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Pathways
Variants search result for All species
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673 records found for search term Hras
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
126746061CV1015371single nucleotide variantNM_005343.4(HRAS):c.-2C>Anot specified [RCV001328343]uncertain significance11534324534324Humanname
8691300CV141260single nucleotide variantNM_005343.4(HRAS):c.*1C>THRAS-related disorder [RCV003894980]|not provided [RCV000588758]|not specified [RCV000125382]benign|likely benign11532635532635Humanname , trait , alternate_id
38598423CV963282single nucleotide variantNM_005343.4(HRAS):c.-5G>Anot specified [RCV001251409]uncertain significance11534327534327Humanname
150335764CV1172267single nucleotide variantNM_005343.4(HRAS):c.*76G>Cnot provided [RCV001540698]likely benign11532452532452Humanname
150473467CV1217633single nucleotide variantNM_005343.4(HRAS):c.-33G>Anot provided [RCV001615644]benign11534355534355Humanname
8691299CV141259single nucleotide variantNM_005343.4(HRAS):c.-10C>TCostello syndrome [RCV002512524]|Noonan syndrome and Noonan-related syndrome [RCV001813385]|not provided [RCV000509255]|not specified [RCV000154268]benign|not provided11534332534332Human3name
8691299CV141259single nucleotide variantNM_005343.4(HRAS):c.-10C>TCostello syndrome [RCV002512524]|Noonan syndrome and Noonan-related syndrome [RCV001813385]|not provided [RCV000509255]|not specified [RCV000154268]benign|not provided11534332534333Human3name
405654892CV3228370single nucleotide variantNM_005343.4(HRAS):c.-17C>Tnot specified [RCV003995105]benign11534339534339Humanname
13797394CV552664single nucleotide variantNM_005343.4(HRAS):c.-19C>Tnot provided [RCV000681168]likely benign11534341534341Humanname
150474726CV1217844single nucleotide variantNM_005343.4(HRAS):c.-101C>TNoonan syndrome and Noonan-related syndrome [RCV001813603]|not provided [RCV001615855]benign|uncertain significance11535463535463Humanname
598122695CV3884627single nucleotide variantNM_005343.4(HRAS):c.*5+4A>Tnot specified [RCV005237319]uncertain significance11532627532627Humanname
9832734CV48920single nucleotide variantNM_005343.4(HRAS):c.*6-2A>Cnot specified [RCV000157910]likely benign11532524532524Humanname
127251883CV1078344single nucleotide variantNM_005343.4(HRAS):c.112-6C>TCostello syndrome [RCV001400227]likely benign11533950533950Human1name
127325089CV1142410deletionNM_005343.4(HRAS):c.291-9delCostello syndrome [RCV001505890]|HRAS-related disorder [RCV003948481]likely benign11533621533621Human1name , trait , alternate_id
150462616CV1234938single nucleotide variantNM_005343.4(HRAS):c.*5+29C>Tnot provided [RCV001649520]benign11532602532602Humanname
150504609CV1240788single nucleotide variantNM_005343.4(HRAS):c.*5+24C>Tnot provided [RCV001657631]benign11532607532607Humanname
150451692CV1260291single nucleotide variantNM_005343.4(HRAS):c.*5+35C>Tnot provided [RCV001680781]benign11532596532596Humanname
8691301CV141261single nucleotide variantNM_005343.4(HRAS):c.*5+14C>Anot specified [RCV000125383]benign11532617532617Humanname
152122046CV1547690single nucleotide variantNM_005343.4(HRAS):c.451-6T>CCostello syndrome [RCV002081687]likely benign11532761532761Human1name
152147049CV1608094single nucleotide variantNM_005343.4(HRAS):c.111+8T>CCostello syndrome [RCV002178880]likely benign11534204534204Human1name
152142270CV1629083single nucleotide variantNM_005343.4(HRAS):c.112-9C>TCostello syndrome [RCV002100938]likely benign11533953533953Human1name
152159967CV1649968single nucleotide variantNM_005343.4(HRAS):c.451-9C>TCostello syndrome [RCV002159464]likely benign11532764532764Human1name
155676040CV1854361single nucleotide variantNM_005343.4(HRAS):c.290+3G>TCardiovascular phenotype [RCV002438068]|Costello syndrome [RCV003102855]uncertain significance11533763533763Human1name
156046443CV1887503single nucleotide variantNM_005343.4(HRAS):c.450+7C>TCostello syndrome [RCV003078717]likely benign|uncertain significance11533446533446Human1name
156316703CV1901273single nucleotide variantNM_005343.4(HRAS):c.450+9G>ACostello syndrome [RCV002578989]likely benign11533444533444Human1name
156016331CV1993285single nucleotide variantNM_005343.4(HRAS):c.290+7C>TCostello syndrome [RCV002636482]likely benign11533759533759Human1name
156293414CV2152727single nucleotide variantNM_005343.4(HRAS):c.451-4C>GCostello syndrome [RCV003010060]likely benign11532759532759Human1name
11347570CV241156single nucleotide variantNM_005343.4(HRAS):c.290+6C>ACostello syndrome [RCV000232587]uncertain significance11533760533760Human1name
11348575CV241158single nucleotide variantNM_005343.4(HRAS):c.111+6C>TCardiovascular phenotype [RCV004020817]|Costello syndrome [RCV000227164]uncertain significance11534206534206Human1name
401723858CV2737895single nucleotide variantNM_005343.4(HRAS):c.-53-5G>Anot provided [RCV003315067]uncertain significance11534380534380Humanname
401940292CV2832651single nucleotide variantNM_005343.4(HRAS):c.-54+3G>ACostello syndrome [RCV003448632]uncertain significance11535413535413Human1name
405024673CV2890509single nucleotide variantNM_005343.4(HRAS):c.290+3G>ACostello syndrome [RCV003516258]uncertain significance11533763533763Human1name
405012956CV2910151single nucleotide variantNM_005343.4(HRAS):c.291-5C>GCostello syndrome [RCV003515141]likely benign11533617533617Human1name
402501104CV2995985single nucleotide variantNM_005343.4(HRAS):c.290+7C>GCostello syndrome [RCV003628317]likely benign11533759533759Human1name
404977736CV3127260single nucleotide variantNM_005343.4(HRAS):c.450+4A>CCostello syndrome [RCV003825484]uncertain significance11533449533449Human1name
408375998CV3505460single nucleotide variantNM_005343.4(HRAS):c.112-9C>GCostello syndrome [RCV005103651]|HRAS-related disorder [RCV004726495]likely benign11533953533953Human1name , trait , alternate_id
12846482CV371481single nucleotide variantNM_005343.4(HRAS):c.*5+20C>Tnot provided [RCV004718629]|not specified [RCV000441723]benign11532611532611Humanname
12841911CV374139single nucleotide variantNM_005343.4(HRAS):c.291-8C>TCostello syndrome [RCV001084880]|not provided [RCV000433431]likely benign11533620533620Human1name
597845472CV3765483deletionNM_005343.4(HRAS):c.450+6delCostello syndrome [RCV005121127]uncertain significance11533447533447Human1name
597862705CV3795711single nucleotide variantNM_005343.4(HRAS):c.291-7C>GCostello syndrome [RCV005136721]likely benign11533619533619Human1name
597905535CV3836030single nucleotide variantNM_005343.4(HRAS):c.111+3G>ACostello syndrome [RCV005179803]uncertain significance11534209534209Human1name
12891199CV398664single nucleotide variantNM_005343.4(HRAS):c.451-5C>GCostello syndrome [RCV001078758]|not provided [RCV000681281]likely benign|conflicting interpretations of pathogenicity|uncertain significance11532760532760Human1name
617152962CV4018516single nucleotide variantNM_005343.4(HRAS):c.*5+11C>Anot specified [RCV005418777]uncertain significance11532620532620Humanname
13479635CV442535single nucleotide variantNM_005343.4(HRAS):c.291-6T>GCostello syndrome [RCV000872282]|HRAS-related disorder [RCV003962443]|Hereditary cancer-predisposing syndrome [RCV002257777]|Large congenital melanocytic nevus [RCV002497006]|RASopathy [RCV000521008]|not specified [RCV001255585]benign|likely benign11533618533618Human16name , trait , alternate_id
13470429CV461205single nucleotide variantNM_005343.4(HRAS):c.290+9C>TCostello syndrome [RCV001425103]likely benign11533757533757Human1name
150485741CV48919single nucleotide variantNM_005343.4(HRAS):c.*6-48G>Anot provided [RCV001715658]benign11532570532570Humanname
13536590CV503299single nucleotide variantNM_005343.4(HRAS):c.-54+7G>Anot specified [RCV000609219]likely benign11535409535409Humanname
13527898CV503676single nucleotide variantNM_005343.4(HRAS):c.451-5C>TCardiovascular phenotype [RCV004024985]|Costello syndrome [RCV000637310]|not provided [RCV001698422]likely benign|uncertain significance11532760532760Human1name
13797922CV552658single nucleotide variantNM_005343.4(HRAS):c.*5+14C>Gnot provided [RCV000680622]likely benign11532617532617Humanname
14691366CV621820single nucleotide variantNM_005343.4(HRAS):c.291-9A>GCostello syndrome [RCV000864531]|not specified [RCV000781471]likely benign|uncertain significance11533621533621Human1name
14706248CV652212single nucleotide variantNM_005343.4(HRAS):c.451-3C>TCostello syndrome [RCV000803345]|not specified [RCV005407973]uncertain significance11532758532758Human1name
14705936CV652331single nucleotide variantNM_005343.4(HRAS):c.290+9C>GCostello syndrome [RCV000802561]uncertain significance11533757533757Human1name
14702869CV653976single nucleotide variantNM_005343.4(HRAS):c.451-4C>TCostello syndrome [RCV000874555]|Noonan syndrome [RCV000824933]likely benign11532759532759Human2name
15137589CV695528single nucleotide variantNM_005343.4(HRAS):c.451-8T>CCostello syndrome [RCV000877025]likely benign11532763532763Human1name
15176688CV775696single nucleotide variantNM_005343.4(HRAS):c.111+7C>TCostello syndrome [RCV001463156]likely benign11534205534205Human1name
15174039CV775857single nucleotide variantNM_005343.4(HRAS):c.112-4G>ACostello syndrome [RCV001416693]|not specified [RCV001797803]likely benign|uncertain significance11533948533948Human1name
15107782CV779544single nucleotide variantNM_005343.4(HRAS):c.112-7C>TCostello syndrome [RCV002066363]likely benign11533951533951Human1name
34896626CV917489single nucleotide variantNM_005343.4(HRAS):c.290+1G>Cnot specified [RCV001194130]uncertain significance11533765533765Humanname
38457167CV959992single nucleotide variantNM_005343.4(HRAS):c.451-6T>GCostello syndrome [RCV001228584]likely benign|uncertain significance11532761532761Human1name
126740336CV994568single nucleotide variantNM_005343.4(HRAS):c.291-3C>TCostello syndrome [RCV001305262]|Hereditary cancer-predisposing syndrome [RCV002258190]uncertain significance11533615533615Human2name
127266782CV1100059single nucleotide variantNM_005343.4(HRAS):c.291-10C>TCostello syndrome [RCV001440352]likely benign11533622533622Human1name
150340433CV1168241single nucleotide variantNM_005343.4(HRAS):c.291-30C>Tnot provided [RCV001535365]benign11533642533642Humanname
150509306CV1214267single nucleotide variantNM_005343.4(HRAS):c.450+38C>Tnot provided [RCV001596788]benign11533415533415Humanname
150462240CV1234883single nucleotide variantNM_005343.4(HRAS):c.-54+47C>Tnot provided [RCV001649465]benign11535369535369Humanname
150500480CV1256106single nucleotide variantNM_005343.4(HRAS):c.450+49G>Anot provided [RCV001676730]benign11533404533404Humanname
151817366CV1337424single nucleotide variantNM_005343.4(HRAS):c.112-13T>CCostello syndrome [RCV001919222]likely benign11533957533957Human1name
151856966CV1401962single nucleotide variantNM_005343.4(HRAS):c.111+11C>TCostello syndrome [RCV002017298]likely benign|uncertain significance11534201534201Human1name
151837109CV1416846single nucleotide variantNM_005343.4(HRAS):c.112-10C>ACostello syndrome [RCV002014909]likely benign|uncertain significance11533954533954Human1name
152117932CV1522228single nucleotide variantNM_005343.4(HRAS):c.451-17C>TCostello syndrome [RCV002081150]likely benign11532772532772Human1name
152159429CV1522637single nucleotide variantNM_005343.4(HRAS):c.112-19G>CCostello syndrome [RCV002140662]likely benign11533963533963Human1name
152057790CV1523246single nucleotide variantNM_005343.4(HRAS):c.291-16G>CCostello syndrome [RCV002167655]likely benign11533628533628Human1name
152152420CV1529506single nucleotide variantNM_005343.4(HRAS):c.111+17C>TCostello syndrome [RCV002202177]likely benign11534195534195Human1name
152126997CV1530216duplicationNM_005343.4(HRAS):c.112-20dupCostello syndrome [RCV002198809]likely benign11533963533964Human1name
152110065CV1536917single nucleotide variantNM_005343.4(HRAS):c.451-14C>TCostello syndrome [RCV002215359]likely benign11532769532769Human1name
152116512CV1540987single nucleotide variantNM_005343.4(HRAS):c.112-19G>ACostello syndrome [RCV002197464]likely benign11533963533963Human1name
152149288CV1545362single nucleotide variantNM_005343.4(HRAS):c.451-15T>CCostello syndrome [RCV002121516]likely benign11532770532770Human1name
152075738CV1551258single nucleotide variantNM_005343.4(HRAS):c.112-14C>TCostello syndrome [RCV002192380]likely benign11533958533958Human1name
152123703CV1570622single nucleotide variantNM_005343.4(HRAS):c.451-12C>TCostello syndrome [RCV002217118]likely benign11532767532767Human1name
152033988CV1573184single nucleotide variantNM_005343.4(HRAS):c.290+14G>ACostello syndrome [RCV002187185]likely benign11533752533752Human1name
152053995CV1575120single nucleotide variantNM_005343.4(HRAS):c.111+18G>ACostello syndrome [RCV002109318]likely benign11534194534194Human1name
152113149CV1586634single nucleotide variantNM_005343.4(HRAS):c.450+20C>GCostello syndrome [RCV002197051]likely benign11533433533433Human1name
152026978CV1593726single nucleotide variantNM_005343.4(HRAS):c.291-13T>GCostello syndrome [RCV002104738]likely benign11533625533625Human1name
152176427CV1594208single nucleotide variantNM_005343.4(HRAS):c.291-18T>CCostello syndrome [RCV002164572]likely benign11533630533630Human1name
152082086CV1607942single nucleotide variantNM_005343.4(HRAS):c.451-13C>ACostello syndrome [RCV002193154]likely benign11532768532768Human1name
152087997CV1614720single nucleotide variantNM_005343.4(HRAS):c.291-15C>TCostello syndrome [RCV002093772]likely benign11533627533627Human1name
152043208CV1624367single nucleotide variantNM_005343.4(HRAS):c.451-13C>TCostello syndrome [RCV002126356]likely benign11532768532768Human1name
152141917CV1629020single nucleotide variantNM_005343.4(HRAS):c.450+15C>TCostello syndrome [RCV002100893]likely benign11533438533438Human1name
152115569CV1640023single nucleotide variantNM_005343.4(HRAS):c.291-17C>TCostello syndrome [RCV002080842]likely benign11533629533629Human1name
152123450CV1641126single nucleotide variantNM_005343.4(HRAS):c.450+13T>CCostello syndrome [RCV002098481]likely benign11533440533440Human1name
152101804CV1645911single nucleotide variantNM_005343.4(HRAS):c.450+16A>GCostello syndrome [RCV002173201]likely benign11533437533437Human1name
152038875CV1647858single nucleotide variantNM_005343.4(HRAS):c.291-16G>ACostello syndrome [RCV002087656]likely benign11533628533628Human1name
152115513CV1654081single nucleotide variantNM_005343.4(HRAS):c.112-12G>ACostello syndrome [RCV002097425]likely benign11533956533956Human1name
152124380CV1665670single nucleotide variantNM_005343.4(HRAS):c.290+10G>CCostello syndrome [RCV002198483]likely benign11533756533756Human1name
152125316CV1665783single nucleotide variantNM_005343.4(HRAS):c.291-15C>ACostello syndrome [RCV002198596]likely benign11533627533627Human1name
9690632CV174802single nucleotide variantNM_005343.4(HRAS):c.450+84C>Anot specified [RCV000156318]uncertain significance11533369533369Humanname
9691714CV175215single nucleotide variantNM_005343.4(HRAS):c.112-10C>TCostello syndrome [RCV000637313]|not specified [RCV000150833]likely benign11533954533954Human1name
