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828 records found for search term Rhob
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
597788373CV3586552single nucleotide variantNM_004040.4(RHOB):c.68T>C (p.Ile23Thr)not specified [RCV004855483]uncertain significance22044753320447533Humanname
151733522CV1336577single nucleotide variantNM_004040.4(RHOB):c.218C>T (p.Ser73Phe)"See Cases" [RCV002294488]|RHOB-related disorder [RCV003147685]|Recurrent pancreatitis [RCV001849806]|not specified [RCV004038703]likely pathogenic|uncertain significance22044768320447683Human3name , trait
598190071CV3902703single nucleotide variantNM_004040.4(RHOB):c.452T>G (p.Ile151Ser)not specified [RCV005266798]uncertain significance22044791720447917Humanname
151784633CV1344186single nucleotide variantNM_015178.3(RHOBTB2):c.-6C>Tnot provided [RCV002046483]uncertain significance82300442923004429Humanname
151826358CV1396171single nucleotide variantNM_015178.3(RHOBTB2):c.-5G>Anot provided [RCV001934623]benign|uncertain significance82300443023004430Humanname
155961126CV1936534single nucleotide variantNM_015178.3(RHOBTB2):c.-122T>Gnot provided [RCV002512351]benign82299999422999994Humanname
401727252CV2736264single nucleotide variantNM_015178.3(RHOBTB2):c.-438C>Gnot provided [RCV003312712]benign82299967822999678Humanname
126774737CV1028463single nucleotide variantNM_015178.3(RHOBTB2):c.296+1G>Anot provided [RCV001347571]likely benign|uncertain significance82300547623005476Humanname
150505017CV1255362single nucleotide variantNM_001160036.2(RHOBTB2):c.-1G>ARHOBTB2-related disorder [RCV003968455]|not provided [RCV001677809]benign82299458322994583Human1name , trait , alternate_id
151823666CV1397777single nucleotide variantNM_015178.3(RHOBTB2):c.192+4A>Cnot provided [RCV001975990]uncertain significance82300463023004630Humanname
152159524CV1544416single nucleotide variantNM_015178.3(RHOBTB2):c.193-8G>Anot provided [RCV002122941]benign82300536423005364Humanname
152081358CV1554655single nucleotide variantNM_015178.3(RHOBTB2):c.193-4C>Gnot provided [RCV002193059]likely benign82300536823005368Humanname
152161873CV1619558single nucleotide variantNM_015178.3(RHOBTB2):c.297-8A>Gnot provided [RCV002159782]likely benign82300595223005952Humanname
156163603CV1971351single nucleotide variantNM_015178.3(RHOBTB2):c.482+5G>Anot provided [RCV002594551]likely benign|uncertain significance82300615023006150Humanname
156246138CV1996572single nucleotide variantNM_015178.3(RHOBTB2):c.297-5C>Tnot provided [RCV002668098]likely benign82300595523005955Humanname
156223787CV2080995single nucleotide variantNM_015178.3(RHOBTB2):c.482+8G>Anot provided [RCV002853310]likely benign82300615323006153Humanname
156009666CV2083303single nucleotide variantNM_015178.3(RHOBTB2):c.193-6C>Tnot provided [RCV002866035]likely benign82300536623005366Humanname
401829288CV2747346single nucleotide variantNM_015178.3(RHOBTB2):c.483-1G>Anot provided [RCV003328811]uncertain significance82300672723006727Humanname
405187706CV2977551single nucleotide variantNM_015178.3(RHOBTB2):c.297-4G>Tnot provided [RCV003706106]likely benign82300595623005956Humanname
150482376CV1247445single nucleotide variantNM_015178.3(RHOBTB2):c.296+29G>TDevelopmental and epileptic encephalopathy, 64 [RCV001796665]|not provided [RCV001673270]benign82300550423005504Human1name
150499294CV1254335single nucleotide variantNM_015178.3(RHOBTB2):c.296+16A>GDevelopmental and epileptic encephalopathy, 64 [RCV001796685]|not provided [RCV001676509]benign82300549123005491Human1name
150544673CV1296869single nucleotide variantNM_015178.3(RHOBTB2):c.1501+1G>Cnot provided [RCV001774159]uncertain significance82300774723007747Humanname
151741172CV1404830single nucleotide variantNM_015178.3(RHOBTB2):c.296+11C>Tnot provided [RCV001947116]likely benign|uncertain significance82300548623005486Humanname
151762918CV1407463deletionNM_015178.3(RHOBTB2):c.1861-7delnot provided [RCV002044487]benign|uncertain significance82301563123015631Humanname
151884813CV1425048single nucleotide variantNM_015178.3(RHOBTB2):c.1771+4A>Gnot provided [RCV001887225]benign|uncertain significance82301069223010692Humanname
151827629CV1472080single nucleotide variantNM_015178.3(RHOBTB2):c.1502-1G>Anot provided [RCV002030488]uncertain significance82300799223007992Humanname
152045486CV1525731single nucleotide variantNM_015178.3(RHOBTB2):c.482+14G>Anot provided [RCV002126608]likely benign82300615923006159Humanname
152084527CV1533514single nucleotide variantNM_015178.3(RHOBTB2):c.296+20G>Anot provided [RCV002093293]benign82300549523005495Humanname
152065024CV1576102single nucleotide variantNM_015178.3(RHOBTB2):c.297-11C>Gnot provided [RCV002209205]likely benign82300594923005949Humanname
152097329CV1599923single nucleotide variantNM_015178.3(RHOBTB2):c.193-17T>Cnot provided [RCV002151364]likely benign82300535523005355Humanname
152137150CV1603685single nucleotide variantNM_015178.3(RHOBTB2):c.-10-11C>Tnot provided [RCV002218874]benign82300441423004414Humanname
152156517CV1615789single nucleotide variantNM_015178.3(RHOBTB2):c.1966+9C>Tnot provided [RCV002158929]likely benign82301575223015752Humanname
152027015CV1626732single nucleotide variantNM_015178.3(RHOBTB2):c.-10-20G>Anot provided [RCV002185354]likely benign82300440523004405Humanname
152062559CV1629797single nucleotide variantNM_015178.3(RHOBTB2):c.296+12C>Tnot provided [RCV002208871]benign82300548723005487Humanname
156403511CV1901675single nucleotide variantNM_015178.3(RHOBTB2):c.1860+7T>Cnot provided [RCV002585228]likely benign82301478523014785Humanname
156225081CV1956617single nucleotide variantNM_015178.3(RHOBTB2):c.193-12C>Tnot provided [RCV002575671]likely benign82300536023005360Humanname
155994376CV1986805single nucleotide variantNM_015178.3(RHOBTB2):c.297-11C>Tnot provided [RCV002618164]likely benign82300594923005949Humanname
156005759CV2015017single nucleotide variantNM_015178.3(RHOBTB2):c.-10-10T>Cnot provided [RCV002690263]likely benign82300441523004415Humanname
155968944CV2030644single nucleotide variantNM_015178.3(RHOBTB2):c.1860+8G>Cnot provided [RCV002731531]likely benign82301478623014786Humanname
156196933CV2038305single nucleotide variantNM_015178.3(RHOBTB2):c.1502-6G>CInborn genetic diseases [RCV004661467]|not provided [RCV002766097]likely benign|uncertain significance82300798723007987Human1name
156275941CV2056199single nucleotide variantNM_015178.3(RHOBTB2):c.-10-11C>Anot provided [RCV002806823]likely benign82300441423004414Humanname
156354105CV2066214single nucleotide variantNM_015178.3(RHOBTB2):c.482+18C>Anot provided [RCV002812003]likely benign82300616323006163Humanname
156216596CV2076896single nucleotide variantNM_015178.3(RHOBTB2):c.1861-1G>Tnot provided [RCV002875700]uncertain significance82301563723015637Humanname
156305847CV2079785single nucleotide variantNM_015178.3(RHOBTB2):c.1860+3A>Tnot provided [RCV002857402]uncertain significance82301478123014781Humanname
155979953CV2090218single nucleotide variantNM_015178.3(RHOBTB2):c.482+12T>Cnot provided [RCV002881885]likely benign82300615723006157Humanname
156125668CV2112318single nucleotide variantNM_015178.3(RHOBTB2):c.1772-3C>Tnot provided [RCV002927993]likely benign82301468723014687Humanname
156331671CV2112720single nucleotide variantNM_015178.3(RHOBTB2):c.1501+5G>Anot provided [RCV002938404]benign82300775123007751Humanname
155989001CV2151117single nucleotide variantNM_015178.3(RHOBTB2):c.1967-8T>Cnot provided [RCV003016733]likely benign82301724423017244Humanname
155934296CV2153447single nucleotide variantNM_015178.3(RHOBTB2):c.193-14C>Tnot provided [RCV003013821]likely benign82300535823005358Humanname
156001548CV2169997single nucleotide variantNM_015178.3(RHOBTB2):c.1771+8A>Gnot provided [RCV003017297]likely benign82301069623010696Humanname
156195251CV2175483single nucleotide variantNM_015178.3(RHOBTB2):c.1621-4C>Gnot provided [RCV003057971]likely benign82301053423010534Humanname
402490485CV2866688single nucleotide variantNM_015178.3(RHOBTB2):c.1772-8T>Anot provided [RCV003572964]uncertain significance82301468223014682Humanname
405212038CV2878585single nucleotide variantNM_015178.3(RHOBTB2):c.193-11C>Tnot provided [RCV003552738]likely benign82300536123005361Humanname
405130840CV2895198single nucleotide variantNM_015178.3(RHOBTB2):c.1966+7A>Gnot provided [RCV003559990]likely benign82301575023015750Humanname
405100367CV2938129single nucleotide variantNM_015178.3(RHOBTB2):c.193-19T>Cnot provided [RCV003665813]likely benign82300535323005353Humanname
405122751CV2954162single nucleotide variantNM_015178.3(RHOBTB2):c.1861-5C>Anot provided [RCV003667597]likely benign82301563323015633Humanname
405087528CV3167465single nucleotide variantNM_015178.3(RHOBTB2):c.297-17T>Cnot provided [RCV003852047]likely benign82300594323005943Humanname
405236652CV3169071single nucleotide variantNM_015178.3(RHOBTB2):c.1861-3C>Tnot provided [RCV003866350]benign82301563523015635Humanname
405000204CV3183921single nucleotide variantNM_015178.3(RHOBTB2):c.296+19C>Tnot provided [RCV003882504]likely benign82300549423005494Humanname
597948081CV3759076single nucleotide variantNM_015178.3(RHOBTB2):c.1620+7C>Gnot provided [RCV005078872]likely benign82300811823008118Humanname
597972792CV3790713single nucleotide variantNM_015178.3(RHOBTB2):c.1501+4T>Anot provided [RCV005142928]uncertain significance82300775023007750Humanname
597933862CV3810809single nucleotide variantNM_015178.3(RHOBTB2):c.-10-13T>Cnot provided [RCV005157518]likely benign82300441223004412Humanname
597849204CV3824403single nucleotide variantNM_015178.3(RHOBTB2):c.1966+1G>Cnot provided [RCV005173442]uncertain significance82301574423015744Humanname
598127061CV3882441single nucleotide variantNM_015178.3(RHOBTB2):c.1861-2A>Gnot provided [RCV005233993]uncertain significance82301563623015636Humanname
150463053CV1214732single nucleotide variantNM_015178.3(RHOBTB2):c.296+203C>Tnot provided [RCV001613725]benign82300567823005678Humanname
150434993CV1231231single nucleotide variantNM_015178.3(RHOBTB2):c.1620+21G>Cnot provided [RCV001643876]benign82300813223008132Humanname
150465185CV1252840single nucleotide variantNM_015178.3(RHOBTB2):c.1861-44C>Anot provided [RCV001670164]benign82301559423015594Humanname
