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369 records found for search term Rit1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
10044317CV188133single nucleotide variantRIT1, PHE82VALNoonan syndrome 8 [RCV000170492]pathogenicHumanname
8572565CV75094single nucleotide variantRIT1, GLU81GLYNoonan syndrome 8 [RCV000054405]pathogenicHumanname
8572566CV75095single nucleotide variantRIT1, PHE82LEUNoonan syndrome 8 [RCV000054406]pathogenicHumanname
156434764CV2403103single nucleotide variantNM_006912.6(RIT1):c.*9T>Cnot provided [RCV003127059]likely benign1155900379155900379Humanname
11094716CV228267single nucleotide variantNM_006912.6(RIT1):c.-21G>CNoonan syndrome 8 [RCV001795347]|not provided [RCV000589936]|not specified [RCV000221405]benign1155910782155910782Human1name
13541542CV498099single nucleotide variantNM_006912.6(RIT1):c.-30G>Anot specified [RCV000616306]likely benign1155910791155910791Humanname
13797524CV552498single nucleotide variantNM_006912.6(RIT1):c.-91T>Gnot provided [RCV000681292]likely benign1155911290155911290Humanname
150452868CV1203680single nucleotide variantNM_006912.6(RIT1):c.163+6C>ANoonan syndrome 8 [RCV001591636]uncertain significance1155910444155910444Human1name
151859463CV1403585duplicationNM_006912.6(RIT1):c.238-2dupNoonan syndrome 8 [RCV001979937]uncertain significance1155904503155904504Human1name
9833432CV178910single nucleotide variantNM_006912.6(RIT1):c.430-7C>TNoonan syndrome 8 [RCV001513007]|not provided [RCV000590610]|not specified [RCV000179468]benign1155900625155900625Human1name
156047258CV2144259single nucleotide variantNM_006912.6(RIT1):c.164-5T>CNoonan syndrome 8 [RCV002999751]likely benign1155904809155904809Human1name
156331791CV2181118single nucleotide variantNM_006912.6(RIT1):c.429+9A>GNoonan syndrome 8 [RCV003047261]likely benign1155904302155904302Human1name
405091438CV2916639single nucleotide variantNM_006912.6(RIT1):c.238-9T>ANoonan syndrome 8 [RCV003582911]likely benign1155904511155904511Human1name
405058873CV2944221single nucleotide variantNM_006912.6(RIT1):c.107-9C>ANoonan syndrome 8 [RCV003741402]likely benign1155910515155910515Human1name
405059052CV2947809single nucleotide variantNM_006912.6(RIT1):c.107-6T>GNoonan syndrome 8 [RCV003741416]likely benign1155910512155910512Human1name
405213123CV3127593single nucleotide variantNM_006912.6(RIT1):c.237+9T>CNoonan syndrome 8 [RCV003823641]likely benign1155904722155904722Human1name
597905733CV3826625single nucleotide variantNM_006912.6(RIT1):c.164-6C>TNoonan syndrome 8 [RCV005180758]likely benign1155904810155904810Human1name
597926610CV3853899single nucleotide variantNM_006912.6(RIT1):c.164-5T>ANoonan syndrome 8 [RCV005201182]uncertain significance1155904809155904809Human1name
13436052CV433891single nucleotide variantNM_006912.6(RIT1):c.163+7C>Tnot specified [RCV000506483]benign1155910443155910443Humanname
13531723CV498063single nucleotide variantNM_006912.6(RIT1):c.237+8A>Gnot specified [RCV000601141]likely benign1155904723155904723Humanname
15097687CV689631single nucleotide variantNM_006912.6(RIT1):c.107-9C>GNoonan syndrome 8 [RCV000869511]|RIT1-related disorder [RCV003895303]|not provided [RCV001593088]|not specified [RCV001201325]benign|likely benign1155910515155910515Human1name , trait , alternate_id
15188091CV774387single nucleotide variantNM_006912.6(RIT1):c.430-5T>CNoonan syndrome 8 [RCV002542252]|not specified [RCV004782604]likely benign|uncertain significance1155900623155900623Human1name
26913191CV850933single nucleotide variantNM_006912.6(RIT1):c.163+5G>TNoonan syndrome 8 [RCV001039884]uncertain significance1155910445155910445Human1name
150406818CV1175760single nucleotide variantNM_006912.6(RIT1):c.238-32G>Anot provided [RCV001545382]likely benign1155904534155904534Humanname
150485228CV1262051single nucleotide variantNM_006912.6(RIT1):c.163+82A>Gnot provided [RCV001686742]benign1155910368155910368Humanname
150474406CV1263357single nucleotide variantNM_006912.6(RIT1):c.164-52C>Tnot provided [RCV001684879]benign1155904856155904856Humanname
150460191CV1268458single nucleotide variantNM_006912.6(RIT1):c.237+31G>Anot provided [RCV001693455]benign1155904700155904700Humanname
150445926CV1278234single nucleotide variantNM_006912.6(RIT1):c.106+56A>Gnot provided [RCV001707377]benign1155910600155910600Humanname
152110684CV1537029single nucleotide variantNM_006912.6(RIT1):c.237+14G>CNoonan syndrome 8 [RCV002215442]likely benign1155904717155904717Human1name
152121746CV1547629single nucleotide variantNM_006912.6(RIT1):c.164-11C>TNoonan syndrome 8 [RCV002081646]likely benign1155904815155904815Human1name
152138612CV1572306single nucleotide variantNM_006912.6(RIT1):c.163+12C>ANoonan syndrome 8 [RCV002219071]likely benign1155910438155910438Human1name
152074803CV1599278single nucleotide variantNM_006912.6(RIT1):c.238-19G>ANoonan syndrome 8 [RCV002075584]likely benign1155904521155904521Human1name
152105499CV1622914single nucleotide variantNM_006912.6(RIT1):c.238-16C>TNoonan syndrome 8 [RCV002214750]likely benign1155904518155904518Human1name
152071489CV1643440single nucleotide variantNM_006912.6(RIT1):c.429+20T>CNoonan syndrome 8 [RCV002111512]likely benign1155904291155904291Human1name
9833433CV178912single nucleotide variantNM_006912.6(RIT1):c.-43-74G>ANoonan syndrome 8 [RCV005394545]|not specified [RCV000601244]likely benign|uncertain significance1155910878155910878Human1name
156377910CV1876591single nucleotide variantNM_006912.6(RIT1):c.430-16C>TNoonan syndrome 8 [RCV003066898]likely benign1155900634155900634Human1name
156251754CV1883826single nucleotide variantNM_006912.6(RIT1):c.429+15G>ANoonan syndrome 8 [RCV003086127]likely benign1155904296155904296Human1name
156158094CV1926363single nucleotide variantNM_006912.6(RIT1):c.107-12C>TNoonan syndrome 8 [RCV002624258]likely benign1155910518155910518Human1name
156445851CV1952097single nucleotide variantNM_006912.6(RIT1):c.237+18G>ANoonan syndrome 8 [RCV003116812]likely benign1155904713155904713Human1name
156066367CV1971715single nucleotide variantNM_006912.6(RIT1):c.430-18C>TNoonan syndrome 8 [RCV002621112]likely benign1155900636155900636Human1name
155912926CV2081398single nucleotide variantNM_006912.6(RIT1):c.163+17C>GNoonan syndrome 8 [RCV002858619]likely benign1155910433155910433Human1name
156196555CV2083139single nucleotide variantNM_006912.6(RIT1):c.430-18C>ANoonan syndrome 8 [RCV002852314]likely benign1155900636155900636Human1name
156129086CV2125053single nucleotide variantNM_006912.6(RIT1):c.163+16A>CNoonan syndrome 8 [RCV002953808]likely benign1155910434155910434Human1name
156392889CV2185333single nucleotide variantNM_006912.6(RIT1):c.163+12C>TNoonan syndrome 8 [RCV003051520]likely benign1155910438155910438Human1name
405086207CV2875778single nucleotide variantNM_006912.6(RIT1):c.237+11C>ANoonan syndrome 8 [RCV003582479]likely benign1155904720155904720Human1name
405063989CV2988066single nucleotide variantNM_006912.6(RIT1):c.237+19T>ANoonan syndrome 8 [RCV003741823]likely benign1155904712155904712Human1name
405065654CV2998070single nucleotide variantNM_006912.6(RIT1):c.164-18C>GNoonan syndrome 8 [RCV003741956]likely benign1155904822155904822Human1name
405252271CV3177877single nucleotide variantNM_006912.6(RIT1):c.163+10A>GNoonan syndrome 8 [RCV003870657]|not specified [RCV004801421]likely benign|uncertain significance1155910440155910440Human1name
405270802CV3219811single nucleotide variantNM_006912.6(RIT1):c.-43-86T>CRIT1-related disorder [RCV003971542]likely benign1155910890155910890Humanname , trait , alternate_id
405281494CV3224163single nucleotide variantNM_006912.6(RIT1):c.238-12G>CNoonan syndrome 8 [RCV005103162]|not specified [RCV003988545]likely benign1155904514155904514Human1name
12841872CV364448single nucleotide variantNM_006912.6(RIT1):c.-43-18T>Cnot specified [RCV000433356]likely benign1155910822155910822Humanname
597858655CV3788343duplicationNM_006912.6(RIT1):c.430-11dupNoonan syndrome 8 [RCV005133018]benign1155900628155900629Human1name
597887140CV3818002single nucleotide variantNM_006912.6(RIT1):c.164-10C>TNoonan syndrome 8 [RCV005162453]likely benign1155904814155904814Human1name
597922902CV3849533single nucleotide variantNM_006912.6(RIT1):c.163+17C>TNoonan syndrome 8 [RCV005197714]likely benign1155910433155910433Human1name
598127793CV3882886single nucleotide variantNM_006912.6(RIT1):c.106+16C>TNoonan syndrome 8 [RCV005234418]likely benign1155910640155910640Human1name
13483046CV447226single nucleotide variantNM_006912.6(RIT1):c.237+10C>ANoonan syndrome 8 [RCV001085363]|not provided [RCV000587028]|not specified [RCV000604079]benign|likely benign1155904721155904721Human1name