156405714CV1884567single nucleotide variantNM_005343.4(HRAS):c.112-14C>GCostello syndrome [RCV003070110]likely benign11533958533958Human1name
156046674CV1887518single nucleotide variantNM_005343.4(HRAS):c.451-19C>TCostello syndrome [RCV003078725]likely benign11532774532774Human1name
156411107CV1892920single nucleotide variantNM_005343.4(HRAS):c.112-11T>ACostello syndrome [RCV003072336]uncertain significance11533955533955Human1name
156330206CV1954038single nucleotide variantNM_005343.4(HRAS):c.450+20C>TCostello syndrome [RCV002579954]likely benign11533433533433Human1name
156035025CV2002596single nucleotide variantNM_005343.4(HRAS):c.450+14C>TCostello syndrome [RCV002658816]likely benign11533439533439Human1name
156274898CV2014890single nucleotide variantNM_005343.4(HRAS):c.450+18C>ACostello syndrome [RCV002715106]likely benign11533435533435Human1name
156074101CV2029213single nucleotide variantNM_005343.4(HRAS):c.290+19G>CCostello syndrome [RCV002760412]likely benign11533747533747Human1name
156315560CV2086013single nucleotide variantNM_005343.4(HRAS):c.451-20T>GCostello syndrome [RCV002898970]likely benign11532775532775Human1name
156026702CV2139217single nucleotide variantNM_005343.4(HRAS):c.112-17G>TCostello syndrome [RCV002998955]likely benign11533961533961Human1name
155964988CV2155923single nucleotide variantNM_005343.4(HRAS):c.112-18A>TCostello syndrome [RCV003015653]likely benign11533962533962Human1name
156351689CV2190347single nucleotide variantNM_005343.4(HRAS):c.111+12G>ACostello syndrome [RCV003048383]likely benign11534200534200Human1name
405016332CV2856476single nucleotide variantNM_005343.4(HRAS):c.451-16A>GCostello syndrome [RCV003515472]likely benign11532771532771Human1name
405015602CV2859078single nucleotide variantNM_005343.4(HRAS):c.290+16C>TCostello syndrome [RCV003515370]likely benign11533750533750Human1name
405004453CV2889088single nucleotide variantNM_005343.4(HRAS):c.290+15G>ACostello syndrome [RCV003514181]likely benign11533751533751Human1name
405010631CV2915442single nucleotide variantNM_005343.4(HRAS):c.290+15G>CCostello syndrome [RCV003514925]likely benign11533751533751Human1name
405013631CV2921187single nucleotide variantNM_005343.4(HRAS):c.450+19C>TCostello syndrome [RCV003515202]likely benign11533434533434Human1name
402496845CV2965888single nucleotide variantNM_005343.4(HRAS):c.111+15G>CCostello syndrome [RCV003627839]likely benign11534197534197Human1name
402497112CV2966200single nucleotide variantNM_005343.4(HRAS):c.290+19G>TCostello syndrome [RCV003627867]likely benign11533747533747Human1name
405221846CV3158182single nucleotide variantNM_005343.4(HRAS):c.290+11T>CCostello syndrome [RCV003863678]likely benign11533755533755Human1name
405249485CV3170095single nucleotide variantNM_005343.4(HRAS):c.451-14C>ACostello syndrome [RCV003869724]likely benign11532769532769Human1name
405000808CV3183978single nucleotide variantNM_005343.4(HRAS):c.291-11C>TCostello syndrome [RCV003882561]likely benign11533623533623Human1name
12846731CV371488single nucleotide variantNM_005343.4(HRAS):c.450+18C>TCostello syndrome [RCV002059560]|not provided [RCV000442192]likely benign11533435533435Human1name
12839713CV374147single nucleotide variantNM_005343.4(HRAS):c.-53-17A>Gnot provided [RCV000429334]benign|likely benign11534392534392Humanname
597969557CV3753399single nucleotide variantNM_005343.4(HRAS):c.451-13C>GCostello syndrome [RCV005083884]likely benign11532768532768Human1name
597854672CV3778875single nucleotide variantNM_005343.4(HRAS):c.450+12C>TCostello syndrome [RCV005129220]likely benign11533441533441Human1name
597854763CV3778923single nucleotide variantNM_005343.4(HRAS):c.112-11T>CCostello syndrome [RCV005129268]likely benign11533955533955Human1name
597926002CV3856468single nucleotide variantNM_005343.4(HRAS):c.290+20C>TCostello syndrome [RCV005200533]likely benign11533746533746Human1name
150485706CV48899single nucleotide variantNM_005343.4(HRAS):c.-53-10T>Cnot provided [RCV001715651]benign11534385534385Humanname
8608134CV48902single nucleotide variantNM_005343.4(HRAS):c.111+15G>ACostello syndrome [RCV002054538]|not provided [RCV001636610]|not specified [RCV000038454]benign11534197534197Human1name
150485731CV48903single nucleotide variantNM_005343.4(HRAS):c.111+50C>Gnot provided [RCV001715656]benign11534162534162Humanname
150468204CV48904single nucleotide variantNM_005343.4(HRAS):c.111+75C>Gnot provided [RCV001650464]benign11534137534137Humanname
13538494CV503876single nucleotide variantNM_005343.4(HRAS):c.291-17C>GCostello syndrome [RCV003767572]|not specified [RCV000611909]likely benign11533629533629Human1name
13529657CV503878single nucleotide variantNM_005343.4(HRAS):c.111+14C>TCostello syndrome [RCV002064333]|not specified [RCV000600392]likely benign11534198534198Human1name
13796762CV552659single nucleotide variantNM_005343.4(HRAS):c.451-48C>Tnot provided [RCV000680739]likely benign11532803532803Humanname
15116581CV744533single nucleotide variantNM_005343.4(HRAS):c.451-10C>TCostello syndrome [RCV000895227]likely benign11532765532765Human1name
15194268CV775739single nucleotide variantNM_005343.4(HRAS):c.111+10G>ACostello syndrome [RCV003514442]likely benign11534202534202Human1name
38597919CV861315duplicationNM_005343.4(HRAS):c.450+38dupSquamous cell lung carcinoma [RCV001250978]uncertain significance11533414533415Human2name
38597921CV861316single nucleotide variantNM_005343.4(HRAS):c.450+35A>CSquamous cell lung carcinoma [RCV001250979]uncertain significance11533418533418Human2name
38597923CV861317single nucleotide variantNM_005343.4(HRAS):c.450+31A>GSquamous cell lung carcinoma [RCV001250980]uncertain significance11533422533422Human2name
38597924CV861318single nucleotide variantNM_005343.4(HRAS):c.111+18G>CSquamous cell lung carcinoma [RCV001250981]uncertain significance11534194534194Human2name
34891285CV906055single nucleotide variantNM_005343.4(HRAS):c.450+17C>TCostello syndrome [RCV002559679]|not specified [RCV001174936]likely benign|uncertain significance11533436533436Human1name
34896633CV917487single nucleotide variantNM_005343.4(HRAS):c.450+20C>ACostello syndrome [RCV002069249]|not specified [RCV001194133]likely benign|uncertain significance11533433533433Human1name
34896629CV917488single nucleotide variantNM_005343.4(HRAS):c.290+10G>ACostello syndrome [RCV002559226]|not specified [RCV001194131]likely benign|uncertain significance11533756533756Human1name
40903250CV975806single nucleotide variantNM_005343.4(HRAS):c.112-13T>ACostello syndrome [RCV002069390]|not provided [RCV001683760]|not specified [RCV001269170]likely benign|uncertain significance11533957533957Human1name
150514185CV1228096single nucleotide variantNM_005343.4(HRAS):c.451-224G>Anot provided [RCV001638374]benign11532979532979Humanname
9693607CV175213single nucleotide variantNM_005343.4(HRAS):c.450+171C>Tnot specified [RCV000156659]not provided11533282533282Humanname
401946258CV2839621single nucleotide variantNM_005343.4(HRAS):c.450+181G>AEpidermolytic nevus [RCV003458963]uncertain significance11533272533272Humanname
405274707CV3209588single nucleotide variantNM_005343.4(HRAS):c.450+170T>GHRAS-related disorder [RCV003951848]likely benign11533283533283Humanname , trait , alternate_id
12848431CV371486single nucleotide variantNM_005343.4(HRAS):c.450+174G>AHRAS-related disorder [RCV003902493]|not provided [RCV000445288]likely benign11533279533279Humanname , trait , alternate_id
13796639CV552660single nucleotide variantNM_005343.4(HRAS):c.451-168T>Gnot provided [RCV000680678]benign11532923532923Humanname
13797546CV552661single nucleotide variantNM_005343.4(HRAS):c.451-282C>Tnot provided [RCV000681305]benign11533037533037Humanname
13796765CV552662single nucleotide variantNM_005343.4(HRAS):c.451-341G>Anot provided [RCV000680741]likely benign11533096533096Humanname
151805012CV1444278deletionNM_005343.4(HRAS):c.110_111+5delCostello syndrome [RCV001918065]uncertain significance11534207534213Human1name
8568000CV38866duplicationNM_005343.4(HRAS):c.110_111+1dupCostello syndrome [RCV000022797]pathogenic11534210534211Human1name
12901611CV408385microsatelliteNM_005343.4(HRAS):c.-95CGGCCC[1]not specified [RCV000485121]benign11535446535451Humanname
150536418CV1293057microsatelliteNM_005343.4(HRAS):c.-54+103CGG[6]not provided [RCV001762843]benign11535290535295Humanname
152157092CV1668956deletionNM_176795.5(HRAS):c.451-12_451delnot specified [RCV002223165]uncertain significance11533358533370Humanname
402503552CV3016782deletionNM_005343.4(HRAS):c.440_450+16delCostello syndrome [RCV003628571]uncertain significance11533437533463Human1name
152158732CV1529100single nucleotide variantNM_005343.4(HRAS):c.6G>A (p.Thr2=)Cardiovascular phenotype [RCV002373015]|Costello syndrome [RCV002159247]likely benign11534317534317Human1name
15170412CV779542microsatelliteNM_005343.4(HRAS):c.291-4_291-3delCostello syndrome [RCV001401902]likely benign11533615533616Humanname
26905478CV852362microsatelliteNM_005343.4(HRAS):c.112-7_112-5delCostello syndrome [RCV001037002]likely benign|uncertain significance11533949533951Humanname
127245650CV1078346single nucleotide variantNM_005343.4(HRAS):c.15G>A (p.Lys5=)Cardiovascular phenotype [RCV002404980]|Costello syndrome [RCV001416541]likely benign11534308534308Human1name
150409896CV1191238single nucleotide variantNM_005343.4(HRAS):c.24G>C (p.Val8=)Costello syndrome [RCV002072165]|not provided [RCV001565820]likely benign11534299534299Human1name
152086419CV1573882duplicationNM_005343.4(HRAS):c.451-22_451-8dupCostello syndrome [RCV002149986]likely benign11532762532763Human1name
152035260CV1590349single nucleotide variantNM_005343.4(HRAS):c.12T>C (p.Tyr4=)Costello syndrome [RCV002205476]likely benign11534311534311Human1name
155689800CV1850591single nucleotide variantNM_005343.4(HRAS):c.21G>C (p.Val7=)Cardiovascular phenotype [RCV002425716]|Costello syndrome [RCV003098707]|not provided [RCV002466758]likely benign|uncertain significance11534302534302Human1name
12890998CV398321single nucleotide variantNM_005343.4(HRAS):c.16C>T (p.Leu6=)Cardiovascular phenotype [RCV002411554]|Costello syndrome [RCV001473659]likely benign11534307534307Human1name
38597854CV964672deletionNM_005343.4(HRAS):c.112-59_*6-51delCostello syndrome [RCV001253224]uncertain significance11532573534003Human1name
127233370CV1078345single nucleotide variantNM_005343.4(HRAS):c.99C>T (p.Asp33=)Costello syndrome [RCV001413845]likely benign11534224534224Human1name
127276422CV1100066single nucleotide variantNM_005343.4(HRAS):c.55C>T (p.Leu19=)Costello syndrome [RCV001443802]likely benign11534268534268Human1name
127323781CV1121550single nucleotide variantNM_005343.4(HRAS):c.33C>T (p.Ala11=)Costello syndrome [RCV001467991]likely benign11534290534290Human1name
127298609CV1121551single nucleotide variantNM_005343.4(HRAS):c.30C>T (p.Gly10=)Costello syndrome [RCV001453365]likely benign11534293534293Human1name
151804301CV1444150single nucleotide variantNM_005343.4(HRAS):c.5C>G (p.Thr2Arg)Costello syndrome [RCV001917995]uncertain significance11534318534318Human1name
9690198CV174804single nucleotide variantNM_005343.4(HRAS):c.45C>T (p.Gly15=)Costello syndrome [RCV000818776]|HRAS-related disorder [RCV003952786]|Hereditary cancer-predisposing syndrome [RCV002257458]|not provided [RCV000585962]|not specified [RCV000155869]likely benign|uncertain significance11534278534278Human2name , trait , alternate_id
9689178CV175216single nucleotide variantNM_005343.4(HRAS):c.36C>A (p.Gly12=)not specified [RCV000154620]not provided11534287534287Humanname
156359400CV1904226duplicationNM_005343.4(HRAS):c.25dup (p.Val9fs)Costello syndrome [RCV002581623]uncertain significance11534297534298Human1name
11039904CV223774single nucleotide variantNM_005343.4(HRAS):c.36C>T (p.Gly12=)Costello syndrome [RCV000207496]|HRAS-related disorder [RCV003927887]|Noonan syndrome and Noonan-related syndrome [RCV001813428]|RASopathy [RCV000522904]|not provided [RCV000586057]pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance11534287534287Human2name , trait , alternate_id
11347479CV241159single nucleotide variantNM_005343.4(HRAS):c.4A>G (p.Thr2Ala)Costello syndrome [RCV000232309]uncertain significance11534319534319Human1name
11544859CV254211single nucleotide variantNM_005343.4(HRAS):c.57G>C (p.Leu19=)Cardiovascular phenotype [RCV002356348]|Costello syndrome [RCV000874891]|not specified [RCV000244358]likely benign11534266534266Human1name
11547182CV254212single nucleotide variantNM_005343.4(HRAS):c.42G>A (p.Val14=)Cardiovascular phenotype [RCV002328743]|Costello syndrome [RCV000462480]|not provided [RCV001597013]|not specified [RCV000247431]likely benign11534281534281Human1name
405009272CV2860501single nucleotide variantNM_005343.4(HRAS):c.45C>G (p.Gly15=)Costello syndrome [RCV003514704]likely benign11534278534278Human1name
402494219CV3074836single nucleotide variantNM_005343.4(HRAS):c.67C>T (p.Leu23=)Costello syndrome [RCV003627545]likely benign11534256534256Human1name
12844300CV372233single nucleotide variantNM_005343.4(HRAS):c.54G>A (p.Ala18=)Cardiovascular phenotype [RCV002348170]|Costello syndrome [RCV001084746]|not provided [RCV000437756]|not specified [RCV001175031]benign|likely benign11534269534269Human1name
597930703CV3851987single nucleotide variantNM_005343.4(HRAS):c.48G>A (p.Lys16=)Costello syndrome [RCV005204967]likely benign11534275534275Human1name
8608147CV48901single nucleotide variantNM_005343.4(HRAS):c.81T>C (p.His27=)Cardiovascular phenotype [RCV002426537]|Costello syndrome [RCV000659682]|Noonan syndrome and Noonan-related syndrome [RCV001813233]|RASopathy [RCV000149841]|Squamous cell lung carcinoma [RCV001250943]|not provided [RCV000509400]|not specified [RCV000038468]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided11534242534242Human4name
13528930CV503881single nucleotide variantNM_005343.4(HRAS):c.84T>C (p.Phe28=)Costello syndrome [RCV001463449]|not specified [RCV000600165]likely benign11534239534239Human1name
13605872CV526310single nucleotide variantNM_005343.4(HRAS):c.96C>T (p.Tyr32=)Cardiovascular phenotype [RCV002386025]|Costello syndrome [RCV000637312]|not provided [RCV001564192]|not specified [RCV000781470]likely benign|uncertain significance11534227534227Human1name
13796557CV552665deletionNM_005343.4(HRAS):c.-53-40_-53-29delnot provided [RCV000680644]benign11534404534415Humanname
13796559CV552666deletionNM_005343.4(HRAS):c.-53-40_-53-35delnot provided [RCV000680646]benign11534410534415Humanname
14728459CV640158single nucleotide variantNM_005343.4(HRAS):c.5C>T (p.Thr2Met)Costello syndrome [RCV000816525]uncertain significance11534318534318Human1name
15124549CV693060single nucleotide variantNM_005343.4(HRAS):c.90C>T (p.Asp30=)Costello syndrome [RCV000874791]likely benign11534233534233Human1name
15105657CV693061single nucleotide variantNM_005343.4(HRAS):c.69G>A (p.Leu23=)Costello syndrome [RCV000871145]|not specified [RCV001420954]likely benign11534254534254Human1name
15119704CV693062single nucleotide variantNM_005343.4(HRAS):c.60C>T (p.Thr20=)Costello syndrome [RCV000873928]likely benign11534263534263Human1name
15105267CV701803single nucleotide variantNM_005343.4(HRAS):c.54G>C (p.Ala18=)Costello syndrome [RCV001502715]likely benign11534269534269Human1name