150441261CV1265754single nucleotide variantNM_015178.3(RHOBTB2):c.1501+61T>Gnot provided [RCV001690479]benign82300780723007807Humanname
150491351CV1267762single nucleotide variantNM_015178.3(RHOBTB2):c.1771+53C>Gnot provided [RCV001687787]benign82301074123010741Humanname
150479038CV1273399single nucleotide variantNM_015178.3(RHOBTB2):c.193-122T>Cnot provided [RCV001696602]benign82300525023005250Humanname
152046737CV1527197single nucleotide variantNM_015178.3(RHOBTB2):c.1772-13G>Anot provided [RCV002166359]benign82301467723014677Humanname
152152743CV1529716single nucleotide variantNM_015178.3(RHOBTB2):c.1861-12T>Gnot provided [RCV002202228]likely benign82301562623015626Humanname
152113551CV1586122single nucleotide variantNM_015178.3(RHOBTB2):c.1771+19C>Tnot provided [RCV002153369]likely benign82301070723010707Humanname
152146075CV1599901single nucleotide variantNM_015178.3(RHOBTB2):c.1966+19C>Anot provided [RCV002138822]likely benign82301576223015762Humanname
152112218CV1604122deletionNM_015178.3(RHOBTB2):c.1860+15delnot provided [RCV002097006]benign82301479023014790Humanname
152147252CV1608157single nucleotide variantNM_015178.3(RHOBTB2):c.1501+14T>Cnot provided [RCV002178911]likely benign82300776023007760Humanname
152074670CV1630295single nucleotide variantNM_015178.3(RHOBTB2):c.1621-13C>Gnot provided [RCV002169746]likely benign82301052523010525Humanname
152079637CV1632473single nucleotide variantNM_015178.3(RHOBTB2):c.1501+20A>Gnot provided [RCV002130666]likely benign82300776623007766Humanname
152127199CV1642034single nucleotide variantNM_015178.3(RHOBTB2):c.1771+20G>Anot provided [RCV002176325]likely benign82301070823010708Humanname
152028221CV1655134single nucleotide variantNM_015178.3(RHOBTB2):c.1966+10G>Anot provided [RCV002105160]likely benign82301575323015753Humanname
156052627CV1974430single nucleotide variantNM_015178.3(RHOBTB2):c.1771+11A>Gnot provided [RCV002590709]likely benign82301069923010699Humanname
155907982CV1979890single nucleotide variantNM_015178.3(RHOBTB2):c.1501+20A>Tnot provided [RCV002613785]likely benign82300776623007766Humanname
156388641CV1996019single nucleotide variantNM_015178.3(RHOBTB2):c.1772-14C>Tnot provided [RCV002654184]likely benign82301467623014676Humanname
156221451CV2067910single nucleotide variantNM_015178.3(RHOBTB2):c.1772-10T>Gnot provided [RCV002829700]uncertain significance82301468023014680Humanname
156225030CV2081059single nucleotide variantNM_015178.3(RHOBTB2):c.1501+17G>Anot provided [RCV002853356]likely benign82300776323007763Humanname
155903596CV2084001single nucleotide variantNM_015178.3(RHOBTB2):c.1861-11T>Cnot provided [RCV002858011]likely benign82301562723015627Humanname
156197016CV2159035single nucleotide variantNM_015178.3(RHOBTB2):c.1502-18G>Cnot provided [RCV003041840]likely benign82300797523007975Humanname
405233253CV2985562single nucleotide variantNM_015178.3(RHOBTB2):c.1501+16G>Anot provided [RCV003711864]likely benign82300776223007762Humanname
405171374CV3122558single nucleotide variantNM_015178.3(RHOBTB2):c.1501+12G>Anot provided [RCV003819147]likely benign82300775823007758Humanname
405038835CV3130928single nucleotide variantNM_015178.3(RHOBTB2):c.1861-13C>Tnot provided [RCV003831146]likely benign82301562523015625Humanname
405189919CV3156702single nucleotide variantNM_015178.3(RHOBTB2):c.1502-15G>Anot provided [RCV003859580]likely benign82300797823007978Humanname
405222407CV3158261single nucleotide variantNM_015178.3(RHOBTB2):c.1772-13G>Tnot provided [RCV003863757]likely benign82301467723014677Humanname
405196123CV3168112single nucleotide variantNM_015178.3(RHOBTB2):c.1621-14C>Tnot provided [RCV003860244]likely benign82301052423010524Humanname
597948654CV3818370single nucleotide variantNM_015178.3(RHOBTB2):c.1620+14C>Tnot provided [RCV005160631]likely benign82300812523008125Humanname
597863035CV3822753single nucleotide variantNM_015178.3(RHOBTB2):c.1620+20G>Anot provided [RCV005175285]likely benign82300813123008131Humanname
597909721CV3830088single nucleotide variantNM_015178.3(RHOBTB2):c.1620+20G>Tnot provided [RCV005182658]likely benign82300813123008131Humanname
150507510CV1226610single nucleotide variantNM_015178.3(RHOBTB2):c.1861-147G>Anot provided [RCV001635978]benign82301549123015491Humanname
150509156CV1229820single nucleotide variantNM_015178.3(RHOBTB2):c.1967-134C>Tnot provided [RCV001636399]benign82301711823017118Humanname
150467182CV1255863single nucleotide variantNM_015178.3(RHOBTB2):c.1772-146G>Tnot provided [RCV001670497]benign82301454423014544Humanname
401904925CV2820958single nucleotide variantNM_001160036.2(RHOBTB2):c.-23-3C>Tnot provided [RCV003436799]benign82299455822994558Humanname
150511563CV1284725single nucleotide variantNM_001160036.2(RHOBTB2):c.-23-31C>Tnot provided [RCV001721594]benign82299453022994530Humanname
150443505CV1234171single nucleotide variantNM_001160036.2(RHOBTB2):c.56+1070C>Gnot provided [RCV001645560]benign82299570922995709Humanname
597699020CV3586562single nucleotide variantNM_001160036.2(RHOBTB2):c.56+1243G>AInborn genetic diseases [RCV004960110]likely benign82299588222995882Human1name
598242773CV3894324single nucleotide variantNM_001160036.2(RHOBTB2):c.56+2442A>Gnot provided [RCV005257567]likely benign82299708122997081Humanname
8652163CV128738single nucleotide variantNM_001242359.1(RHOBTB1):c.297-2250C>TLung cancer [RCV000109225]uncertain significance106089524560895245Humanname
8652164CV128739single nucleotide variantNM_001242359.1(RHOBTB1):c.-11+11318C>TLung cancer [RCV000109226]uncertain significance106092489560924895Humanname
405145728CV3122710microsatelliteNM_015178.3(RHOBTB2):c.1502-9_1502-7delnot provided [RCV003817132]likely benign82300797923007981Humanname
152045453CV1556127deletionNM_015178.3(RHOBTB2):c.1620+18_1620+19delnot provided [RCV002206873]likely benign82300812823008129Humanname
152153733CV1626214deletionNM_015178.3(RHOBTB2):c.1966+19_1966+27delnot provided [RCV002139896]likely benign82301575823015766Humanname
405223447CV3035762indelNM_015178.3(RHOBTB2):c.296+15_296+16delinsCGnot provided [RCV003710310]uncertain significance82300549023005491Humanname
126734491CV1000621single nucleotide variantNM_015178.3(RHOBTB2):c.396A>T (p.Arg132=)RHOBTB2-related disorder [RCV003938619]|not provided [RCV001311321]likely benign82300605923006059Human1name , trait , alternate_id
126734500CV1000623single nucleotide variantNM_015178.3(RHOBTB2):c.830G>A (p.Arg277His)Inborn genetic diseases [RCV002543574]|RHOBTB2-related disorder [RCV003918848]|not provided [RCV001311323]likely benign82300707523007075Human2name , trait , alternate_id
127260264CV1096940single nucleotide variantNM_015178.3(RHOBTB2):c.734T>C (p.Val245Ala)Inborn genetic diseases [RCV002555554]|RHOBTB2-related disorder [RCV003908644]|not provided [RCV001438536]benign|likely benign82300697923006979Human2name , trait , alternate_id
127314305CV1155945single nucleotide variantNM_015178.3(RHOBTB2):c.168C>T (p.Ile56=)RHOBTB2-related disorder [RCV003921150]|not provided [RCV001519564]benign82300460223004602Human1name , trait , alternate_id
150443465CV1234165single nucleotide variantNM_015178.3(RHOBTB2):c.2094A>G (p.Lys698=)RHOBTB2-related disorder [RCV003921295]|not provided [RCV001645554]benign82301737923017379Human1name , trait , alternate_id
151823910CV1349450single nucleotide variantNM_015178.3(RHOBTB2):c.1834G>A (p.Val612Ile)Developmental and epileptic encephalopathy, 64 [RCV003339844]|Inborn genetic diseases [RCV004656764]|RHOBTB2-related disorder [RCV003401932]|not provided [RCV001934416]uncertain significance82301475223014752Human2name , trait , alternate_id
151843986CV1381305single nucleotide variantNM_015178.3(RHOBTB2):c.802G>A (p.Val268Ile)RHOBTB2-related disorder [RCV003892924]|not provided [RCV001881706]benign|uncertain significance82300704723007047Human1name , trait , alternate_id
151767509CV1415111single nucleotide variantNM_015178.3(RHOBTB2):c.1007G>A (p.Arg336Gln)Inborn genetic diseases [RCV005271524]|RHOBTB2-related disorder [RCV004749787]|not provided [RCV001929195]benign|likely benign|uncertain significance82300725223007252Human2name , trait , alternate_id
152076892CV1531235single nucleotide variantNM_015178.3(RHOBTB2):c.926C>T (p.Ser309Leu)Inborn genetic diseases [RCV003089087]|RHOBTB2-related disorder [RCV003926315]|not provided [RCV002210718]likely benign82300717123007171Human2name , trait , alternate_id
152095816CV1559620single nucleotide variantNM_015178.3(RHOBTB2):c.1640G>A (p.Ser547Asn)RHOBTB2-related disorder [RCV003978580]|not provided [RCV002213343]benign|likely benign82301055723010557Human1name , trait , alternate_id
152132281CV1585053single nucleotide variantNM_015178.3(RHOBTB2):c.1681G>A (p.Gly561Ser)Developmental and epileptic encephalopathy, 64 [RCV003483881]|RHOBTB2-related disorder [RCV003426307]|not provided [RCV002083025]likely benign|uncertain significance|not provided82301059823010598Human1name , trait , alternate_id
152142034CV1588718single nucleotide variantNM_015178.3(RHOBTB2):c.543G>A (p.Leu181=)RHOBTB2-related disorder [RCV004749878]|not provided [RCV002200700]likely benign82300678823006788Human1name , trait , alternate_id
152077008CV1592082single nucleotide variantNM_015178.3(RHOBTB2):c.2091C>G (p.Pro697=)RHOBTB2-related disorder [RCV003984187]|not provided [RCV002112242]likely benign82301737623017376Human1name , trait , alternate_id
152163408CV1600843single nucleotide variantNM_015178.3(RHOBTB2):c.1180G>A (p.Val394Met)RHOBTB2-related disorder [RCV003951271]|not provided [RCV002141319]benign82300742523007425Human1name , trait , alternate_id
152175213CV1602041single nucleotide variantNM_015178.3(RHOBTB2):c.1130G>C (p.Gly377Ala)RHOBTB2-related disorder [RCV003903564]|not provided [RCV002163421]likely benign82300737523007375Human1name , trait , alternate_id
152105606CV1609512single nucleotide variantNM_015178.3(RHOBTB2):c.2100T>C (p.Arg700=)RHOBTB2-related disorder [RCV003923640]|not provided [RCV002115896]benign|likely benign82301738523017385Human1name , trait , alternate_id
152162397CV1635737single nucleotide variantNM_015178.3(RHOBTB2):c.801C>T (p.Asp267=)RHOBTB2-related disorder [RCV004729103]|not provided [RCV002203663]likely benign82300704623007046Human1name , trait , alternate_id
