1name
150423007CV1181168duplicationNM_006939.4(SOS2):c.1069-198_1069-197dupnot provided [RCV001553425]likely benign145016178950161790Humanname
150407769CV1194839deletionNM_006939.4(SOS2):c.2162-336_2162-335delnot provided [RCV001572433]likely benign145015056550150566Humanname
150417898CV1194840deletionNM_006939.4(SOS2):c.2058-221_2058-218delnot provided [RCV001568972]likely benign145015339150153394Humanname
150432867CV1200857duplicationNM_006939.4(SOS2):c.1196+174_1196+175dupnot provided [RCV001581581]likely benign145016129550161296Humanname
150457813CV1202673deletionNM_006939.4(SOS2):c.1069-188_1069-181delnot provided [RCV001586326]likely benign145016179050161797Humanname
150437634CV1220752deletionNM_006939.4(SOS2):c.2058-224_2058-221delnot provided [RCV001609737]benign145015339450153397Humanname
150503359CV1223734deletionNM_006939.4(SOS2):c.1069-187_1069-181delnot provided [RCV001621383]benign145016179050161796Humanname
150520435CV1289646single nucleotide variantNM_006939.4(SOS2):c.947C>G (p.Pro316Arg)Noonan syndrome 9 [RCV001730065]uncertain significance145018059450180594Human1name
150549905CV1299720single nucleotide variantNM_006939.4(SOS2):c.521A>G (p.Asp174Gly)Noonan syndrome 9 [RCV001868521]|not provided [RCV001752646]uncertain significance145018869050188690Human1name
150550400CV1300227single nucleotide variantNM_006939.4(SOS2):c.997G>A (p.Val333Ile)not provided [RCV001765697]uncertain significance145017452550174525Humanname
150541867CV1302402single nucleotide variantNM_006939.4(SOS2):c.500G>A (p.Cys167Tyr)not provided [RCV001761092]uncertain significance145019970150199701Humanname
150555722CV1304877single nucleotide variantNM_006939.4(SOS2):c.614C>T (p.Thr205Ile)not provided [RCV001773125]uncertain significance145018859750188597Humanname
150534934CV1311698single nucleotide variantNM_006939.4(SOS2):c.644G>A (p.Arg215Gln)Cardiovascular phenotype [RCV004040794]|Noonan syndrome 9 [RCV002074068]|not specified [RCV001779508]likely benign145018856750188567Human1name
150534939CV1311701single nucleotide variantNM_006939.4(SOS2):c.944G>A (p.Arg315Lys)Noonan syndrome 9 [RCV001885142]|not specified [RCV001779511]uncertain significance145018059750180597Human1name
151233815CV1318763single nucleotide variantNM_006939.4(SOS2):c.680C>A (p.Ala227Asp)Noonan syndrome 9 [RCV001795581]uncertain significance145018853150188531Human1name
151233940CV1319191single nucleotide variantNM_006939.4(SOS2):c.575G>C (p.Ser192Thr)Cardiovascular phenotype [RCV004671442]|Noonan syndrome 9 [RCV001797010]uncertain significance145018863650188636Human1name
151352219CV1325160single nucleotide variantNM_006939.4(SOS2):c.554C>A (p.Ser185Tyr)Noonan syndrome and Noonan-related syndrome [RCV001813716]uncertain significance145018865750188657Humanname
151353172CV1326117single nucleotide variantNM_006939.4(SOS2):c.556C>G (p.Leu186Val)Noonan syndrome 9 [RCV003754921]|not provided [RCV001816137]uncertain significance145018865550188655Human1name
151891277CV1346984single nucleotide variantNM_006939.4(SOS2):c.956C>T (p.Ala319Val)Noonan syndrome 9 [RCV002039068]likely benign|uncertain significance145018058550180585Human1name
151740825CV1352800single nucleotide variantNM_006939.4(SOS2):c.374A>T (p.His125Leu)Cardiovascular phenotype [RCV002343932]|Noonan syndrome 9 [RCV001871005]conflicting interpretations of pathogenicity|uncertain significance145019982750199827Human1name
151734240CV1354546single nucleotide variantNM_006939.4(SOS2):c.3960C>T (p.Tyr1320=)Cardiovascular phenotype [RCV004996066]|Noonan syndrome 9 [RCV001892566]likely benign145011838350118383Human1name
151759808CV1361781single nucleotide variantNM_006939.4(SOS2):c.949G>A (p.Ala317Thr)Noonan syndrome 9 [RCV001928374]uncertain significance145018059250180592Human1name
151878676CV1370141single nucleotide variantNM_006939.4(SOS2):c.975T>G (p.Ile325Met)Noonan syndrome 9 [RCV001961361]|not provided [RCV002286866]uncertain significance145017454750174547Human1name
151820642CV1378431single nucleotide variantNM_006939.4(SOS2):c.898A>G (p.Ile300Val)Noonan syndrome 9 [RCV002029860]uncertain significance145018064350180643Human1name
151868617CV1415494single nucleotide variantNM_006939.4(SOS2):c.929A>G (p.Asn310Ser)Noonan syndrome 9 [RCV001884851]likely benign|uncertain significance145018061250180612Human1name
151772274CV1417972single nucleotide variantNM_006939.4(SOS2):c.449T>C (p.Phe150Ser)Noonan syndrome 9 [RCV001874570]uncertain significance145019975250199752Human1name
151846591CV1423861single nucleotide variantNM_006939.4(SOS2):c.838T>C (p.Cys280Arg)Noonan syndrome 9 [RCV001995415]uncertain significance145018248350182483Human1name