127238397CV1078342single nucleotide variantNM_005343.4(HRAS):c.261C>T (p.Thr87=)Cardiovascular phenotype [RCV002456666]|Costello syndrome [RCV001415096]|not provided [RCV004801008]likely benign|uncertain significance11533795533795Human1name
127268581CV1078343single nucleotide variantNM_005343.4(HRAS):c.159G>A (p.Leu53=)Costello syndrome [RCV001404417]likely benign11533897533897Human1name
127279433CV1100060single nucleotide variantNM_005343.4(HRAS):c.288C>T (p.Tyr96=)Costello syndrome [RCV001445773]likely benign11533768533768Human1name
127246123CV1100061single nucleotide variantNM_005343.4(HRAS):c.279C>T (p.Ile93=)Costello syndrome [RCV001435343]likely benign11533777533777Human1name
127267667CV1100062single nucleotide variantNM_005343.4(HRAS):c.222C>G (p.Thr74=)Costello syndrome [RCV001429768]likely benign11533834533834Human1name
127258569CV1100063single nucleotide variantNM_005343.4(HRAS):c.198C>T (p.Ala66=)Costello syndrome [RCV001438160]likely benign11533858533858Human1name
127283141CV1100064single nucleotide variantNM_005343.4(HRAS):c.147G>A (p.Glu49=)Cardiovascular phenotype [RCV002396039]|Costello syndrome [RCV001448313]|not specified [RCV005237822]likely benign11533909533909Human1name
127282231CV1100065single nucleotide variantNM_005343.4(HRAS):c.123G>C (p.Arg41=)Cardiovascular phenotype [RCV002384695]|Costello syndrome [RCV001447692]likely benign11533933533933Human1name
127335421CV1121543single nucleotide variantNM_005343.4(HRAS):c.297G>A (p.Gln99=)Cardiovascular phenotype [RCV002439133]|Costello syndrome [RCV001474289]likely benign11533606533606Human1name
127294375CV1121544single nucleotide variantNM_005343.4(HRAS):c.258C>T (p.Asn86=)Costello syndrome [RCV001452227]likely benign11533798533798Human1name
127318402CV1121545single nucleotide variantNM_005343.4(HRAS):c.255C>T (p.Asn85=)Cardiovascular phenotype [RCV002432305]|Costello syndrome [RCV001466181]likely benign11533801533801Human1name
127292911CV1121546single nucleotide variantNM_005343.4(HRAS):c.235C>T (p.Leu79=)Costello syndrome [RCV001459074]likely benign11533821533821Human1name
127292836CV1121547single nucleotide variantNM_005343.4(HRAS):c.192C>T (p.Tyr64=)Cardiovascular phenotype [RCV004995846]|Costello syndrome [RCV001459048]|HRAS-related disorder [RCV003965911]|not specified [RCV002282553]likely benign11533864533864Human1name , trait , alternate_id
127314533CV1121548single nucleotide variantNM_005343.4(HRAS):c.177C>G (p.Ala59=)Costello syndrome [RCV001457720]likely benign11533879533879Human1name
127334957CV1121549single nucleotide variantNM_005343.4(HRAS):c.165C>T (p.Ile55=)Costello syndrome [RCV001473943]likely benign11533891533891Human1name
127336650CV1142411single nucleotide variantNM_005343.4(HRAS):c.273G>A (p.Glu91=)Costello syndrome [RCV001492334]likely benign11533783533783Human1name
127299817CV1142412single nucleotide variantNM_005343.4(HRAS):c.202C>A (p.Arg68=)Costello syndrome [RCV001498417]likely benign11533854533854Human1name
151748478CV1353219single nucleotide variantNM_005343.4(HRAS):c.11A>C (p.Tyr4Ser)Costello syndrome [RCV001912723]uncertain significance11534312534312Human1name
152050475CV1527775single nucleotide variantNM_005343.4(HRAS):c.166C>T (p.Leu56=)Costello syndrome [RCV002089090]likely benign11533890533890Human1name
152143507CV1557016single nucleotide variantNM_005343.4(HRAS):c.138T>C (p.Ile46=)Costello syndrome [RCV002200887]likely benign11533918533918Human1name
152035125CV1582924single nucleotide variantNM_005343.4(HRAS):c.210G>A (p.Gln70=)Costello syndrome [RCV002106859]likely benign11533846533846Human1name
152133337CV1585229single nucleotide variantNM_005343.4(HRAS):c.237G>T (p.Leu79=)Costello syndrome [RCV002083168]likely benign11533819533819Human1name
152050269CV1585702single nucleotide variantNM_005343.4(HRAS):c.150G>T (p.Thr50=)Cardiovascular phenotype [RCV002391278]|Costello syndrome [RCV002145600]likely benign11533906533906Human1name
152097117CV1587042single nucleotide variantNM_005343.4(HRAS):c.249C>G (p.Ala83=)Costello syndrome [RCV002078499]likely benign11533807533807Human1name
152159805CV1588277single nucleotide variantNM_005343.4(HRAS):c.195C>T (p.Ser65=)Costello syndrome [RCV002180731]likely benign11533861533861Human1name
152047720CV1619952single nucleotide variantNM_005343.4(HRAS):c.126G>A (p.Lys42=)Costello syndrome [RCV002207120]likely benign11533930533930Human1name
155643744CV1709540single nucleotide variantNM_005343.4(HRAS):c.243G>T (p.Val81=)Prostate cancer, hereditary, 1 [RCV002292423]uncertain significance11533813533813Human1name
155721355CV1776444single nucleotide variantNM_005343.4(HRAS):c.19G>T (p.Val7Leu)Costello syndrome [RCV002296714]uncertain significance11534304534304Human1name
9832731CV179418single nucleotide variantNM_005343.4(HRAS):c.177C>T (p.Ala59=)Cardiovascular phenotype [RCV002408711]|Costello syndrome [RCV000470354]|Hereditary cancer-predisposing syndrome [RCV002258815]|Noonan syndrome and Noonan-related syndrome [RCV001813409]|not provided [RCV003390854]|not specified [RCV000157907]benign|likely benign|conflicting interpretations of pathogenicity11533879533879Human2name
155680009CV1853143single nucleotide variantNM_005343.4(HRAS):c.276C>T (p.Asp92=)Cardiovascular phenotype [RCV002439594]likely benign11533780533780Humanname
156419401CV1932766single nucleotide variantNM_005343.4(HRAS):c.294G>A (p.Glu98=)Costello syndrome [RCV002612633]likely benign|uncertain significance11533609533609Human1name
156409573CV1961851single nucleotide variantNM_005343.4(HRAS):c.243G>A (p.Val81=)Costello syndrome [RCV002586862]likely benign11533813533813Human1name
156077388CV2011852single nucleotide variantNM_005343.4(HRAS):c.183G>A (p.Gln61=)Cardiovascular phenotype [RCV005351004]|Costello syndrome [RCV002705877]likely benign11533873533873Human1name
155950882CV2013982single nucleotide variantNM_005343.4(HRAS):c.157T>C (p.Leu53=)Costello syndrome [RCV002686015]likely benign11533899533899Human1name
155904587CV2084082single nucleotide variantNM_005343.4(HRAS):c.150G>C (p.Thr50=)Costello syndrome [RCV002858072]likely benign11533906533906Human1name
156265213CV2100898single nucleotide variantNM_005343.4(HRAS):c.291G>A (p.Arg97=)Costello syndrome [RCV002877412]likely benign|uncertain significance11533612533612Human1name
156161815CV2135397single nucleotide variantNM_005343.4(HRAS):c.225G>C (p.Gly75=)Cardiovascular phenotype [RCV005343565]|Costello syndrome [RCV002983034]likely benign11533831533831Human1name
11546795CV254210single nucleotide variantNM_005343.4(HRAS):c.171T>C (p.Asp57=)Costello syndrome [RCV000871401]|Hereditary cancer-predisposing syndrome [RCV002258867]|not specified [RCV000246927]likely benign|uncertain significance11533885533885Human2name
405004725CV2882696single nucleotide variantNM_005343.4(HRAS):c.189G>A (p.Glu63=)Costello syndrome [RCV003514223]likely benign11533867533867Human1name
402488381CV2943811single nucleotide variantNM_005343.4(HRAS):c.135C>T (p.Val45=)Cardiovascular phenotype [RCV004992683]|Costello syndrome [RCV003626915]likely benign11533921533921Human1name
402499794CV2990236single nucleotide variantNM_005343.4(HRAS):c.105T>C (p.Thr35=)Costello syndrome [RCV003628152]likely benign11534218534218Human1name
597717828CV3689505single nucleotide variantNM_005343.4(HRAS):c.213C>T (p.Tyr71=)Cardiovascular phenotype [RCV004991730]|Costello syndrome [RCV005110359]likely benign11533843533843Human1name
12837120CV371490single nucleotide variantNM_005343.4(HRAS):c.234C>T (p.Phe78=)Costello syndrome [RCV002059794]|not provided [RCV000424616]likely benign11533822533822Human1name
12839006CV371492single nucleotide variantNM_005343.4(HRAS):c.150G>A (p.Thr50=)Costello syndrome [RCV002061575]|not provided [RCV000428021]likely benign11533906533906Human1name
12836353CV372231single nucleotide variantNM_005343.4(HRAS):c.228G>A (p.Glu76=)Costello syndrome [RCV002063360]|not provided [RCV000423251]likely benign11533828533828Human1name
12844471CV372462single nucleotide variantNM_005343.4(HRAS):c.162C>T (p.Asp54=)Costello syndrome [RCV003514353]|HRAS-related disorder [RCV003897851]|not specified [RCV000438047]likely benign11533894533894Human1name , trait , alternate_id
597842597CV3775042single nucleotide variantNM_005343.4(HRAS):c.285G>A (p.Gln95=)Costello syndrome [RCV005117868]likely benign11533771533771Human1name
598192735CV3971947single nucleotide variantNM_005343.4(HRAS):c.204G>A (p.Arg68=)Cardiovascular phenotype [RCV005354513]likely benign11533852533852Humanname
12888755CV398226single nucleotide variantNM_005343.4(HRAS):c.219C>T (p.Arg73=)Cardiovascular phenotype [RCV002431368]|Costello syndrome [RCV000471546]|HRAS-related disorder [RCV003899987]|not provided [RCV003392297]|not specified [RCV005239056]likely benign11533837533837Human1name , trait , alternate_id
12882820CV398227single nucleotide variantNM_005343.4(HRAS):c.156G>A (p.Leu52=)Cardiovascular phenotype [RCV004992255]|Costello syndrome [RCV000460380]|not provided [RCV001613309]benign|likely benign11533900533900Human1name
12880796CV398679single nucleotide variantNM_005343.4(HRAS):c.120C>T (p.Tyr40=)Costello syndrome [RCV000456682]|not provided [RCV001310581]likely benign11533936533936Human1name
13488113CV461207single nucleotide variantNM_005343.4(HRAS):c.156G>T (p.Leu52=)Cardiovascular phenotype [RCV003380607]|Costello syndrome [RCV001497959]likely benign11533900533900Human1name
13521868CV487541single nucleotide variantNM_005343.4(HRAS):c.10T>C (p.Tyr4His)not provided [RCV000590817]uncertain significance11534313534313Humanname
13519923CV487566single nucleotide variantNM_005343.4(HRAS):c.222C>T (p.Thr74=)Cardiovascular phenotype [RCV002431742]|Costello syndrome [RCV001082400]|not provided [RCV000586814]benign|likely benign11533834533834Human1name
13520279CV494970single nucleotide variantNM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)Costello syndrome [RCV001322927]|Large congenital melanocytic nevus [RCV002483665]|not specified [RCV000598510]uncertain significance11534312534312Human7name
13605871CV526264single nucleotide variantNM_005343.4(HRAS):c.153C>T (p.Cys51=)Cardiovascular phenotype [RCV002404781]|Costello syndrome [RCV000637311]likely benign11533903533903Human1name
13605869CV526298single nucleotide variantNM_005343.4(HRAS):c.141T>C (p.Asp47=)Cardiovascular phenotype [RCV002388047]|Costello syndrome [RCV000637306]|not specified [RCV001194129]likely benign11533915533915Human1name
13605873CV526306single nucleotide variantNM_005343.4(HRAS):c.102C>T (p.Pro34=)Cardiovascular phenotype [RCV002386026]|Costello syndrome [RCV000637314]|Noonan syndrome and Noonan-related syndrome [RCV001813533]likely benign11534221534221Human1name
8608135CV54465single nucleotide variantNM_005343.4(HRAS):c.249C>T (p.Ala83=)Cardiovascular phenotype [RCV003162337]|Costello syndrome [RCV000531092]|HRAS-related disorder [RCV003964858]|Hereditary cancer-predisposing syndrome [RCV002257382]|not provided [RCV004597734]|not specified [RCV000038455]likely benign11533807533807Human2name , trait , alternate_id
8608136CV54466single nucleotide variantNM_005343.4(HRAS):c.282C>T (p.His94=)Cardiovascular phenotype [RCV002433504]|Costello syndrome [RCV001458613]|HRAS-related disorder [RCV003894865]|not provided [RCV005243107]|not specified [RCV000038456]likely benign11533774533774Human1name , trait , alternate_id
15138651CV687787single nucleotide variantNM_005343.4(HRAS):c.174C>T (p.Thr58=)Cardiovascular phenotype [RCV002409032]|Costello syndrome [RCV000864872]likely benign11533882533882Human1name
15157081CV687788single nucleotide variantNM_005343.4(HRAS):c.102C>G (p.Pro34=)Costello syndrome [RCV001493838]|not provided [RCV000868366]likely benign|conflicting interpretations of pathogenicity|uncertain significance11534221534221Human1name
15130463CV693059single nucleotide variantNM_005343.4(HRAS):c.237G>A (p.Leu79=)Cardiovascular phenotype [RCV002454037]|Costello syndrome [RCV000875822]likely benign11533819533819Human1name
15132061CV712873single nucleotide variantNM_005343.4(HRAS):c.144G>A (p.Gly48=)Costello syndrome [RCV001483338]likely benign11533912533912Human1name
15195861CV752702single nucleotide variantNM_005343.4(HRAS):c.231C>T (p.Gly77=)Costello syndrome [RCV000911535]likely benign11533825533825Human1name
126735089CV1009740single nucleotide variantNM_005343.4(HRAS):c.426C>A (p.Ile142=)Costello syndrome [RCV001324473]likely benign|uncertain significance11533477533477Human1name
126916954CV1047288duplicationNM_005343.4(HRAS):c.108dup (p.Glu37fs)Costello syndrome [RCV001371797]|not provided [RCV005256783]uncertain significance11534214534215Human1name
127282745CV1078337single nucleotide variantNM_005343.4(HRAS):c.483T>C (p.Arg161=)Costello syndrome [RCV001411333]likely benign11532723532723Human1name
127283302CV1078338single nucleotide variantNM_005343.4(HRAS):c.420C>T (p.Pro140=)Costello syndrome [RCV001411688]|not specified [RCV005419122]likely benign11533483533483Human1name
127253537CV1078339single nucleotide variantNM_005343.4(HRAS):c.399C>T (p.Leu133=)Costello syndrome [RCV001400583]likely benign11533504533504Human1name
127262861CV1078340single nucleotide variantNM_005343.4(HRAS):c.390T>G (p.Ala130=)Costello syndrome [RCV001402800]likely benign11533513533513Human1name
127277283CV1078341single nucleotide variantNM_005343.4(HRAS):c.375G>C (p.Val125=)Costello syndrome [RCV001407667]likely benign11533528533528Human1name
127275652CV1100055single nucleotide variantNM_005343.4(HRAS):c.438C>A (p.Ala146=)Costello syndrome [RCV001432469]likely benign11533465533465Human1name
127271403CV1100056single nucleotide variantNM_005343.4(HRAS):c.417C>T (p.Ile139=)Costello syndrome [RCV001430947]likely benign11533486533486Human1name
127277918CV1100057single nucleotide variantNM_005343.4(HRAS):c.414C>A (p.Gly138=)Costello syndrome [RCV001444684]likely benign11533489533489Human1name
127272257CV1100058single nucleotide variantNM_005343.4(HRAS):c.318G>A (p.Ser106=)Cardiovascular phenotype [RCV004995815]|Costello syndrome [RCV001442126]likely benign11533585533585Human1name
127315195CV1121538single nucleotide variantNM_005343.4(HRAS):c.567C>G (p.Ser189=)Costello syndrome [RCV001465161]likely benign11532639532639Human1name
127299309CV1121539single nucleotide variantNM_005343.4(HRAS):c.489C>A (p.Ile163=)Costello syndrome [RCV001453562]likely benign11532717532717Human1name
127305161CV1121540single nucleotide variantNM_005343.4(HRAS):c.396C>T (p.Asp132=)Costello syndrome [RCV001455181]likely benign11533507533507Human1name
127324653CV1121541single nucleotide variantNM_005343.4(HRAS):c.393G>A (p.Gln131=)Costello syndrome [RCV001468249]likely benign11533510533510Human1name
127293456CV1121542single nucleotide variantNM_005343.4(HRAS):c.366A>G (p.Ala122=)Costello syndrome [RCV001459233]likely benign11533537533537Human1name
127326639CV1142405single nucleotide variantNM_005343.4(HRAS):c.465C>T (p.Ala155=)Costello syndrome [RCV001486095]likely benign11532741532741Human1name
127316498CV1142406single nucleotide variantNM_005343.4(HRAS):c.435G>C (p.Ser145=)Costello syndrome [RCV001503034]likely benign11533468533468Human1name
127302193CV1142407single nucleotide variantNM_005343.4(HRAS):c.402C>G (p.Ala134=)Costello syndrome [RCV001499031]likely benign11533501533501Human1name