152175092CV1637518single nucleotide variantNM_015178.3(RHOBTB2):c.1790G>C (p.Gly597Ala)Inborn genetic diseases [RCV004046358]|RHOBTB2-related disorder [RCV004749861]|not provided [RCV002144664]benign|likely benign82301470823014708Human2name , trait , alternate_id
152040773CV1649258single nucleotide variantNM_015178.3(RHOBTB2):c.558T>C (p.Tyr186=)RHOBTB2-related disorder [RCV003896068]|not provided [RCV002206311]likely benign82300680323006803Human1name , trait , alternate_id
156444163CV1937687single nucleotide variantNM_015178.3(RHOBTB2):c.853C>G (p.Leu285Val)RHOBTB2-related disorder [RCV003900945]|not provided [RCV003115084]benign|uncertain significance82300709823007098Human1name , trait , alternate_id
401880622CV2792912single nucleotide variantNM_015178.3(RHOBTB2):c.1450G>A (p.Val484Ile)Inborn genetic diseases [RCV003385063]|RHOBTB2-related disorder [RCV003420681]|not provided [RCV003436036]uncertain significance82300769523007695Human2name , trait , alternate_id
401914011CV2799174single nucleotide variantNM_015178.3(RHOBTB2):c.1954G>T (p.Ala652Ser)RHOBTB2-related disorder [RCV003400316]uncertain significance82301573123015731Humanname , trait , alternate_id
401920767CV2801954single nucleotide variantNM_015178.3(RHOBTB2):c.2171C>T (p.Ser724Leu)RHOBTB2-related disorder [RCV003402736]|not provided [RCV003732577]uncertain significance82301745623017456Human1name , trait , alternate_id
401921284CV2804473single nucleotide variantNM_015178.3(RHOBTB2):c.1357G>C (p.Glu453Gln)RHOBTB2-related disorder [RCV003402886]uncertain significance82300760223007602Humanname , trait , alternate_id
401904922CV2820959single nucleotide variantNM_001160037.2(RHOBTB2):c.9G>A (p.Ala3=)RHOBTB2-related disorder [RCV003919223]|not provided [RCV003436800]likely benign82299588022995880Human1name , trait , alternate_id
405126762CV3017367single nucleotide variantNM_015178.3(RHOBTB2):c.293G>A (p.Gly98Glu)RHOBTB2-related disorder [RCV003901269]|not provided [RCV003701287]pathogenic|uncertain significance82300547223005472Human1name , trait , alternate_id
405192080CV3070073single nucleotide variantNM_015178.3(RHOBTB2):c.1088G>A (p.Arg363His)RHOBTB2-related disorder [RCV003966649]|not provided [RCV003729817]benign|uncertain significance82300733323007333Human1name , trait , alternate_id
405289901CV3219191single nucleotide variantNM_015178.3(RHOBTB2):c.2034C>G (p.Tyr678Ter)Developmental and epileptic encephalopathy, 64 [RCV004759342]|RHOBTB2-related disorder [RCV003962073]uncertain significance82301731923017319Human1name , trait , alternate_id
405278732CV3220197single nucleotide variantNM_001160037.2(RHOBTB2):c.8C>A (p.Ala3Glu)RHOBTB2-related disorder [RCV003969454]likely benign82299587922995879Humanname , trait , alternate_id
15196083CV723007single nucleotide variantNM_015178.3(RHOBTB2):c.999C>T (p.His333=)RHOBTB2-related disorder [RCV003975609]|not provided [RCV000889681]benign82300724423007244Human1name , trait , alternate_id
152128532CV1584146single nucleotide variantNM_015178.3(RHOBTB2):c.12C>T (p.Asp4=)not provided [RCV002082547]likely benign82300444623004446Humanname
152049055CV1627655single nucleotide variantNM_015178.3(RHOBTB2):c.69C>T (p.Asn23=)not provided [RCV002108713]likely benign82300450323004503Humanname
156139514CV2044405single nucleotide variantNM_015178.3(RHOBTB2):c.72C>T (p.Ala24=)not provided [RCV002800899]likely benign82300450623004506Humanname
156139544CV2044406single nucleotide variantNM_015178.3(RHOBTB2):c.78T>C (p.Gly26=)not provided [RCV002800900]likely benign82300451223004512Humanname
405233098CV2965434single nucleotide variantNM_015178.3(RHOBTB2):c.1A>G (p.Met1Val)not provided [RCV003682583]uncertain significance82300443523004435Humanname
405243669CV2971677single nucleotide variantNM_015178.3(RHOBTB2):c.36A>G (p.Val12=)not provided [RCV003684646]likely benign82300447023004470Humanname
405208716CV3037244single nucleotide variantNM_015178.3(RHOBTB2):c.33C>T (p.Asn11=)not provided [RCV003708350]likely benign82300446723004467Humanname
597893068CV3749413single nucleotide variantNM_015178.3(RHOBTB2):c.51C>T (p.Cys17=)not provided [RCV005071197]likely benign82300448523004485Humanname
597892441CV3785329single nucleotide variantNM_015178.3(RHOBTB2):c.93C>A (p.Ile31=)not provided [RCV005125915]likely benign82300452723004527Humanname
15149915CV711450single nucleotide variantNM_015178.3(RHOBTB2):c.90C>A (p.Leu30=)not provided [RCV000967843]benign82300452423004524Humanname
152154624CV1556459single nucleotide variantNM_015178.3(RHOBTB2):c.228C>T (p.Val76=)not provided [RCV002122242]likely benign82300540723005407Humanname
152041159CV1558146single nucleotide variantNM_015178.3(RHOBTB2):c.102C>T (p.Arg34=)not provided [RCV002126111]likely benign82300453623004536Humanname
152117351CV1566574single nucleotide variantNM_015178.3(RHOBTB2):c.174A>G (p.Gln58=)not provided [RCV002153821]likely benign82300460823004608Humanname
152069317CV1566846single nucleotide variantNM_015178.3(RHOBTB2):c.225T>C (p.Asp75=)not provided [RCV002111232]likely benign82300540423005404Humanname
152035763CV1590476single nucleotide variantNM_015178.3(RHOBTB2):c.231C>T (p.Ser77=)not provided [RCV002205548]likely benign82300541023005410Humanname
152093020CV1598598single nucleotide variantNM_015178.3(RHOBTB2):c.123C>A (p.Thr41=)not provided [RCV002172081]likely benign82300455723004557Humanname
152164760CV1625567single nucleotide variantNM_015178.3(RHOBTB2):c.180T>C (p.Arg60=)not provided [RCV002160314]likely benign82300461423004614Humanname
152028479CV1642810single nucleotide variantNM_015178.3(RHOBTB2):c.120C>A (p.Leu40=)not provided [RCV002185851]likely benign82300455423004554Humanname
156087825CV1899086single nucleotide variantNM_015178.3(RHOBTB2):c.144G>A (p.Thr48=)not provided [RCV003080099]likely benign82300457823004578Humanname
156370062CV1920097single nucleotide variantNM_015178.3(RHOBTB2):c.285T>C (p.Phe95=)not provided [RCV002603101]likely benign82300546423005464Humanname
155907996CV2077507single nucleotide variantNM_015178.3(RHOBTB2):c.216G>A (p.Val72=)not provided [RCV002858275]likely benign82300539523005395Humanname
156145553CV2160475single nucleotide variantNM_015178.3(RHOBTB2):c.216G>T (p.Val72=)not provided [RCV003022672]likely benign82300539523005395Humanname
402479021CV2924896single nucleotide variantNM_015178.3(RHOBTB2):c.207C>T (p.Ser69=)not provided [RCV003571870]likely benign82300538623005386Humanname
405084947CV3028297single nucleotide variantNM_015178.3(RHOBTB2):c.123C>T (p.Thr41=)not provided [RCV003699333]likely benign82300455723004557Humanname
405085730CV3137737single nucleotide variantNM_015178.3(RHOBTB2):c.282C>T (p.Arg94=)not provided [RCV003834446]likely benign82300546123005461Humanname
405131240CV3163697single nucleotide variantNM_015178.3(RHOBTB2):c.120C>T (p.Leu40=)not provided [RCV003854685]likely benign82300455423004554Humanname
405213640CV3169898single nucleotide variantNM_015178.3(RHOBTB2):c.13A>G (p.Met5Val)not provided [RCV003862502]uncertain significance82300444723004447Humanname
597851697CV3737560single nucleotide variantNM_015178.3(RHOBTB2):c.126G>A (p.Gln42=)not provided [RCV005066333]likely benign82300456023004560Humanname
597941063CV3785705single nucleotide variantNM_015178.3(RHOBTB2):c.243C>T (p.Arg81=)not provided [RCV005133597]likely benign82300542223005422Humanname
597968654CV3791023single nucleotide variantNM_015178.3(RHOBTB2):c.234C>A (p.Val78=)not provided [RCV005141055]likely benign82300541323005413Humanname
597906851CV3804111single nucleotide variantNM_015178.3(RHOBTB2):c.195G>A (p.Val65=)not provided [RCV005153657]benign82300537423005374Humanname
15112606CV751078single nucleotide variantNM_015178.3(RHOBTB2):c.234C>G (p.Val78=)not provided [RCV000916943]likely benign82300541323005413Humanname
126736823CV1017032single nucleotide variantNM_015178.3(RHOBTB2):c.56T>C (p.Val19Ala)Developmental and epileptic encephalopathy, 64 [RCV001328623]uncertain significance82300449023004490Human1name
150337416CV1165869single nucleotide variantNM_015178.3(RHOBTB2):c.591G>A (p.Lys197=)not provided [RCV001532610]likely benign82300683623006836Humanname
150437036CV1235511single nucleotide variantNM_015178.3(RHOBTB2):c.864T>C (p.Ser288=)Developmental and epileptic encephalopathy, 64 [RCV001796646]|not provided [RCV001644297]benign82300710923007109Human1name
150551779CV1297568single nucleotide variantNM_015178.3(RHOBTB2):c.47A>G (p.Lys16Arg)not provided [RCV001767252]uncertain significance82300448123004481Humanname
151858099CV1363989single nucleotide variantNM_015178.3(RHOBTB2):c.798G>A (p.Ala266=)not provided [RCV001904942]likely benign|uncertain significance82300704323007043Humanname
151803324CV1364706single nucleotide variantNM_015178.3(RHOBTB2):c.34G>A (p.Val12Ile)not provided [RCV001991151]uncertain significance82300446823004468Humanname
151794100CV1390405single nucleotide variantNM_015178.3(RHOBTB2):c.939C>T (p.Gly313=)not provided [RCV001952320]likely benign|uncertain significance82300718423007184Humanname
151814284CV1460567single nucleotide variantNM_015178.3(RHOBTB2):c.546C>T (p.Gly182=)not provided [RCV001878582]likely benign|uncertain significance82300679123006791Humanname
152123892CV1527586single nucleotide variantNM_015178.3(RHOBTB2):c.987T>C (p.His329=)not provided [RCV002081944]likely benign82300723223007232Humanname
152051287CV1538609single nucleotide variantNM_015178.3(RHOBTB2):c.861C>T (p.Thr287=)not provided [RCV002189447]likely benign82300710623007106Humanname
152103185CV1548529single nucleotide variantNM_015178.3(RHOBTB2):c.774C>T (p.His258=)not provided [RCV002079252]likely benign82300701923007019Humanname
152071740CV1552181single nucleotide variantNM_015178.3(RHOBTB2):c.795C>T (p.Cys265=)not provided [RCV002148177]benign|likely benign82300704023007040Humanname
152074031CV1556771single nucleotide variantNM_015178.3(RHOBTB2):c.669T>C (p.Asn223=)not provided [RCV002111849]likely benign82300691423006914Humanname
152121755CV1562557single nucleotide variantNM_015178.3(RHOBTB2):c.606C>T (p.Asn202=)not provided [RCV002098250]likely benign82300685123006851Humanname
152123819CV1563914single nucleotide variantNM_015178.3(RHOBTB2):c.978C>T (p.His326=)not provided [RCV002175931]likely benign82300722323007223Humanname
152083524CV1569481single nucleotide variantNM_015178.3(RHOBTB2):c.516G>A (p.Glu172=)not provided [RCV002113079]likely benign82300676123006761Humanname