13537039CV498065single nucleotide variantNM_006912.6(RIT1):c.106+15C>TNoonan syndrome 8 [RCV002066874]|not specified [RCV000609839]benign|likely benign1155910641155910641Human1name
13541174CV498093deletionNM_006912.6(RIT1):c.237+12delNoonan syndrome 8 [RCV002064280]|not specified [RCV000615784]likely benign1155904719155904719Human1name
13796676CV552497single nucleotide variantNM_006912.6(RIT1):c.-44+82C>Tnot provided [RCV000680695]benign1155911161155911161Humanname
15107825CV695004single nucleotide variantNM_006912.6(RIT1):c.106+10A>GNoonan syndrome 8 [RCV001409878]likely benign1155910646155910646Human1name
150333497CV1170594single nucleotide variantNM_006912.6(RIT1):c.429+178T>Gnot provided [RCV001539525]likely benign1155904133155904133Humanname
150404407CV1192715single nucleotide variantNM_006912.6(RIT1):c.429+150G>Tnot provided [RCV001571135]likely benign1155904161155904161Humanname
150513766CV1213879single nucleotide variantNM_006912.6(RIT1):c.163+219T>Gnot provided [RCV001598615]likely benign1155910231155910231Humanname
13796837CV552490single nucleotide variantNM_006912.6(RIT1):c.429+142T>Cnot provided [RCV000680799]benign1155904169155904169Humanname
13796996CV552495single nucleotide variantNM_006912.6(RIT1):c.163+233C>Gnot provided [RCV000680917]benign1155910217155910217Humanname
13796779CV552496duplicationNM_006912.6(RIT1):c.-43-166dupnot provided [RCV000680750]benign1155910963155910964Humanname
8574918CV109257single nucleotide variantNM_006912.5(RIT1):c.164-2531C>TLung cancer [RCV000089782]uncertain significance1155907335155907335Humanname
13796722CV552493microsatelliteNM_006912.6(RIT1):c.237+90CT[2]not provided [RCV000680720]likely benign1155904636155904637Humanname
405074138CV3047695single nucleotide variantNM_006912.6(RIT1):c.18C>T (p.Arg6=)Cardiovascular phenotype [RCV004661740]|Noonan syndrome 8 [RCV003742587]likely benign1155910744155910744Human1name
151820703CV1365349single nucleotide variantNM_006912.6(RIT1):c.4G>A (p.Asp2Asn)Noonan syndrome 8 [RCV001879186]uncertain significance1155910758155910758Human1name
151861416CV1369331single nucleotide variantNM_006912.6(RIT1):c.7T>G (p.Ser3Ala)Noonan syndrome 8 [RCV002034404]uncertain significance1155910755155910755Human1name
152061274CV1597178single nucleotide variantNM_006912.6(RIT1):c.99G>A (p.Gly33=)Cardiovascular phenotype [RCV002382472]|Noonan syndrome 8 [RCV002208680]likely benign1155910663155910663Human1name
152114895CV1640855single nucleotide variantNM_006912.6(RIT1):c.72A>G (p.Leu24=)Noonan syndrome 8 [RCV002117048]likely benign1155910690155910690Human1name
156441897CV1941550single nucleotide variantNM_006912.6(RIT1):c.93T>C (p.Gly31=)Noonan syndrome 8 [RCV003112230]likely benign1155910669155910669Human1name
405075889CV2901372single nucleotide variantNM_006912.6(RIT1):c.48T>C (p.Ala16=)Noonan syndrome 8 [RCV003581445]likely benign1155910714155910714Human1name
405066669CV2992968deletionNM_006912.6(RIT1):c.107-13_107-10delNoonan syndrome 8 [RCV003742034]likely benign1155910516155910519Human1name
405069017CV3013938single nucleotide variantNM_006912.6(RIT1):c.45C>T (p.Pro15=)Noonan syndrome 8 [RCV003742230]|not provided [RCV004723427]likely benign1155910717155910717Human1name
405213906CV3169947duplicationNM_006912.6(RIT1):c.164-27_164-17dupNoonan syndrome 8 [RCV003862551]likely benign1155904820155904821Human1name
597959500CV3752328duplicationNM_006912.6(RIT1):c.163+16_163+18dupNoonan syndrome 8 [RCV005081278]likely benign1155910431155910432Human1name
597855365CV3789785deletionNM_006912.6(RIT1):c.237+15_237+50delNoonan syndrome 8 [RCV005129880]uncertain significance1155904681155904716Human1name
597874053CV3813246single nucleotide variantNM_006912.6(RIT1):c.33C>T (p.Cys11=)Noonan syndrome 8 [RCV005149182]likely benign1155910729155910729Human1name
597903603CV3822996deletionNM_006912.6(RIT1):c.164-21_164-16delNoonan syndrome 8 [RCV005178322]uncertain significance1155904820155904825Human1name
13536193CV496143single nucleotide variantNM_006912.6(RIT1):c.45C>G (p.Pro15=)Cardiovascular phenotype [RCV002341540]|Noonan syndrome 8 [RCV002062142]|Noonan syndrome and Noonan-related syndrome [RCV001813515]|not provided [RCV001562383]|not specified [RCV000608640]likely benign|uncertain significance1155910717155910717Human1name
151848648CV1362255single nucleotide variantNM_006912.6(RIT1):c.10G>C (p.Gly4Arg)Noonan syndrome 8 [RCV001937057]uncertain significance1155910752155910752Human1name
151800798CV1373186single nucleotide variantNM_006912.6(RIT1):c.11G>A (p.Gly4Glu)Cardiovascular phenotype [RCV004656689]|Noonan syndrome 8 [RCV001932288]uncertain significance1155910751155910751Human1name
152073924CV1638094single nucleotide variantNM_006912.6(RIT1):c.291C>A (p.Ile97=)Cardiovascular phenotype [RCV002441271]|Noonan syndrome 8 [RCV002192161]likely benign1155904449155904449Human1name
155730201CV1780753single nucleotide variantNM_006912.6(RIT1):c.264G>A (p.Gln88=)Cardiovascular phenotype [RCV004656919]|Noonan syndrome 8 [RCV003099108]|not specified [RCV002308537]likely benign1155904476155904476Human1name
155679326CV1810834single nucleotide variantNM_006912.6(RIT1):c.120G>A (p.Gln40=)Cardiovascular phenotype [RCV002353182]|Noonan syndrome 8 [RCV003108040]likely benign1155910493155910493Human1name
155732691CV1834077single nucleotide variantNM_006912.6(RIT1):c.162T>A (p.Ile54=)Cardiovascular phenotype [RCV002401261]|Noonan syndrome 8 [RCV003097036]likely benign|uncertain significance1155910451155910451Human1name
155696329CV1840992single nucleotide variantNM_006912.6(RIT1):c.108C>T (p.Ala36=)Cardiovascular phenotype [RCV002443887]|Noonan syndrome 8 [RCV003581868]likely benign1155910505155910505Human1name
155706499CV1850941single nucleotide variantNM_006912.6(RIT1):c.22G>T (p.Val8Phe)Cardiovascular phenotype [RCV002446313]|Noonan syndrome 8 [RCV003741315]uncertain significance1155910740155910740Human1name
156442404CV1938630single nucleotide variantNM_006912.6(RIT1):c.261C>T (p.Asp87=)Noonan syndrome 8 [RCV003112745]likely benign1155904479155904479Human1name
156408702CV1954485single nucleotide variantNM_006912.6(RIT1):c.17G>C (p.Arg6Pro)Noonan syndrome 8 [RCV002586590]uncertain significance1155910745155910745Human1name
155997463CV2045338single nucleotide variantNM_006912.6(RIT1):c.258G>A (p.Arg86=)Noonan syndrome 8 [RCV002756034]likely benign1155904482155904482Human1name
11542319CV249417single nucleotide variantNM_006912.6(RIT1):c.252C>T (p.Ala84=)Cardiovascular phenotype [RCV003372672]|Noonan syndrome 8 [RCV002058000]|not specified [RCV000247487]likely benign1155904488155904488Human1name
405063963CV2987975single nucleotide variantNM_006912.6(RIT1):c.14C>T (p.Thr5Ile)Noonan syndrome 8 [RCV003741821]uncertain significance1155910748155910748Human1name
405053590CV3058901single nucleotide variantNM_006912.6(RIT1):c.273G>A (p.Arg91=)Cardiovascular phenotype [RCV004661751]|Noonan syndrome 8 [RCV003740850]likely benign1155904467155904467Human1name
405054221CV3063818single nucleotide variantNM_006912.6(RIT1):c.23T>C (p.Val8Ala)Noonan syndrome 8 [RCV003740770]|RIT1-related disorder [RCV003909118]uncertain significance1155910739155910739Human1name , trait , alternate_id
405279806CV3217424deletionNM_006912.6(RIT1):c.-43-106_-43-88delRIT1-related disorder [RCV003976843]|not specified [RCV004801428]likely benign1155910892155910910Human1name , trait , alternate_id
405680550CV3390460single nucleotide variantNM_006912.6(RIT1):c.204T>C (p.Pro68=)Cardiovascular phenotype [RCV004517224]likely benign1155904764155904764Humanname
408390945CV3521118single nucleotide variantNM_006912.6(RIT1):c.22G>A (p.Val8Ile)not provided [RCV004762940]uncertain significance1155910740155910740Humanname
12839806CV364439single nucleotide variantNM_006912.6(RIT1):c.141A>G (p.Pro47=)Noonan syndrome 8 [RCV005090876]|not provided [RCV000429516]likely benign1155910472155910472Human1name
597864568CV3795204single nucleotide variantNM_006912.6(RIT1):c.246T>C (p.Phe82=)Noonan syndrome 8 [RCV005138896]likely benign1155904494155904494Human1name
597907503CV3829838single nucleotide variantNM_006912.6(RIT1):c.159C>T (p.Thr53=)Noonan syndrome 8 [RCV005182407]likely benign1155910454155910454Human1name
597901988CV3835530single nucleotide variantNM_006912.6(RIT1):c.285G>A (p.Gly95=)Noonan syndrome 8 [RCV005176522]likely benign1155904455155904455Human1name
597913294CV3847684single nucleotide variantNM_006912.6(RIT1):c.156C>A (p.Pro52=)Noonan syndrome 8 [RCV005188412]likely benign1155910457155910457Human1name
616937355CV4011002single nucleotide variantNM_006912.6(RIT1):c.129C>T (p.Ser43=)not specified [RCV005404846]likely benign1155910484155910484Humanname