127332035CV1142408single nucleotide variantNM_005343.4(HRAS):c.360G>C (p.Leu120=)Cardiovascular phenotype [RCV002456867]|Costello syndrome [RCV001489223]likely benign11533543533543Human1name
127327297CV1142409single nucleotide variantNM_005343.4(HRAS):c.345G>A (p.Gly115=)Costello syndrome [RCV001506532]likely benign11533558533558Human1name
150428518CV1187758single nucleotide variantNM_176795.5(HRAS):c.501G>A (p.Pro167=)not provided [RCV001562363]likely benign11533308533308Humanname
150502400CV1254518single nucleotide variantNM_176795.5(HRAS):c.498C>G (p.Pro166=)not provided [RCV001677220]likely benign11533311533311Humanname
151845901CV1341917single nucleotide variantNM_005343.4(HRAS):c.44G>C (p.Gly15Ala)Costello syndrome [RCV001922109]uncertain significance11534279534279Human1name
151853779CV1376363single nucleotide variantNM_005343.4(HRAS):c.88G>A (p.Asp30Asn)Costello syndrome [RCV001996287]uncertain significance11534235534235Human1name
151713422CV1384111single nucleotide variantNM_005343.4(HRAS):c.99C>A (p.Asp33Glu)Costello syndrome [RCV001908473]uncertain significance11534224534224Human1name
151823285CV1385471single nucleotide variantNM_005343.4(HRAS):c.375G>A (p.Val125=)Costello syndrome [RCV001975953]likely benign|uncertain significance11533528533528Human1name
151769521CV1410600single nucleotide variantNM_005343.4(HRAS):c.543C>T (p.Cys181=)Costello syndrome [RCV001988101]likely benign|uncertain significance11532663532663Human1name
151800661CV1474888single nucleotide variantNM_005343.4(HRAS):c.414C>T (p.Gly138=)Costello syndrome [RCV001952892]likely benign|uncertain significance11533489533489Human1name
152086907CV1531848single nucleotide variantNM_005343.4(HRAS):c.540C>T (p.Gly180=)Costello syndrome [RCV002077104]likely benign11532666532666Human1name
152170961CV1536771single nucleotide variantNM_005343.4(HRAS):c.342G>C (p.Val114=)Costello syndrome [RCV002183336]likely benign11533561533561Human1name
152145122CV1543231single nucleotide variantNM_005343.4(HRAS):c.447G>A (p.Arg149=)Costello syndrome [RCV002178605]likely benign11533456533456Human1name
152094078CV1561416single nucleotide variantNM_005343.4(HRAS):c.324C>T (p.Asp108=)Costello syndrome [RCV002094596]likely benign11533579533579Human1name
152175999CV1562141single nucleotide variantNM_005343.4(HRAS):c.564C>G (p.Leu188=)Costello syndrome [RCV002164139]likely benign11532642532642Human1name
152088874CV1563001single nucleotide variantNM_005343.4(HRAS):c.304C>A (p.Arg102=)Costello syndrome [RCV002113793]likely benign11533599533599Human1name
152057659CV1567358single nucleotide variantNM_005343.4(HRAS):c.315C>T (p.Asp105=)Costello syndrome [RCV002146422]|not specified [RCV005239293]likely benign11533588533588Human1name
152148758CV1569121single nucleotide variantNM_005343.4(HRAS):c.462T>C (p.Asp154=)Cardiovascular phenotype [RCV002337232]|Costello syndrome [RCV002220462]likely benign11532744532744Human1name
152059484CV1597646single nucleotide variantNM_005343.4(HRAS):c.480G>C (p.Val160=)Costello syndrome [RCV002128170]likely benign11532726532726Human1name
152137719CV1603782single nucleotide variantNM_005343.4(HRAS):c.495G>A (p.Gln165=)Costello syndrome [RCV002218948]likely benign11532711532711Human1name
152156235CV1615731single nucleotide variantNM_005343.4(HRAS):c.408C>T (p.Ser136=)Costello syndrome [RCV002158888]likely benign11533495533495Human1name
152041040CV1627807single nucleotide variantNM_005343.4(HRAS):c.459G>A (p.Glu153=)Costello syndrome [RCV002188265]likely benign11532747532747Human1name
152104703CV1658732single nucleotide variantNM_005343.4(HRAS):c.555G>A (p.Lys185=)Costello syndrome [RCV002152245]likely benign11532651532651Human1name
152122799CV1664282single nucleotide variantNM_005343.4(HRAS):c.300C>T (p.Ile100=)Cardiovascular phenotype [RCV002434578]|Costello syndrome [RCV002154476]likely benign11533603533603Human1name
155643741CV1709537deletionNM_005343.4(HRAS):c.146del (p.Glu49fs)Prostate cancer, hereditary, 1 [RCV002292420]uncertain significance11533910533910Human1name
9689988CV175217single nucleotide variantNM_005343.4(HRAS):c.31G>A (p.Ala11Thr)Cardiovascular phenotype [RCV004019863]|Costello syndrome [RCV000694918]|not specified [RCV000155632]uncertain significance11534292534292Human1name
9831513CV179419single nucleotide variantNM_005343.4(HRAS):c.38G>T (p.Gly13Val)Costello syndrome [RCV000590121]|KA-like vemurafenib-induced squamous lesions [RCV001849323]|Large congenital melanocytic nevus [RCV004562310]|Linear nevus sebaceous syndrome [RCV004767097]|Lip and oral cavity carcinoma [RCV001255688]|not provided [RCV000157914]pathogenic|likely pathogenic11534285534285Human7name
156363736CV1881555single nucleotide variantNM_005343.4(HRAS):c.330C>A (p.Pro110=)Costello syndrome [RCV003065809]likely benign11533573533573Human1name
156332175CV1884536single nucleotide variantNM_005343.4(HRAS):c.438C>T (p.Ala146=)Costello syndrome [RCV003089864]likely benign11533465533465Human1name
156441481CV1944138single nucleotide variantNM_005343.4(HRAS):c.55C>A (p.Leu19Met)Costello syndrome [RCV003111807]uncertain significance11534268534268Human1name
156122682CV1952810single nucleotide variantNM_005343.4(HRAS):c.531T>C (p.Ser177=)Costello syndrome [RCV002571927]likely benign11532675532675Human1name
156116773CV1972862single nucleotide variantNM_005343.4(HRAS):c.567C>T (p.Ser189=)Costello syndrome [RCV002592978]likely benign11532639532639Human1name
156049046CV2006639single nucleotide variantNM_005343.4(HRAS):c.402C>T (p.Ala134=)Costello syndrome [RCV002659302]likely benign11533501533501Human1name
155947378CV2036019single nucleotide variantNM_005343.4(HRAS):c.534C>T (p.Gly178=)Costello syndrome [RCV002775568]likely benign11532672532672Human1name
156026948CV2078177single nucleotide variantNM_005343.4(HRAS):c.540C>A (p.Gly180=)Costello syndrome [RCV002866882]likely benign11532666532666Human1name
156194757CV2175443single nucleotide variantNM_005343.4(HRAS):c.44G>T (p.Gly15Val)Costello syndrome [RCV003057955]uncertain significance11534279534279Human1name
156396931CV2178287single nucleotide variantNM_005343.4(HRAS):c.351G>A (p.Lys117=)Costello syndrome [RCV003051932]likely benign11533552533552Human1name
11096307CV230220single nucleotide variantNM_005343.4(HRAS):c.468C>T (p.Phe156=)Cardiovascular phenotype [RCV005338112]|Costello syndrome [RCV002517470]|not specified [RCV000223407]likely benign11532738532738Human1name
11349413CV241155single nucleotide variantNM_005343.4(HRAS):c.339G>A (p.Leu113=)Costello syndrome [RCV001490462]likely benign11533564533564Human1name
11543251CV254209single nucleotide variantNM_005343.4(HRAS):c.369C>T (p.Arg123=)Cardiovascular phenotype [RCV002347960]|Costello syndrome [RCV001079542]|Hereditary cancer-predisposing syndrome [RCV002257620]|Noonan syndrome and Noonan-related syndrome [RCV001813437]|RASopathy [RCV000520797]|not provided [RCV000588992]|not specified [RCV000242213]benign|likely benign11533534533534Human3name
11636492CV264487single nucleotide variantNM_005343.4(HRAS):c.64C>T (p.Gln22Ter)not provided [RCV000269895]likely benign|uncertain significance11534259534259Humanname
401766034CV2732135single nucleotide variantNM_005343.4(HRAS):c.432C>T (p.Thr144=)Cardiovascular phenotype [RCV003301684]likely benign11533471533471Humanname
8563222CV27639single nucleotide variantNM_005343.4(HRAS):c.35G>T (p.Gly12Val)Cardiovascular phenotype [RCV004018622]|Costello syndrome [RCV000013432]|Epidermal nevus [RCV000032850]|HRAS-related disorder [RCV003415692]|Malignant tumor of urinary bladder [RCV000013431]|Myopathy, congenital, with excess of muscle spindles [RCV000013433]|notpathogenic|likely pathogenic|other11534288534288Human7name , trait , alternate_id
8563224CV27641single nucleotide variantNM_005343.4(HRAS):c.34G>A (p.Gly12Ser)Cardiovascular phenotype [RCV002453256]|Costello syndrome [RCV000013435]|Epidermal nevus [RCV003450636]|Epidermal nevus with urothelial cancer, somatic [RCV000022796]|HRAS-related disorder [RCV003398496]|Large congenital melanocytic nevus [RCV004795404]|Lip and pathogenic|likely pathogenic|other11534289534289Human22name , trait , alternate_id
8563225CV27642single nucleotide variantNM_005343.4(HRAS):c.35G>C (p.Gly12Ala)Costello syndrome [RCV000013437]|Inborn genetic diseases [RCV000623953]|Large congenital melanocytic nevus [RCV000762848]|Noonan syndrome and Noonan-related syndrome [RCV001813186]|Rhabdomyosarcoma [RCV001257536]|not provided [RCV000207503]pathogenic|likely pathogenic11534288534288Human17name
8563226CV27643single nucleotide variantNM_005343.4(HRAS):c.38G>A (p.Gly13Asp)Costello syndrome [RCV000013438]|HRAS-related disorder [RCV003390677]|Large congenital melanocytic nevus [RCV002476960]|Non-immune hydrops fetalis [RCV001376018]|Noonan syndrome and Noonan-related syndrome [RCV001813187]|RASopathy [RCV000781469]|not provided [RCpathogenic|likely pathogenic|not provided11534285534285Human17name , trait , alternate_id
8599073CV27645single nucleotide variantNM_005343.4(HRAS):c.37G>T (p.Gly13Cys)Costello syndrome [RCV000013440]|HRAS-related disorder [RCV003421918]|Large congenital melanocytic nevus [RCV000762847]|Linear nevus sebaceous syndrome [RCV004767004]|Noonan syndrome [RCV000678903]|Noonan syndrome and Noonan-related syndrome [RCV001813188]|RASoppathogenic|likely pathogenic11534286534286Human16name , trait , alternate_id
8563229CV27648single nucleotide variantNM_005343.4(HRAS):c.64C>A (p.Gln22Lys)Costello syndrome [RCV000143898]|Myopathy, congenital, with excess of muscle spindles [RCV000013443]|not provided [RCV000157915]pathogenic|likely pathogenic11534259534259Human2name
8563231CV27651single nucleotide variantNM_005343.4(HRAS):c.35G>A (p.Gly12Asp)Costello syndrome [RCV000038460]|Costello syndrome, severe [RCV000013446]|HRAS-related disorder [RCV004739303]|Lip and oral cavity carcinoma [RCV001255681]|Nevus sebaceous [RCV000029210]|Non-immune hydrops fetalis [RCV001375956]|Noonan syndrome and Noonan-relatepathogenic|likely pathogenic|other11534288534288Human7name , trait , alternate_id
8569126CV27652single nucleotide variantNM_005343.4(HRAS):c.34G>T (p.Gly12Cys)Costello syndrome [RCV000013447]|Epidermal nevus [RCV000032851]|Large congenital melanocytic nevus [RCV000762849]|Nevus sebaceous [RCV000029211]|RASopathy [RCV000149829]|not provided [RCV000212495]pathogenic|likely pathogenic|other11534289534289Human10name
401904006CV2806382single nucleotide variantNM_005343.4(HRAS):c.483T>G (p.Arg161=)not provided [RCV003394672]likely benign11532723532723Humanname
405007991CV2863699single nucleotide variantNM_005343.4(HRAS):c.59C>T (p.Thr20Ile)Costello syndrome [RCV003514667]uncertain significance11534264534264Human1name
405003483CV2888703single nucleotide variantNM_005343.4(HRAS):c.342G>A (p.Val114=)Costello syndrome [RCV003514117]likely benign11533561533561Human1name
402499377CV2983125single nucleotide variantNM_005343.4(HRAS):c.91G>C (p.Glu31Gln)Costello syndrome [RCV003628135]uncertain significance11534232534232Human1name
402490931CV3049003single nucleotide variantNM_005343.4(HRAS):c.429G>A (p.Glu143=)Costello syndrome [RCV003627206]likely benign11533474533474Human1name
402486229CV3050208single nucleotide variantNM_005343.4(HRAS):c.474G>C (p.Thr158=)Costello syndrome [RCV003626581]likely benign11532732532732Human1name
402499551CV3077857single nucleotide variantNM_005343.4(HRAS):c.306G>A (p.Arg102=)Costello syndrome [RCV003628098]likely benign11533597533597Human1name
405010035CV3127988single nucleotide variantNM_005343.4(HRAS):c.74A>G (p.Gln25Arg)Costello syndrome [RCV003828868]uncertain significance11534249534249Human1name
405031586CV3130255single nucleotide variantNM_005343.4(HRAS):c.522T>C (p.Pro174=)Costello syndrome [RCV003830662]likely benign11532684532684Human1name
405145049CV3141479single nucleotide variantNM_005343.4(HRAS):c.445C>A (p.Arg149=)Costello syndrome [RCV003839596]uncertain significance11533458533458Human1name
405292767CV3193128single nucleotide variantNM_005343.4(HRAS):c.306G>C (p.Arg102=)HRAS-related disorder [RCV003964692]likely benign11533597533597Humanname , trait , alternate_id
407528317CV3433920single nucleotide variantNM_005343.4(HRAS):c.387G>A (p.Gln129=)Cardiovascular phenotype [RCV004633109]likely benign11533516533516Humanname
12835378CV362840single nucleotide variantNM_005343.4(HRAS):c.34G>C (p.Gly12Arg)Costello syndrome [RCV002230756]pathogenic|likely pathogenic11534289534289Human1name
12834339CV363202single nucleotide variantNM_005343.4(HRAS):c.37G>A (p.Gly13Ser)Costello syndrome [RCV002524694]|Vascular Tumors Including Pyogenic Granuloma [RCV000662270]likely pathogenic11534286534286Human1name
12835267CV363322single nucleotide variantNM_005343.4(HRAS):c.38G>C (p.Gly13Ala)Acute myeloid leukemia [RCV000424186]|B-cell chronic lymphocytic leukemia [RCV000426316]|Gastric adenocarcinoma [RCV000421384]|Hepatocellular carcinoma [RCV000445345]|Lung adenocarcinoma [RCV000434457]|Malignant neoplasm of body of uterus [RCV000434248]|Multiple myeloma [RCV000442365]|Neoplasm of thlikely pathogenic11534285534285Human8name
12842336CV371489single nucleotide variantNM_005343.4(HRAS):c.426C>T (p.Ile142=)Cardiovascular phenotype [RCV002328927]|Costello syndrome [RCV002524810]|not provided [RCV000434218]likely benign11533477533477Human1name
12836329CV372230single nucleotide variantNM_176795.5(HRAS):c.480C>T (p.Ser160=)not provided [RCV000423204]likely benign11533329533329Humanname
598232052CV3893188single nucleotide variantNM_005343.4(HRAS):c.68T>G (p.Leu23Arg)Costello syndrome [RCV005255547]likely pathogenic11534255534255Human1name
12888890CV398222single nucleotide variantNM_005343.4(HRAS):c.537C>T (p.Pro179=)Cardiovascular phenotype [RCV004992254]|Costello syndrome [RCV000471783]|not provided [RCV001576338]likely benign11532669532669Human1name
12884980CV398316single nucleotide variantNM_005343.4(HRAS):c.534C>G (p.Gly178=)Cardiovascular phenotype [RCV002350036]|Costello syndrome [RCV000464492]|HRAS-related disorder [RCV003970343]|not provided [RCV001575546]|not specified [RCV001420905]likely benign11532672532672Human1name , trait , alternate_id
12883067CV398318single nucleotide variantNM_005343.4(HRAS):c.516C>T (p.Asn172=)Costello syndrome [RCV000460869]|not specified [RCV000610082]likely benign11532690532690Human1name
12885599CV398657single nucleotide variantNM_005343.4(HRAS):c.519T>G (p.Pro173=)Costello syndrome [RCV000465686]likely benign11532687532687Human1name
12883887CV398766single nucleotide variantNM_005343.4(HRAS):c.312G>A (p.Lys104=)Cardiovascular phenotype [RCV004992256]|Costello syndrome [RCV000462463]|not provided [RCV001613310]likely benign11533591533591Human1name
8569127CV44227single nucleotide variantNM_005343.4(HRAS):c.37G>C (p.Gly13Arg)Costello syndrome [RCV001781319]|Epidermal nevus [RCV000032852]|Epidermolytic nevus [RCV003458340]|HRAS-related disorder [RCV004739310]|Linear nevus sebaceous syndrome [RCV000029213]|Lip and oral cavity carcinoma [RCV001255682]|NEVUS SPILUS, SOMATIC [RCV00017300pathogenic|likely pathogenic|other11534286534286Human10name , trait , alternate_id