151816182CV1427174single nucleotide variantNM_006939.4(SOS2):c.532C>G (p.Gln178Glu)Cardiovascular phenotype [RCV002343934]|Noonan syndrome 9 [RCV001878761]|not specified [RCV002469418]likely benign|conflicting interpretations of pathogenicity|uncertain significance145018867950188679Human1name
151849342CV1431308deletionNM_006939.4(SOS2):c.1734del (p.Asp579fs)Noonan syndrome 9 [RCV001922556]uncertain significance145015954950159549Human1name
151833539CV1432517single nucleotide variantNM_006939.4(SOS2):c.574A>C (p.Ser192Arg)Noonan syndrome 9 [RCV001993942]uncertain significance145018863750188637Human1name
151805278CV1440514single nucleotide variantNM_006939.4(SOS2):c.362A>G (p.Lys121Arg)Noonan syndrome 9 [RCV001932681]uncertain significance145019983950199839Human1name
151771537CV1451729single nucleotide variantNM_006939.4(SOS2):c.534G>T (p.Gln178His)Noonan syndrome 9 [RCV001988284]uncertain significance145018867750188677Human1name
151840415CV1462959single nucleotide variantNM_006939.4(SOS2):c.592A>T (p.Asn198Tyr)Cardiovascular phenotype [RCV004044851]|Noonan syndrome 9 [RCV002031753]likely benign|uncertain significance145018861950188619Human1name
151779181CV1467459single nucleotide variantNM_006939.4(SOS2):c.718A>G (p.Ile240Val)Noonan syndrome 9 [RCV001971918]uncertain significance145018260350182603Human1name
151887685CV1472049single nucleotide variantNM_006939.4(SOS2):c.304C>T (p.Pro102Ser)Noonan syndrome 9 [RCV002000933]uncertain significance145020099450200994Human1name
151806289CV1482315single nucleotide variantNM_006939.4(SOS2):c.662T>C (p.Ile221Thr)Noonan syndrome 9 [RCV002048436]uncertain significance145018854950188549Human1name
151768679CV1486318single nucleotide variantNM_006939.4(SOS2):c.3339C>T (p.Gly1113=)Noonan syndrome 9 [RCV001914770]likely benign|uncertain significance145013000150130001Human1name
151786174CV1495393single nucleotide variantNM_006939.4(SOS2):c.3003A>G (p.Lys1001=)Noonan syndrome 9 [RCV002026735]likely benign145013419550134195Human1name
151728248CV1505217single nucleotide variantNM_006939.4(SOS2):c.549G>T (p.Leu183Phe)Noonan syndrome 9 [RCV002021028]uncertain significance145018866250188662Human1name
152072754CV1522746single nucleotide variantNM_006939.4(SOS2):c.3042T>A (p.Ile1014=)Cardiovascular phenotype [RCV003161631]|Noonan syndrome 9 [RCV002148307]likely benign145013415650134156Human1name
152127102CV1530231single nucleotide variantNM_006939.4(SOS2):c.3934C>A (p.Arg1312=)Cardiovascular phenotype [RCV003161676]|Noonan syndrome 9 [RCV002198824]benign|likely benign145011840950118409Human1name
152170864CV1552424single nucleotide variantNM_006939.4(SOS2):c.3174A>G (p.Pro1058=)Noonan syndrome 9 [RCV002143259]likely benign145013066450130664Human1name
152135218CV1560310single nucleotide variantNM_006939.4(SOS2):c.3984A>G (p.Ala1328=)Cardiovascular phenotype [RCV002372949]|Noonan syndrome 9 [RCV002137446]likely benign145011835950118359Human1name
152114417CV1573659single nucleotide variantNM_006939.4(SOS2):c.3267A>G (p.Pro1089=)Noonan syndrome 9 [RCV002215934]likely benign145013057150130571Human1name
152117818CV1602268single nucleotide variantNM_006939.4(SOS2):c.3153T>A (p.Thr1051=)Cardiovascular phenotype [RCV004046287]|Noonan syndrome 9 [RCV002117436]likely benign145013068550130685Human1name
152081788CV1607879single nucleotide variantNM_006939.4(SOS2):c.3642T>C (p.Asp1214=)Noonan syndrome 9 [RCV002193114]likely benign145011870150118701Human1name
152161490CV1619437single nucleotide variantNM_006939.4(SOS2):c.680C>G (p.Ala227Gly)Cardiovascular phenotype [RCV003161343]|Noonan syndrome 9 [RCV002159719]likely benign|uncertain significance145018853150188531Human1name
152043718CV1637732single nucleotide variantNM_006939.4(SOS2):c.3531G>A (p.Pro1177=)Cardiovascular phenotype [RCV002454481]|Noonan syndrome 9 [RCV002144838]likely benign145011881250118812Human1name
152034742CV1639561single nucleotide variantNM_006939.4(SOS2):c.3097T>C (p.Leu1033=)Noonan syndrome 9 [RCV002187307]likely benign145013074150130741Human1name
152057833CV1651903single nucleotide variantNM_006939.4(SOS2):c.3738A>C (p.Ser1246=)Noonan syndrome 9 [RCV002190179]likely benign145011860550118605Human1name
152094740CV1661513single nucleotide variantNM_006939.4(SOS2):c.3813G>C (p.Pro1271=)Noonan syndrome 9 [RCV002172298]likely benign145011853050118530Human1name
152145740CV1661811single nucleotide variantNM_006939.4(SOS2):c.3798C>G (p.Pro1266=)Noonan syndrome 9 [RCV002157399]likely benign145011854550118545Human1name
152156661CV1668652single nucleotide variantNM_006939.4(SOS2):c.3147A>G (p.Ser1049=)Cardiovascular phenotype [RCV003308062]|Noonan syndrome 9 [RCV005095749]|not specified [RCV002222878]benign|likely benign145013069150130691Human1name
155674468CV1772066single nucleotide variantNM_006939.4(SOS2):c.961C>T (p.His321Tyr)Noonan syndrome 9 [RCV002296548]uncertain significance145018058050180580Human1name