14736485CV626900single nucleotide variantNM_006912.6(RIT1):c.13A>T (p.Thr5Ser)Cardiovascular phenotype [RCV002390686]|Noonan syndrome 8 [RCV000820043]uncertain significance1155910749155910749Human1name
15103938CV685571single nucleotide variantNM_006912.6(RIT1):c.231T>C (p.Ala77=)Cardiovascular phenotype [RCV002442854]|Noonan syndrome 8 [RCV003344099]|RIT1-related disorder [RCV004745625]likely benign1155904737155904737Human1name , trait , alternate_id
15182537CV696148single nucleotide variantNM_006912.6(RIT1):c.156C>T (p.Pro52=)Cardiovascular phenotype [RCV002400108]|Noonan syndrome 8 [RCV003346225]|not provided [RCV000952241]likely benign1155910457155910457Human1name
15113634CV745727single nucleotide variantNM_006912.6(RIT1):c.201G>A (p.Glu67=)Cardiovascular phenotype [RCV005268811]|Noonan syndrome 8 [RCV005092732]likely benign1155904767155904767Human1name
127240991CV1066293single nucleotide variantNM_006912.6(RIT1):c.498A>C (p.Ala166=)Cardiovascular phenotype [RCV002341899]|Noonan syndrome 8 [RCV001415665]|RIT1-related disorder [RCV004746376]|not provided [RCV001788471]likely benign1155900550155900550Human1name , trait , alternate_id
127306446CV1109548single nucleotide variantNM_006912.6(RIT1):c.321T>C (p.Ser107=)Noonan syndrome 8 [RCV001455523]likely benign1155904419155904419Human1name
127303585CV1130449single nucleotide variantNM_006912.6(RIT1):c.603C>T (p.Asn201=)Noonan syndrome 8 [RCV001479278]likely benign1155900445155900445Human1name
150418014CV1192716single nucleotide variantNM_006912.6(RIT1):c.309G>A (p.Thr103=)Noonan syndrome 8 [RCV002568450]|not provided [RCV001569023]likely benign|uncertain significance1155904431155904431Human1name
150516928CV1227367duplicationNM_006912.6(RIT1):c.-43-166_-43-165dupnot provided [RCV001639468]benign1155910963155910964Humanname
151862600CV1409096single nucleotide variantNM_006912.6(RIT1):c.35G>A (p.Cys12Tyr)Noonan syndrome 8 [RCV001905488]uncertain significance1155910727155910727Human1name
151721058CV1494629single nucleotide variantNM_006912.6(RIT1):c.510T>C (p.Tyr170=)Cardiovascular phenotype [RCV003170192]|Noonan syndrome 8 [RCV001965984]likely benign1155900538155900538Human1name
152055707CV1539033single nucleotide variantNM_006912.6(RIT1):c.552G>A (p.Arg184=)Noonan syndrome 8 [RCV002208054]likely benign1155900496155900496Human1name
152171088CV1552563single nucleotide variantNM_006912.6(RIT1):c.381A>C (p.Thr127=)Cardiovascular phenotype [RCV002363677]|Noonan syndrome 8 [RCV002143333]likely benign1155904359155904359Human1name
152061260CV1559312single nucleotide variantNM_006912.6(RIT1):c.564G>A (p.Glu188=)Noonan syndrome 8 [RCV002168028]likely benign1155900484155900484Human1name
152111532CV1618428single nucleotide variantNM_006912.6(RIT1):c.492T>C (p.Ser164=)Noonan syndrome 8 [RCV002080316]likely benign1155900556155900556Human1name
152142139CV1629060single nucleotide variantNM_006912.6(RIT1):c.423A>G (p.Leu141=)Cardiovascular phenotype [RCV002331724]|Noonan syndrome 8 [RCV002100921]likely benign1155904317155904317Human1name
152165542CV1649315single nucleotide variantNM_006912.6(RIT1):c.516T>C (p.Asp172=)Cardiovascular phenotype [RCV002337405]|Noonan syndrome 8 [RCV002204264]likely benign1155900532155900532Human1name
153302569CV1688300single nucleotide variantNM_006912.6(RIT1):c.67A>G (p.Lys23Glu)Noonan syndrome 8 [RCV002265526]pathogenic1155910695155910695Human1name
155266522CV1699090single nucleotide variantNM_006912.6(RIT1):c.29G>T (p.Ser10Ile)not specified [RCV002282884]uncertain significance1155910733155910733Humanname
155704205CV1787552single nucleotide variantNM_006912.6(RIT1):c.408A>G (p.Ser136=)Cardiovascular phenotype [RCV002323179]|Noonan syndrome 8 [RCV003741302]|RIT1-related disorder [RCV004747075]likely benign1155904332155904332Human1name , trait , alternate_id
155725768CV1790978single nucleotide variantNM_006912.6(RIT1):c.41G>A (p.Ser14Asn)Cardiovascular phenotype [RCV002327856]uncertain significance1155910721155910721Humanname
155725790CV1790981single nucleotide variantNM_006912.6(RIT1):c.41G>T (p.Ser14Ile)Cardiovascular phenotype [RCV002327859]uncertain significance1155910721155910721Humanname
155703131CV1791479single nucleotide variantNM_006912.6(RIT1):c.441A>G (p.Glu147=)Cardiovascular phenotype [RCV002333868]|Noonan syndrome 8 [RCV003094690]likely benign1155900607155900607Human1name
155744576CV1793206single nucleotide variantNM_006912.6(RIT1):c.364C>A (p.Arg122=)Cardiovascular phenotype [RCV002346642]likely benign1155904376155904376Humanname
155746923CV1800405single nucleotide variantNM_006912.6(RIT1):c.573G>C (p.Leu191=)Cardiovascular phenotype [RCV002347777]likely benign1155900475155900475Humanname
155705322CV1811170single nucleotide variantNM_006912.6(RIT1):c.609A>G (p.Val203=)Cardiovascular phenotype [RCV002360097]|Noonan syndrome 8 [RCV003103263]likely benign1155900439155900439Human1name
155796345CV1861799single nucleotide variantNM_006912.6(RIT1):c.381A>G (p.Thr127=)Noonan syndrome 8 [RCV002573602]|not specified [RCV002470081]likely benign1155904359155904359Human1name
10048878CV194951single nucleotide variantNM_006912.6(RIT1):c.375C>T (p.Asp125=)Cardiovascular phenotype [RCV002345624]|Noonan syndrome 8 [RCV001082335]|Noonan syndrome and Noonan-related syndrome [RCV001813423]|not provided [RCV000588435]|not specified [RCV000178921]benign1155904365155904365Human1name
156296751CV1955340single nucleotide variantNM_006912.6(RIT1):c.489A>G (p.Thr163=)Noonan syndrome 8 [RCV002578043]likely benign1155900559155900559Human1name
156175253CV1956534single nucleotide variantNM_006912.6(RIT1):c.531C>A (p.Ala177=)Noonan syndrome 8 [RCV002573938]likely benign1155900517155900517Human1name
156369728CV2031000single nucleotide variantNM_006912.6(RIT1):c.570A>G (p.Val190=)Noonan syndrome 8 [RCV002721431]likely benign1155900478155900478Human1name
156380024CV2060713single nucleotide variantNM_006912.6(RIT1):c.351T>C (p.Leu117=)Noonan syndrome 8 [RCV002815016]likely benign1155904389155904389Human1name
155963962CV2179884single nucleotide variantNM_006912.6(RIT1):c.387G>A (p.Val129=)Noonan syndrome 8 [RCV003033075]likely benign1155904353155904353Human1name
156174285CV2194415single nucleotide variantNM_006912.6(RIT1):c.35G>C (p.Cys12Ser)Cardiovascular phenotype [RCV004079516]uncertain significance1155910727155910727Humanname
11051290CV225852single nucleotide variantNM_006912.6(RIT1):c.67A>C (p.Lys23Gln)Cardiovascular phenotype [RCV003372654]|Hypertelorism [RCV000626786]|Noonan syndrome 8 [RCV000209835]|not provided [RCV000680368]|not specified [RCV000521893]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records1155910695155910695Human7name
329384246CV2432533single nucleotide variantNM_006912.6(RIT1):c.459C>A (p.Ala153=)Cardiovascular phenotype [RCV003176549]likely benign1155900589155900589Humanname
329955349CV2671293single nucleotide variantNM_006912.6(RIT1):c.78G>A (p.Met26Ile)not specified [RCV003236569]uncertain significance1155910684155910684Humanname
401754841CV2717549single nucleotide variantNM_006912.6(RIT1):c.531C>T (p.Ala177=)Cardiovascular phenotype [RCV003296700]likely benign1155900517155900517Humanname
405092933CV2921315single nucleotide variantNM_006912.6(RIT1):c.659G>A (p.Ter220=)Noonan syndrome 8 [RCV003582993]likely benign1155900389155900389Human1name
405080766CV2932994single nucleotide variantNM_006912.6(RIT1):c.651A>G (p.Ser217=)Noonan syndrome 8 [RCV003582017]likely benign1155900397155900397Human1name
405059018CV2947755single nucleotide variantNM_006912.6(RIT1):c.421C>T (p.Leu141=)Cardiovascular phenotype [RCV004661708]|Noonan syndrome 8 [RCV003741413]likely benign1155904319155904319Human1name
405063008CV2965895single nucleotide variantNM_006912.6(RIT1):c.519T>C (p.Asp173=)Noonan syndrome 8 [RCV003741736]likely benign1155900529155900529Human1name
405064872CV2989550single nucleotide variantNM_006912.6(RIT1):c.50G>A (p.Gly17Glu)Noonan syndrome 8 [RCV003741897]uncertain significance1155910712155910712Human1name
405070917CV3026942single nucleotide variantNM_006912.6(RIT1):c.366A>G (p.Arg122=)Noonan syndrome 8 [RCV003742363]likely benign1155904374155904374Human1name
405072954CV3042851single nucleotide variantNM_006912.6(RIT1):c.507C>T (p.Tyr169=)Noonan syndrome 8 [RCV003742503]likely benign1155900541155900541Human1name
405052882CV3064021single nucleotide variantNM_006912.6(RIT1):c.465A>G (p.Glu155=)Noonan syndrome 8 [RCV003740790]|not specified [RCV005240886]likely benign1155900583155900583Human1name
405147895CV3152142single nucleotide variantNM_006912.6(RIT1):c.384T>C (p.Pro128=)Noonan syndrome 8 [RCV003856113]likely benign1155904356155904356Human1name