13501393CV461200single nucleotide variantNM_005343.4(HRAS):c.474G>A (p.Thr158=)Cardiovascular phenotype [RCV005338231]|Costello syndrome [RCV001463916]likely benign11532732532732Human1name
13495553CV461203single nucleotide variantNM_005343.4(HRAS):c.435G>A (p.Ser145=)Cardiovascular phenotype [RCV004023889]|Costello syndrome [RCV000537215]likely benign11533468533468Human1name
13473171CV462038single nucleotide variantNM_005343.4(HRAS):c.441G>A (p.Lys147=)Cardiovascular phenotype [RCV002330854]|Costello syndrome [RCV001494759]|not provided [RCV004707323]likely benign11533462533462Human1name
11346165CV48910single nucleotide variantNM_005343.4(HRAS):c.309G>A (p.Val103=)Costello syndrome [RCV000227548]|HRAS-related disorder [RCV003894842]|Noonan syndrome and Noonan-related syndrome [RCV001813235]|RASopathy [RCV000519223]|not provided [RCV001711138]benign|likely benign11533594533594Human2name , trait , alternate_id
8608138CV48911single nucleotide variantNM_005343.4(HRAS):c.357C>T (p.Asp119=)Cardiovascular phenotype [RCV002453280]|Costello syndrome [RCV000227939]|HRAS-related disorder [RCV003924885]|Hereditary cancer-predisposing syndrome [RCV002257371]|Large congenital melanocytic nevus [RCV002477043]|Noonan syndrome and Noonan-related syndrome [RCbenign|likely benign11533546533546Human16name , trait , alternate_id
8608141CV48912single nucleotide variantNM_005343.4(HRAS):c.378A>G (p.Glu126=)Cardiovascular phenotype [RCV002345262]|Costello syndrome [RCV001081660]|Noonan syndrome and Noonan-related syndrome [RCV001813237]|RASopathy [RCV000519017]|not provided [RCV000588072]|not specified [RCV000038462]benign|likely benign11533525533525Human2name
8608144CV48916single nucleotide variantNM_005343.4(HRAS):c.477G>A (p.Leu159=)Cardiovascular phenotype [RCV002336104]|Costello syndrome [RCV000234776]|Hereditary cancer-predisposing syndrome [RCV002257372]|Noonan syndrome and Noonan-related syndrome [RCV001813238]|RASopathy [RCV000522477]|not provided [RCV001538584]|not specified [RCV000038465]benign|likely benign|conflicting interpretations of pathogenicity11532729532729Human3name
13605870CV526483single nucleotide variantNM_005343.4(HRAS):c.411C>T (p.Tyr137=)Costello syndrome [RCV000637307]likely benign11533492533492Human1name
13703160CV539147single nucleotide variantNM_005343.4(HRAS):c.44G>A (p.Gly15Asp)Vascular Tumors Including Pyogenic Granuloma [RCV000662271]uncertain significance11534279534279Humanname
8608137CV54467single nucleotide variantNM_005343.4(HRAS):c.330C>T (p.Pro110=)Cardiovascular phenotype [RCV002321512]|Costello syndrome [RCV000467667]|HRAS-related disorder [RCV004739326]|Large congenital melanocytic nevus [RCV002490523]|Noonan syndrome and Noonan-related syndrome [RCV001813351]|not specified [RCV000038457]benign|likely benign|conflicting interpretations of pathogenicity11533573533573Human14name , trait , alternate_id
8608139CV54468single nucleotide variantNM_005343.4(HRAS):c.358C>T (p.Leu120=)Cardiovascular phenotype [RCV003362675]|Costello syndrome [RCV000457956]|not specified [RCV000038459]likely benign11533545533545Human1name
8608140CV54469single nucleotide variantNM_005343.4(HRAS):c.363T>C (p.Ala121=)Cardiovascular phenotype [RCV004018873]|Costello syndrome [RCV000560800]|Noonan syndrome and Noonan-related syndrome [RCV001813352]|not provided [RCV001659973]|not specified [RCV000038461]benign|likely benign11533540533540Human1name
8608145CV54472single nucleotide variantNM_005343.4(HRAS):c.510G>A (p.Lys170=)Cardiovascular phenotype [RCV003162338]|Costello syndrome [RCV000473658]|RASopathy [RCV000520548]|not specified [RCV000038466]benign|likely benign|conflicting interpretations of pathogenicity11532696532696Human2name
14712555CV640157single nucleotide variantNM_005343.4(HRAS):c.41T>G (p.Val14Gly)Costello syndrome [RCV000810329]uncertain significance11534282534282Human1name
15194390CV701802single nucleotide variantNM_005343.4(HRAS):c.492G>A (p.Arg164=)Costello syndrome [RCV000955635]|not specified [RCV005236479]likely benign11532714532714Human1name
15200610CV768485single nucleotide variantNM_005343.4(HRAS):c.423C>T (p.Tyr141=)Cardiovascular phenotype [RCV004629387]|Costello syndrome [RCV001400667]likely benign11533480533480Human1name
38485103CV926275single nucleotide variantNM_005343.4(HRAS):c.97G>A (p.Asp33Asn)Costello syndrome [RCV001219408]uncertain significance11534226534226Human1name
126728028CV1009744single nucleotide variantNM_005343.4(HRAS):c.236T>A (p.Leu79Gln)Costello syndrome [RCV001312421]uncertain significance11533820533820Human1name
126768148CV1009745single nucleotide variantNM_005343.4(HRAS):c.203G>T (p.Arg68Leu)Costello syndrome [RCV001321198]uncertain significance11533853533853Human1name
126737231CV1020875single nucleotide variantNM_005343.4(HRAS):c.134T>A (p.Val45Asp)Cardiovascular phenotype [RCV003169563]|Costello syndrome [RCV001335259]uncertain significance11533922533922Human1name
126774747CV1030305single nucleotide variantNM_005343.4(HRAS):c.260C>T (p.Thr87Ile)Costello syndrome [RCV001347584]uncertain significance11533796533796Human1name
126913668CV1047286single nucleotide variantNM_005343.4(HRAS):c.211T>C (p.Tyr71His)Costello syndrome [RCV001370190]uncertain significance11533845533845Human1name
126917823CV1047287single nucleotide variantNM_005343.4(HRAS):c.202C>G (p.Arg68Gly)Cardiovascular phenotype [RCV002420839]|Costello syndrome [RCV001372298]uncertain significance11533854533854Human1name
126916897CV1047289single nucleotide variantNM_005343.4(HRAS):c.101C>T (p.Pro34Leu)Costello syndrome [RCV001360851]uncertain significance11534222534222Human1name
151352139CV1325102single nucleotide variantNM_005343.4(HRAS):c.175G>T (p.Ala59Ser)Costello syndrome [RCV002541490]|Noonan syndrome and Noonan-related syndrome [RCV001813657]uncertain significance11533881533881Human1name
151714239CV1330556single nucleotide variantNM_005343.4(HRAS):c.278T>C (p.Ile93Thr)Parathyroid gland adenoma [RCV001843332]uncertain significance11533778533778Human4name
151890890CV1346807single nucleotide variantNM_005343.4(HRAS):c.145G>C (p.Glu49Gln)Costello syndrome [RCV002038934]uncertain significance11533911533911Human1name
151862952CV1365172single nucleotide variantNM_005343.4(HRAS):c.136A>G (p.Ile46Val)Costello syndrome [RCV002017989]|not provided [RCV003332372]uncertain significance11533920533920Human1name
151812531CV1376890single nucleotide variantNM_005343.4(HRAS):c.223G>A (p.Gly75Arg)Costello syndrome [RCV001900092]uncertain significance11533833533833Human1name
151836019CV1382991single nucleotide variantNM_005343.4(HRAS):c.285G>C (p.Gln95His)Costello syndrome [RCV001935564]uncertain significance11533771533771Human1name
151799677CV1396584deletionNM_005343.4(HRAS):c.445del (p.Arg149fs)Costello syndrome [RCV001917597]uncertain significance11533458533458Human1name
151874502CV1408420single nucleotide variantNM_005343.4(HRAS):c.202C>T (p.Arg68Trp)Costello syndrome [RCV001906898]|not provided [RCV003235615]likely pathogenic|uncertain significance11533854533854Human1name
151795093CV1435603single nucleotide variantNM_005343.4(HRAS):c.292G>A (p.Glu98Lys)Costello syndrome [RCV001931785]uncertain significance11533611533611Human1name
151889144CV1509500single nucleotide variantNM_005343.4(HRAS):c.107T>C (p.Ile36Thr)Costello syndrome [RCV001888117]uncertain significance11534216534216Human1name
151861255CV1511180single nucleotide variantNM_005343.4(HRAS):c.127C>T (p.Gln43Ter)Costello syndrome [RCV001959252]uncertain significance11533929533929Human1name
151865163CV1511634single nucleotide variantNM_005343.4(HRAS):c.103A>G (p.Thr35Ala)Costello syndrome [RCV001997641]uncertain significance11534220534220Human1name
151757455CV1514193single nucleotide variantNM_005343.4(HRAS):c.115T>A (p.Ser39Thr)Costello syndrome [RCV001948765]uncertain significance11533941533941Human1name
152122457CV1554962single nucleotide variantNM_005343.4(HRAS):c.284A>G (p.Gln95Arg)Costello syndrome [RCV002198241]likely benign11533772533772Human1name
153002530CV1685328single nucleotide variantNM_005343.4(HRAS):c.221C>T (p.Thr74Ile)Costello syndrome [RCV003774794]|Hereditary cancer-predisposing syndrome [RCV002259278]uncertain significance11533835533835Human2name
9684519CV170209single nucleotide variantNM_005343.4(HRAS):c.182A>G (p.Gln61Arg)Large congenital melanocytic nevus [RCV004796045]|Linear nevus sebaceous syndrome [RCV000148033]|Noonan syndrome and Noonan-related syndrome [RCV001813393]|Salivary gland neoplasm [RCV001844808]|Vascular Tumors Including Pyogenic Granuloma [RCV000662268]|not provided [RCV000157918]pathogenic|likely pathogenic|uncertain significance|not provided11533874533874Human16name
155645940CV1709298single nucleotide variantNM_005343.4(HRAS):c.262A>T (p.Lys88Ter)not provided [RCV002292174]uncertain significance11533794533794Humanname
155643743CV1709539single nucleotide variantNM_005343.4(HRAS):c.170A>C (p.Asp57Ala)Prostate cancer, hereditary, 1 [RCV002292422]uncertain significance11533886533886Human1name
155643745CV1709541single nucleotide variantNM_005343.4(HRAS):c.199A>T (p.Met67Leu)Prostate cancer, hereditary, 1 [RCV002292424]uncertain significance11533857533857Human1name
9832736CV179417single nucleotide variantNM_005343.4(HRAS):c.203G>A (p.Arg68Gln)Costello syndrome [RCV000557317]|not provided [RCV004696860]|not specified [RCV002271424]likely pathogenic|uncertain significance11533853533853Human1name
401722611CV1867353single nucleotide variantNM_005343.4(HRAS):c.176C>G (p.Ala59Gly)RASopathy [RCV003238902]pathogenic11533880533880Human1name
155958320CV1873513single nucleotide variantNM_005343.4(HRAS):c.194G>A (p.Ser65Asn)Costello syndrome [RCV003074548]uncertain significance11533862533862Human1name
156145308CV1895080single nucleotide variantNM_005343.4(HRAS):c.178G>C (p.Gly60Arg)Costello syndrome [RCV003082358]uncertain significance11533878533878Human1name
156197279CV1912390single nucleotide variantNM_005343.4(HRAS):c.230G>A (p.Gly77Asp)Costello syndrome [RCV002595577]uncertain significance11533826533826Human1name
156439209CV1944075single nucleotide variantNM_005343.4(HRAS):c.220A>G (p.Thr74Ala)Costello syndrome [RCV003109166]uncertain significance11533836533836Human1name
156115691CV1952324single nucleotide variantNM_005343.4(HRAS):c.250A>G (p.Ile84Val)Costello syndrome [RCV002571664]uncertain significance11533806533806Human1name
156070788CV2018541single nucleotide variantNM_005343.4(HRAS):c.189G>C (p.Glu63Asp)Costello syndrome [RCV002705677]uncertain significance11533867533867Human1name
156207568CV2040325single nucleotide variantNM_005343.4(HRAS):c.122G>C (p.Arg41Pro)Costello syndrome [RCV002790114]uncertain significance11533934533934Human1name
156155655CV2049286single nucleotide variantNM_005343.4(HRAS):c.253A>G (p.Asn85Asp)Costello syndrome [RCV002801443]uncertain significance11533803533803Human1name
156052197CV2064605single nucleotide variantNM_005343.4(HRAS):c.262A>G (p.Lys88Glu)Costello syndrome [RCV002846474]uncertain significance11533794533794Human1name
156259739CV2100536duplicationNM_005343.4(HRAS):c.191dup (p.Tyr64Ter)Costello syndrome [RCV002877228]uncertain significance11533864533865Human1name
156343607CV2124097single nucleotide variantNM_005343.4(HRAS):c.215T>C (p.Met72Thr)Costello syndrome [RCV002939038]uncertain significance11533841533841Human1name
156280288CV2137530single nucleotide variantNM_005343.4(HRAS):c.247G>A (p.Ala83Thr)Costello syndrome [RCV003009575]uncertain significance11533809533809Human1name
156152395CV2175438single nucleotide variantNM_005343.4(HRAS):c.151T>C (p.Cys51Arg)Costello syndrome [RCV003040416]uncertain significance11533905533905Human1name
156285008CV2187093single nucleotide variantNM_005343.4(HRAS):c.218G>A (p.Arg73His)Costello syndrome [RCV003044909]uncertain significance11533838533838Human1name
8563223CV27640single nucleotide variantNM_005343.4(HRAS):c.181C>A (p.Gln61Lys)Epidermal nevus [RCV004562206]|Lip and oral cavity carcinoma [RCV001255683]|Noonan syndrome 3 [RCV000587258]|Spermatocytic seminoma [RCV000022795]|Thyroid cancer, nonmedullary, 2 [RCV000013434]|not provided [RCV000681435]pathogenic|likely pathogenic|other11533875533875Human7name
8563228CV27647single nucleotide variantNM_005343.4(HRAS):c.187G>A (p.Glu63Lys)Costello syndrome [RCV002272015]|Myopathy, congenital, with excess of muscle spindles [RCV000013442]|not provided [RCV000485616]pathogenic11533869533869Human2name
8599074CV27649single nucleotide variantNM_005343.4(HRAS):c.173C>T (p.Thr58Ile)Costello syndrome [RCV000013444]|HRAS-related disorder [RCV004724738]|RASopathy [RCV005252034]|not provided [RCV003221783]pathogenic11533883533883Human2name , trait , alternate_id
405010972CV2904416single nucleotide variantNM_005343.4(HRAS):c.131T>C (p.Val44Ala)Costello syndrome [RCV003514885]uncertain significance11533925533925Human1name
405012219CV2913760single nucleotide variantNM_005343.4(HRAS):c.146A>G (p.Glu49Gly)Costello syndrome [RCV003515072]uncertain significance11533910533910Human1name
405020319CV2925424single nucleotide variantNM_005343.4(HRAS):c.122G>A (p.Arg41Gln)Costello syndrome [RCV003515838]uncertain significance11533934533934Human1name
405021229CV2926265single nucleotide variantNM_005343.4(HRAS):c.129G>C (p.Gln43His)Costello syndrome [RCV003515930]uncertain significance11533927533927Human1name
405021490CV2932307single nucleotide variantNM_005343.4(HRAS):c.158T>G (p.Leu53Trp)Costello syndrome [RCV003515956]uncertain significance11533898533898Human1name
402497335CV2976712deletionNM_005343.4(HRAS):c.373del (p.Val125fs)Costello syndrome [RCV003627893]uncertain significance11533530533530Human1name
402501147CV2996237single nucleotide variantNM_005343.4(HRAS):c.158T>A (p.Leu53Ter)Costello syndrome [RCV003628322]uncertain significance11533898533898Human1name
402501751CV3000479single nucleotide variantNM_005343.4(HRAS):c.201G>A (p.Met67Ile)Costello syndrome [RCV003628373]uncertain significance11533855533855Human1name
402503186CV3013202single nucleotide variantNM_005343.4(HRAS):c.197C>T (p.Ala66Val)Costello syndrome [RCV003628532]uncertain significance11533859533859Human1name
402484831CV3041355single nucleotide variantNM_005343.4(HRAS):c.295C>T (p.Gln99Ter)Costello syndrome [RCV003626439]uncertain significance11533608533608Human1name
402486375CV3043658single nucleotide variantNM_005343.4(HRAS):c.221C>G (p.Thr74Ser)Costello syndrome [RCV003626595]uncertain significance11533835533835Human1name
405029623CV3129917single nucleotide variantNM_005343.4(HRAS):c.217C>T (p.Arg73Cys)Costello syndrome [RCV003830515]uncertain significance11533839533839Human1name
407424973CV3411019duplicationNM_005343.4(HRAS):c.445dup (p.Arg149fs)not provided [RCV004588709]uncertain significance11533457533458Humanname
408388147CV3520661single nucleotide variantNM_005343.4(HRAS):c.195C>G (p.Ser65Arg)not provided [RCV004761494]uncertain significance11533861533861Humanname
596927729CV3532675single nucleotide variantNM_005343.4(HRAS):c.104C>T (p.Thr35Ile)not provided [RCV004778773]uncertain significance11534219534219Humanname
12834697CV362912single nucleotide variantNM_005343.4(HRAS):c.182A>T (p.Gln61Leu)Costello syndrome [RCV001372584]|KA-like vemurafenib-induced squamous lesions [RCV001849368]|Lip and oral cavity carcinoma [RCV001255684]pathogenic|likely pathogenic|uncertain significance11533874533874Human2name