155678730CV1772929single nucleotide variantNM_006939.4(SOS2):c.507T>A (p.Asp169Glu)Noonan syndrome 9 [RCV002302128]uncertain significance145019969450199694Human1name
155674554CV1778872single nucleotide variantNM_006939.4(SOS2):c.460C>A (p.His154Asn)Noonan syndrome 9 [RCV002296651]uncertain significance145019974150199741Human1name
155693624CV1786986single nucleotide variantNM_006939.4(SOS2):c.3883A>C (p.Arg1295=)Cardiovascular phenotype [RCV002357364]likely benign145011846050118460Humanname
155690439CV1789217single nucleotide variantNM_006939.4(SOS2):c.3513T>C (p.Asp1171=)Cardiovascular phenotype [RCV002459242]|Noonan syndrome 9 [RCV005096301]likely benign145011883050118830Human1name
155667025CV1789388single nucleotide variantNM_006939.4(SOS2):c.3657T>G (p.Val1219=)Cardiovascular phenotype [RCV002452515]likely benign145011868650118686Humanname
155667446CV1789459single nucleotide variantNM_006939.4(SOS2):c.3663T>G (p.Leu1221=)Cardiovascular phenotype [RCV002452583]|Noonan syndrome 9 [RCV003754942]likely benign145011868050118680Human1name
155686373CV1789921single nucleotide variantNM_006939.4(SOS2):c.383T>A (p.Leu128Gln)Cardiovascular phenotype [RCV002355440]uncertain significance145019981850199818Humanname
155686630CV1790110single nucleotide variantNM_006939.4(SOS2):c.3861T>C (p.Pro1287=)Cardiovascular phenotype [RCV002355552]likely benign145011848250118482Humanname
155701534CV1791301single nucleotide variantNM_006939.4(SOS2):c.439A>G (p.Asn147Asp)Cardiovascular phenotype [RCV002333687]|Noonan syndrome 9 [RCV003591938]uncertain significance145019976250199762Human1name
155696364CV1793683single nucleotide variantNM_006939.4(SOS2):c.3975A>G (p.Leu1325=)Cardiovascular phenotype [RCV002375509]|Noonan syndrome 9 [RCV003591936]likely benign145011836850118368Human1name
155711928CV1795342single nucleotide variantNM_006939.4(SOS2):c.3276A>C (p.Pro1092=)Cardiovascular phenotype [RCV002325031]likely benign145013056250130562Humanname
155671744CV1796485single nucleotide variantNM_006939.4(SOS2):c.3762G>C (p.Thr1254=)Cardiovascular phenotype [RCV002351026]likely benign145011858150118581Humanname
155667254CV1799715single nucleotide variantNM_006939.4(SOS2):c.541A>T (p.Ile181Leu)Cardiovascular phenotype [RCV002349469]|Noonan syndrome 9 [RCV003096730]uncertain significance145018867050188670Human1name
155696941CV1800849single nucleotide variantNM_006939.4(SOS2):c.601G>C (p.Asp201His)Cardiovascular phenotype [RCV002358107]uncertain significance145018861050188610Humanname
155710303CV1805786single nucleotide variantNM_006939.4(SOS2):c.503C>T (p.Ala168Val)Cardiovascular phenotype [RCV002335657]|Noonan syndrome 9 [RCV003096582]likely benign|uncertain significance145019969850199698Human1name
155747402CV1813630single nucleotide variantNM_006939.4(SOS2):c.793G>C (p.Val265Leu)Cardiovascular phenotype [RCV002416826]uncertain significance145018252850182528Humanname
155706596CV1818528single nucleotide variantNM_006939.4(SOS2):c.674G>T (p.Arg225Leu)Cardiovascular phenotype [RCV002377962]|Noonan syndrome 9 [RCV003776306]uncertain significance145018853750188537Human1name
155727869CV1818957single nucleotide variantNM_006939.4(SOS2):c.705T>G (p.Phe235Leu)Cardiovascular phenotype [RCV002365043]|Noonan syndrome 9 [RCV003098459]benign|uncertain significance145018850650188506Human1name
155713926CV1820676single nucleotide variantNM_006939.4(SOS2):c.854C>T (p.Ala285Val)Cardiovascular phenotype [RCV002447826]uncertain significance145018246750182467Humanname
155708180CV1823217single nucleotide variantNM_006939.4(SOS2):c.764T>G (p.Val255Gly)Cardiovascular phenotype [RCV002396399]uncertain significance145018255750182557Humanname
155697817CV1854948single nucleotide variantNM_006939.4(SOS2):c.305C>T (p.Pro102Leu)Cardiovascular phenotype [RCV002444186]uncertain significance145020099350200993Humanname
155668766CV1856193single nucleotide variantNM_006939.4(SOS2):c.3021G>A (p.Leu1007=)Cardiovascular phenotype [RCV002435895]likely benign145013417750134177Humanname
155794978CV1861350single nucleotide variantNM_006939.4(SOS2):c.775G>A (p.Gly259Ser)Noonan syndrome 9 [RCV003111571]|not provided [RCV002469632]uncertain significance145018254650182546Human1name
155795002CV1862946single nucleotide variantNM_006939.4(SOS2):c.866C>T (p.Ala289Val)Noonan syndrome 9 [RCV002470220]uncertain significance145018067550180675Human1name
155948110CV1869085single nucleotide variantNM_006939.4(SOS2):c.908C>T (p.Pro303Leu)Noonan syndrome 9 [RCV003073980]uncertain significance145018063350180633Human1name
156352477CV1870269single nucleotide variantNM_006939.4(SOS2):c.958C>G (p.Leu320Val)Noonan syndrome 9 [RCV003064967]likely benign145018058350180583Human1name