405220609CV3154435single nucleotide variantNM_006912.6(RIT1):c.29G>C (p.Ser10Thr)Noonan syndrome 8 [RCV003847127]uncertain significance1155910733155910733Human1name
405074584CV3156090single nucleotide variantNM_006912.6(RIT1):c.316C>A (p.Arg106=)Noonan syndrome 8 [RCV003851148]likely benign1155904424155904424Human1name
408374911CV3508561single nucleotide variantNM_006912.6(RIT1):c.69A>T (p.Lys23Asn)RIT1-related disorder [RCV004747613]pathogenic1155910693155910693Humanname , trait , alternate_id
597681314CV3593722single nucleotide variantNM_006912.6(RIT1):c.58C>T (p.Arg20Trp)Cardiovascular phenotype [RCV004983310]uncertain significance1155910704155910704Humanname
597681318CV3593723single nucleotide variantNM_006912.6(RIT1):c.537A>C (p.Val179=)Cardiovascular phenotype [RCV004983311]likely benign1155900511155900511Humanname
597681322CV3593724single nucleotide variantNM_006912.6(RIT1):c.546A>T (p.Ile182=)Cardiovascular phenotype [RCV004983312]likely benign1155900502155900502Humanname
597681325CV3593725single nucleotide variantNM_006912.6(RIT1):c.513T>C (p.Ile171=)Cardiovascular phenotype [RCV004983313]likely benign1155900535155900535Humanname
597681328CV3593726single nucleotide variantNM_006912.6(RIT1):c.522T>A (p.Val174=)Cardiovascular phenotype [RCV004983314]likely benign1155900526155900526Humanname
597681334CV3593727single nucleotide variantNM_006912.6(RIT1):c.630A>G (p.Pro210=)Cardiovascular phenotype [RCV004983315]likely benign1155900418155900418Humanname
597681339CV3593728single nucleotide variantNM_006912.6(RIT1):c.363C>T (p.Val121=)Cardiovascular phenotype [RCV004983316]likely benign1155904377155904377Humanname
597681342CV3593729single nucleotide variantNM_006912.6(RIT1):c.303T>C (p.Ser101=)Cardiovascular phenotype [RCV004983317]likely benign1155904437155904437Humanname
597681348CV3593730single nucleotide variantNM_006912.6(RIT1):c.306C>T (p.Ile102=)Cardiovascular phenotype [RCV004983318]likely benign1155904434155904434Humanname
597832363CV3751348single nucleotide variantNM_006912.6(RIT1):c.59G>A (p.Arg20Gln)Noonan syndrome 8 [RCV005084894]uncertain significance1155910703155910703Human1name
597851609CV3758481single nucleotide variantNM_006912.6(RIT1):c.486G>A (p.Glu162=)Noonan syndrome 8 [RCV005088039]likely benign1155900562155900562Human1name
597854843CV3762590single nucleotide variantNM_006912.6(RIT1):c.372T>G (p.Thr124=)not specified [RCV005088508]likely benign1155904368155904368Humanname
597839878CV3770375single nucleotide variantNM_006912.6(RIT1):c.53T>G (p.Leu18Arg)Noonan syndrome 8 [RCV005113676]uncertain significance1155910709155910709Human1name
597839884CV3770376single nucleotide variantNM_006912.6(RIT1):c.49G>T (p.Gly17Trp)Noonan syndrome 8 [RCV005113677]uncertain significance1155910713155910713Human1name
597853181CV3785172single nucleotide variantNM_006912.6(RIT1):c.498A>G (p.Ala166=)Noonan syndrome 8 [RCV005128015]likely benign1155900550155900550Human1name
597863932CV3797466single nucleotide variantNM_006912.6(RIT1):c.657T>C (p.Thr219=)Noonan syndrome 8 [RCV005138153]likely benign1155900391155900391Human1name
597895522CV3831000single nucleotide variantNM_006912.6(RIT1):c.588A>G (p.Lys196=)Noonan syndrome 8 [RCV005170397]likely benign1155900460155900460Human1name
597845061CV3880291single nucleotide variantNM_006912.6(RIT1):c.43C>T (p.Pro15Ser)not provided [RCV005227179]uncertain significance1155910719155910719Humanname
12913921CV421174single nucleotide variantNM_006912.6(RIT1):c.46G>A (p.Ala16Thr)Cardiovascular phenotype [RCV002329177]|Noonan syndrome 8 [RCV003343868]|not provided [RCV000494418]uncertain significance1155910716155910716Human1name
13526281CV498105single nucleotide variantNM_006912.6(RIT1):c.393T>C (p.Leu131=)Cardiovascular phenotype [RCV002377320]|Noonan syndrome 8 [RCV000655068]|not specified [RCV000603928]likely benign1155904347155904347Human1name
13541472CV498116single nucleotide variantNM_006912.6(RIT1):c.38G>A (p.Ser13Asn)Cardiovascular phenotype [RCV002368057]|Noonan syndrome 8 [RCV001860276]|Noonan syndrome and Noonan-related syndrome [RCV001813519]|RIT1-related disorder [RCV003420058]|not provided [RCV001697491]likely benign|uncertain significance1155910724155910724Human1name , trait , alternate_id
13797536CV552491single nucleotide variantNM_006912.6(RIT1):c.309G>C (p.Thr103=)Cardiovascular phenotype [RCV004985067]|Noonan syndrome 8 [RCV005091991]|RIT1-related disorder [RCV004745549]|not provided [RCV000681299]likely benign1155904431155904431Human1name , trait , alternate_id
13814098CV556612single nucleotide variantNM_006912.6(RIT1):c.69A>C (p.Lys23Asn)Noonan syndrome 1 [RCV000856799]|Noonan syndrome 8 [RCV000704832]|not provided [RCV001092173]pathogenic|likely pathogenic1155910693155910693Human2name
15040385CV682797single nucleotide variantNM_006912.6(RIT1):c.91G>C (p.Gly31Arg)Noonan syndrome 1 [RCV000856810]|Noonan syndrome 8 [RCV003581735]|RIT1-related disorder [RCV003396492]pathogenic|likely pathogenic1155910671155910671Human3name , trait , alternate_id
15107707CV690375single nucleotide variantNM_006912.6(RIT1):c.594G>A (p.Lys198=)Cardiovascular phenotype [RCV002352581]|Noonan syndrome 8 [RCV001484605]|not provided [RCV000871557]likely benign1155900454155900454Human1name
15200664CV761244single nucleotide variantNM_006912.6(RIT1):c.540G>A (p.Arg180=)Cardiovascular phenotype [RCV002346121]|Noonan syndrome 8 [RCV000935444]likely benign1155900508155900508Human1name
39457148CV965822single nucleotide variantNM_006912.6(RIT1):c.639G>A (p.Lys213=)Noonan syndrome 8 [RCV002570592]|not specified [RCV001255556]likely benign1155900409155900409Human1name
126769967CV1002168single nucleotide variantNM_006912.6(RIT1):c.134G>T (p.Arg45Leu)Noonan syndrome 8 [RCV001322286]uncertain significance1155910479155910479Human1name
126920258CV1039473single nucleotide variantNM_006912.6(RIT1):c.116T>A (p.Met39Lys)Noonan syndrome 8 [RCV001373704]uncertain significance1155910497155910497Human1name
126919530CV1039474single nucleotide variantNM_006912.6(RIT1):c.113C>G (p.Thr38Ser)Noonan syndrome 8 [RCV001362346]|not specified [RCV001732138]likely pathogenic|uncertain significance1155910500155910500Human1name
127244089CV1053724single nucleotide variantNM_006912.6(RIT1):c.280G>T (p.Glu94Ter)Non-immune hydrops fetalis [RCV001375991]pathogenic1155904460155904460Human2name
150503002CV1212377insertionNM_006912.6(RIT1):c.-43-166_-43-165insTnot provided [RCV001595251]benign1155910969155910970Humanname
8649290CV125844single nucleotide variantNM_006912.6(RIT1):c.270G>A (p.Met90Ile)Noonan syndrome 8 [RCV000106331]|Noonan syndrome [RCV000220792]|Noonan syndrome and Noonan-related syndrome [RCV001813378]|RASopathy [RCV001844039]|not provided [RCV000301748]pathogenic|likely pathogenic|not provided1155904470155904470Human3name
150520451CV1289617single nucleotide variantNM_006912.6(RIT1):c.116T>G (p.Met39Arg)Noonan syndrome 8 [RCV001730034]likely pathogenic|conflicting interpretations of pathogenicity1155910497155910497Human1name
150550803CV1305177single nucleotide variantNM_006912.6(RIT1):c.208A>T (p.Asn70Tyr)Cardiovascular phenotype [RCV004988736]|Noonan syndrome 8 [RCV001868650]|not provided [RCV001765957]uncertain significance1155904760155904760Human1name
151351872CV1322081single nucleotide variantNM_006912.6(RIT1):c.272G>A (p.Arg91Lys)not specified [RCV001806703]uncertain significance1155904468155904468Humanname
151348499CV1324061single nucleotide variantNM_006912.6(RIT1):c.116T>C (p.Met39Thr)Cardiovascular phenotype [RCV004040927]|Noonan syndrome 8 [RCV001807974]likely pathogenic|uncertain significance1155910497155910497Human1name
151352184CV1325135single nucleotide variantNM_006912.6(RIT1):c.292A>G (p.Ile98Val)Noonan syndrome and Noonan-related syndrome [RCV001813691]uncertain significance1155904448155904448Humanname
151352185CV1325136single nucleotide variantNM_006912.6(RIT1):c.145G>C (p.Asp49His)Noonan syndrome 8 [RCV001885298]|Noonan syndrome and Noonan-related syndrome [RCV001813692]uncertain significance1155910468155910468Human1name
151765316CV1495804deletionNM_006912.6(RIT1):c.645del (p.Asp216fs)Noonan syndrome 8 [RCV001863546]uncertain significance1155900403155900403Human1name
155663719CV1785772single nucleotide variantNM_006912.6(RIT1):c.113C>T (p.Thr38Ile)Cardiovascular phenotype [RCV002451793]uncertain significance1155910500155910500Humanname
9833435CV178911single nucleotide variantNM_006912.6(RIT1):c.246T>G (p.Phe82Leu)Congenital heart disease [RCV003483526]|Non-immune hydrops fetalis [RCV001375970]|Noonan syndrome 8 [RCV000054406]|Noonan syndrome [RCV000207343]|Noonan syndrome and Noonan-related syndrome [RCV001813414]|RASopathy [RCV001255602]|RIT1-related disorder [RCV003398pathogenic|likely pathogenic1155904494155904494Human6name , trait , alternate_id