152167259CV1577400single nucleotide variantNM_015178.3(RHOBTB2):c.897C>T (p.Asp299=)not provided [RCV002204661]likely benign82300714223007142Humanname
152035396CV1583068single nucleotide variantNM_015178.3(RHOBTB2):c.342C>G (p.Ser114=)not provided [RCV002106898]likely benign82300600523006005Humanname
152065913CV1583571single nucleotide variantNM_015178.3(RHOBTB2):c.615A>T (p.Arg205=)not provided [RCV002110788]benign82300686023006860Humanname
152072887CV1597985single nucleotide variantNM_015178.3(RHOBTB2):c.417C>A (p.Gly139=)not provided [RCV002169524]likely benign82300608023006080Humanname
152172030CV1598946single nucleotide variantNM_015178.3(RHOBTB2):c.729C>T (p.Ile243=)not provided [RCV002143639]benign82300697423006974Humanname
152174646CV1602219single nucleotide variantNM_015178.3(RHOBTB2):c.990C>T (p.His330=)not provided [RCV002144506]likely benign82300723523007235Humanname
152099822CV1627333single nucleotide variantNM_015178.3(RHOBTB2):c.870C>T (p.Ser290=)not provided [RCV002095373]likely benign82300711523007115Humanname
152114467CV1628060single nucleotide variantNM_015178.3(RHOBTB2):c.336C>G (p.Pro112=)not provided [RCV002197214]likely benign82300599923005999Humanname
152093015CV1631895single nucleotide variantNM_015178.3(RHOBTB2):c.789G>A (p.Pro263=)not provided [RCV002132280]benign82300703423007034Humanname
152074263CV1635221single nucleotide variantNM_015178.3(RHOBTB2):c.738C>T (p.Pro246=)not provided [RCV002092011]likely benign82300698323006983Humanname
152035640CV1635932single nucleotide variantNM_015178.3(RHOBTB2):c.621A>T (p.Ala207=)not provided [RCV002106931]likely benign82300686623006866Humanname
152027396CV1636235single nucleotide variantNM_015178.3(RHOBTB2):c.924C>T (p.Pro308=)not provided [RCV002085117]likely benign82300716923007169Humanname
152167533CV1644723single nucleotide variantNM_015178.3(RHOBTB2):c.309G>A (p.Val103=)not provided [RCV002142185]likely benign82300597223005972Humanname
152115979CV1646426single nucleotide variantNM_015178.3(RHOBTB2):c.441T>C (p.Ala147=)not provided [RCV002135100]likely benign82300610423006104Humanname
152126492CV1665932single nucleotide variantNM_015178.3(RHOBTB2):c.858C>T (p.Ser286=)not provided [RCV002198745]likely benign82300710323007103Humanname
156361720CV1900586single nucleotide variantNM_015178.3(RHOBTB2):c.414G>A (p.Val138=)not provided [RCV002581770]uncertain significance82300607723006077Humanname
156408211CV1911513single nucleotide variantNM_015178.3(RHOBTB2):c.424T>C (p.Leu142=)not provided [RCV002607156]likely benign82300608723006087Humanname
156156628CV1926250single nucleotide variantNM_015178.3(RHOBTB2):c.523C>A (p.Arg175=)not provided [RCV002624205]likely benign82300676823006768Humanname
156081689CV1982859single nucleotide variantNM_015178.3(RHOBTB2):c.624C>T (p.Leu208=)not provided [RCV002638920]likely benign82300686923006869Humanname
156338539CV1984645single nucleotide variantNM_015178.3(RHOBTB2):c.927G>A (p.Ser309=)not provided [RCV002631310]likely benign82300717223007172Humanname
156348167CV1989240single nucleotide variantNM_015178.3(RHOBTB2):c.702A>C (p.Leu234=)not provided [RCV002631789]likely benign82300694723006947Humanname
156106653CV1992317single nucleotide variantNM_015178.3(RHOBTB2):c.855C>T (p.Leu285=)not provided [RCV002622412]likely benign82300710023007100Humanname
155947990CV1996544single nucleotide variantNM_015178.3(RHOBTB2):c.753C>T (p.Ser251=)not provided [RCV002685856]likely benign82300699823006998Humanname
156172364CV2003838single nucleotide variantNM_015178.3(RHOBTB2):c.360C>T (p.Thr120=)not provided [RCV002642757]likely benign82300602323006023Humanname
156374875CV2049251single nucleotide variantNM_015178.3(RHOBTB2):c.73G>A (p.Val25Met)Inborn genetic diseases [RCV004661479]|not provided [RCV002814608]likely benign|uncertain significance82300450723004507Human1name
156210995CV2074236single nucleotide variantNM_015178.3(RHOBTB2):c.430C>T (p.Leu144=)not provided [RCV002829296]likely benign82300609323006093Humanname
155994208CV2145786single nucleotide variantNM_015178.3(RHOBTB2):c.819G>A (p.Gln273=)not provided [RCV002996711]likely benign82300706423007064Humanname
156242772CV2148763single nucleotide variantNM_015178.3(RHOBTB2):c.750C>T (p.Ser250=)not provided [RCV003008160]likely benign82300699523006995Humanname
155935902CV2149895single nucleotide variantNM_015178.3(RHOBTB2):c.393C>T (p.Pro131=)not provided [RCV003013936]likely benign82300605623006056Humanname
156318740CV2155224single nucleotide variantNM_015178.3(RHOBTB2):c.823C>A (p.Arg275=)not provided [RCV003011553]likely benign82300706823007068Humanname
156109575CV2177259single nucleotide variantNM_015178.3(RHOBTB2):c.71C>T (p.Ala24Val)not provided [RCV003055036]benign|uncertain significance82300450523004505Humanname
156132857CV2181327single nucleotide variantNM_015178.3(RHOBTB2):c.957C>T (p.His319=)not provided [RCV003039762]likely benign82300720223007202Humanname
156133694CV2181379single nucleotide variantNM_015178.3(RHOBTB2):c.423G>A (p.Gln141=)not provided [RCV003039789]likely benign82300608623006086Humanname
243050708CV2419691deletionNM_015178.3(RHOBTB2):c.294del (p.Arg99fs)not provided [RCV003156623]uncertain significance82300547123005471Humanname
401894991CV2792658single nucleotide variantNM_014836.5(RHOBTB1):c.43A>C (p.Ile15Leu)not specified [RCV004365446]uncertain significance106091150060911500Humanname
401925718CV2820960single nucleotide variantNM_015178.3(RHOBTB2):c.861C>G (p.Thr287=)not provided [RCV003436801]likely benign82300710623007106Humanname
405128400CV2893311single nucleotide variantNM_015178.3(RHOBTB2):c.621A>G (p.Ala207=)not provided [RCV003559800]likely benign82300686623006866Humanname
405111059CV2903003single nucleotide variantNM_015178.3(RHOBTB2):c.786C>T (p.Asp262=)not provided [RCV003557900]likely benign82300703123007031Humanname
405074582CV2941268single nucleotide variantNM_015178.3(RHOBTB2):c.582C>T (p.Phe194=)not provided [RCV003664138]likely benign82300682723006827Humanname
405067743CV2944619single nucleotide variantNM_015178.3(RHOBTB2):c.507G>C (p.Leu169=)not provided [RCV003663792]uncertain significance82300675223006752Humanname
402499371CV2946874single nucleotide variantNM_015178.3(RHOBTB2):c.52G>A (p.Val18Ile)not provided [RCV003661446]uncertain significance82300448623004486Humanname
405220691CV2965948single nucleotide variantNM_015178.3(RHOBTB2):c.597C>T (p.Val199=)not provided [RCV003680634]likely benign82300684223006842Humanname
405010590CV2987005single nucleotide variantNM_015178.3(RHOBTB2):c.930G>A (p.Glu310=)not provided [RCV003693886]likely benign82300717523007175Humanname
405206495CV2994272single nucleotide variantNM_015178.3(RHOBTB2):c.573G>A (p.Val191=)not provided [RCV003678803]likely benign82300681823006818Humanname
402511460CV2994991single nucleotide variantNM_015178.3(RHOBTB2):c.80A>G (p.Lys27Arg)not provided [RCV003689591]uncertain significance82300451423004514Humanname
405015493CV2995293single nucleotide variantNM_015178.3(RHOBTB2):c.778C>T (p.Leu260=)not provided [RCV003694354]likely benign82300702323007023Humanname
402518703CV3002289single nucleotide variantNM_015178.3(RHOBTB2):c.91A>G (p.Ile31Val)not provided [RCV003690126]uncertain significance82300452523004525Humanname
405024622CV3002912single nucleotide variantNM_015178.3(RHOBTB2):c.789G>C (p.Pro263=)not provided [RCV003695042]likely benign82300703423007034Humanname
405240843CV3003531single nucleotide variantNM_015178.3(RHOBTB2):c.780G>A (p.Leu260=)not provided [RCV003719077]likely benign82300702523007025Humanname
402501662CV3035393single nucleotide variantNM_015178.3(RHOBTB2):c.630C>T (p.Ser210=)not provided [RCV003714736]likely benign82300687523006875Humanname
405190199CV3117993single nucleotide variantNM_015178.3(RHOBTB2):c.921C>A (p.Gly307=)not provided [RCV003820903]likely benign82300716623007166Humanname
405068251CV3140150single nucleotide variantNM_015178.3(RHOBTB2):c.879T>C (p.Tyr293=)not provided [RCV003833305]likely benign82300712423007124Humanname
405175664CV3152274single nucleotide variantNM_015178.3(RHOBTB2):c.475T>C (p.Leu159=)not provided [RCV003858229]likely benign82300613823006138Humanname
405219168CV3161309single nucleotide variantNM_015178.3(RHOBTB2):c.420C>T (p.Cys140=)not provided [RCV003863178]likely benign82300608323006083Humanname
405226240CV3169383single nucleotide variantNM_015178.3(RHOBTB2):c.723G>A (p.Pro241=)not provided [RCV003864407]likely benign82300696823006968Humanname
404990706CV3176182single nucleotide variantNM_015178.3(RHOBTB2):c.594C>T (p.Asp198=)not provided [RCV003881507]likely benign82300683923006839Humanname
405734189CV3309412single nucleotide variantNM_014836.5(RHOBTB1):c.53T>C (p.Val18Ala)not specified [RCV004451418]uncertain significance106091149060911490Humanname
597776206CV3586559single nucleotide variantNM_014836.5(RHOBTB1):c.34G>A (p.Val12Ile)not specified [RCV004852454]uncertain significance106091150960911509Humanname
597686518CV3586573single nucleotide variantNM_014899.4(RHOBTB3):c.80C>T (p.Thr27Ile)not specified [RCV004852460]uncertain significance59573193695731936Humanname
597932124CV3742613single nucleotide variantNM_015178.3(RHOBTB2):c.708C>A (p.Pro236=)not provided [RCV005076052]likely benign82300695323006953Humanname
597830966CV3743722single nucleotide variantNM_015178.3(RHOBTB2):c.756C>T (p.Ser252=)not provided [RCV005062539]likely benign82300700123007001Humanname
597928890CV3749192single nucleotide variantNM_015178.3(RHOBTB2):c.906G>A (p.Glu302=)not provided [RCV005075648]likely benign82300715123007151Humanname
597941678CV3757442single nucleotide variantNM_015178.3(RHOBTB2):c.70G>A (p.Ala24Thr)not provided [RCV005077628]uncertain significance82300450423004504Humanname
597956042CV3809609single nucleotide variantNM_015178.3(RHOBTB2):c.351T>C (p.His117=)not provided [RCV005162335]likely benign82300601423006014Humanname
597845031CV3827555single nucleotide variantNM_015178.3(RHOBTB2):c.510C>G (p.Pro170=)not provided [RCV005172826]likely benign82300675523006755Humanname
597956451CV3838220single nucleotide variantNM_015178.3(RHOBTB2):c.417C>T (p.Gly139=)not provided [RCV005191595]likely benign82300608023006080Humanname
597871181CV3849282single nucleotide variantNM_015178.3(RHOBTB2):c.567C>T (p.Ser189=)not provided [RCV005197463]likely benign82300681223006812Humanname