12834935CV363197single nucleotide variantNM_005343.4(HRAS):c.183G>T (p.Gln61His)Noonan syndrome 3 [RCV000589258]likely pathogenic11533873533873Human1name
12839001CV363198single nucleotide variantNM_005343.4(HRAS):c.183G>C (p.Gln61His)Neoplasm [RCV000428014]likely pathogenic11533873533873Human1name
12834311CV363201single nucleotide variantNM_005343.4(HRAS):c.182A>C (p.Gln61Pro)Acute myeloid leukemia [RCV000428741]|B-cell chronic lymphocytic leukemia [RCV000424105]|Gastric adenocarcinoma [RCV000435489]|Hepatocellular carcinoma [RCV000440764]|Lung adenocarcinoma [RCV000441832]|Malignant melanoma of skin [RCV000430658]|Malignant neoplasm of body of uterus [RCV000430030]|Multlikely pathogenic11533874533874Human13name
12834908CV363323single nucleotide variantNM_005343.4(HRAS):c.181C>G (p.Gln61Glu)Acute myeloid leukemia [RCV000435578]|B-cell chronic lymphocytic leukemia [RCV000420757]|Gastric adenocarcinoma [RCV000431015]|Hepatocellular carcinoma [RCV000427302]|Lung adenocarcinoma [RCV000444619]|Malignant melanoma of skin [RCV000422470]|Malignant neoplasm of body of uterus [RCV000442518]|Multlikely pathogenic11533875533875Human12name
12850259CV374144single nucleotide variantNM_005343.4(HRAS):c.179G>T (p.Gly60Val)Costello syndrome [RCV005090865]|Large congenital melanocytic nevus [RCV002060067]|not provided [RCV000443979]pathogenic11533877533877Human7name
597966514CV3751597single nucleotide variantNM_005343.4(HRAS):c.139G>A (p.Asp47Asn)Costello syndrome [RCV005082967]uncertain significance11533917533917Human1name
597904449CV3839077single nucleotide variantNM_005343.4(HRAS):c.149C>T (p.Thr50Met)Costello syndrome [RCV005179162]uncertain significance11533907533907Human1name
12890843CV398682single nucleotide variantNM_005343.4(HRAS):c.106A>G (p.Ile36Val)Costello syndrome [RCV000475424]uncertain significance11534217534217Human1name
9691715CV48905single nucleotide variantNM_005343.4(HRAS):c.175G>A (p.Ala59Thr)Costello syndrome [RCV000150835]|Non-small cell lung carcinoma [RCV000150834]|RASopathy [RCV004760350]likely pathogenic|conflicting interpretations of pathogenicity11533881533881Human4name
9832735CV48906single nucleotide variantNM_005343.4(HRAS):c.179G>A (p.Gly60Asp)Costello syndrome [RCV001387769]|not provided [RCV000157917]pathogenic11533877533877Human1name
9689087CV48907single nucleotide variantNM_005343.4(HRAS):c.257A>C (p.Asn86Thr)Costello syndrome [RCV001085194]|HRAS-related disorder [RCV003944864]|Hereditary cancer-predisposing syndrome [RCV002257370]|Noonan syndrome [RCV001261051]|Noonan syndrome and Noonan-related syndrome [RCV001813234]|RASopathy [RCV000519779]|not provided [RCV00068benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance11533799533799Human4name , trait , alternate_id
11039905CV48908single nucleotide variantNM_005343.4(HRAS):c.266C>G (p.Ser89Cys)not provided [RCV000207497]likely pathogenic11533790533790Humanname
9586841CV48909single nucleotide variantNM_005343.4(HRAS):c.277A>G (p.Ile93Val)Costello syndrome [RCV000524082]|Pulmonic stenosis [RCV000143899]|RASopathy [RCV004760351]|not provided [RCV000157920]likely benign|uncertain significance11533779533779Human4name
13527931CV513316duplicationNM_176795.5(HRAS):c.500dup (p.Pro169fs)Congenital fibrosis of extraocular muscles [RCV003883157]|Costello syndrome [RCV000625815]pathogenic|uncertain significance11533308533309Human3name
13605867CV526481duplicationNM_005343.4(HRAS):c.552dup (p.Lys185fs)Costello syndrome [RCV000637304]uncertain significance11532653532654Human1name
13703159CV539145single nucleotide variantNM_005343.4(HRAS):c.145G>A (p.Glu49Lys)Costello syndrome [RCV002530595]|Vascular Tumors Including Pyogenic Granuloma [RCV000662269]likely pathogenic|uncertain significance11533911533911Human1name
13703161CV539146single nucleotide variantNM_005343.4(HRAS):c.100C>T (p.Pro34Ser)Vascular Tumors Including Pyogenic Granuloma [RCV000662272]uncertain significance11534223534223Humanname
13797295CV552663single nucleotide variantNM_005343.4(HRAS):c.137T>C (p.Ile46Thr)Costello syndrome [RCV001861890]|not provided [RCV000681108]likely pathogenic|uncertain significance11533919533919Human1name
13813842CV570706single nucleotide variantNM_005343.4(HRAS):c.238T>A (p.Cys80Ser)Costello syndrome [RCV000704627]uncertain significance11533818533818Human1name
14393681CV609793single nucleotide variantNM_005343.4(HRAS):c.214A>C (p.Met72Leu)Costello syndrome [RCV005056501]|not provided [RCV000756250]uncertain significance11533842533842Human1name
14743746CV640155single nucleotide variantNM_005343.4(HRAS):c.275A>C (p.Asp92Ala)Costello syndrome [RCV000823640]uncertain significance11533781533781Human1name
14732220CV640156single nucleotide variantNM_005343.4(HRAS):c.178G>A (p.Gly60Ser)Costello syndrome [RCV000818197]likely pathogenic|uncertain significance11533878533878Human1name
26917036CV838563single nucleotide variantNM_005343.4(HRAS):c.282C>G (p.His94Gln)Cardiovascular phenotype [RCV004031788]|Costello syndrome [RCV001056731]uncertain significance11533774533774Human1name
26895536CV838564single nucleotide variantNM_005343.4(HRAS):c.280C>T (p.His94Tyr)Costello syndrome [RCV001069666]uncertain significance11533776533776Human1name
26886955CV838565single nucleotide variantNM_005343.4(HRAS):c.133G>A (p.Val45Ile)Costello syndrome [RCV001044559]uncertain significance11533923533923Human1name
38493267CV926274single nucleotide variantNM_005343.4(HRAS):c.260C>A (p.Thr87Asn)Costello syndrome [RCV001224158]uncertain significance11533796533796Human1name
38488591CV935598single nucleotide variantNM_005343.4(HRAS):c.274G>A (p.Asp92Asn)Costello syndrome [RCV001209828]uncertain significance11533782533782Human1name
38475491CV935599single nucleotide variantNM_005343.4(HRAS):c.263A>G (p.Lys88Arg)Costello syndrome [RCV001204299]uncertain significance11533793533793Human1name
38480299CV935600single nucleotide variantNM_005343.4(HRAS):c.245T>G (p.Phe82Cys)Costello syndrome [RCV001206337]uncertain significance11533811533811Human1name
38470724CV947502single nucleotide variantNM_005343.4(HRAS):c.297G>T (p.Gln99His)Costello syndrome [RCV001231060]uncertain significance11533606533606Human1name
38473071CV947503duplicationNM_005343.4(HRAS):c.270dup (p.Glu91Ter)Costello syndrome [RCV001231755]uncertain significance11533785533786Human1name
38493339CV956532single nucleotide variantNM_005343.4(HRAS):c.295C>G (p.Gln99Glu)Costello syndrome [RCV001240627]uncertain significance11533608533608Human1name
126754241CV994569single nucleotide variantNM_005343.4(HRAS):c.269T>C (p.Phe90Ser)Costello syndrome [RCV001307584]|not provided [RCV004779049]uncertain significance11533787533787Human1name
126747196CV994570single nucleotide variantNM_005343.4(HRAS):c.245T>C (p.Phe82Ser)Costello syndrome [RCV001306208]uncertain significance11533811533811Human1name
126751537CV994571single nucleotide variantNM_005343.4(HRAS):c.138T>G (p.Ile46Met)Costello syndrome [RCV001297540]uncertain significance11533918533918Human1name
126739400CV1009736single nucleotide variantNM_005343.4(HRAS):c.517C>T (p.Pro173Ser)Costello syndrome [RCV001325045]|not provided [RCV002466661]uncertain significance11532689532689Human1name
126761276CV1009737single nucleotide variantNM_005343.4(HRAS):c.497A>G (p.His166Arg)Costello syndrome [RCV001318591]|HRAS-related disorder [RCV003399099]uncertain significance11532709532709Human1name , trait , alternate_id
126764072CV1009738single nucleotide variantNM_005343.4(HRAS):c.479T>C (p.Val160Ala)Costello syndrome [RCV001319495]uncertain significance11532727532727Human1name
126767359CV1009739single nucleotide variantNM_005343.4(HRAS):c.427G>A (p.Glu143Lys)Costello syndrome [RCV001320813]uncertain significance11533476533476Human1name
126769305CV1009741single nucleotide variantNM_005343.4(HRAS):c.391C>G (p.Gln131Glu)Costello syndrome [RCV001321875]uncertain significance11533512533512Human1name
126737044CV1009742single nucleotide variantNM_005343.4(HRAS):c.358C>G (p.Leu120Val)Costello syndrome [RCV001324745]uncertain significance11533545533545Human1name
126769005CV1009743single nucleotide variantNM_005343.4(HRAS):c.307G>A (p.Val103Met)Costello syndrome [RCV001321698]uncertain significance11533596533596Human1name
126740263CV1017461single nucleotide variantNM_005343.4(HRAS):c.386A>G (p.Gln129Arg)Costello syndrome [RCV001329395]|HRAS-related disorder [RCV005225372]|not specified [RCV005419086]conflicting interpretations of pathogenicity|uncertain significance11533517533517Human1name , trait , alternate_id
126765018CV1030297single nucleotide variantNM_005343.4(HRAS):c.545T>C (p.Met182Thr)Costello syndrome [RCV001341872]uncertain significance11532661532661Human1name
126773539CV1030298single nucleotide variantNM_005343.4(HRAS):c.542G>A (p.Cys181Tyr)Costello syndrome [RCV001346242]uncertain significance11532664532664Human1name
126753485CV1030299single nucleotide variantNM_005343.4(HRAS):c.506G>T (p.Arg169Leu)Costello syndrome [RCV001338600]uncertain significance11532700532700Human1name
126748226CV1030300single nucleotide variantNM_005343.4(HRAS):c.484G>A (p.Glu162Lys)Costello syndrome [RCV001337613]|not provided [RCV001550317]uncertain significance11532722532722Human1name
126748242CV1030301single nucleotide variantNM_005343.4(HRAS):c.424A>G (p.Ile142Val)Costello syndrome [RCV001351824]uncertain significance11533479533479Human1name
126737710CV1030302single nucleotide variantNM_005343.4(HRAS):c.379T>C (p.Ser127Pro)Cardiovascular phenotype [RCV004036624]|Costello syndrome [RCV001350388]uncertain significance11533524533524Human1name
126746909CV1030303single nucleotide variantNM_005343.4(HRAS):c.370A>G (p.Thr124Ala)Cardiovascular phenotype [RCV005340829]|Costello syndrome [RCV001351593]|not provided [RCV002224077]uncertain significance11533533533533Human1name
126753885CV1030304single nucleotide variantNM_005343.4(HRAS):c.361G>A (p.Ala121Thr)Costello syndrome [RCV001338691]|Ovarian cancer [RCV003153999]benign|uncertain significance11533542533542Human3name
126916173CV1047282single nucleotide variantNM_005343.4(HRAS):c.536C>T (p.Pro179Leu)Costello syndrome [RCV001360423]|not provided [RCV002269365]uncertain significance11532670532670Human1name
126921912CV1047283single nucleotide variantNM_005343.4(HRAS):c.515A>G (p.Asn172Ser)Costello syndrome [RCV001364047]uncertain significance11532691532691Human1name
126919337CV1047284single nucleotide variantNM_005343.4(HRAS):c.463G>A (p.Ala155Thr)Costello syndrome [RCV001373169]uncertain significance11532743532743Human1name
126918930CV1047285single nucleotide variantNM_005343.4(HRAS):c.329C>T (p.Pro110Leu)Costello syndrome [RCV001372946]uncertain significance11533574533574Human1name
150429000CV1187757single nucleotide variantNM_005343.4(HRAS):c.468C>G (p.Phe156Leu)not provided [RCV001563014]pathogenic11532738532738Humanname
150543973CV1310048single nucleotide variantNM_176795.5(HRAS):c.481G>A (p.Gly161Arg)Costello syndrome [RCV005095098]|not provided [RCV003238053]likely benign|uncertain significance11533328533328Human1name
150533930CV1311376single nucleotide variantNM_005343.4(HRAS):c.454G>A (p.Val152Met)Costello syndrome [RCV002541093]|not provided [RCV001777111]uncertain significance11532752532752Human1name
151234020CV1318065single nucleotide variantNM_005343.4(HRAS):c.466T>C (p.Phe156Leu)Costello syndrome [RCV001789705]pathogenic11532740532740Human1name
151352137CV1325101single nucleotide variantNM_005343.4(HRAS):c.521C>A (p.Pro174His)Noonan syndrome and Noonan-related syndrome [RCV001813656]uncertain significance11532685532685Humanname
151811769CV1346809single nucleotide variantNM_005343.4(HRAS):c.362C>A (p.Ala121Asp)Costello syndrome [RCV002048924]uncertain significance11533541533541Human1name
151796281CV1356002single nucleotide variantNM_005343.4(HRAS):c.368G>A (p.Arg123His)Costello syndrome [RCV002027674]uncertain significance11533535533535Human1name
151745714CV1360987single nucleotide variantNM_005343.4(HRAS):c.425T>C (p.Ile142Thr)Costello syndrome [RCV001871491]uncertain significance11533478533478Human1name
151836745CV1371354single nucleotide variantNM_005343.4(HRAS):c.365C>T (p.Ala122Val)Costello syndrome [RCV001921064]uncertain significance11533538533538Human1name
151805445CV1371977single nucleotide variantNM_005343.4(HRAS):c.367C>G (p.Arg123Gly)Costello syndrome [RCV001953316]uncertain significance11533536533536Human1name
8687785CV138253single nucleotide variantNM_005343.4(HRAS):c.473C>T (p.Thr158Met)Costello syndrome [RCV000813562]|not provided [RCV004696851]|not specified [RCV000121201]uncertain significance|not provided11532733532733Human1name
151830409CV1391672single nucleotide variantNM_005343.4(HRAS):c.476T>C (p.Leu159Ser)Costello syndrome [RCV002050671]uncertain significance11532730532730Human1name
151821173CV1416320single nucleotide variantNM_005343.4(HRAS):c.535C>T (p.Pro179Ser)Cardiovascular phenotype [RCV002344051]|Costello syndrome [RCV001919589]|not provided [RCV003159220]uncertain significance11532671532671Human1name
151772243CV1417959single nucleotide variantNM_005343.4(HRAS):c.551G>A (p.Cys184Tyr)Costello syndrome [RCV001874567]uncertain significance11532655532655Human1name
151856537CV1422009single nucleotide variantNM_005343.4(HRAS):c.496C>T (p.His166Tyr)Costello syndrome [RCV001938019]uncertain significance11532710532710Human1name
151782158CV1422238single nucleotide variantNM_005343.4(HRAS):c.364G>A (p.Ala122Thr)Costello syndrome [RCV001972181]uncertain significance11533539533539Human1name
151774387CV1427942single nucleotide variantNM_005343.4(HRAS):c.400G>A (p.Ala134Thr)Costello syndrome [RCV001915290]uncertain significance11533503533503Human1name
151723704CV1436896single nucleotide variantNM_005343.4(HRAS):c.429G>C (p.Glu143Asp)Costello syndrome [RCV002004007]uncertain significance11533474533474Human1name
151724649CV1451974single nucleotide variantNM_005343.4(HRAS):c.307G>C (p.Val103Leu)Costello syndrome [RCV002040529]uncertain significance11533596533596Human1name
151872713CV1467036single nucleotide variantNM_005343.4(HRAS):c.325G>A (p.Val109Met)Costello syndrome [RCV001925424]uncertain significance11533578533578Human1name
151797054CV1467589single nucleotide variantNM_005343.4(HRAS):c.415A>T (p.Ile139Phe)Costello syndrome [RCV001952572]uncertain significance11533488533488Human1name
151753327CV1471072single nucleotide variantNM_005343.4(HRAS):c.313G>A (p.Asp105Asn)Costello syndrome [RCV001948371]uncertain significance11533590533590Human1name
151889640CV1479752single nucleotide variantNM_005343.4(HRAS):c.530G>A (p.Ser177Asn)Costello syndrome [RCV001888222]uncertain significance11532676532676Human1name
151809113CV1483613single nucleotide variantNM_005343.4(HRAS):c.551G>C (p.Cys184Ser)Costello syndrome [RCV001918427]uncertain significance11532655532655Human1name
151854252CV1485414single nucleotide variantNM_005343.4(HRAS):c.383G>T (p.Arg128Leu)Costello syndrome [RCV002033573]uncertain significance11533520533520Human1name
151751647CV1508424single nucleotide variantNM_005343.4(HRAS):c.331A>G (p.Met111Val)Costello syndrome [RCV001986343]uncertain significance11533572533572Human1name