155686893CV1796738single nucleotide variantNM_006912.6(RIT1):c.115A>G (p.Met39Val)Cardiovascular phenotype [RCV002373186]uncertain significance1155910498155910498Humanname
11039604CV181505single nucleotide variantNM_006912.6(RIT1):c.265T>C (p.Tyr89His)Noonan syndrome 8 [RCV000707713]|Noonan syndrome [RCV000207342]|Noonan syndrome and Noonan-related syndrome [RCV001813421]|RIT1-related disorder [RCV003965185]|not provided [RCV000486847]pathogenic1155904475155904475Human2name , trait , alternate_id
11039610CV181506single nucleotide variantNM_006912.6(RIT1):c.251C>T (p.Ala84Val)Cardiovascular phenotype [RCV003162683]|Noonan syndrome 8 [RCV001384932]|Noonan syndrome [RCV000207351]|RASopathy [RCV005406858]|not provided [RCV000492853]pathogenic|likely pathogenic1155904489155904489Human3name
11039606CV181507single nucleotide variantNM_006912.6(RIT1):c.247A>C (p.Thr83Pro)Inborn genetic diseases [RCV000622399]|Noonan syndrome 1 [RCV000856766]|Noonan syndrome 8 [RCV001384933]|Noonan syndrome [RCV000207345]|RASopathy [RCV001175490]|not provided [RCV000414438]pathogenic1155904493155904493Human5name
11039611CV181508single nucleotide variantNM_006912.6(RIT1):c.244T>G (p.Phe82Val)Cardiovascular phenotype [RCV002453562]|Noonan syndrome 8 [RCV000170492]|Noonan syndrome [RCV000207352]|Noonan syndrome and Noonan-related syndrome [RCV001813420]|RASopathy [RCV001778757]|not provided [RCV000263369]pathogenic1155904496155904496Human3name
11039607CV181509single nucleotide variantNM_006912.6(RIT1):c.244T>C (p.Phe82Leu)Noonan syndrome 8 [RCV001850287]|Noonan syndrome [RCV000207346]|Noonan syndrome and Noonan-related syndrome [RCV001813419]|RASopathy [RCV003317110]|RIT1-related disorder [RCV003927532]|not provided [RCV000254958]pathogenic1155904496155904496Human3name , trait , alternate_id
11039601CV181510single nucleotide variantNM_006912.6(RIT1):c.244T>A (p.Phe82Ile)Noonan syndrome 8 [RCV000226825]|Noonan syndrome [RCV000207338]|not provided [RCV001731491]pathogenic|uncertain significance1155904496155904496Human2name
11039609CV181511single nucleotide variantNM_006912.6(RIT1):c.242A>G (p.Glu81Gly)Inborn genetic diseases [RCV001265779]|Noonan syndrome 8 [RCV000054405]|Noonan syndrome [RCV000207350]|Noonan syndrome and Noonan-related syndrome [RCV001813418]|RASopathy [RCV001174556]|RIT1-related disorder [RCV004745234]|not provided [RCV000255048]|not specifpathogenic|likely pathogenic1155904498155904498Human4name , trait , alternate_id
11039608CV181512single nucleotide variantNM_006912.6(RIT1):c.241G>C (p.Glu81Gln)Noonan syndrome [RCV000207347]pathogenic1155904499155904499Human1name
11039602CV181513single nucleotide variantNM_006912.6(RIT1):c.229G>A (p.Ala77Thr)Noonan syndrome 1 [RCV000856755]|Noonan syndrome 8 [RCV000578238]|Noonan syndrome [RCV000207340]|RASopathy [RCV003114309]|RIT1-related disorder [RCV004745233]|not provided [RCV000282691]pathogenic|likely pathogenic1155904739155904739Human4name , trait , alternate_id
11039605CV181514single nucleotide variantNM_006912.6(RIT1):c.151G>T (p.Asp51Tyr)Noonan syndrome 8 [RCV001211033]|Noonan syndrome [RCV000207344]likely pathogenic|uncertain significance1155910462155910462Human2name
11039603CV181515single nucleotide variantNM_006912.6(RIT1):c.104G>C (p.Ser35Thr)Noonan syndrome 8 [RCV000475746]|Noonan syndrome [RCV000207341]|RASopathy [RCV003235080]|not provided [RCV000255076]pathogenic|likely pathogenic1155910658155910658Human3name
155724734CV1828364single nucleotide variantNM_006912.6(RIT1):c.173A>G (p.Tyr58Cys)Cardiovascular phenotype [RCV002399300]uncertain significance1155904795155904795Humanname
155675655CV1854300single nucleotide variantNM_006912.6(RIT1):c.289A>C (p.Ile97Leu)Cardiovascular phenotype [RCV002438007]uncertain significance1155904451155904451Humanname
10044318CV188134single nucleotide variantNM_006912.6(RIT1):c.270G>C (p.Met90Ile)Cardiovascular phenotype [RCV004020021]|Noonan syndrome 8 [RCV000170493]|Noonan syndrome and Noonan-related syndrome [RCV001813422]|RASopathy [RCV005237632]|RIT1-related disorder [RCV003416059]|not provided [RCV000355969]pathogenic|likely pathogenic1155904470155904470Human2name , trait , alternate_id
156404310CV1898196single nucleotide variantNM_006912.6(RIT1):c.133C>G (p.Arg45Gly)Noonan syndrome 8 [RCV002585376]uncertain significance1155910480155910480Human1name
156056392CV1928769single nucleotide variantNM_006912.6(RIT1):c.256C>T (p.Arg86Trp)Noonan syndrome 8 [RCV002620785]uncertain significance1155904484155904484Human1name
156168975CV2019909single nucleotide variantNM_006912.6(RIT1):c.146A>T (p.Asp49Val)Noonan syndrome 8 [RCV002710425]uncertain significance1155910467155910467Human1name
11092756CV228269single nucleotide variantNM_006912.6(RIT1):c.229G>C (p.Ala77Pro)Noonan syndrome 8 [RCV000467706]|Noonan syndrome [RCV000218943]|not provided [RCV002517525]pathogenic|likely pathogenic1155904739155904739Human2name
243050589CV2403885single nucleotide variantNM_006912.6(RIT1):c.292A>T (p.Ile98Phe)Noonan syndrome 8 [RCV003128556]uncertain significance1155904448155904448Human1name
243062321CV2404721single nucleotide variantNM_006912.6(RIT1):c.111G>C (p.Met37Ile)Noonan syndrome 8 [RCV003140282]pathogenic1155910502155910502Humanname
329362747CV2432534single nucleotide variantNM_006912.6(RIT1):c.259G>A (p.Asp87Asn)Cardiovascular phenotype [RCV003167957]likely pathogenic|uncertain significance1155904481155904481Humanname
11559950CV259632single nucleotide variantNM_006912.6(RIT1):c.270G>T (p.Met90Ile)Inborn genetic diseases [RCV001267162]|Noonan syndrome 8 [RCV000722172]|RASopathy [RCV005238808]|not provided [RCV000255338]pathogenic1155904470155904470Human3name
11637037CV263956single nucleotide variantNM_006912.6(RIT1):c.259G>C (p.Asp87His)Noonan syndrome 8 [RCV001855060]|Noonan syndrome and Noonan-related syndrome [RCV001813441]|not provided [RCV000278934]pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records1155904481155904481Human1name
405076642CV2905539single nucleotide variantNM_006912.6(RIT1):c.139C>A (p.Pro47Thr)Noonan syndrome 8 [RCV003581471]uncertain significance1155910474155910474Human1name
405062333CV2968186single nucleotide variantNM_006912.6(RIT1):c.153T>A (p.Asp51Glu)Noonan syndrome 8 [RCV003741680]|not specified [RCV005240855]uncertain significance1155910460155910460Human1name
405062358CV2968304single nucleotide variantNM_006912.6(RIT1):c.206C>A (p.Ala69Asp)Noonan syndrome 8 [RCV003741682]uncertain significance1155904762155904762Human1name
405066131CV2992253single nucleotide variantNM_006912.6(RIT1):c.253A>G (p.Met85Val)Noonan syndrome 8 [RCV003741995]uncertain significance1155904487155904487Human1name
405070216CV3029268single nucleotide variantNM_006912.6(RIT1):c.125T>C (p.Ile42Thr)Cardiovascular phenotype [RCV004371872]|Noonan syndrome 8 [RCV003742312]uncertain significance1155910488155910488Human1name
405051908CV3055397deletionNM_006912.6(RIT1):c.638del (p.Lys213fs)Noonan syndrome 8 [RCV003740686]uncertain significance1155900410155900410Human1name
405054118CV3066126single nucleotide variantNM_006912.6(RIT1):c.128G>C (p.Ser43Thr)Noonan syndrome 8 [RCV003740900]uncertain significance1155910485155910485Human1name
404990004CV3131957single nucleotide variantNM_006912.6(RIT1):c.274G>T (p.Ala92Ser)Noonan syndrome 8 [RCV003827086]uncertain significance1155904466155904466Human1name
405230587CV3153904deletionNM_006912.6(RIT1):c.634del (p.Arg212fs)Cardiovascular phenotype [RCV005273967]|Noonan syndrome 8 [RCV003848772]uncertain significance1155900414155900414Human1name
405183595CV3159581single nucleotide variantNM_006912.6(RIT1):c.211C>G (p.Leu71Val)Noonan syndrome 8 [RCV003858832]|not provided [RCV004780678]uncertain significance1155904757155904757Human1name
405680538CV3390457single nucleotide variantNM_006912.6(RIT1):c.117G>A (p.Met39Ile)Cardiovascular phenotype [RCV004517221]uncertain significance1155910496155910496Humanname
405680543CV3390458single nucleotide variantNM_006912.6(RIT1):c.151G>A (p.Asp51Asn)Cardiovascular phenotype [RCV004517222]uncertain significance1155910462155910462Humanname
405680545CV3390459single nucleotide variantNM_006912.6(RIT1):c.155C>T (p.Pro52Leu)Cardiovascular phenotype [RCV004517223]uncertain significance1155910458155910458Humanname
407425485CV3411275single nucleotide variantNM_006912.6(RIT1):c.172T>G (p.Tyr58Asp)not provided [RCV004588966]uncertain significance1155904796155904796Humanname