155995126CV1875610single nucleotide variantNM_006939.4(SOS2):c.472T>C (p.Ser158Pro)Noonan syndrome 9 [RCV003076306]uncertain significance145019972950199729Human1name
155974233CV1889783single nucleotide variantNM_006939.4(SOS2):c.715G>A (p.Asp239Asn)Noonan syndrome 9 [RCV003075330]uncertain significance145018260650182606Human1name
156039810CV1918457single nucleotide variantNM_006939.4(SOS2):c.3708A>G (p.Pro1236=)Noonan syndrome 9 [RCV002620208]likely benign145011863550118635Human1name
156158077CV1926362single nucleotide variantNM_006939.4(SOS2):c.541A>C (p.Ile181Leu)Noonan syndrome 9 [RCV002624257]uncertain significance145018867050188670Human1name
156162382CV1933275single nucleotide variantNM_006939.4(SOS2):c.3237A>G (p.Thr1079=)Noonan syndrome 9 [RCV002624420]likely benign145013060150130601Human1name
155940800CV1996197single nucleotide variantNM_006939.4(SOS2):c.932A>C (p.Lys311Thr)Noonan syndrome 9 [RCV002685447]uncertain significance145018060950180609Human1name
156135737CV2006374single nucleotide variantNM_006939.4(SOS2):c.541A>G (p.Ile181Val)Noonan syndrome 9 [RCV002663383]uncertain significance145018867050188670Human1name
156175746CV2038226single nucleotide variantNM_006939.4(SOS2):c.772T>G (p.Leu258Val)Noonan syndrome 9 [RCV002742007]uncertain significance145018254950182549Human1name
155961295CV2040483single nucleotide variantNM_006939.4(SOS2):c.395C>T (p.Ala132Val)Noonan syndrome 9 [RCV002776279]uncertain significance145019980650199806Human1name
155997028CV2045308single nucleotide variantNM_006939.4(SOS2):c.583G>A (p.Gly195Ser)Noonan syndrome 9 [RCV002756013]uncertain significance145018862850188628Human1name
10406270CV205689single nucleotide variantNM_006939.4(SOS2):c.800T>A (p.Met267Lys)Noonan syndrome 9 [RCV000191031]|RASopathy [RCV004732469]|not provided [RCV003320592]pathogenic|likely pathogenic145018252150182521Human2name
155914431CV2077975deletionNM_006939.4(SOS2):c.2967del (p.Phe989fs)Noonan syndrome 9 [RCV002858730]uncertain significance145013423150134231Human1name
156007988CV2099857single nucleotide variantNM_006939.4(SOS2):c.3684A>T (p.Ile1228=)Noonan syndrome 9 [RCV002908947]likely benign145011865950118659Human1name
156031708CV2116084single nucleotide variantNM_006939.4(SOS2):c.955G>A (p.Ala319Thr)Noonan syndrome 9 [RCV002910094]uncertain significance145018058650180586Human1name
156041887CV2143496single nucleotide variantNM_006939.4(SOS2):c.3849T>C (p.Asn1283=)Noonan syndrome 9 [RCV002999555]likely benign145011849450118494Human1name
156354146CV2154067single nucleotide variantNM_006939.4(SOS2):c.476A>G (p.Gln159Arg)Noonan syndrome 9 [RCV003031101]uncertain significance145019972550199725Human1name
155973827CV2154669single nucleotide variantNM_006939.4(SOS2):c.511G>A (p.Val171Ile)Noonan syndrome 9 [RCV003033556]uncertain significance145018870050188700Human1name
156045084CV2157699single nucleotide variantNM_006939.4(SOS2):c.3645C>G (p.Thr1215=)Noonan syndrome 9 [RCV003019204]likely benign145011869850118698Human1name
156145472CV2178750single nucleotide variantNM_006939.4(SOS2):c.3810A>G (p.Val1270=)Noonan syndrome 9 [RCV003040187]likely benign145011853350118533Human1name
11636657CV264816single nucleotide variantNM_006939.4(SOS2):c.572C>T (p.Pro191Leu)not provided [RCV000272613]uncertain significance145018863950188639Humanname
401748533CV2733670single nucleotide variantNM_006939.4(SOS2):c.727A>G (p.Ile243Val)Cardiovascular phenotype [RCV003301374]uncertain significance145018259450182594Humanname
401748548CV2733677single nucleotide variantNM_006939.4(SOS2):c.685C>A (p.Leu229Ile)Cardiovascular phenotype [RCV003301381]uncertain significance145018852650188526Humanname
401795780CV2741978single nucleotide variantNM_006939.4(SOS2):c.445G>A (p.Val149Ile)not specified [RCV003324154]uncertain significance145019975650199756Humanname
401859062CV2787411single nucleotide variantNM_006939.4(SOS2):c.3597T>G (p.Pro1199=)Cardiovascular phenotype [RCV003380187]likely benign145011874650118746Humanname
12742093CV360061single nucleotide variantNM_006939.4(SOS2):c.674G>A (p.Arg225Gln)Cardiovascular phenotype [RCV002365451]|Noonan syndrome 9 [RCV000693191]|RASopathy [RCV004732474]|not provided [RCV003884517]|not specified [RCV000412844]likely benign|conflicting interpretations of pathogenicity|uncertain significance145018853750188537Human2name
12742661CV360159single nucleotide variantNM_006939.4(SOS2):c.800T>C (p.Met267Thr)Noonan syndrome 9 [RCV001250768]|not provided [RCV000414175]pathogenic145018252150182521Human1name
12847164CV373107single nucleotide variantNM_006939.4(SOS2):c.622G>A (p.Ala208Thr)Cardiovascular phenotype [RCV002365514]|Noonan syndrome 9 [RCV000554272]|Noonan syndrome and Noonan-related syndrome [RCV001813479]|not provided [RCV000586888]benign145018858950188589Human14name