151758719CV1510825single nucleotide variantNM_005343.4(HRAS):c.376G>C (p.Glu126Gln)Costello syndrome [RCV001948892]uncertain significance11533527533527Human1name
151733618CV1512450single nucleotide variantNM_005343.4(HRAS):c.413G>T (p.Gly138Val)Costello syndrome [RCV002021551]uncertain significance11533490533490Human1name
153002332CV1685330single nucleotide variantNM_005343.4(HRAS):c.481C>G (p.Arg161Gly)Hereditary cancer-predisposing syndrome [RCV002258705]uncertain significance11532725532725Human1name
9689141CV174801single nucleotide variantNM_005343.4(HRAS):c.505C>T (p.Arg169Trp)Cardiovascular phenotype [RCV002345496]|Costello syndrome [RCV000803493]|Large congenital melanocytic nevus [RCV002505170]|not specified [RCV000154576]uncertain significance11532701532701Human14name
9689080CV175214single nucleotide variantNM_005343.4(HRAS):c.418C>T (p.Pro140Ser)Costello syndrome [RCV000700279]|not specified [RCV000154499]likely benign|uncertain significance11533485533485Human1name
155705445CV1774975single nucleotide variantNM_005343.4(HRAS):c.530G>C (p.Ser177Thr)Costello syndrome [RCV002300209]uncertain significance11532676532676Human1name
155749055CV1777213single nucleotide variantNM_005343.4(HRAS):c.559G>A (p.Val187Met)Costello syndrome [RCV002304250]uncertain significance11532647532647Human1name
155742325CV1777221single nucleotide variantNM_005343.4(HRAS):c.484G>C (p.Glu162Gln)Costello syndrome [RCV002302904]uncertain significance11532722532722Human1name
155706794CV1778380single nucleotide variantNM_005343.4(HRAS):c.325G>T (p.Val109Leu)Costello syndrome [RCV002295996]uncertain significance11533578533578Human1name
9832740CV179411single nucleotide variantNM_005343.4(HRAS):c.544A>G (p.Met182Val)Costello syndrome [RCV001219043]|not provided [RCV000157924]uncertain significance11532662532662Human1name
9832743CV179412single nucleotide variantNM_005343.4(HRAS):c.506G>A (p.Arg169Gln)Costello syndrome [RCV000463046]|HRAS-related disorder [RCV003390855]|Hereditary cancer-predisposing syndrome [RCV002258816]|Large congenital melanocytic nevus [RCV002492617]|not provided [RCV000505776]uncertain significance11532700532700Human15name , trait , alternate_id
9832739CV179413single nucleotide variantNM_005343.4(HRAS):c.368G>C (p.Arg123Pro)Costello syndrome [RCV000533738]|Hereditary cancer-predisposing syndrome [RCV002257459]likely pathogenic|uncertain significance11533535533535Human2name
9832738CV179414single nucleotide variantNM_005343.4(HRAS):c.367C>T (p.Arg123Cys)Costello syndrome [RCV000471505]|Large congenital melanocytic nevus [RCV005049434]|not provided [RCV000157922]|not specified [RCV000606057]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance11533536533536Human7name
9832742CV179415single nucleotide variantNM_005343.4(HRAS):c.362C>T (p.Ala121Val)Costello syndrome [RCV001850200]|not provided [RCV000157927]uncertain significance11533541533541Human1name
9832737CV179416single nucleotide variantNM_005343.4(HRAS):c.317C>G (p.Ser106Trp)Cardiovascular phenotype [RCV002321658]|Costello syndrome [RCV000816581]|not provided [RCV000157921]uncertain significance11533586533586Human1name
155669278CV1856277single nucleotide variantNM_005343.4(HRAS):c.302A>T (p.Lys101Ile)Cardiovascular phenotype [RCV002435979]uncertain significance11533601533601Humanname
156008542CV1870627single nucleotide variantNM_005343.4(HRAS):c.473C>G (p.Thr158Arg)Costello syndrome [RCV003076952]uncertain significance11532733532733Human1name
156197205CV1889813single nucleotide variantNM_005343.4(HRAS):c.451G>C (p.Gly151Arg)Costello syndrome [RCV003084081]uncertain significance11532755532755Human1name
156041509CV1891072single nucleotide variantNM_005343.4(HRAS):c.403C>T (p.Arg135Ter)Costello syndrome [RCV003078535]uncertain significance11533500533500Human1name
156436132CV1937351single nucleotide variantNM_005343.4(HRAS):c.424A>T (p.Ile142Phe)Costello syndrome [RCV003105215]uncertain significance11533479533479Human1name
156441484CV1944141single nucleotide variantNM_005343.4(HRAS):c.489C>G (p.Ile163Met)Costello syndrome [RCV003111810]uncertain significance11532717532717Human1name
156445095CV1945090single nucleotide variantNM_005343.4(HRAS):c.376G>T (p.Glu126Ter)Costello syndrome [RCV003116030]uncertain significance11533527533527Human1name
156415069CV1965025single nucleotide variantNM_005343.4(HRAS):c.323A>G (p.Asp108Gly)Costello syndrome [RCV002588959]uncertain significance11533580533580Human1name
156272397CV2004213single nucleotide variantNM_005343.4(HRAS):c.479T>G (p.Val160Gly)Costello syndrome [RCV002646576]uncertain significance11532727532727Human1name
156125026CV2072697single nucleotide variantNM_005343.4(HRAS):c.518C>G (p.Pro173Arg)Costello syndrome [RCV002825450]likely benign11532688532688Human1name
156294983CV2073432single nucleotide variantNM_005343.4(HRAS):c.406A>G (p.Ser136Gly)Costello syndrome [RCV002833358]uncertain significance11533497533497Human1name
156038742CV2097878single nucleotide variantNM_005343.4(HRAS):c.446G>A (p.Arg149Gln)Costello syndrome [RCV002885723]|HRAS-related disorder [RCV003395528]uncertain significance11533457533457Human1name , trait , alternate_id
156350316CV2147053single nucleotide variantNM_005343.4(HRAS):c.486G>C (p.Glu162Asp)Costello syndrome [RCV003030820]uncertain significance11532720532720Human1name
155996255CV2156557single nucleotide variantNM_005343.4(HRAS):c.451G>A (p.Gly151Arg)Costello syndrome [RCV002996801]uncertain significance11532755532755Human1name
156187878CV2178783single nucleotide variantNM_005343.4(HRAS):c.477G>T (p.Leu159Phe)Costello syndrome [RCV003057735]uncertain significance11532729532729Human1name
156297813CV2180457single nucleotide variantNM_005343.4(HRAS):c.319G>A (p.Asp107Asn)Costello syndrome [RCV003027950]uncertain significance11533584533584Human1name
156096507CV2183587single nucleotide variantNM_005343.4(HRAS):c.313G>C (p.Asp105His)Costello syndrome [RCV003054560]uncertain significance11533590533590Human1name
11349040CV241153single nucleotide variantNM_005343.4(HRAS):c.546G>A (p.Met182Ile)Costello syndrome [RCV000229010]|Large congenital melanocytic nevus [RCV005049496]|not specified [RCV003993902]likely benign|uncertain significance11532660532660Human7name
11346394CV241154single nucleotide variantNM_005343.4(HRAS):c.498C>A (p.His166Gln)Costello syndrome [RCV000228331]likely benign|uncertain significance11532708532708Human1name
8599072CV27644single nucleotide variantNM_005343.4(HRAS):c.350A>G (p.Lys117Arg)Costello syndrome [RCV000013439]|RASopathy [RCV005252033]|not provided [RCV000353386]pathogenic11533553533553Human2name
8563227CV27646single nucleotide variantNM_005343.4(HRAS):c.436G>A (p.Ala146Thr)Costello syndrome [RCV000013441]pathogenic|likely pathogenic11533467533467Human1name
8563230CV27650single nucleotide variantNM_005343.4(HRAS):c.437C>T (p.Ala146Val)Costello syndrome [RCV000013445]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters11533466533466Human1name
405015639CV2855339single nucleotide variantNM_005343.4(HRAS):c.538G>C (p.Gly180Arg)Costello syndrome [RCV003515374]uncertain significance11532668532668Human1name
405016735CV2857004single nucleotide variantNM_005343.4(HRAS):c.407G>C (p.Ser136Thr)Costello syndrome [RCV003515519]uncertain significance11533496533496Human1name
405008048CV2857078single nucleotide variantNM_005343.4(HRAS):c.511C>G (p.Leu171Val)Costello syndrome [RCV003514672]uncertain significance11532695532695Human1name
405018047CV2878215single nucleotide variantNM_005343.4(HRAS):c.532G>A (p.Gly178Ser)Costello syndrome [RCV003515621]uncertain significance11532674532674Human1name
402496660CV2975403single nucleotide variantNM_005343.4(HRAS):c.457G>T (p.Glu153Ter)Costello syndrome [RCV003627822]uncertain significance11532749532749Human1name
402498350CV2980814single nucleotide variantNM_005343.4(HRAS):c.460G>T (p.Asp154Tyr)Costello syndrome [RCV003627913]likely benign11532746532746Human1name
402497975CV2981445single nucleotide variantNM_005343.4(HRAS):c.516C>A (p.Asn172Lys)Costello syndrome [RCV003627985]uncertain significance11532690532690Human1name
402498221CV2988428single nucleotide variantNM_005343.4(HRAS):c.493C>A (p.Gln165Lys)Costello syndrome [RCV003628010]uncertain significance11532713532713Human1name
402499217CV2989560single nucleotide variantNM_005343.4(HRAS):c.305G>A (p.Arg102Gln)Costello syndrome [RCV003628118]uncertain significance11533598533598Human1name
402503591CV3013374single nucleotide variantNM_005343.4(HRAS):c.395A>G (p.Asp132Gly)Costello syndrome [RCV003628575]uncertain significance11533508533508Human1name
402490971CV3045797single nucleotide variantNM_005343.4(HRAS):c.443C>G (p.Thr148Ser)Costello syndrome [RCV003627211]uncertain significance11533460533460Human1name
402490650CV3054995single nucleotide variantNM_005343.4(HRAS):c.374T>G (p.Val125Gly)Costello syndrome [RCV003627154]uncertain significance11533529533529Human1name
402491304CV3066855single nucleotide variantNM_005343.4(HRAS):c.412G>C (p.Gly138Arg)Costello syndrome [RCV003627248]uncertain significance11533491533491Human1name
405181744CV3119991single nucleotide variantNM_005343.4(HRAS):c.347A>G (p.Asn116Ser)Costello syndrome [RCV003820084]uncertain significance11533556533556Human1name
405143425CV3126074single nucleotide variantNM_005343.4(HRAS):c.331A>T (p.Met111Leu)Cardiovascular phenotype [RCV004366729]|Costello syndrome [RCV003816990]uncertain significance11533572533572Human1name
405160217CV3152949single nucleotide variantNM_005343.4(HRAS):c.343G>A (p.Gly115Arg)Costello syndrome [RCV003840684]uncertain significance11533560533560Human1name
405253520CV3174498single nucleotide variantNM_005343.4(HRAS):c.473C>A (p.Thr158Lys)Costello syndrome [RCV003871128]uncertain significance11532733532733Human1name
405262238CV3194421single nucleotide variantNM_005343.4(HRAS):c.434C>T (p.Ser145Leu)HRAS-related disorder [RCV003896450]uncertain significance11533469533469Humanname , trait , alternate_id
405289979CV3214047single nucleotide variantNM_176795.5(HRAS):c.457C>T (p.Arg153Cys)HRAS-related disorder [RCV003926889]likely benign11533352533352Humanname , trait , alternate_id
407425171CV3411142single nucleotide variantNM_005343.4(HRAS):c.389C>T (p.Ala130Val)not provided [RCV004588832]uncertain significance11533514533514Humanname
407528315CV3433919single nucleotide variantNM_005343.4(HRAS):c.478G>C (p.Val160Leu)Cardiovascular phenotype [RCV004633108]uncertain significance11532728532728Humanname
596929787CV3531152single nucleotide variantNM_005343.4(HRAS):c.403C>G (p.Arg135Gly)not provided [RCV004779726]uncertain significance11533500533500Humanname
12741261CV360035single nucleotide variantNM_005343.4(HRAS):c.304C>T (p.Arg102Trp)Costello syndrome [RCV001369972]|not specified [RCV000414564]uncertain significance11533599533599Human1name
12834386CV363321single nucleotide variantNM_005343.4(HRAS):c.436G>C (p.Ala146Pro)Acute myeloid leukemia [RCV000417704]|Gastric adenocarcinoma [RCV000439704]|Lung adenocarcinoma [RCV000439018]|Multiple myeloma [RCV000429488]|Neoplasm of the large intestine [RCV000427905]|Neoplasm of uterine cervix [RCV000418346]likely pathogenic11533467533467Human5name
597725414CV3729987single nucleotide variantNM_005343.4(HRAS):c.550T>G (p.Cys184Gly)Large congenital melanocytic nevus [RCV005050243]uncertain significance11532656532656Human6name
597836051CV3764477single nucleotide variantNM_005343.4(HRAS):c.500A>G (p.Lys167Arg)Costello syndrome [RCV005107277]uncertain significance11532706532706Human1name
597836055CV3764478single nucleotide variantNM_005343.4(HRAS):c.446G>T (p.Arg149Leu)Costello syndrome [RCV005107278]uncertain significance11533457533457Human1name
597836059CV3764480single nucleotide variantNM_005343.4(HRAS):c.377A>G (p.Glu126Gly)Costello syndrome [RCV005107280]uncertain significance11533526533526Human1name
597836162CV3764617single nucleotide variantNM_005343.4(HRAS):c.509A>G (p.Lys170Arg)Costello syndrome [RCV005107416]uncertain significance11532697532697Human1name
597878178CV3803924single nucleotide variantNM_005343.4(HRAS):c.340G>A (p.Val114Met)Costello syndrome [RCV005153469]uncertain significance11533563533563Human1name
12890815CV398678single nucleotide variantNM_005343.4(HRAS):c.391C>T (p.Gln131Ter)Costello syndrome [RCV000475366]|Large congenital melanocytic nevus [RCV005049560]|not provided [RCV002464203]uncertain significance11533512533512Human7name
12880860CV398759single nucleotide variantNM_005343.4(HRAS):c.398T>A (p.Leu133His)Cardiovascular phenotype [RCV002374788]|Costello syndrome [RCV000456787]|Linear nevus sebaceous syndrome [RCV001535653]|not provided [RCV000681068]|not specified [RCV003151066]uncertain significance|not provided11533505533505Human4name
12892034CV398760single nucleotide variantNM_005343.4(HRAS):c.317C>T (p.Ser106Leu)Costello syndrome [RCV000469881]uncertain significance11533586533586Human1name
617152957CV4018513single nucleotide variantNM_005343.4(HRAS):c.326T>C (p.Val109Ala)not specified [RCV005418774]uncertain significance11533577533577Humanname
12898552CV408384single nucleotide variantNM_005343.4(HRAS):c.448C>T (p.Gln150Ter)not provided [RCV000478173]uncertain significance11533455533455Humanname
12913615CV421862single nucleotide variantNM_005343.4(HRAS):c.302A>G (p.Lys101Arg)Costello syndrome [RCV000705122]|not provided [RCV000494039]likely benign|uncertain significance11533601533601Human1name
13475520CV461199single nucleotide variantNM_005343.4(HRAS):c.518C>T (p.Pro173Leu)Costello syndrome [RCV000526328]|Intellectual disability [RCV001260727]uncertain significance11532688532688Human3name
13494370CV461389single nucleotide variantNM_005343.4(HRAS):c.413G>A (p.Gly138Asp)Costello syndrome [RCV000558860]uncertain significance11533490533490Human1name
13474758CV461709single nucleotide variantNM_005343.4(HRAS):c.452G>C (p.Gly151Ala)Costello syndrome [RCV000525978]uncertain significance11532754532754Human1name
9832732CV48914single nucleotide variantNM_176795.5(HRAS):c.500C>T (p.Pro167Leu)not specified [RCV000157908]likely benign11533309533309Humanname
12842476CV48915single nucleotide variantNM_005343.4(HRAS):c.460G>A (p.Asp154Asn)Costello syndrome [RCV000637302]|not provided [RCV000434487]likely benign|conflicting interpretations of pathogenicity|uncertain significance11532746532746Human1name
9832733CV48917single nucleotide variantNM_005343.4(HRAS):c.508A>T (p.Lys170Ter)Costello syndrome [RCV000551172]|Large congenital melanocytic nevus [RCV002477044]|not provided [RCV000157909]likely benign|uncertain significance11532698532698Human7name
8608146CV48918single nucleotide variantNM_005343.4(HRAS):c.520C>T (p.Pro174Ser)Costello syndrome [RCV000234040]|HRAS-related disorder [RCV003944865]|Hereditary cancer-predisposing syndrome [RCV002258783]|Large congenital melanocytic nevus [RCV000755642]|RASopathy [RCV000520658]|not specified [RCV000038467]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance11532686532686Human16name , trait , alternate_id
13516382CV494969single nucleotide variantNM_005343.4(HRAS):c.445C>T (p.Arg149Trp)Costello syndrome [RCV000700035]|not provided [RCV000681102]|not specified [RCV000595459]uncertain significance11533458533458Human1name