407475688CV3483356single nucleotide variantNM_006912.6(RIT1):c.191T>C (p.Ile64Thr)Cardiovascular phenotype [RCV004663292]uncertain significance1155904777155904777Humanname
408386869CV3518584single nucleotide variantNM_006912.6(RIT1):c.179T>C (p.Ile60Thr)not provided [RCV004760902]uncertain significance1155904789155904789Humanname
408381803CV3524007single nucleotide variantNM_006912.6(RIT1):c.176A>C (p.Lys59Thr)not provided [RCV004766405]uncertain significance1155904792155904792Humanname
596928201CV3532845single nucleotide variantNM_006912.6(RIT1):c.220T>A (p.Leu74Met)not provided [RCV004778943]uncertain significance1155904748155904748Humanname
596928762CV3541649single nucleotide variantNM_006912.6(RIT1):c.269T>C (p.Met90Thr)Noonan syndrome 8 [RCV004797522]likely pathogenic1155904471155904471Human1name
11664849CV354275single nucleotide variantNM_006912.6(RIT1):c.246T>A (p.Phe82Leu)Cardiovascular phenotype [RCV003372696]|Noonan syndrome 1 [RCV000856765]|Noonan syndrome 8 [RCV000408903]|not provided [RCV000427451]pathogenic1155904494155904494Human5name
597649563CV3551839single nucleotide variantNM_006912.6(RIT1):c.130C>T (p.His44Tyr)not provided [RCV004820552]uncertain significance1155910483155910483Humanname
12742417CV359228single nucleotide variantNM_006912.6(RIT1):c.245T>G (p.Phe82Cys)Noonan syndrome 8 [RCV001782888]|RASopathy [RCV004701458]|RIT1-related disorder [RCV003418096]|not provided [RCV000413610]pathogenic1155904495155904495Human2name , trait , alternate_id
12741252CV359281single nucleotide variantNM_006912.6(RIT1):c.118C>T (p.Gln40Ter)not specified [RCV000414539]uncertain significance1155910495155910495Humanname
597940401CV3757232single nucleotide variantNM_006912.6(RIT1):c.142G>A (p.Glu48Lys)Noonan syndrome 8 [RCV005077417]uncertain significance1155910471155910471Human1name
597839873CV3770373single nucleotide variantNM_006912.6(RIT1):c.260A>C (p.Asp87Ala)Noonan syndrome 8 [RCV005113674]likely pathogenic1155904480155904480Human1name
597873093CV3803387single nucleotide variantNM_006912.6(RIT1):c.109A>G (p.Met37Val)Noonan syndrome 8 [RCV005147984]uncertain significance1155910504155910504Human1name
597908591CV3845772single nucleotide variantNM_006912.6(RIT1):c.134G>A (p.Arg45Gln)Noonan syndrome 8 [RCV005183567]uncertain significance1155910479155910479Human1name
598229812CV3899250single nucleotide variantNM_006912.6(RIT1):c.209A>G (p.Asn70Ser)Cardiovascular phenotype [RCV005274242]uncertain significance1155904759155904759Humanname
13794386CV551682single nucleotide variantNM_006912.6(RIT1):c.233G>A (p.Gly78Glu)Noonan syndrome 8 [RCV000995856]|Noonan syndrome [RCV000678904]|RASopathy [RCV004760697]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance1155904735155904735Human3name
13797210CV552492single nucleotide variantNM_006912.6(RIT1):c.268A>G (p.Met90Val)Noonan syndrome 8 [RCV000762859]|Noonan syndrome [RCV001261143]|Noonan syndrome and Noonan-related syndrome [RCV001813544]|RASopathy [RCV001192383]|not provided [RCV000681030]pathogenic|likely pathogenic1155904472155904472Human3name
13797082CV552494single nucleotide variantNM_006912.6(RIT1):c.229G>T (p.Ala77Ser)Noonan syndrome 1 [RCV003453398]|Noonan syndrome 8 [RCV001861885]|not provided [RCV000680952]pathogenic1155904739155904739Human2name
13806506CV556953single nucleotide variantNM_006912.6(RIT1):c.112A>G (p.Thr38Ala)Noonan syndrome 1 [RCV003453484]|Noonan syndrome 8 [RCV000700611]|not provided [RCV002291694]conflicting interpretations of pathogenicity|uncertain significance1155910501155910501Human2name
14735486CV626899single nucleotide variantNM_006912.6(RIT1):c.153T>G (p.Asp51Glu)Noonan syndrome 8 [RCV000803177]|not provided [RCV001655600]uncertain significance1155910460155910460Human1name
15040358CV682796single nucleotide variantNM_006912.6(RIT1):c.245T>C (p.Phe82Ser)Noonan syndrome 1 [RCV000856764]pathogenic1155904495155904495Human1name
8572564CV75093single nucleotide variantNM_006912.6(RIT1):c.170C>G (p.Ala57Gly)Cardiovascular phenotype [RCV002399414]|Noonan syndrome 1 [RCV000856747]|Noonan syndrome 8 [RCV000054404]|Noonan syndrome [RCV000207349]|Noonan syndrome and Noonan-related syndrome [RCV001813373]|RASopathy [RCV001731346]|RIT1-related disorder [RCV003390753]|not pathogenic|uncertain significance1155904798155904798Human4name , trait , alternate_id
8572567CV75096single nucleotide variantNM_006912.6(RIT1):c.284G>C (p.Gly95Ala)Cardiovascular phenotype [RCV002433549]|Noonan syndrome 1 [RCV003450918]|Noonan syndrome 8 [RCV000054407]|Noonan syndrome [RCV000207348]|Noonan syndrome and Noonan-related syndrome [RCV001813374]|RASopathy [RCV001192384]|RIT1-related disorder [RCV003915017]|not pathogenic1155904456155904456Human4name , trait , alternate_id
26915934CV822785deletionNM_006912.6(RIT1):c.649del (p.Ser217fs)Noonan syndrome 8 [RCV001041643]uncertain significance1155900399155900399Human1name
26914066CV822786single nucleotide variantNM_006912.6(RIT1):c.230C>G (p.Ala77Gly)Cardiovascular phenotype [RCV003372960]|Noonan syndrome 8 [RCV001054701]|not provided [RCV001683730]pathogenic|likely pathogenic1155904738155904738Human1name
26887052CV822787single nucleotide variantNM_006912.6(RIT1):c.140C>T (p.Pro47Leu)Cardiovascular phenotype [RCV002393220]|Noonan syndrome 8 [RCV001044625]|not specified [RCV001175489]uncertain significance1155910473155910473Human1name
38598385CV964130single nucleotide variantNM_006912.6(RIT1):c.268A>C (p.Met90Leu)Noonan syndrome 8 [RCV001253561]likely pathogenic1155904472155904472Human1name
40813898CV969626single nucleotide variantNM_006912.6(RIT1):c.235C>G (p.Gln79Glu)Noonan syndrome 8 [RCV001880009]|Noonan syndrome [RCV001261142]|not provided [RCV003313201]likely pathogenic|uncertain significance1155904733155904733Human2name
40813897CV969627single nucleotide variantNM_006912.6(RIT1):c.152A>T (p.Asp51Val)Noonan syndrome [RCV001261141]uncertain significance1155910461155910461Human1name
40813896CV969628single nucleotide variantNM_006912.6(RIT1):c.131A>T (p.His44Leu)Noonan syndrome [RCV001261140]likely benign1155910482155910482Human1name
40813895CV969629single nucleotide variantNM_006912.6(RIT1):c.113C>A (p.Thr38Asn)Noonan syndrome 8 [RCV002541575]|Noonan syndrome [RCV001261139]likely pathogenic|uncertain significance1155910500155910500Human2name
126729040CV986935single nucleotide variantNM_006912.6(RIT1):c.257G>A (p.Arg86Gln)Noonan syndrome 8 [RCV001303502]uncertain significance1155904483155904483Human1name
151233456CV1317827single nucleotide variantNM_006912.6(RIT1):c.326A>T (p.His109Leu)Noonan syndrome 8 [RCV001885212]|not provided [RCV001787594]uncertain significance1155904414155904414Human1name
151352180CV1325132single nucleotide variantNM_006912.6(RIT1):c.635G>A (p.Arg212Gln)Cardiovascular phenotype [RCV002361067]|Noonan syndrome 8 [RCV001869619]|Noonan syndrome and Noonan-related syndrome [RCV001813688]uncertain significance1155900413155900413Human1name
151352181CV1325133single nucleotide variantNM_006912.6(RIT1):c.488C>T (p.Thr163Ile)Noonan syndrome 8 [RCV003581807]|Noonan syndrome and Noonan-related syndrome [RCV001813689]|RIT1-related disorder [RCV003892859]uncertain significance1155900560155900560Human1name , trait , alternate_id
151352183CV1325134single nucleotide variantNM_006912.6(RIT1):c.341T>A (p.Phe114Tyr)Cardiovascular phenotype [RCV002458622]|Noonan syndrome 8 [RCV001869620]|Noonan syndrome and Noonan-related syndrome [RCV001813690]uncertain significance1155904399155904399Human1name
151793042CV1341559single nucleotide variantNM_006912.6(RIT1):c.646G>A (p.Asp216Asn)Cardiovascular phenotype [RCV002361095]|Noonan syndrome 8 [RCV001866424]likely benign|uncertain significance1155900402155900402Human1name
151768106CV1345392single nucleotide variantNM_006912.6(RIT1):c.548G>A (p.Arg183His)Noonan syndrome 8 [RCV001863813]uncertain significance1155900500155900500Human1name
151746121CV1433074single nucleotide variantNM_006912.6(RIT1):c.326A>G (p.His109Arg)Cardiovascular phenotype [RCV002324413]|Noonan syndrome 8 [RCV001985744]|not provided [RCV004591666]uncertain significance1155904414155904414Human1name
151875167CV1459841single nucleotide variantNM_006912.6(RIT1):c.500A>G (p.Tyr167Cys)Cardiovascular phenotype [RCV003303670]|Noonan syndrome 8 [RCV002036166]uncertain significance1155900548155900548Human1name
153305640CV1688695single nucleotide variantNM_006912.6(RIT1):c.358C>G (p.Arg120Gly)not provided [RCV004763350]|not specified [RCV002266433]uncertain significance1155904382155904382Humanname
155704831CV1771305single nucleotide variantNM_006912.6(RIT1):c.559A>C (p.Lys187Gln)Cardiovascular phenotype [RCV003164501]|Noonan syndrome 8 [RCV002295795]uncertain significance1155900489155900489Human1name