598190172CV3902718single nucleotide variantNM_014899.4(RHOBTB3):c.83A>T (p.Tyr28Phe)not specified [RCV005266813]uncertain significance59573193995731939Humanname
15130336CV711451single nucleotide variantNM_015178.3(RHOBTB2):c.438C>T (p.Tyr146=)not provided [RCV000964418]benign82300610123006101Humanname
15149923CV711452single nucleotide variantNM_015178.3(RHOBTB2):c.717G>A (p.Pro239=)not provided [RCV000967844]benign82300696223006962Humanname
15190938CV723006single nucleotide variantNM_015178.3(RHOBTB2):c.768C>T (p.Pro256=)not provided [RCV000888239]benign82300701323007013Humanname
15120569CV783077single nucleotide variantNM_015178.3(RHOBTB2):c.792C>A (p.Leu264=)not provided [RCV000979311]likely benign82300703723007037Humanname
8626060CV81204single nucleotide variantNM_014899.3(RHOBTB3):c.816C>T (p.Ile272=)Malignant melanoma [RCV000061282]not provided59575552995755529Humanname
126746459CV1015409single nucleotide variantNM_015178.3(RHOBTB2):c.208C>T (p.Arg70Ter)Developmental and epileptic encephalopathy, 64 [RCV001328473]|not provided [RCV003438742]uncertain significance82300538723005387Human1name
150550286CV1302734single nucleotide variantNM_015178.3(RHOBTB2):c.218T>C (p.Val73Ala)not provided [RCV001752856]uncertain significance82300539723005397Humanname
151759159CV1340641single nucleotide variantNM_015178.3(RHOBTB2):c.143C>T (p.Thr48Met)not provided [RCV001913775]likely benign|uncertain significance82300457723004577Humanname
151727395CV1408227single nucleotide variantNM_015178.3(RHOBTB2):c.1680C>T (p.Thr560=)not provided [RCV001891895]likely benign82301059723010597Humanname
151812406CV1417597deletionNM_015178.3(RHOBTB2):c.723del (p.Ile242fs)not provided [RCV002029099]uncertain significance82300696823006968Humanname
151848875CV1439930deletionNM_015178.3(RHOBTB2):c.920del (p.Gly307fs)not provided [RCV002016307]uncertain significance82300716023007160Humanname
151888233CV1502023single nucleotide variantNM_015178.3(RHOBTB2):c.242G>A (p.Arg81His)Inborn genetic diseases [RCV005271421]|not provided [RCV001942547]uncertain significance82300542123005421Human1name
151828577CV1510171single nucleotide variantNM_015178.3(RHOBTB2):c.179G>A (p.Arg60His)not provided [RCV001920266]likely benign|uncertain significance82300461323004613Humanname
152053763CV1523772single nucleotide variantNM_015178.3(RHOBTB2):c.1692C>T (p.Thr564=)not provided [RCV002127533]likely benign82301060923010609Humanname
152065293CV1525948single nucleotide variantNM_015178.3(RHOBTB2):c.1140G>A (p.Pro380=)not provided [RCV002128888]likely benign82300738523007385Humanname
152175726CV1527124single nucleotide variantNM_015178.3(RHOBTB2):c.1347C>G (p.Ala449=)not provided [RCV002163862]benign82300759223007592Humanname
152052487CV1531651single nucleotide variantNM_015178.3(RHOBTB2):c.1135C>T (p.Leu379=)not provided [RCV002072551]likely benign82300738023007380Humanname
152176299CV1541422single nucleotide variantNM_015178.3(RHOBTB2):c.1737C>T (p.Asn579=)not provided [RCV002164444]likely benign82301065423010654Humanname
152088969CV1541471single nucleotide variantNM_015178.3(RHOBTB2):c.209G>A (p.Arg70Gln)not provided [RCV002171574]likely benign82300538823005388Humanname
152157130CV1541712single nucleotide variantNM_015178.3(RHOBTB2):c.1923C>T (p.Asn641=)not provided [RCV002103091]likely benign82301570023015700Humanname
152119692CV1547144single nucleotide variantNM_015178.3(RHOBTB2):c.1419C>T (p.Phe473=)not provided [RCV002154098]likely benign82300766423007664Humanname
152076327CV1551435single nucleotide variantNM_015178.3(RHOBTB2):c.1824C>T (p.Ile608=)not provided [RCV002192458]likely benign82301474223014742Humanname
152073135CV1551767single nucleotide variantNM_015178.3(RHOBTB2):c.1365C>T (p.Leu455=)not provided [RCV002075371]likely benign82300761023007610Humanname
152044073CV1552221single nucleotide variantNM_015178.3(RHOBTB2):c.1701C>T (p.Pro567=)not provided [RCV002166064]benign|likely benign82301061823010618Humanname
152054620CV1564332single nucleotide variantNM_015178.3(RHOBTB2):c.1773G>A (p.Glu591=)not provided [RCV002146081]likely benign82301469123014691Humanname
152130104CV1584423single nucleotide variantNM_015178.3(RHOBTB2):c.1524T>C (p.Asp508=)not provided [RCV002082748]likely benign82300801523008015Humanname
152050505CV1585741single nucleotide variantNM_015178.3(RHOBTB2):c.2139G>C (p.Ser713=)not provided [RCV002145631]likely benign82301742423017424Humanname
152028283CV1586829single nucleotide variantNM_015178.3(RHOBTB2):c.1305G>C (p.Thr435=)not provided [RCV002085414]likely benign82300755023007550Humanname
152106159CV1591622single nucleotide variantNM_015178.3(RHOBTB2):c.1071C>T (p.Ser357=)not provided [RCV002214838]likely benign82300731623007316Humanname
152093419CV1593445single nucleotide variantNM_015178.3(RHOBTB2):c.1659C>T (p.Ala553=)not provided [RCV002094507]likely benign82301057623010576Humanname
152126335CV1596223single nucleotide variantNM_015178.3(RHOBTB2):c.1122C>T (p.Asn374=)not provided [RCV002118503]benign|likely benign82300736723007367Humanname
152079668CV1597017single nucleotide variantNM_015178.3(RHOBTB2):c.1398C>T (p.Asn466=)not provided [RCV002092682]likely benign82300764323007643Humanname
152096264CV1599680single nucleotide variantNM_015178.3(RHOBTB2):c.1449C>T (p.His483=)not provided [RCV002151242]benign|likely benign82300769423007694Humanname
152149934CV1601575single nucleotide variantNM_015178.3(RHOBTB2):c.2139G>A (p.Ser713=)not provided [RCV002158023]likely benign82301742423017424Humanname
152152902CV1609052single nucleotide variantNM_015178.3(RHOBTB2):c.1185C>T (p.Ser395=)not provided [RCV002122005]likely benign82300743023007430Humanname
152041754CV1609088single nucleotide variantNM_015178.3(RHOBTB2):c.248G>A (p.Trp83Ter)not provided [RCV002188355]likely benign|conflicting interpretations of pathogenicity82300542723005427Humanname
152076407CV1616943single nucleotide variantNM_015178.3(RHOBTB2):c.202C>T (p.Arg68Cys)not provided [RCV002210654]likely benign82300538123005381Humanname
152085108CV1623016single nucleotide variantNM_015178.3(RHOBTB2):c.1836C>T (p.Val612=)not provided [RCV002113276]likely benign82301475423014754Humanname
152136225CV1624824duplicationNM_015178.3(RHOBTB2):c.924dup (p.Ser309fs)not provided [RCV002177454]likely benign82300716523007166Humanname
152050598CV1626404single nucleotide variantNM_015178.3(RHOBTB2):c.1299G>A (p.Leu433=)not provided [RCV002189366]likely benign82300754423007544Humanname
152071327CV1633760single nucleotide variantNM_015178.3(RHOBTB2):c.1215C>T (p.Leu405=)not provided [RCV002191823]likely benign82300746023007460Humanname
152093928CV1634314single nucleotide variantNM_015178.3(RHOBTB2):c.1833C>T (p.Asp611=)not provided [RCV002213103]likely benign82301475123014751Humanname
152036023CV1636165single nucleotide variantNM_015178.3(RHOBTB2):c.2055T>C (p.Arg685=)not provided [RCV002106992]likely benign82301734023017340Humanname
152097139CV1636590single nucleotide variantNM_015178.3(RHOBTB2):c.1038C>T (p.Asp346=)not provided [RCV002132783]likely benign82300728323007283Humanname
152081736CV1641414single nucleotide variantNM_015178.3(RHOBTB2):c.1536C>T (p.Ser512=)not provided [RCV002211510]likely benign82300802723008027Humanname
152067431CV1647179single nucleotide variantNM_015178.3(RHOBTB2):c.1803G>A (p.Ala601=)not provided [RCV002129159]likely benign82301472123014721Humanname
152070351CV1650776single nucleotide variantNM_015178.3(RHOBTB2):c.1941C>A (p.Pro647=)not provided [RCV002147993]likely benign82301571823015718Humanname
152057727CV1651874single nucleotide variantNM_015178.3(RHOBTB2):c.1809G>A (p.Gln603=)not provided [RCV002190167]likely benign82301472723014727Humanname
152058516CV1652033single nucleotide variantNM_015178.3(RHOBTB2):c.1803G>C (p.Ala601=)not provided [RCV002190251]likely benign82301472123014721Humanname
155711828CV1775870single nucleotide variantNM_015178.3(RHOBTB2):c.214G>A (p.Val72Met)not provided [RCV002296231]benign|uncertain significance82300539323005393Humanname
155721004CV1781283single nucleotide variantNM_015178.3(RHOBTB2):c.146A>C (p.His49Pro)not provided [RCV002306359]uncertain significance82300458023004580Humanname
156003869CV1906146single nucleotide variantNM_015178.3(RHOBTB2):c.1101C>T (p.Ser367=)not provided [RCV003098930]likely benign82300734623007346Humanname
156019494CV1914926single nucleotide variantNM_015178.3(RHOBTB2):c.1230G>T (p.Arg410=)not provided [RCV002636637]likely benign82300747523007475Humanname
156364840CV1928629single nucleotide variantNM_015178.3(RHOBTB2):c.1269G>A (p.Pro423=)not provided [RCV002632932]likely benign82300751423007514Humanname
156444887CV1949029single nucleotide variantNM_015178.3(RHOBTB2):c.1305G>A (p.Thr435=)not provided [RCV003115817]likely benign82300755023007550Humanname
156246640CV1957004single nucleotide variantNM_015178.3(RHOBTB2):c.1014C>T (p.Phe338=)not provided [RCV002576405]likely benign82300725923007259Humanname
156213027CV1963081single nucleotide variantNM_015178.3(RHOBTB2):c.1044C>T (p.Cys348=)not provided [RCV002575224]likely benign82300728923007289Humanname
156170443CV1968286single nucleotide variantNM_015178.3(RHOBTB2):c.1218C>T (p.Thr406=)not provided [RCV002594754]likely benign82300746323007463Humanname
156218277CV1980443single nucleotide variantNM_015178.3(RHOBTB2):c.1374T>C (p.Phe458=)not provided [RCV002626350]likely benign82300761923007619Humanname
156114810CV1985888single nucleotide variantNM_015178.3(RHOBTB2):c.103G>A (p.Ala35Thr)not provided [RCV002622717]uncertain significance82300453723004537Humanname
156230285CV2002371single nucleotide variantNM_015178.3(RHOBTB2):c.1263C>T (p.Ile421=)not provided [RCV002667553]likely benign82300750823007508Humanname
156393497CV2002435single nucleotide variantNM_015178.3(RHOBTB2):c.101G>A (p.Arg34His)not provided [RCV002681001]likely benign|uncertain significance82300453523004535Humanname
156354519CV2004947single nucleotide variantNM_015178.3(RHOBTB2):c.1279C>A (p.Arg427=)not provided [RCV002675825]likely benign82300752423007524Humanname
155902711CV2007111single nucleotide variantNM_015178.3(RHOBTB2):c.1788C>T (p.Thr596=)not provided [RCV002681202]likely benign82301470623014706Humanname