13542050CV497621single nucleotide variantNM_005343.4(HRAS):c.482G>A (p.Arg161His)Costello syndrome [RCV001202259]|not specified [RCV000616994]uncertain significance11532724532724Human1name
13605868CV526484single nucleotide variantNM_005343.4(HRAS):c.383G>C (p.Arg128Pro)Costello syndrome [RCV000637305]uncertain significance11533520533520Human1name
13605866CV526759single nucleotide variantNM_005343.4(HRAS):c.397C>T (p.Leu133Phe)Cardiovascular phenotype [RCV002358789]|Costello syndrome [RCV000637303]likely benign|uncertain significance11533506533506Human1name
8608142CV54470single nucleotide variantNM_005343.4(HRAS):c.401C>T (p.Ala134Val)Costello syndrome [RCV000230783]|not specified [RCV000038463]uncertain significance11533502533502Human1name
8608143CV54471single nucleotide variantNM_005343.4(HRAS):c.412G>A (p.Gly138Ser)Cardiovascular phenotype [RCV004018874]|Costello syndrome [RCV000548489]|HRAS-related disorder [RCV003421952]|Hereditary cancer-predisposing syndrome [RCV002257383]|Large congenital melanocytic nevus [RCV005049407]|RASopathy [RCV001030071]|not provided [RCV00068likely benign|uncertain significance11533491533491Human16name , trait , alternate_id
13811430CV564738single nucleotide variantNM_005343.4(HRAS):c.490C>T (p.Arg164Trp)Costello syndrome [RCV000703060]|Hereditary cancer-predisposing syndrome [RCV002259010]|not specified [RCV005240496]uncertain significance11532716532716Human2name
13808523CV564743single nucleotide variantNM_005343.4(HRAS):c.394G>A (p.Asp132Asn)Costello syndrome [RCV000687312]|not provided [RCV000788501]|not specified [RCV004782512]uncertain significance11533509533509Human1name
13818263CV564745single nucleotide variantNM_005343.4(HRAS):c.388G>C (p.Ala130Pro)Costello syndrome [RCV000707594]conflicting interpretations of pathogenicity|uncertain significance11533515533515Human1name
13812286CV564747single nucleotide variantNM_005343.4(HRAS):c.332T>C (p.Met111Thr)Costello syndrome [RCV000689351]uncertain significance11533571533571Human1name
13813479CV567334single nucleotide variantNM_005343.4(HRAS):c.487A>T (p.Ile163Phe)Costello syndrome [RCV000704391]uncertain significance11532719532719Human1name
13808420CV567338single nucleotide variantNM_005343.4(HRAS):c.461A>T (p.Asp154Val)Costello syndrome [RCV000701626]|HRAS-related disorder [RCV003892562]uncertain significance11532745532745Human1name , trait , alternate_id
13822164CV567341single nucleotide variantNM_005343.4(HRAS):c.424A>C (p.Ile142Leu)Costello syndrome [RCV000696822]uncertain significance11533479533479Human1name
14712188CV640150single nucleotide variantNM_005343.4(HRAS):c.538G>A (p.Gly180Ser)Costello syndrome [RCV000810206]|not provided [RCV002269317]uncertain significance11532668532668Human1name
14731302CV640151single nucleotide variantNM_005343.4(HRAS):c.532G>C (p.Gly178Arg)Costello syndrome [RCV000817769]uncertain significance11532674532674Human1name
14721250CV640152single nucleotide variantNM_005343.4(HRAS):c.520C>G (p.Pro174Ala)Costello syndrome [RCV000797018]|Noonan syndrome [RCV001261054]uncertain significance11532686532686Human2name
14723235CV640153single nucleotide variantNM_005343.4(HRAS):c.481C>T (p.Arg161Cys)Costello syndrome [RCV000797879]|Large congenital melanocytic nevus [RCV002501060]|not provided [RCV001592979]uncertain significance11532725532725Human7name
14706147CV640154single nucleotide variantNM_005343.4(HRAS):c.382C>T (p.Arg128Trp)Costello syndrome [RCV000791901]uncertain significance11533521533521Human1name
15136997CV738027single nucleotide variantNM_005343.4(HRAS):c.535C>G (p.Pro179Ala)Costello syndrome [RCV000898724]likely benign11532671532671Human1name
26922167CV838558single nucleotide variantNM_005343.4(HRAS):c.565T>G (p.Ser189Ala)Costello syndrome [RCV001061654]uncertain significance11532641532641Human1name
26905952CV838559single nucleotide variantNM_005343.4(HRAS):c.548G>A (p.Ser183Asn)Costello syndrome [RCV001037216]|Noonan syndrome [RCV001261055]likely benign|uncertain significance11532658532658Human2name
26913938CV838560single nucleotide variantNM_005343.4(HRAS):c.491G>C (p.Arg164Pro)Costello syndrome [RCV001054590]|Large congenital melanocytic nevus [RCV002481991]uncertain significance11532715532715Human7name
26913173CV838561single nucleotide variantNM_005343.4(HRAS):c.422A>G (p.Tyr141Cys)Costello syndrome [RCV001039872]|Hereditary cancer-predisposing syndrome [RCV002258094]uncertain significance11533481533481Human2name
26905185CV838562single nucleotide variantNM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)Cardiovascular phenotype [RCV002320236]|Costello syndrome [RCV001036900]|Large congenital melanocytic nevus [RCV002505558]uncertain significance11533493533493Human14name
26889422CV838566microsatelliteNM_005343.4(HRAS):c.17TGG[3] (p.Val9del)Costello syndrome [RCV001067470]uncertain significance11534295534297Humanname
38481252CV926270single nucleotide variantNM_005343.4(HRAS):c.544A>C (p.Met182Leu)Costello syndrome [RCV001217922]uncertain significance11532662532662Human1name
38485038CV926271single nucleotide variantNM_005343.4(HRAS):c.539G>A (p.Gly180Asp)Costello syndrome [RCV001219695]uncertain significance11532667532667Human1name
38484446CV926272single nucleotide variantNM_005343.4(HRAS):c.491G>A (p.Arg164Gln)Costello syndrome [RCV001219438]|HRAS-related disorder [RCV003398958]|not provided [RCV001776147]conflicting interpretations of pathogenicity|uncertain significance11532715532715Human1name , trait , alternate_id
38489881CV935593single nucleotide variantNM_005343.4(HRAS):c.566C>T (p.Ser189Phe)Costello syndrome [RCV001210405]uncertain significance11532640532640Human1name
38474054CV935594single nucleotide variantNM_005343.4(HRAS):c.503T>C (p.Leu168Pro)Costello syndrome [RCV001203653]|Noonan syndrome and Noonan-related syndrome [RCV001813581]|not provided [RCV004697069]uncertain significance11532703532703Human1name
38478725CV935595single nucleotide variantNM_005343.4(HRAS):c.463G>T (p.Ala155Ser)Costello syndrome [RCV001205671]uncertain significance11532743532743Human1name
38477031CV935596single nucleotide variantNM_005343.4(HRAS):c.426C>G (p.Ile142Met)Cardiovascular phenotype [RCV002327468]|Costello syndrome [RCV001204909]uncertain significance11533477533477Human1name
38486161CV935597single nucleotide variantNM_005343.4(HRAS):c.407G>A (p.Ser136Asn)Costello syndrome [RCV001208775]uncertain significance11533496533496Human1name
38496820CV947499single nucleotide variantNM_005343.4(HRAS):c.427G>C (p.Glu143Gln)Costello syndrome [RCV001226647]|not provided [RCV004768941]uncertain significance11533476533476Human1name
38475724CV947500single nucleotide variantNM_005343.4(HRAS):c.419C>T (p.Pro140Leu)Cardiovascular phenotype [RCV004033178]|Costello syndrome [RCV001232757]uncertain significance11533484533484Human1name
38480442CV947501single nucleotide variantNM_005343.4(HRAS):c.383G>A (p.Arg128Gln)Costello syndrome [RCV001234711]uncertain significance11533520533520Human1name
38490571CV956531single nucleotide variantNM_005343.4(HRAS):c.464C>T (p.Ala155Val)Costello syndrome [RCV001238905]uncertain significance11532742532742Human1name
40813850CV969664single nucleotide variantNM_005343.4(HRAS):c.374T>C (p.Val125Ala)Costello syndrome [RCV001880001]|Noonan syndrome [RCV001261052]uncertain significance11533529533529Human2name
126760876CV994565single nucleotide variantNM_005343.4(HRAS):c.560T>C (p.Val187Ala)Costello syndrome [RCV001309436]uncertain significance11532646532646Human1name
126740947CV994566single nucleotide variantNM_005343.4(HRAS):c.469T>C (p.Tyr157His)Costello syndrome [RCV001305343]uncertain significance11532737532737Human1name
126755872CV994567single nucleotide variantNM_005343.4(HRAS):c.404G>A (p.Arg135Gln)Costello syndrome [RCV001298446]uncertain significance11533499533499Human1name
152157101CV1668962inversionNM_005343.4(HRAS):c.37_38inv (p.Gly13Pro)not specified [RCV002223171]uncertain significance11534285534286Humanname
13519671CV487315duplicationNM_005343.4(HRAS):c.27_29dup (p.Gly10dup)not provided [RCV000586325]uncertain significance11534293534294Humanname
11349237CV241157deletionNM_005343.4(HRAS):c.174_192del (p.Gly60fs)Costello syndrome [RCV000229731]uncertain significance11533864533882Human1name
14702867CV653975duplicationNM_005343.4(HRAS):c.188_230dup (p.Phe78fs)Costello syndrome [RCV000824932]uncertain significance11533825533826Human1name
150557220CV1311425deletionNM_176795.5(HRAS):c.488_497del (p.Leu163fs)Costello syndrome [RCV001775533]|not provided [RCV005057609]pathogenic|likely pathogenic11533312533321Human1name
151742562CV1431636deletionNM_005343.4(HRAS):c.474_475del (p.Leu159fs)Costello syndrome [RCV001926608]uncertain significance11532731532732Humanname
155643740CV1709536indelNM_005343.4(HRAS):c.149delinsGA (p.Thr50fs)Prostate cancer, hereditary, 1 [RCV002292419]uncertain significance11533907533907Humanname
155643742CV1709538insertionNM_005343.4(HRAS):c.144_145insC (p.Glu49fs)Prostate cancer, hereditary, 1 [RCV002292421]uncertain significance11533911533912Human1name
156293598CV1883952microsatelliteNM_005343.4(HRAS):c.529_530del (p.Ser177fs)Costello syndrome [RCV003087592]uncertain significance11532676532677Humanname
155928557CV2095878duplicationNM_005343.4(HRAS):c.177_433dup (p.Glu98Ter)Costello syndrome [RCV002903700]uncertain significance11533463533464Human1name
8568001CV38867duplicationNM_005343.4(HRAS):c.108_110dup (p.Glu37dup)Costello syndrome [RCV000022798]pathogenic11534212534213Human1name
26887811CV818441deletionNM_176795.5(HRAS):c.488_507del (p.Leu163fs)Costello syndrome [RCV003514457]|HRAS-related disorder [RCV003928669]|RASopathy [RCV001030086]|not provided [RCV001619882]benign|likely benign11533302533321Human2name , trait , alternate_id
38492752CV926273deletionNM_005343.4(HRAS):c.412_431del (p.Gly138fs)Costello syndrome [RCV001223776]uncertain significance11533472533491Human1name
155937438CV2075029deletionNM_005343.4(HRAS):c.529_531del (p.Ser177del)Costello syndrome [RCV002861544]uncertain significance11532675532677Human1name
156182077CV2155636deletionNM_005343.4(HRAS):c.566_568del (p.Ser189del)Costello syndrome [RCV003005736]uncertain significance11532638532640Human1name
405026268CV2901931deletionNM_005343.4(HRAS):c.424_426del (p.Ile142del)Costello syndrome [RCV003516394]uncertain significance11533477533479Human1name
155967986CV2077024deletionNM_005343.4(HRAS):c.16_24del (p.Leu6_Val8del)Costello syndrome [RCV002863174]uncertain significance11534299534307Human1name
9691716CV174805indelNM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu)Costello syndrome [RCV000150836]|not provided [RCV000255809]pathogenic|likely pathogenic11534287534288Humanname
9832741CV179420indelNM_005343.4(HRAS):c.35_36delinsAT (p.Gly12Asp)not provided [RCV001678586]pathogenic11534287534288Humanname
11580093CV264557indelNM_005343.4(HRAS):c.35_36delinsTA (p.Gly12Val)not provided [RCV000322736]pathogenic11534287534288Humanname
9832744CV48900indelNM_005343.4(HRAS):c.35_36delinsCT (p.Gly12Ala)not provided [RCV000157929]pathogenic11534287534288Humanname
150420863CV613672indelNM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val)Costello syndrome [RCV001732216]|not provided [RCV001577794]pathogenic11534287534288Humanname
405241331CV3176927indelNM_005343.4(HRAS):c.473_475delinsG (p.Thr158fs)Costello syndrome [RCV003867366]uncertain significance11532731532733Humanname
9690372CV174803indelNM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu)Costello syndrome [RCV000156047]likely pathogenic11533880533881Humanname
12848498CV363199indelNM_005343.4(HRAS):c.182_183delinsGT (p.Gln61Arg)Neoplasm [RCV000435225]likely pathogenic11533873533874Humanname
12848477CV363200indelNM_005343.4(HRAS):c.182_183delinsGA (p.Gln61Arg)Neoplasm [RCV000418005]likely pathogenic11533873533874Humanname
8591083CV125817duplicationNM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup)Costello syndrome [RCV000106320]pathogenic11533848533849Human1name
151804627CV1429750duplicationNM_005343.4(HRAS):c.171_185dup (p.Asp57_Gln61dup)Costello syndrome [RCV001974222]likely pathogenic|uncertain significance11533870533871Human1name
13503811CV461391duplicationNM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup)Costello syndrome [RCV000546898]pathogenic|likely pathogenic|uncertain significance11533849533850Human1name
151757979CV1443593deletionNM_005343.4(HRAS):c.482_511del (p.Arg161_Lys170del)Costello syndrome [RCV001872917]uncertain significance11532695532724Human1name
40813851CV969663duplicationNM_176795.5(HRAS):c.463_468dup (p.Gly155_Ser156dup)Noonan syndrome [RCV001261053]uncertain significance11533340533341Human1name
155982050CV2090603insertionNM_005343.4(HRAS):c.401_402insAAGACCTCGC (p.Ser136fs)Costello syndrome [RCV002881981]uncertain significance11533501533502Human1name
407574679CV3495427duplicationNM_005343.4(HRAS):c.197_217dup (p.Met72_Arg73insProMetArgAspGlnTyrMet)HRAS-related disorder [RCV004720184]|Vascular malformation [RCV005251391]pathogenic|likely pathogenic11533838533839Human1name , trait , alternate_id
153000855CV1683854duplicationNM_005343.4(HRAS):c.191_217dup (p.Met72_Arg73insHisSerAlaMetArgAspGlnTyrMet)not provided [RCV002254473]likely pathogenic11533838533839Humanname
401914244CV2799113duplicationNM_005343.4(HRAS):c.179_205dup (p.Arg68_Asp69insGlyGlnGluGluTyrSerAlaMetArg)HRAS-related disorder [RCV003400256]likely pathogenic11533850533851Humanname , trait , alternate_id
153000856CV1683855duplicationNM_005343.4(HRAS):c.191_220dup (p.Arg73_Thr74insAsnSerAlaMetArgAspGlnTyrMetArg)not provided [RCV002254474]likely pathogenic11533835533836Humanname
407574682CV3495431duplicationNM_005343.4(HRAS):c.203_232dup (p.Gly77_Phe78insTrpAspGlnTyrMetArgThrGlyGluGly)HRAS-related disorder [RCV004720187]pathogenic11533823533824Humanname , trait , alternate_id
15112400CV677975indelNM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal)Arteriovenous malformation [RCV000860022]pathogenic11533879533884Humanname
34896632CV917090insertionNM_005343.4(HRAS):c.165_166insTCCGGAAGCAGGTGGTCATTGATGGGGAGACGTGCCTGTTGGACATC (p.Leu56fs)not specified [RCV001194132]uncertain significance11533890533891Humanname
598214615CV3890653insertionNM_005343.4(HRAS):c.208_209insGGTGGTACAGCGCCATGCGGGACC (p.Asp69_Gln70insArgTrpTyrSerAlaMetArgAsp)Arteriovenous malformation [RCV005251531]likely pathogenic11533847533848Human2name
405869355CV3397747insertionNM_005343.4(HRAS):c.215_216insCTCCAGCGCCATGCGGGACCAGTACAT (p.Tyr71_Met72insIleSerSerAlaMetArgAspGlnTyr)Vascular malformation [RCV004566498]likely pathogenic11533840533841Human1name
598214587CV3890641insertionNM_005343.4(HRAS):c.216_217insAACAGCGCCATGCGGGACCAGTACATG (p.Met72_Arg73insAsnSerAlaMetArgAspGlnTyrMet)Vascular malformation [RCV005251519]likely pathogenic11533839533840Human1name
8634264CV89482single nucleotide variantHRASLS5:c.605G>AMalignant melanoma [RCV000069579]not provided116346625263466252Humanname
8630735CV85890single nucleotide variantNM_020386.4(HRASLS):c.400C>T (p.Gln134Ter)Malignant melanoma [RCV000065974]not provided3193255735193255735Humanname
8630736CV85891single nucleotide variantNM_020386.4(HRASLS):c.793C>T (p.Pro265Ser)Malignant melanoma [RCV000065975]not provided3193270676193270676Humanname