155749877CV1779243single nucleotide variantNM_006912.6(RIT1):c.587A>C (p.Lys196Thr)Noonan syndrome 8 [RCV002305115]uncertain significance1155900461155900461Human1name
155675174CV1786456single nucleotide variantNM_006912.6(RIT1):c.356A>G (p.Tyr119Cys)Cardiovascular phenotype [RCV002454979]uncertain significance1155904384155904384Humanname
155665785CV1786878single nucleotide variantNM_006912.6(RIT1):c.373G>A (p.Asp125Asn)Cardiovascular phenotype [RCV002349226]uncertain significance1155904367155904367Humanname
9833434CV178908single nucleotide variantNM_006912.6(RIT1):c.532C>G (p.Leu178Val)Cardiovascular phenotype [RCV002346572]|Noonan syndrome 8 [RCV003096341]|not specified [RCV002282885]uncertain significance1155900516155900516Human1name
9833436CV178909single nucleotide variantNM_006912.5(RIT1):c.493G>T (p.Ala165Ser)Rasopathy [RCV000159102]uncertain significance1155900555155900555Humanname
155676366CV1796123single nucleotide variantNM_006912.6(RIT1):c.359G>A (p.Arg120Gln)Cardiovascular phenotype [RCV002455166]|Noonan syndrome 8 [RCV003099606]uncertain significance1155904381155904381Human1name
155730394CV1796126single nucleotide variantNM_006912.6(RIT1):c.359G>T (p.Arg120Leu)Cardiovascular phenotype [RCV002339860]uncertain significance1155904381155904381Humanname
155697118CV1800887single nucleotide variantNM_006912.6(RIT1):c.602A>G (p.Asn201Ser)Cardiovascular phenotype [RCV002358145]|Noonan syndrome 8 [RCV003103257]likely benign|uncertain significance1155900446155900446Human1name
155745410CV1802811single nucleotide variantNM_006912.6(RIT1):c.535G>A (p.Val179Ile)Cardiovascular phenotype [RCV002347020]|Noonan syndrome 8 [RCV003102724]uncertain significance1155900513155900513Human1name
155745716CV1802961single nucleotide variantNM_006912.6(RIT1):c.538C>T (p.Arg180Trp)Cardiovascular phenotype [RCV002347170]|Noonan syndrome 8 [RCV003581844]uncertain significance1155900510155900510Human1name
155680700CV1807272single nucleotide variantNM_006912.6(RIT1):c.588A>C (p.Lys196Asn)Cardiovascular phenotype [RCV002353561]|Noonan syndrome 8 [RCV003581845]likely benign|uncertain significance1155900460155900460Human1name
155681144CV1807625single nucleotide variantNM_006912.6(RIT1):c.615G>T (p.Lys205Asn)Cardiovascular phenotype [RCV002353651]uncertain significance1155900433155900433Humanname
155795567CV1861378single nucleotide variantNM_006912.6(RIT1):c.511A>G (p.Ile171Val)not provided [RCV002469660]uncertain significance1155900537155900537Humanname
155975001CV1885932single nucleotide variantNM_006912.6(RIT1):c.503G>A (p.Arg168His)Noonan syndrome 8 [RCV003075369]uncertain significance1155900545155900545Human1name
155992637CV1894478single nucleotide variantNM_006912.6(RIT1):c.338A>T (p.Glu113Val)Noonan syndrome 8 [RCV003076185]uncertain significance1155904402155904402Human1name
156372292CV1901538single nucleotide variantNM_006912.6(RIT1):c.566C>T (p.Ala189Val)Noonan syndrome 8 [RCV002582517]uncertain significance1155900482155900482Human1name
156367903CV1902962single nucleotide variantNM_006912.6(RIT1):c.550A>G (p.Arg184Gly)Noonan syndrome 8 [RCV003092192]|RIT1-related disorder [RCV003906500]uncertain significance1155900498155900498Human1name , trait , alternate_id
156216233CV1910625single nucleotide variantNM_006912.6(RIT1):c.650C>G (p.Ser217Ter)Noonan syndrome 8 [RCV002596273]|not provided [RCV004775302]uncertain significance1155900398155900398Human1name
156376301CV1930511single nucleotide variantNM_006912.6(RIT1):c.598A>C (p.Lys200Gln)Noonan syndrome 8 [RCV002633859]uncertain significance1155900450155900450Human1name
156169586CV1968237single nucleotide variantNM_006912.6(RIT1):c.340T>C (p.Phe114Leu)Noonan syndrome 8 [RCV002594730]uncertain significance1155904400155904400Human1name
156121860CV2015980single nucleotide variantNM_006912.6(RIT1):c.607G>A (p.Val203Ile)Noonan syndrome 8 [RCV002696067]uncertain significance1155900441155900441Human1name
155969200CV2030669single nucleotide variantNM_006912.6(RIT1):c.379A>G (p.Thr127Ala)Noonan syndrome 8 [RCV002731542]uncertain significance1155904361155904361Human1name
155954138CV2033288single nucleotide variantNM_006912.6(RIT1):c.618G>C (p.Arg206Ser)Cardiovascular phenotype [RCV004983108]|Noonan syndrome 8 [RCV002730837]uncertain significance1155900430155900430Human1name
156317198CV2071110single nucleotide variantNM_006912.6(RIT1):c.401A>G (p.Asn134Ser)Noonan syndrome 8 [RCV002834474]uncertain significance1155904339155904339Human1name
156337283CV2110226single nucleotide variantNM_006912.6(RIT1):c.413T>G (p.Leu138Arg)Noonan syndrome 8 [RCV002938705]uncertain significance1155904327155904327Human1name
156205078CV2110232single nucleotide variantNM_006912.6(RIT1):c.310G>A (p.Asp104Asn)Noonan syndrome 8 [RCV002957522]uncertain significance1155904430155904430Human1name
156140234CV2116674single nucleotide variantNM_006912.6(RIT1):c.617G>C (p.Arg206Thr)Noonan syndrome 8 [RCV002914880]uncertain significance1155900431155900431Human1name
156204275CV2134889single nucleotide variantNM_006912.6(RIT1):c.374A>G (p.Asp125Gly)Cardiovascular phenotype [RCV004065145]|Noonan syndrome 8 [RCV002985338]uncertain significance1155904366155904366Human1name
156317694CV2137830single nucleotide variantNM_006912.6(RIT1):c.335G>A (p.Arg112His)Cardiovascular phenotype [RCV004065065]|Noonan syndrome 8 [RCV002963000]uncertain significance1155904405155904405Human1name
156033669CV2182339single nucleotide variantNM_006912.6(RIT1):c.572T>A (p.Leu191Gln)Noonan syndrome 8 [RCV003036290]uncertain significance1155900476155900476Human1name
11089611CV228266single nucleotide variantNM_006912.6(RIT1):c.604A>T (p.Ser202Cys)not specified [RCV000215033]uncertain significance1155900444155900444Humanname
156263209CV2314954single nucleotide variantNM_006912.6(RIT1):c.391C>A (p.Leu131Ile)Cardiovascular phenotype [RCV004164884]uncertain significance1155904349155904349Humanname
329384148CV2432535single nucleotide variantNM_006912.6(RIT1):c.385G>A (p.Val129Met)Cardiovascular phenotype [RCV003176550]uncertain significance1155904355155904355Humanname
11642355CV263947single nucleotide variantNM_006912.6(RIT1):c.634C>T (p.Arg212Trp)Cardiovascular phenotype [RCV002365291]|Noonan syndrome 8 [RCV001342293]|Noonan syndrome and Noonan-related syndrome [RCV001813440]|not provided [RCV000373670]|not specified [RCV001174993]likely benign|conflicting interpretations of pathogenicity|uncertain significance1155900414155900414Human1name
11581142CV263951single nucleotide variantNM_006912.6(RIT1):c.365G>T (p.Arg122Leu)Megalencephaly-capillary malformation-polymicrogyria syndrome [RCV002051722]|Noonan syndrome 8 [RCV001037285]|Noonan syndrome and Noonan-related syndrome [RCV001813444]|not provided [RCV000357501]pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records1155904375155904375Human2name
11636646CV263953single nucleotide variantNM_006912.6(RIT1):c.304A>G (p.Ile102Val)Noonan syndrome 8 [RCV003581647]|not provided [RCV000272397]uncertain significance1155904436155904436Human1name
11639701CV263954single nucleotide variantNM_006912.6(RIT1):c.575C>T (p.Ala192Val)Cardiovascular phenotype [RCV004021070]|Noonan syndrome 8 [RCV001270055]|not provided [RCV000325585]uncertain significance1155900473155900473Human1name
401796237CV2740443single nucleotide variantNM_006912.6(RIT1):c.308C>T (p.Thr103Met)Noonan syndrome 8 [RCV005102894]|not provided [RCV003321113]uncertain significance1155904432155904432Human1name
401797146CV2741977single nucleotide variantNM_006912.6(RIT1):c.437A>G (p.Lys146Arg)not specified [RCV003324153]uncertain significance1155900611155900611Humanname
401936312CV2803138single nucleotide variantNM_006912.6(RIT1):c.375C>A (p.Asp125Glu)RIT1-related disorder [RCV003414316]uncertain significance1155904365155904365Humanname , trait , alternate_id
404992882CV2850906single nucleotide variantNM_006912.6(RIT1):c.365G>A (p.Arg122Gln)Noonan syndrome 8 [RCV003491404]uncertain significance1155904375155904375Human1name
405075950CV2901652single nucleotide variantNM_006912.6(RIT1):c.578T>G (p.Met193Arg)Noonan syndrome 8 [RCV003581449]uncertain significance1155900470155900470Human1name
405081493CV2930441single nucleotide variantNM_006912.6(RIT1):c.470G>A (p.Ser157Asn)Noonan syndrome 8 [RCV003582084]uncertain significance1155900578155900578Human1name
405064065CV2981734single nucleotide variantNM_006912.6(RIT1):c.617G>A (p.Arg206Lys)Noonan syndrome 8 [RCV003741830]uncertain significance1155900431155900431Human1name
405067152CV2997283single nucleotide variantNM_006912.6(RIT1):c.561G>C (p.Lys187Asn)Noonan syndrome 8 [RCV003742070]uncertain significance1155900487155900487Human1name