156177736CV2023167single nucleotide variantNM_015178.3(RHOBTB2):c.1596A>G (p.Pro532=)not provided [RCV002765517]likely benign82300808723008087Humanname
156285267CV2043100single nucleotide variantNM_015178.3(RHOBTB2):c.1107G>A (p.Gly369=)not provided [RCV002770537]likely benign82300735223007352Humanname
156289453CV2050345single nucleotide variantNM_015178.3(RHOBTB2):c.1326G>A (p.Glu442=)not provided [RCV002807283]likely benign82300757123007571Humanname
156083816CV2060344single nucleotide variantNM_015178.3(RHOBTB2):c.1284T>C (p.Ala428=)not provided [RCV002823943]likely benign82300752923007529Humanname
156221507CV2067913single nucleotide variantNM_015178.3(RHOBTB2):c.1578T>A (p.Ala526=)not provided [RCV002829702]likely benign82300806923008069Humanname
155947031CV2068872single nucleotide variantNM_015178.3(RHOBTB2):c.1518G>A (p.Leu506=)not provided [RCV002862132]likely benign82300800923008009Humanname
156191497CV2086769single nucleotide variantNM_015178.3(RHOBTB2):c.1539C>T (p.Ala513=)not provided [RCV002852153]likely benign82300803023008030Humanname
156024346CV2145538single nucleotide variantNM_015178.3(RHOBTB2):c.1380G>T (p.Leu460=)not provided [RCV003018382]likely benign82300762523007625Humanname
156192740CV2146319single nucleotide variantNM_015178.3(RHOBTB2):c.1104C>T (p.Asp368=)not provided [RCV003006054]likely benign82300734923007349Humanname
155918659CV2152634single nucleotide variantNM_015178.3(RHOBTB2):c.100C>T (p.Arg34Cys)not provided [RCV002991789]uncertain significance82300453423004534Humanname
156315281CV2158592single nucleotide variantNM_015178.3(RHOBTB2):c.1552T>C (p.Leu518=)not provided [RCV003028822]likely benign82300804323008043Humanname
156330032CV2180914single nucleotide variantNM_015178.3(RHOBTB2):c.1365C>G (p.Leu455=)not provided [RCV003047155]likely benign82300761023007610Humanname
156058144CV2239184single nucleotide variantNM_014899.4(RHOBTB3):c.112G>A (p.Asp38Asn)not specified [RCV004112167]uncertain significance59573196895731968Humanname
243060182CV2413749single nucleotide variantNM_015178.3(RHOBTB2):c.276C>G (p.Asp92Glu)Developmental and epileptic encephalopathy, 64 [RCV003135771]uncertain significance82300545523005455Human1name
243050021CV2417306single nucleotide variantNM_015178.3(RHOBTB2):c.280C>T (p.Arg94Cys)Developmental and epileptic encephalopathy, 64 [RCV004799683]|not provided [RCV003152178]likely pathogenic82300545923005459Human1name
329848418CV2523166single nucleotide variantNM_015178.3(RHOBTB2):c.268C>T (p.His90Tyr)See cases [RCV003224925]likely pathogenic82300544723005447Humanname
401750290CV2737239single nucleotide variantNM_001160036.2(RHOBTB2):c.2T>C (p.Met1Thr)not provided [RCV003314178]uncertain significance82299458522994585Humanname
401873009CV2751998single nucleotide variantNM_015178.3(RHOBTB2):c.103G>T (p.Ala35Ser)Developmental and epileptic encephalopathy, 64 [RCV003335875]likely pathogenic82300453723004537Human1name
405169987CV2854267single nucleotide variantNM_015178.3(RHOBTB2):c.1689C>T (p.Phe563=)not provided [RCV003542088]likely benign82301060623010606Humanname
405195274CV2868717single nucleotide variantNM_015178.3(RHOBTB2):c.1332C>T (p.Asp444=)not provided [RCV003550788]likely benign82300757723007577Humanname
402465624CV2916660single nucleotide variantNM_015178.3(RHOBTB2):c.277C>G (p.Arg93Gly)not provided [RCV003569205]uncertain significance82300545623005456Humanname
405223990CV2919811single nucleotide variantNM_015178.3(RHOBTB2):c.290A>G (p.Tyr97Cys)not provided [RCV003568851]uncertain significance82300546923005469Humanname
402478704CV2924825duplicationNM_015178.3(RHOBTB2):c.722dup (p.Ile242fs)not provided [RCV003571835]uncertain significance82300696223006963Humanname
402483841CV2937651single nucleotide variantNM_015178.3(RHOBTB2):c.1131G>C (p.Gly377=)not provided [RCV003659892]likely benign82300737623007376Humanname
405135396CV2962971single nucleotide variantNM_015178.3(RHOBTB2):c.1074T>C (p.Gly358=)not provided [RCV003668746]likely benign82300731923007319Humanname
405219847CV2968797deletionNM_015178.3(RHOBTB2):c.955del (p.His319fs)not provided [RCV003680373]conflicting interpretations of pathogenicity|uncertain significance82300719923007199Humanname
405245337CV2969102single nucleotide variantNM_015178.3(RHOBTB2):c.1758G>A (p.Leu586=)not provided [RCV003685129]likely benign82301067523010675Humanname
405212343CV2971068single nucleotide variantNM_015178.3(RHOBTB2):c.1614C>T (p.Thr538=)not provided [RCV003679575]likely benign82300810523008105Humanname
402477648CV2983860single nucleotide variantNM_015178.3(RHOBTB2):c.1701C>A (p.Pro567=)not provided [RCV003686224]likely benign82301061823010618Humanname
404980327CV3009878single nucleotide variantNM_015178.3(RHOBTB2):c.203G>T (p.Arg68Leu)not provided [RCV003691112]uncertain significance82300538223005382Humanname
405027703CV3015524single nucleotide variantNM_015178.3(RHOBTB2):c.2169C>T (p.Ser723=)not provided [RCV003695333]likely benign82301745423017454Humanname
405046068CV3017847single nucleotide variantNM_015178.3(RHOBTB2):c.1914C>T (p.Asn638=)not provided [RCV003696665]likely benign82301569123015691Humanname
405091494CV3021733single nucleotide variantNM_015178.3(RHOBTB2):c.1746C>T (p.Cys582=)not provided [RCV003699706]likely benign82301066323010663Humanname
402482907CV3036603single nucleotide variantNM_015178.3(RHOBTB2):c.1665G>A (p.Leu555=)not provided [RCV003713027]likely benign82301058223010582Humanname
405159653CV3037450single nucleotide variantNM_015178.3(RHOBTB2):c.1362G>C (p.Leu454=)not provided [RCV003703680]likely benign82300760723007607Humanname
405199342CV3056628single nucleotide variantNM_015178.3(RHOBTB2):c.1743C>G (p.Leu581=)not provided [RCV003730605]likely benign82301066023010660Humanname
404999183CV3120147single nucleotide variantNM_015178.3(RHOBTB2):c.232G>A (p.Val78Ile)not provided [RCV003827937]benign82300541123005411Humanname
405139486CV3125547single nucleotide variantNM_015178.3(RHOBTB2):c.1461C>A (p.Thr487=)not provided [RCV003816654]likely benign82300770623007706Humanname
405131308CV3133447single nucleotide variantNM_015178.3(RHOBTB2):c.1017G>T (p.Leu339=)not provided [RCV003838417]likely benign82300726223007262Humanname
405105347CV3139872single nucleotide variantNM_015178.3(RHOBTB2):c.2172G>A (p.Ser724=)not provided [RCV003835283]likely benign82301745723017457Humanname
405068269CV3140151single nucleotide variantNM_015178.3(RHOBTB2):c.1248G>A (p.Lys416=)not provided [RCV003833306]likely benign82300749323007493Humanname
405041478CV3141146single nucleotide variantNM_015178.3(RHOBTB2):c.1050C>T (p.Ser350=)not provided [RCV003831439]likely benign82300729523007295Humanname
405177628CV3147007deletionNM_015178.3(RHOBTB2):c.584del (p.Gly195fs)not provided [RCV003842103]likely benign82300682823006828Humanname
405170601CV3149966single nucleotide variantNM_015178.3(RHOBTB2):c.1035T>C (p.Phe345=)not provided [RCV003841437]likely benign82300728023007280Humanname
405222537CV3158284single nucleotide variantNM_015178.3(RHOBTB2):c.2106C>T (p.Leu702=)not provided [RCV003863780]likely benign82301739123017391Humanname
405209910CV3162686single nucleotide variantNM_015178.3(RHOBTB2):c.277C>T (p.Arg93Cys)not provided [RCV003861985]likely benign82300545623005456Humanname
405734302CV3309425single nucleotide variantNM_014899.4(RHOBTB3):c.234A>G (p.Ile78Met)not specified [RCV004451431]uncertain significance59573689495736894Humanname
405734316CV3309427single nucleotide variantNM_014899.4(RHOBTB3):c.275G>A (p.Gly92Asp)not specified [RCV004451433]uncertain significance59573693595736935Humanname
407474614CV3472925single nucleotide variantNM_014836.5(RHOBTB1):c.122C>T (p.Thr41Met)not specified [RCV004663044]uncertain significance106091142160911421Humanname
597776226CV3586571single nucleotide variantNM_014899.4(RHOBTB3):c.259C>G (p.Arg87Gly)not specified [RCV004852459]uncertain significance59573691995736919Humanname
597686528CV3586574single nucleotide variantNM_014899.4(RHOBTB3):c.115G>C (p.Glu39Gln)not specified [RCV004852461]uncertain significance59573197195731971Humanname
597964904CV3750990single nucleotide variantNM_015178.3(RHOBTB2):c.1692C>G (p.Thr564=)not provided [RCV005082552]likely benign82301060923010609Humanname
597897409CV3782386single nucleotide variantNM_015178.3(RHOBTB2):c.1755C>T (p.His585=)not provided [RCV005126611]likely benign82301067223010672Humanname
597848069CV3792904single nucleotide variantNM_015178.3(RHOBTB2):c.1836C>A (p.Val612=)not provided [RCV005145040]likely benign82301475423014754Humanname
597958017CV3796872single nucleotide variantNM_015178.3(RHOBTB2):c.2079C>T (p.Leu693=)not provided [RCV005137770]likely benign82301736423017364Humanname
597885544CV3799989single nucleotide variantNM_015178.3(RHOBTB2):c.1506G>C (p.Val502=)not provided [RCV005150468]likely benign82300799723007997Humanname
597933885CV3810813single nucleotide variantNM_015178.3(RHOBTB2):c.1938C>T (p.Phe646=)not provided [RCV005157522]likely benign82301571523015715Humanname
597943994CV3812432single nucleotide variantNM_015178.3(RHOBTB2):c.1599T>C (p.Phe533=)not provided [RCV005159642]likely benign82300809023008090Humanname
597862270CV3813873single nucleotide variantNM_015178.3(RHOBTB2):c.1392G>A (p.Val464=)not provided [RCV005146941]likely benign82300763723007637Humanname
597927573CV3819870single nucleotide variantNM_015178.3(RHOBTB2):c.1308G>C (p.Gly436=)not provided [RCV005156570]likely benign82300755323007553Humanname
597913442CV3833796single nucleotide variantNM_015178.3(RHOBTB2):c.1312C>T (p.Leu438=)not provided [RCV005183155]likely benign82300755723007557Humanname
597889039CV3839562single nucleotide variantNM_015178.3(RHOBTB2):c.1983C>T (p.Phe661=)not provided [RCV005179454]likely benign82301726823017268Humanname
597857001CV3849804single nucleotide variantNM_015178.3(RHOBTB2):c.179G>C (p.Arg60Pro)not provided [RCV005195313]uncertain significance82300461323004613Humanname
597908930CV3853806single nucleotide variantNM_015178.3(RHOBTB2):c.1440G>A (p.Lys480=)not provided [RCV005203289]likely benign82300768523007685Humanname
597845652CV3880477single nucleotide variantNM_015178.3(RHOBTB2):c.200A>G (p.Glu67Gly)not provided [RCV005227365]uncertain significance82300537923005379Humanname
598190178CV3902719single nucleotide variantNM_014899.4(RHOBTB3):c.181A>C (p.Ser61Arg)not specified [RCV005266814]uncertain significance59573203795732037Humanname