12847164CV373107single nucleotide variantNM_006939.4(SOS2):c.622G>A (p.Ala208Thr)Cardiovascular phenotype [RCV002365514]|Noonan syndrome 9 [RCV000554272]|Noonan syndrome and Noonan-related syndrome [RCV001813479]|not provided [RCV000586888]benign145018858950188590Human14name
12833790CV376063single nucleotide variantNM_006939.4(SOS2):c.3813G>A (p.Pro1271=)Cardiovascular phenotype [RCV002356567]|Noonan syndrome 9 [RCV001518639]|not provided [RCV000589171]|not specified [RCV001195556]benign145011853050118530Human1name
13462138CV438761single nucleotide variantNM_006939.4(SOS2):c.572C>G (p.Pro191Arg)Cardiovascular phenotype [RCV002350134]|Noonan syndrome 9 [RCV000989216]|Noonan syndrome and Noonan-related syndrome [RCV001813488]|not provided [RCV000513780]|not specified [RCV000613515]benign|likely benign145018863950188639Human67name
13471136CV442557single nucleotide variantNM_006939.4(SOS2):c.496A>G (p.Met166Val)Noonan syndrome 9 [RCV000521760]uncertain significance145019970550199705Human1name
13479638CV445232single nucleotide variantNM_006939.4(SOS2):c.842T>C (p.Phe281Ser)Noonan syndrome 9 [RCV003754879]|not provided [RCV000521009]uncertain significance145018247950182479Human1name
13492529CV463276single nucleotide variantNM_006939.4(SOS2):c.3066A>G (p.Pro1022=)Cardiovascular phenotype [RCV002448788]|Noonan syndrome 9 [RCV000535027]benign|likely benign145013413250134132Human1name
13473945CV463796single nucleotide variantNM_006939.4(SOS2):c.549G>C (p.Leu183Phe)Cardiovascular phenotype [RCV002350385]|Noonan syndrome 9 [RCV001079947]|Noonan syndrome [RCV001261119]|Noonan syndrome and Noonan-related syndrome [RCV001813502]|SOS2-related disorder [RCV003935541]|not provided [RCV000586255]|not specified [RCV000608191]benign|likely benign145018866250188662Human2name , alternate_id
13624918CV528193single nucleotide variantNM_006939.4(SOS2):c.533A>C (p.Gln178Pro)Cardiovascular phenotype [RCV004992447]|Noonan syndrome 9 [RCV000652819]uncertain significance145018867850188678Human1name
13624914CV528545single nucleotide variantNM_006939.4(SOS2):c.622G>T (p.Ala208Ser)Noonan syndrome 9 [RCV000652814]|not specified [RCV001175494]conflicting interpretations of pathogenicity|uncertain significance145018858950188589Human1name
13797054CV552805deletionNM_006939.4(SOS2):c.1197-121_1197-119delnot provided [RCV000680929]benign145016020550160207Humanname
13797050CV552810deletionNM_006939.4(SOS2):c.1068+114_1068+117delnot provided [RCV000680927]benign145017433750174340Humanname
13797308CV552828single nucleotide variantNM_006939.4(SOS2):c.536A>G (p.Asp179Gly)not provided [RCV000681116]uncertain significance145018867550188675Humanname
13797256CV552833single nucleotide variantNM_006939.4(SOS2):c.322G>A (p.Asp108Asn)SOS2-related disorder [RCV003392517]|not provided [RCV000681069]uncertain significance145020097650200976Human1name , alternate_id
13804828CV566487single nucleotide variantNM_006939.4(SOS2):c.800T>G (p.Met267Arg)Noonan syndrome 9 [RCV000699741]|Noonan syndrome [RCV001251214]|RASopathy [RCV001264473]|SOS2-related disorder [RCV003411629]|not provided [RCV001575734]pathogenic|likely pathogenic145018252150182521Human3name , alternate_id
13812281CV568928single nucleotide variantNM_006939.4(SOS2):c.839G>C (p.Cys280Ser)Noonan syndrome 9 [RCV000703605]likely benign|uncertain significance145018248250182482Human1name
13821847CV568929single nucleotide variantNM_006939.4(SOS2):c.780G>T (p.Leu260Phe)Cardiovascular phenotype [RCV004993964]|Noonan syndrome 9 [RCV000696464]likely benign|uncertain significance145018254150182541Human1name
13815870CV568931single nucleotide variantNM_006939.4(SOS2):c.721G>A (p.Glu241Lys)Noonan syndrome 9 [RCV000691771]|not provided [RCV004768570]likely benign|conflicting interpretations of pathogenicity|uncertain significance145018260050182600Human1name
14699412CV624488single nucleotide variantNM_006939.4(SOS2):c.973A>T (p.Ile325Phe)not provided [RCV000788764]uncertain significance145017454950174549Humanname
14746865CV672277single nucleotide variantNM_006939.4(SOS2):c.791C>A (p.Thr264Lys)Noonan syndrome 9 [RCV001250766]|Noonan syndrome [RCV000845124]|RASopathy [RCV001269182]|not provided [RCV004588303]pathogenic|likely pathogenic145018253050182530Human3name
15117986CV693499single nucleotide variantNM_006939.4(SOS2):c.3729C>T (p.His1243=)Cardiovascular phenotype [RCV002346014]|Noonan syndrome 9 [RCV002064739]likely benign145011861450118614Human1name
15151773CV702890single nucleotide variantNM_006939.4(SOS2):c.599A>G (p.Tyr200Cys)Cardiovascular phenotype [RCV002354841]|Noonan syndrome 9 [RCV000945752]|SOS2-related disorder [RCV003925854]likely benign|conflicting interpretations of pathogenicity145018861250188612Human1name , alternate_id