405069100CV3007419single nucleotide variantNM_006912.6(RIT1):c.446G>C (p.Gly149Ala)Noonan syndrome 8 [RCV003742236]uncertain significance1155900602155900602Human1name
405074914CV3054010single nucleotide variantNM_006912.6(RIT1):c.565G>A (p.Ala189Thr)Noonan syndrome 8 [RCV003742549]uncertain significance1155900483155900483Human1name
405056280CV3072011single nucleotide variantNM_006912.6(RIT1):c.547C>T (p.Arg183Cys)Noonan syndrome 8 [RCV003741076]uncertain significance1155900501155900501Human1name
405047936CV3137861single nucleotide variantNM_006912.6(RIT1):c.417A>T (p.Lys139Asn)Noonan syndrome 8 [RCV003831899]uncertain significance1155904323155904323Human1name
405224750CV3142241single nucleotide variantNM_006912.6(RIT1):c.505T>A (p.Tyr169Asn)Noonan syndrome 8 [RCV003847780]uncertain significance1155900543155900543Human1name
405203561CV3143990single nucleotide variantNM_006912.6(RIT1):c.433A>G (p.Thr145Ala)Cardiovascular phenotype [RCV004987103]|Noonan syndrome 8 [RCV003844780]uncertain significance1155900615155900615Human1name
405174422CV3150549single nucleotide variantNM_006912.6(RIT1):c.509A>G (p.Tyr170Cys)Noonan syndrome 8 [RCV003841823]uncertain significance1155900539155900539Human1name
405244746CV3161591single nucleotide variantNM_006912.6(RIT1):c.578T>C (p.Met193Thr)Noonan syndrome 8 [RCV003868304]conflicting interpretations of pathogenicity|uncertain significance1155900470155900470Human1name
405705591CV3224816single nucleotide variantNM_006912.6(RIT1):c.520G>A (p.Val174Ile)Noonan syndrome 8 [RCV003990196]uncertain significance1155900528155900528Human1name
405752922CV3316176single nucleotide variantNM_006912.6(RIT1):c.572T>C (p.Leu191Pro)Cardiovascular phenotype [RCV004454061]uncertain significance1155900476155900476Humanname
407429170CV3413557single nucleotide variantNM_006912.6(RIT1):c.551G>C (p.Arg184Thr)Noonan syndrome 8 [RCV004594966]uncertain significance1155900497155900497Human1name
407574016CV3498365single nucleotide variantNM_006912.6(RIT1):c.371C>T (p.Thr124Ile)not specified [RCV004702840]uncertain significance1155904369155904369Humanname
408386543CV3522573single nucleotide variantNM_006912.6(RIT1):c.317G>A (p.Arg106Gln)not provided [RCV004767933]uncertain significance1155904423155904423Humanname
596931210CV3531543single nucleotide variantNM_006912.6(RIT1):c.602A>T (p.Asn201Ile)not provided [RCV004781105]uncertain significance1155900446155900446Humanname
12740905CV359264single nucleotide variantNM_006912.6(RIT1):c.539G>A (p.Arg180Gln)Cardiovascular phenotype [RCV004022165]|Noonan syndrome 8 [RCV001850986]|not specified [RCV000413457]uncertain significance1155900509155900509Human1name
597681352CV3593731single nucleotide variantNM_006912.6(RIT1):c.541G>C (p.Glu181Gln)Cardiovascular phenotype [RCV004983319]uncertain significance1155900507155900507Humanname
12837447CV364547single nucleotide variantNM_006912.6(RIT1):c.547C>G (p.Arg183Gly)not provided [RCV000425175]uncertain significance1155900501155900501Humanname
597838523CV3758239single nucleotide variantNM_006912.6(RIT1):c.338A>C (p.Glu113Ala)Noonan syndrome 8 [RCV005086073]uncertain significance1155904402155904402Human1name
597839855CV3770369single nucleotide variantNM_006912.6(RIT1):c.638A>G (p.Lys213Arg)Noonan syndrome 8 [RCV005113670]uncertain significance1155900410155900410Human1name
597839859CV3770370single nucleotide variantNM_006912.6(RIT1):c.577A>T (p.Met193Leu)Noonan syndrome 8 [RCV005113671]uncertain significance1155900471155900471Human1name
597839864CV3770371single nucleotide variantNM_006912.6(RIT1):c.413T>C (p.Leu138Pro)Noonan syndrome 8 [RCV005113672]uncertain significance1155904327155904327Human1name
597839868CV3770372single nucleotide variantNM_006912.6(RIT1):c.401A>T (p.Asn134Ile)Noonan syndrome 8 [RCV005113673]uncertain significance1155904339155904339Human1name
597865199CV3792077single nucleotide variantNM_006912.6(RIT1):c.587A>T (p.Lys196Ile)Noonan syndrome 8 [RCV005139633]uncertain significance1155900461155900461Human1name
597885456CV3818294single nucleotide variantNM_006912.6(RIT1):c.644A>C (p.Lys215Thr)Noonan syndrome 8 [RCV005160555]uncertain significance1155900404155900404Human1name
597931369CV3863116single nucleotide variantNM_006912.6(RIT1):c.583A>G (p.Lys195Glu)Noonan syndrome 8 [RCV005205604]uncertain significance1155900465155900465Human1name
598229814CV3899251single nucleotide variantNM_006912.6(RIT1):c.452C>T (p.Ala151Val)Cardiovascular phenotype [RCV005274243]uncertain significance1155900596155900596Humanname
12887465CV390822single nucleotide variantNM_006912.6(RIT1):c.334C>T (p.Arg112Cys)Cardiovascular phenotype [RCV003298464]|Noonan syndrome 8 [RCV000469107]uncertain significance1155904406155904406Human1name
616936902CV4010859single nucleotide variantNM_006912.6(RIT1):c.595C>T (p.Pro199Ser)Cardiovascular phenotype [RCV005404206]uncertain significance1155900453155900453Humanname
12899450CV404947single nucleotide variantNM_006912.6(RIT1):c.508T>C (p.Tyr170His)not provided [RCV000480230]uncertain significance1155900540155900540Humanname
13797335CV552489single nucleotide variantNM_006912.6(RIT1):c.551G>T (p.Arg184Met)Noonan syndrome 8 [RCV005091990]|not provided [RCV000681131]uncertain significance1155900497155900497Human1name
14707302CV626898single nucleotide variantNM_006912.6(RIT1):c.461G>A (p.Arg154Gln)Cardiovascular phenotype [RCV002332657]|Noonan syndrome 8 [RCV000808742]|not provided [RCV001571706]likely benign|uncertain significance1155900587155900587Human1name
34890936CV905875single nucleotide variantNM_006912.6(RIT1):c.506A>G (p.Tyr169Cys)Noonan syndrome 8 [RCV001323575]|not specified [RCV001174627]uncertain significance1155900542155900542Human1name
34895388CV916796single nucleotide variantNM_006912.6(RIT1):c.589T>C (p.Ser197Pro)Noonan syndrome 8 [RCV001859165]|not provided [RCV005423917]|not specified [RCV001192385]uncertain significance1155900459155900459Human1name
38478695CV930058single nucleotide variantNM_006912.6(RIT1):c.367C>T (p.Arg123Cys)Cardiovascular phenotype [RCV002451435]|Noonan syndrome 8 [RCV001205660]|RASopathy [RCV004761975]uncertain significance1155904373155904373Human2name
40813901CV969623single nucleotide variantNM_006912.6(RIT1):c.491C>G (p.Ser164Cys)Fibrous dysplasia of jaw [RCV001261146]|Noonan syndrome 8 [RCV002537616]likely benign|uncertain significance1155900557155900557Human2name
40813900CV969624single nucleotide variantNM_006912.6(RIT1):c.376G>A (p.Asp126Asn)Cardio-facio-cutaneous syndrome [RCV001261145]|Cardiovascular phenotype [RCV004035388]|Noonan syndrome 8 [RCV001880010]|not provided [RCV003405469]uncertain significance1155904364155904364Human2name
40813899CV969625single nucleotide variantNM_006912.6(RIT1):c.313C>T (p.Arg105Cys)Noonan syndrome 8 [RCV002537615]|Noonan syndrome [RCV001261144]likely benign|uncertain significance1155904427155904427Human2name
126763214CV986933single nucleotide variantNM_006912.6(RIT1):c.546A>G (p.Ile182Met)Noonan syndrome 8 [RCV001300610]|not provided [RCV002281180]uncertain significance1155900502155900502Human1name
126751101CV986934single nucleotide variantNM_006912.6(RIT1):c.368G>A (p.Arg123His)Noonan syndrome 8 [RCV001306970]|not provided [RCV001558902]likely benign|uncertain significance1155904372155904372Human1name
155989105CV2066714deletionNM_006912.6(RIT1):c.212_213del (p.Leu71fs)Noonan syndrome 8 [RCV002842883]uncertain significance1155904755155904756Human1name
127231904CV1087488microsatelliteNM_006912.6(RIT1):c.659GAAGA[1] (p.Ter220=)RIT1-related disorder [RCV004746379]|not specified [RCV001420927]likely benign|uncertain significance1155900380155900384Humanname , trait , alternate_id
405084595CV2877773deletionNM_006912.6(RIT1):c.604_605del (p.Ser202fs)Noonan syndrome 8 [RCV003582378]uncertain significance1155900443155900444Human1name
13537315CV498091microsatelliteNM_006912.6(RIT1):c.644_647del (p.Lys215fs)Cardiovascular phenotype [RCV002368035]|Noonan syndrome 8 [RCV000655067]|not provided [RCV001722552]|not specified [RCV004586827]benign|likely benign|uncertain significance1155900401155900404Humanname
126734453CV986936duplicationNM_006912.6(RIT1):c.229_234dup (p.Ala77_Gly78dup)Noonan syndrome 8 [RCV001304442]uncertain significance1155904733155904734Human1name
401830388CV2748063indelNM_006912.6(RIT1):c.653_655delinsCAC (p.Val218_Thr219delinsAlaPro)not provided [RCV003329670]uncertain significance1155900393155900395Humanname
34891359CV906062duplicationNM_006912.6(RIT1):c.563_648dup (p.Ser217delinsArgGlnTyrTrpProTrpArgLysAsnLeuSerProLysThrValTyrGlyArgGlyTer)not specified [RCV001174992]uncertain significance1155900399155900400Humanname