598190185CV3902720single nucleotide variantNM_014899.4(RHOBTB3):c.109G>A (p.Gly37Arg)not specified [RCV005266815]uncertain significance59573196595731965Humanname
15101926CV751079single nucleotide variantNM_015178.3(RHOBTB2):c.1872G>A (p.Ala624=)not provided [RCV000914875]likely benign82301564923015649Humanname
15193414CV766732single nucleotide variantNM_015178.3(RHOBTB2):c.1323C>T (p.Asn441=)not provided [RCV000933356]likely benign82300756823007568Humanname
15137185CV766733single nucleotide variantNM_015178.3(RHOBTB2):c.1920C>T (p.Asn640=)not provided [RCV000943197]benign82301569723015697Humanname
8631749CV86955single nucleotide variantNM_014899.3(RHOBTB3):c.1386C>T (p.Pro462=)Malignant melanoma [RCV000067046]not provided59578035595780355Humanname
126734495CV1000622single nucleotide variantNM_015178.3(RHOBTB2):c.769G>A (p.Ala257Thr)Inborn genetic diseases [RCV004656509]|not provided [RCV001311322]benign|likely benign|conflicting interpretations of pathogenicity82300701423007014Human1name
126750181CV1007946duplicationNM_015178.3(RHOBTB2):c.76_83dup (p.Arg29fs)not provided [RCV001315868]likely benign|uncertain significance82300450923004510Humanname
127317832CV1155946single nucleotide variantNM_015178.3(RHOBTB2):c.730G>A (p.Val244Met)not provided [RCV001521333]benign82300697523006975Humanname
150529408CV1288968single nucleotide variantNM_015178.3(RHOBTB2):c.643C>T (p.Gln215Ter)not provided [RCV001727437]uncertain significance82300688823006888Humanname
150551252CV1292598single nucleotide variantNM_015178.3(RHOBTB2):c.634C>T (p.Arg212Cys)not provided [RCV001754205]uncertain significance82300687923006879Humanname
150552376CV1301341single nucleotide variantNM_015178.3(RHOBTB2):c.919G>T (p.Gly307Cys)not provided [RCV001767751]uncertain significance82300716423007164Humanname
151663506CV1333998deletionNM_015178.3(RHOBTB2):c.1488del (p.Gly497fs)Developmental and epileptic encephalopathy, 64 [RCV001839172]uncertain significance82300773023007730Human1name
151893091CV1337761single nucleotide variantNM_015178.3(RHOBTB2):c.919G>A (p.Gly307Ser)not provided [RCV001944752]uncertain significance82300716423007164Humanname
151777213CV1342690single nucleotide variantNM_015178.3(RHOBTB2):c.332A>G (p.Asn111Ser)Developmental and epileptic encephalopathy, 64 [RCV003138014]|Inborn genetic diseases [RCV003289358]|not provided [RCV001988800]benign|uncertain significance82300599523005995Human2name
151834331CV1345144single nucleotide variantNM_015178.3(RHOBTB2):c.670G>A (p.Val224Met)not provided [RCV001880617]benign|uncertain significance82300691523006915Humanname
151845272CV1345991single nucleotide variantNM_015178.3(RHOBTB2):c.665G>T (p.Arg222Leu)not provided [RCV001936624]uncertain significance82300691023006910Humanname
151667507CV1353938single nucleotide variantNM_015178.3(RHOBTB2):c.847A>G (p.Ile283Val)not provided [RCV001963785]uncertain significance82300709223007092Humanname
151851885CV1358476single nucleotide variantNM_015178.3(RHOBTB2):c.746C>T (p.Pro249Leu)not provided [RCV001979055]benign|conflicting interpretations of pathogenicity|uncertain significance82300699123006991Humanname
151804444CV1371811single nucleotide variantNM_015178.3(RHOBTB2):c.829C>T (p.Arg277Cys)not provided [RCV001953228]uncertain significance82300707423007074Humanname
151825306CV1373420single nucleotide variantNM_015178.3(RHOBTB2):c.521G>C (p.Gly174Ala)not provided [RCV001934533]uncertain significance82300676623006766Humanname
151737155CV1391632deletionNM_015178.3(RHOBTB2):c.1327del (p.Arg443fs)not provided [RCV002041842]uncertain significance82300757223007572Humanname
151711776CV1395209single nucleotide variantNM_015178.3(RHOBTB2):c.955C>T (p.His319Tyr)not provided [RCV001964447]uncertain significance82300720023007200Humanname
151718745CV1397383single nucleotide variantNM_015178.3(RHOBTB2):c.707C>A (p.Pro236His)not provided [RCV001982721]likely benign|uncertain significance82300695223006952Humanname
151777482CV1411738single nucleotide variantNM_015178.3(RHOBTB2):c.727A>G (p.Ile243Val)not provided [RCV001930115]uncertain significance82300697223006972Humanname
151865009CV1416639single nucleotide variantNM_015178.3(RHOBTB2):c.617C>G (p.Ala206Gly)not provided [RCV001997622]likely benign|uncertain significance82300686223006862Humanname
151753807CV1424796single nucleotide variantNM_015178.3(RHOBTB2):c.979C>T (p.His327Tyr)Inborn genetic diseases [RCV002550418]|not provided [RCV001894603]likely benign|uncertain significance82300722423007224Human1name
151753052CV1426951single nucleotide variantNM_015178.3(RHOBTB2):c.583G>A (p.Gly195Ser)Inborn genetic diseases [RCV004656834]|not provided [RCV002007062]likely benign|uncertain significance82300682823006828Human1name
151886414CV1435688single nucleotide variantNM_015178.3(RHOBTB2):c.458A>G (p.Asn153Ser)not provided [RCV001962754]uncertain significance82300612123006121Humanname
151795921CV1437717single nucleotide variantNM_015178.3(RHOBTB2):c.571G>A (p.Val191Met)not provided [RCV001876936]benign|uncertain significance82300681623006816Humanname
151793818CV1447308single nucleotide variantNM_015178.3(RHOBTB2):c.308T>G (p.Val103Gly)not provided [RCV001876756]uncertain significance82300597123005971Humanname
151862744CV1454235single nucleotide variantNM_015178.3(RHOBTB2):c.739G>A (p.Asp247Asn)Developmental and epileptic encephalopathy, 64 [RCV005397162]|Inborn genetic diseases [RCV004955888]|not provided [RCV001938769]benign|likely benign|uncertain significance82300698423006984Human2name
151814146CV1460491single nucleotide variantNM_015178.3(RHOBTB2):c.547A>C (p.Ile183Leu)not provided [RCV001878569]benign|uncertain significance82300679223006792Humanname
151825565CV1467123single nucleotide variantNM_015178.3(RHOBTB2):c.823C>T (p.Arg275Trp)Inborn genetic diseases [RCV002555657]|not provided [RCV001901296]benign|likely benign|uncertain significance82300706823007068Human1name
151792580CV1471265single nucleotide variantNM_015178.3(RHOBTB2):c.550C>T (p.Pro184Ser)not provided [RCV001931562]benign|uncertain significance82300679523006795Humanname
151887112CV1471895deletionNM_015178.3(RHOBTB2):c.1712del (p.Asp571fs)not provided [RCV002000818]uncertain significance82301062923010629Humanname
151747008CV1478511single nucleotide variantNM_015178.3(RHOBTB2):c.935G>T (p.Gly312Val)Developmental and epileptic encephalopathy, 64 [RCV003408087]|not provided [RCV002022943]uncertain significance82300718023007180Human1name
151715168CV1492972single nucleotide variantNM_015178.3(RHOBTB2):c.996C>G (p.His332Gln)not provided [RCV001890188]conflicting interpretations of pathogenicity|uncertain significance82300724123007241Humanname
151761519CV1496437single nucleotide variantNM_015178.3(RHOBTB2):c.829C>A (p.Arg277Ser)not provided [RCV001895375]uncertain significance82300707423007074Humanname
151760314CV1497192single nucleotide variantNM_015178.3(RHOBTB2):c.751A>G (p.Ser251Gly)not provided [RCV001987187]uncertain significance82300699623006996Humanname
151723082CV1511803single nucleotide variantNM_015178.3(RHOBTB2):c.595G>A (p.Val199Ile)not provided [RCV002003934]uncertain significance82300684023006840Humanname
152060076CV1540571single nucleotide variantNM_015178.3(RHOBTB2):c.716C>T (p.Pro239Leu)Inborn genetic diseases [RCV003053426]|not provided [RCV002110005]likely benign82300696123006961Human1name
152168645CV1545444single nucleotide variantNM_015178.3(RHOBTB2):c.758A>C (p.Glu253Ala)Inborn genetic diseases [RCV004656887]|not provided [RCV002142518]likely benign|uncertain significance82300700323007003Human1name
152048369CV1549772single nucleotide variantNM_015178.3(RHOBTB2):c.439G>A (p.Ala147Thr)not provided [RCV002166543]likely benign82300610223006102Humanname
152154599CV1550655single nucleotide variantNM_015178.3(RHOBTB2):c.508C>T (p.Pro170Ser)not provided [RCV002140010]likely benign|conflicting interpretations of pathogenicity82300675323006753Humanname
152154983CV1560891single nucleotide variantNM_015178.3(RHOBTB2):c.406A>G (p.Ile136Val)Inborn genetic diseases [RCV004958416]|not provided [RCV002102809]likely benign82300606923006069Human1name
152138566CV1572296single nucleotide variantNM_015178.3(RHOBTB2):c.677G>A (p.Arg226Gln)not provided [RCV002219063]likely benign82300692223006922Humanname
152175899CV1580158single nucleotide variantNM_015178.3(RHOBTB2):c.613C>T (p.Arg205Ter)not provided [RCV002164037]likely benign82300685823006858Humanname
152126644CV1582376single nucleotide variantNM_015178.3(RHOBTB2):c.974A>G (p.Gln325Arg)Inborn genetic diseases [RCV003089060]|not provided [RCV002198765]benign|likely benign82300721923007219Human1name
152150079CV1603980single nucleotide variantNM_015178.3(RHOBTB2):c.796G>A (p.Ala266Thr)not provided [RCV002220672]benign82300704123007041Humanname
152163890CV1619117single nucleotide variantNM_015178.3(RHOBTB2):c.788C>T (p.Pro263Leu)not provided [RCV002123691]likely benign|conflicting interpretations of pathogenicity82300703323007033Humanname
152059819CV1627846single nucleotide variantNM_015178.3(RHOBTB2):c.769G>T (p.Ala257Ser)not provided [RCV002190390]likely benign|conflicting interpretations of pathogenicity82300701423007014Humanname
152034226CV1639404single nucleotide variantNM_015178.3(RHOBTB2):c.703C>A (p.Pro235Thr)not provided [RCV002187226]likely benign82300694823006948Humanname
152172333CV1650688single nucleotide variantNM_015178.3(RHOBTB2):c.797C>T (p.Ala266Val)not provided [RCV002162417]likely benign82300704223007042Humanname
152103583CV1667478single nucleotide variantNM_015178.3(RHOBTB2):c.847A>C (p.Ile283Leu)not provided [RCV002214466]uncertain significance82300709223007092Humanname
153346539CV1691820single nucleotide variantNM_015178.3(RHOBTB2):c.779T>C (p.Leu260Pro)Developmental and epileptic encephalopathy, 64 [RCV002273303]|not provided [RCV003096151]uncertain significance82300702423007024Human1name
153349266CV1694137single nucleotide variantNM_015178.3(RHOBTB2):c.978C>A (p.His326Gln)Developmental and epileptic encephalopathy, 64 [RCV002275658]uncertain significance82300722323007223Human1name
155641892CV1706082single nucleotide variantNM_015178.3(RHOBTB2):c.706C>G (p.Pro236Ala)not provided [RCV002286944]uncertain significance82300695123006951Humanname