15112698CV725671single nucleotide variantNM_006939.4(SOS2):c.3945G>A (p.Ser1315=)Cardiovascular phenotype [RCV004028435]|Noonan syndrome 9 [RCV002065609]likely benign145011839850118398Human1name
15200295CV725672single nucleotide variantNM_006939.4(SOS2):c.3774G>A (p.Ser1258=)Cardiovascular phenotype [RCV003372906]|Noonan syndrome 9 [RCV001452884]|not provided [RCV003884788]|not specified [RCV001532902]likely benign145011856950118569Human1name
15098934CV725673single nucleotide variantNM_006939.4(SOS2):c.3762G>A (p.Thr1254=)Cardiovascular phenotype [RCV002346057]|Noonan syndrome 9 [RCV002468093]likely benign145011858150118581Human1name
15105568CV725674single nucleotide variantNM_006939.4(SOS2):c.3279A>C (p.Pro1093=)Cardiovascular phenotype [RCV002444983]|Noonan syndrome 9 [RCV002065591]likely benign145013055950130559Human1name
15146884CV769808single nucleotide variantNM_006939.4(SOS2):c.3981T>C (p.Asn1327=)Cardiovascular phenotype [RCV002354836]|Noonan syndrome 9 [RCV001477794]likely benign145011836250118362Human1name
15114440CV769809single nucleotide variantNM_006939.4(SOS2):c.3606T>C (p.Ser1202=)Cardiovascular phenotype [RCV002454147]|Noonan syndrome 9 [RCV002066182]likely benign145011873750118737Human1name
15182431CV769810single nucleotide variantNM_006939.4(SOS2):c.3555A>G (p.Val1185=)not provided [RCV000930359]likely benign145011878850118788Humanname
38497966CV957226single nucleotide variantNM_006939.4(SOS2):c.940G>A (p.Ala314Thr)Noonan syndrome 9 [RCV001243522]uncertain significance145018060150180601Human1name
38597743CV964415single nucleotide variantNM_006939.4(SOS2):c.643C>T (p.Arg215Trp)Cardiovascular phenotype [RCV004035328]|Noonan syndrome 9 [RCV001253074]|SOS2-related disorder [RCV003416129]uncertain significance145018856850188568Human1name , alternate_id
126759619CV995854single nucleotide variantNM_006939.4(SOS2):c.523A>C (p.Met175Leu)Noonan syndrome 9 [RCV001299539]uncertain significance145018868850188688Human1name
126725488CV995855single nucleotide variantNM_006939.4(SOS2):c.458G>A (p.Arg153Gln)Noonan syndrome 9 [RCV001302584]likely benign|uncertain significance145019974350199743Human1name
126758732CV995856single nucleotide variantNM_006939.4(SOS2):c.390T>G (p.Ile130Met)Noonan syndrome 9 [RCV001299278]uncertain significance145019981150199811Human1name
126753813CV995857single nucleotide variantNM_006939.4(SOS2):c.364G>A (p.Val122Met)Cardiovascular phenotype [RCV002456395]|Noonan syndrome 9 [RCV001307479]|Noonan syndrome and Noonan-related syndrome [RCV001813589]conflicting interpretations of pathogenicity|uncertain significance145019983750199837Human1name
127330808CV1144622single nucleotide variantNM_006939.4(SOS2):c.2220A>C (p.Gln740His)Cardiovascular phenotype [RCV002432371]|Noonan syndrome 9 [RCV001488369]|SOS2-related disorder [RCV003965993]|not provided [RCV001762699]benign|likely benign145015017250150172Human1alternate_id
127300775CV1157261single nucleotide variantNM_006939.4(SOS2):c.3602A>G (p.His1201Arg)Cardiovascular phenotype [RCV004037925]|Noonan syndrome 9 [RCV001514361]|Noonan syndrome and Noonan-related syndrome [RCV001813601]|SOS2-related disorder [RCV003908825]|not provided [RCV004715442]|not specified [RCV001532949]benign|likely benign145011874150118741Human1alternate_id
151753330CV1480169single nucleotide variantNM_006939.4(SOS2):c.2955G>A (p.Met985Ile)Noonan syndrome 9 [RCV001927744]|SOS2-related disorder [RCV004746497]likely benign|uncertain significance145013861550138615Human1alternate_id
151763354CV1503175single nucleotide variantNM_006939.4(SOS2):c.1714G>A (p.Val572Ile)Cardiovascular phenotype [RCV004044057]|Noonan syndrome 9 [RCV001914245]|SOS2-related disorder [RCV004746510]likely benign|uncertain significance145015956950159569Human1alternate_id
156406272CV1894843single nucleotide variantNM_006939.4(SOS2):c.3332C>T (p.Ser1111Phe)Noonan syndrome 9 [RCV003070299]|SOS2-related disorder [RCV003926695]uncertain significance145013050650130506Human1alternate_id
156397254CV1934316single nucleotide variantNM_006939.4(SOS2):c.1499G>C (p.Cys500Ser)Cardiovascular phenotype [RCV004673828]|Noonan syndrome 9 [RCV002655054]|SOS2-related disorder [RCV004747230]likely benign|uncertain significance145015978450159784Human1alternate_id
401902753CV2795906single nucleotide variantNM_006939.4(SOS2):c.2522A>G (p.Glu841Gly)Cardiovascular phenotype [RCV004992600]|Noonan syndrome 9 [RCV005104297]|SOS2-related disorder [RCV003399645]uncertain significance145014531550145315Human1alternate_id
401902761CV2796112single nucleotide variantNM_006939.4(SOS2):c.3773C>T (p.Ser1258Leu)Noonan syndrome 9 [RCV003778194]|SOS2-related disorder [RCV003399808]likely benign|uncertain significance145011857050118570Human1alternate_id
401904147CV2797081deletionNM_006939.4(SOS2):c.2548_2554del (p.Leu850fs)SOS2-related disorder [RCV003416896]uncertain significance145014528350145289Humantrait , alternate_id
401902598CV2800036single nucleotide variantNM_006939.4(SOS2):c.523A>G (p.Met175Val)Noonan syndrome 9 [RCV003592037]|SOS2-related disorder [RCV003394485]uncertain significance145018868850188688Human1alternate_id
401904303CV2800365single nucleotide variantNM_006939.4(SOS2):c.3655G>A (p.Val1219Ile)Noonan syndrome 9 [RCV003778180]|SOS2-related disorder [RCV003420688]uncertain significance145011868850118688Human1alternate_id
402518183CV2893069single nucleotide variantNM_006939.4(SOS2):c.3901C>T (p.His1301Tyr)Noonan syndrome 9 [RCV003593109]|SOS2-related disorder [RCV003980993]likely benign145011844250118442Human1alternate_id
405274924CV3191843single nucleotide variantNM_006939.4(SOS2):c.868T>C (p.Phe290Leu)SOS2-related disorder [RCV003931827]uncertain significance145018067350180673Humantrait , alternate_id
405280095CV3197454single nucleotide variantNM_006939.4(SOS2):c.1306G>A (p.Gly436Arg)SOS2-related disorder [RCV003982550]uncertain significance145015997750159977Humantrait , alternate_id
405271912CV3198024single nucleotide variantNM_006939.4(SOS2):c.2653G>A (p.Asp885Asn)SOS2-related disorder [RCV003899834]uncertain significance145014518450145184Humantrait , alternate_id
408376025CV3505479single nucleotide variantNM_006939.4(SOS2):c.1960A>G (p.Thr654Ala)SOS2-related disorder [RCV004726508]uncertain significance145015709650157096Humantrait , alternate_id
408379861CV3505897single nucleotide variantNM_006939.4(SOS2):c.1358C>G (p.Ala453Gly)SOS2-related disorder [RCV004728598]uncertain significance145015992550159925Humantrait , alternate_id
408379733CV3505949single nucleotide variantNM_006939.4(SOS2):c.814A>C (p.Ser272Arg)SOS2-related disorder [RCV004728634]uncertain significance145018250750182507Humantrait , alternate_id
408375071CV3509321single nucleotide variantNM_006939.4(SOS2):c.763G>C (p.Val255Leu)SOS2-related disorder [RCV004747712]uncertain significance145018255850182558Humantrait , alternate_id
408375304CV3511344single nucleotide variantNM_006939.4(SOS2):c.2129A>G (p.Glu710Gly)Noonan syndrome 9 [RCV005103764]|SOS2-related disorder [RCV004747984]uncertain significance145015310250153102Human1alternate_id
408373837CV3512644single nucleotide variantNM_006939.4(SOS2):c.1764C>G (p.Asp588Glu)SOS2-related disorder [RCV004745724]uncertain significance145015951950159519Humantrait , alternate_id
408374613CV3517538single nucleotide variantNM_006939.4(SOS2):c.1190G>A (p.Arg397Gln)SOS2-related disorder [RCV004746945]uncertain significance145016148850161488Humantrait , alternate_id
12848769CV364005single nucleotide variantNM_006939.4(SOS2):c.2317G>C (p.Asp773His)Cardiovascular phenotype [RCV004022272]|Noonan syndrome 9 [RCV001085844]|Noonan syndrome [RCV001261126]|SOS2-related disorder [RCV003950337]|not provided [RCV000417876]|not specified [RCV001328386]benign|likely benign145015007550150075Human2alternate_id
13462935CV439007deletionNM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)Noonan syndrome 9 [RCV001088680]|RASopathy [RCV004732479]|SOS2-related disorder [RCV003960210]|not provided [RCV000515109]|not specified [RCV001251288]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance145011858650118588Human2alternate_id
13495875CV463257single nucleotide variantNM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys)Cardiovascular phenotype [RCV004678750]|Noonan syndrome 9 [RCV000537448]|Noonan syndrome and Noonan-related syndrome [RCV001813501]|SOS2-related disorder [RCV003935540]|not provided [RCV003392403]|not specified [RCV000613957]benign|likely benign145011859950118599Human1alternate_id
13490397CV463782single nucleotide variantNM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser)Cardiovascular phenotype [RCV002358610]|Noonan syndrome 9 [RCV000555942]|SOS2-related disorder [RCV003962607]|not provided [RCV001644664]|not specified [RCV001175493]benign|likely benign145011839150118391Human1alternate_id
13501719CV464103single nucleotide variantNM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro)Cardiovascular phenotype [RCV002367952]|Noonan syndrome 9 [RCV000541220]|SOS2-related disorder [RCV003945323]|not provided [RCV001683588]|not specified [RCV001584349]benign|likely benign145011851350118513Human1alternate_id
13503929CV464108single nucleotide variantNM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr)Cardiovascular phenotype [RCV002456250]|Noonan syndrome 9 [RCV000549002]|SOS2-related disorder [RCV003900234]likely benign|uncertain significance145011884050118840Human1alternate_id
13624915CV528171single nucleotide variantNM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp)Noonan syndrome 9 [RCV000652815]|SOS2-related disorder [RCV003918081]|not provided [RCV003392500]|not specified [RCV001805782]likely benign|uncertain significance145011857450118574Human1alternate_id
13624920CV528190single nucleotide variantNM_006939.4(SOS2):c.2854G>A (p.Asp952Asn)Cardiovascular phenotype [RCV002440369]|Noonan syndrome 9 [RCV000652821]|Noonan syndrome and Noonan-related syndrome [RCV001813537]|SOS2-related disorder [RCV003965406]|not provided [RCV003403501]|not specified [RCV001193657]benign|likely benign145013871650138716Human1alternate_id
13624978CV528196single nucleotide variantNM_006939.4(SOS2):c.1868G>A (p.Arg623His)Noonan syndrome 9 [RCV000652818]|SOS2-related disorder [RCV004745534]uncertain significance145015863150158631Human1alternate_id
13624996CV528522single nucleotide variantNM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala)Cardiovascular phenotype [RCV002325312]|Noonan syndrome 9 [RCV000652827]|SOS2-related disorder [RCV003928135]|not specified [RCV001174921]benign|likely benign145013058850130588Human1alternate_id
13625014CV528664single nucleotide variantNM_006939.4(SOS2):c.1521G>T (p.Glu507Asp)Noonan syndrome 9 [RCV000652830]|SOS2-related disorder [RCV003945673]|not provided [RCV001613429]benign|likely benign145015976250159762Human1alternate_id
13797774CV552775single nucleotide variantNM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser)Cardiovascular phenotype [RCV003303104]|Noonan syndrome 9 [RCV001058885]|SOS2-related disorder [RCV003392518]|not provided [RCV000681418]|not specified [RCV003987662]likely benign|uncertain significance145013076250130762Human1alternate_id
13797267CV552803single nucleotide variantNM_006939.4(SOS2):c.1550A>G (p.Lys517Arg)Cardiovascular phenotype [RCV004026166]|SOS2-related disorder [RCV003983166]|not provided [RCV000681081]uncertain significance145015973350159733Human1alternate_id
13808501CV572804single nucleotide variantNM_006939.4(SOS2):c.2605G>A (p.Val869Ile)Noonan syndrome 9 [RCV000701667]|SOS2-related disorder [RCV003928173]|not specified [RCV002282338]benign|likely benign|uncertain significance145014523250145232Human1alternate_id
14720119CV642475single nucleotide variantNM_006939.4(SOS2):c.2758A>G (p.Ile920Val)Noonan syndrome 9 [RCV000796489]|SOS2-related disorder [RCV003396384]|not specified [RCV003396383]uncertain significance145013996950139969Human1alternate_id
14707669CV642477single nucleotide variantNM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)Cardiovascular phenotype [RCV004994008]|Noonan syndrome 9 [RCV000792384]|SOS2-related disorder [RCV003965585]|not specified [RCV003235396]likely benign|conflicting interpretations of pathogenicity|uncertain significance145015002650150026Human1alternate_id
15139206CV693500single nucleotide variantNM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu)Cardiovascular phenotype [RCV002454049]|Noonan syndrome 9 [RCV000877280]|SOS2-related disorder [RCV003948254]|not provided [RCV004704259]benign|likely benign145011872950118729Human1alternate_id
15183677CV725675single nucleotide variantNM_006939.4(SOS2):c.1889G>A (p.Arg630His)Noonan syndrome 9 [RCV000886277]|SOS2-related disorder [RCV003930668]|not specified [RCV005236396]likely benign145015861050158610Human1alternate_id
26912513CV841528single nucleotide variantNM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser)Cardiovascular phenotype [RCV003160252]|Noonan syndrome 9 [RCV001039408]|SOS2-related disorder [RCV003396638]uncertain significance145013056150130561Human1alternate_id
40889485CV972594single nucleotide variantNM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)Cardiovascular phenotype [RCV004035418]|Noonan syndrome 9 [RCV001365570]|SOS2-related disorder [RCV004746300]|not specified [RCV001264556]conflicting interpretations of pathogenicity|uncertain significance145011855550118555Human1alternate_id
40887718CV973924single nucleotide variantNM_006939.4(SOS2):c.1648C>G (p.Arg550Gly)Cardiovascular phenotype [RCV004035426]|Noonan syndrome 9 [RCV002290676]|SOS2-related disorder [RCV003908485]likely pathogenic|uncertain significance145015963550159635Human1alternate_id
34892059CV915087insertionNM_006939.4(SOS2):c.2786-17_2786-16insTCnot specified [RCV001175491]likely benign145013880050138801Humanname
150505244CV1255421insertionNM_006939.4(SOS2):c.1069-190_1069-189insGnot provided [RCV001677868]benign145016179850161799Humanname
156240795CV2053087indelNM_006939.4(SOS2):c.2785+18_2785+19delinsTTNoonan syndrome 9 [RCV002791345]uncertain significance145013992350139924Humanname
13796873CV552821insertionNM_006939.4(SOS2):c.858+174_858+175insGGACTGCTTGnot provided [RCV000680858]benign145018228850182289Humanname