9686856CV171449single nucleotide variantNM_015178.3(RHOBTB2):c.392C>G (p.Pro131Arg)Prostate cancer [RCV000149074]uncertain significance82300605523006055Human2name
155749154CV1770986single nucleotide variantNM_015178.3(RHOBTB2):c.484C>A (p.Pro162Thr)not provided [RCV002304351]uncertain significance82300672923006729Humanname
155728049CV1773824single nucleotide variantNM_015178.3(RHOBTB2):c.938G>A (p.Gly313Asp)not provided [RCV002301580]uncertain significance82300718323007183Humanname
155673297CV1774150single nucleotide variantNM_015178.3(RHOBTB2):c.752G>A (p.Ser251Asn)not provided [RCV002297643]benign|uncertain significance82300699723006997Humanname
155747891CV1774751single nucleotide variantNM_015178.3(RHOBTB2):c.894G>A (p.Met298Ile)not provided [RCV002303727]benign|uncertain significance82300713923007139Humanname
155686727CV1777671single nucleotide variantNM_015178.3(RHOBTB2):c.857C>T (p.Ser286Phe)not provided [RCV002299048]uncertain significance82300710223007102Humanname
156282298CV1896870single nucleotide variantNM_015178.3(RHOBTB2):c.757G>A (p.Glu253Lys)Inborn genetic diseases [RCV003087161]|not provided [RCV003087160]benign|uncertain significance82300700223007002Human1name
156435989CV1937332single nucleotide variantNM_015178.3(RHOBTB2):c.824G>A (p.Arg275Gln)Inborn genetic diseases [RCV005273607]|not provided [RCV003105134]benign|likely benign|uncertain significance82300706923007069Human1name
156442314CV1938544single nucleotide variantNM_015178.3(RHOBTB2):c.957C>G (p.His319Gln)not provided [RCV003112655]uncertain significance82300720223007202Humanname
156103624CV1956729single nucleotide variantNM_015178.3(RHOBTB2):c.826G>A (p.Val276Met)not provided [RCV002570939]benign|uncertain significance82300707123007071Humanname
156073868CV1968700single nucleotide variantNM_015178.3(RHOBTB2):c.975A>C (p.Gln325His)not provided [RCV002591354]benign|uncertain significance82300722023007220Humanname
156178032CV1978669single nucleotide variantNM_015178.3(RHOBTB2):c.590A>G (p.Lys197Arg)Inborn genetic diseases [RCV004656941]|not provided [RCV002594976]uncertain significance82300683523006835Human1name
156340779CV1994160single nucleotide variantNM_015178.3(RHOBTB2):c.987T>G (p.His329Gln)not provided [RCV002650305]benign82300723223007232Humanname
156387256CV1995883deletionNM_015178.3(RHOBTB2):c.2101del (p.Trp701fs)not provided [RCV002654077]likely benign|uncertain significance82301738523017385Humanname
156121532CV2039625single nucleotide variantNM_015178.3(RHOBTB2):c.826G>C (p.Val276Leu)not provided [RCV002800245]uncertain significance82300707123007071Humanname
156065284CV2054330single nucleotide variantNM_015178.3(RHOBTB2):c.406A>T (p.Ile136Phe)not provided [RCV002797233]uncertain significance82300606923006069Humanname
156045944CV2059839single nucleotide variantNM_015178.3(RHOBTB2):c.501A>T (p.Glu167Asp)not provided [RCV002796606]uncertain significance82300674623006746Humanname
156025076CV2078009duplicationNM_015178.3(RHOBTB2):c.2094dup (p.Arg699fs)not provided [RCV002866796]uncertain significance82301737623017377Humanname
156015449CV2134188single nucleotide variantNM_015178.3(RHOBTB2):c.613C>G (p.Arg205Gly)not provided [RCV003017965]uncertain significance82300685823006858Humanname
155910846CV2153154single nucleotide variantNM_015178.3(RHOBTB2):c.745C>T (p.Pro249Ser)not provided [RCV003012239]uncertain significance82300699023006990Humanname
156064019CV2158351single nucleotide variantNM_015178.3(RHOBTB2):c.605A>G (p.Asn202Ser)not provided [RCV003019829]uncertain significance82300685023006850Humanname
156078807CV2171035single nucleotide variantNM_015178.3(RHOBTB2):c.469C>T (p.Arg157Ter)Inborn genetic diseases [RCV003020280]|not provided [RCV003020279]uncertain significance82300613223006132Human1name
155996352CV2171612single nucleotide variantNM_015178.3(RHOBTB2):c.976C>T (p.His326Tyr)Inborn genetic diseases [RCV003274156]|not provided [RCV003034562]uncertain significance82300722123007221Human1name
156035865CV2178522single nucleotide variantNM_015178.3(RHOBTB2):c.960G>T (p.Gln320His)not provided [RCV003036374]uncertain significance82300720523007205Humanname
156296756CV2184156single nucleotide variantNM_015178.3(RHOBTB2):c.713C>T (p.Pro238Leu)Developmental and epileptic encephalopathy, 64 [RCV004725476]|not provided [RCV003027906]likely benign|uncertain significance82300695823006958Human1name
156108927CV2211085single nucleotide variantNM_014836.5(RHOBTB1):c.545G>T (p.Gly182Val)not specified [RCV004088264]uncertain significance106088912360889123Humanname
156199034CV2255956duplicationNM_015178.3(RHOBTB2):c.1684dup (p.Met562fs)Inborn genetic diseases [RCV002803336]uncertain significance82301060023010601Human1name
156285316CV2360777single nucleotide variantNM_014836.5(RHOBTB1):c.934G>A (p.Glu312Lys)not specified [RCV004213554]uncertain significance106088873460888734Humanname
155928219CV2361882single nucleotide variantNM_014899.4(RHOBTB3):c.460A>C (p.Ser154Arg)not specified [RCV004207657]uncertain significance59574837795748377Humanname
243050361CV2415469single nucleotide variantNM_015178.3(RHOBTB2):c.651G>T (p.Trp217Cys)Developmental and epileptic encephalopathy, 64 [RCV003148034]uncertain significance82300689623006896Human1name
329399491CV2436519single nucleotide variantNM_015178.3(RHOBTB2):c.690G>C (p.Gln230His)Inborn genetic diseases [RCV003196584]uncertain significance82300693523006935Human1name
329399256CV2470012single nucleotide variantNM_015178.3(RHOBTB2):c.895G>C (p.Asp299His)Inborn genetic diseases [RCV003220840]uncertain significance82300714023007140Human1name
329392215CV2470480single nucleotide variantNM_014899.4(RHOBTB3):c.879T>G (p.Ile293Met)not specified [RCV004273501]uncertain significance59575559295755592Humanname
401854993CV2752708single nucleotide variantNM_015178.3(RHOBTB2):c.494C>A (p.Pro165His)Developmental and epileptic encephalopathy, 64 [RCV003337762]uncertain significance82300673923006739Human1name
401866628CV2776288single nucleotide variantNM_015178.3(RHOBTB2):c.506T>G (p.Leu169Arg)Inborn genetic diseases [RCV003360052]uncertain significance82300675123006751Human1name
401940468CV2839311single nucleotide variantNM_015178.3(RHOBTB2):c.945C>A (p.His315Gln)Developmental and epileptic encephalopathy, 64 [RCV003448869]|not provided [RCV003778502]uncertain significance82300719023007190Human1name
405210679CV2867849single nucleotide variantNM_015178.3(RHOBTB2):c.902G>A (p.Ser301Asn)not provided [RCV003552554]benign|uncertain significance82300714723007147Humanname
405200459CV2877177single nucleotide variantNM_015178.3(RHOBTB2):c.986A>T (p.His329Leu)not provided [RCV003551334]likely benign|uncertain significance82300723123007231Humanname
405218355CV2907531single nucleotide variantNM_015178.3(RHOBTB2):c.470G>A (p.Arg157Gln)not provided [RCV003568074]uncertain significance82300613323006133Humanname
405206739CV2913616single nucleotide variantNM_015178.3(RHOBTB2):c.637C>T (p.His213Tyr)not provided [RCV003566602]likely benign|uncertain significance82300688223006882Humanname
405038235CV2933117single nucleotide variantNM_015178.3(RHOBTB2):c.592G>A (p.Asp198Asn)Inborn genetic diseases [RCV004371453]|not provided [RCV003578903]uncertain significance82300683723006837Human1name
405123149CV2942389single nucleotide variantNM_015178.3(RHOBTB2):c.505C>G (p.Leu169Val)not provided [RCV003671616]uncertain significance82300675023006750Humanname
405084325CV2946467single nucleotide variantNM_015178.3(RHOBTB2):c.524G>A (p.Arg175Gln)not provided [RCV003664843]uncertain significance82300676923006769Humanname
405076801CV2948672single nucleotide variantNM_015178.3(RHOBTB2):c.326T>C (p.Ile109Thr)not provided [RCV003664310]benign82300598923005989Humanname
405129958CV2953607single nucleotide variantNM_015178.3(RHOBTB2):c.433C>T (p.Arg145Cys)not provided [RCV003672320]uncertain significance82300609623006096Humanname
405130092CV2953623single nucleotide variantNM_015178.3(RHOBTB2):c.575C>T (p.Ala192Val)not provided [RCV003672332]uncertain significance82300682023006820Humanname
405131411CV2959075deletionNM_015178.3(RHOBTB2):c.1426del (p.Gln476fs)not provided [RCV003668411]uncertain significance82300767023007670Humanname
405158224CV2960918single nucleotide variantNM_015178.3(RHOBTB2):c.722C>T (p.Pro241Leu)not provided [RCV003670443]likely benign82300696723006967Humanname
405243713CV2971696single nucleotide variantNM_015178.3(RHOBTB2):c.407T>C (p.Ile136Thr)not provided [RCV003684657]benign82300607023006070Humanname
405244940CV2972712single nucleotide variantNM_015178.3(RHOBTB2):c.689A>C (p.Gln230Pro)not provided [RCV003684999]uncertain significance82300693423006934Humanname
405239711CV2993471single nucleotide variantNM_015178.3(RHOBTB2):c.472C>A (p.Pro158Thr)not provided [RCV003718934]uncertain significance82300613523006135Humanname
402517146CV3003250single nucleotide variantNM_015178.3(RHOBTB2):c.707C>T (p.Pro236Leu)not provided [RCV003716157]likely benign|uncertain significance82300695223006952Humanname
405249182CV3003805single nucleotide variantNM_015178.3(RHOBTB2):c.610A>G (p.Ile204Val)not provided [RCV003721196]benign82300685523006855Humanname
402497037CV3005785single nucleotide variantNM_015178.3(RHOBTB2):c.437A>G (p.Tyr146Cys)not provided [RCV003688009]uncertain significance82300610023006100Humanname
402498565CV3015937single nucleotide variantNM_015178.3(RHOBTB2):c.956A>G (p.His319Arg)not provided [RCV003688256]uncertain significance82300720123007201Humanname
405071019CV3034383single nucleotide variantNM_015178.3(RHOBTB2):c.691G>A (p.Ala231Thr)not provided [RCV003698321]uncertain significance82300693623006936Humanname
405131613CV3051162single nucleotide variantNM_015178.3(RHOBTB2):c.757G>C (p.Glu253Gln)not provided [RCV003724877]uncertain significance82300700223007002Humanname
405237554CV3081022single nucleotide variantNM_015178.3(RHOBTB2):c.730G>T (p.Val244Leu)not provided [RCV003736185]benign82300697523006975Humanname
405150130CV3142078single nucleotide variantNM_015178.3(RHOBTB2):c.665G>A (p.Arg222His)not provided [RCV003840000]benign82300691023006910Humanname
405226995CV3142819single nucleotide variantNM_015178.3(RHOBTB2):c.686T>A (p.Leu229Gln)not provided [RCV003848161]uncertain significance82300693123006931Humanname
405216289CV3143373single nucleotide variantNM_015178.3(RHOBTB2):c.912G>T (p.Glu304Asp)not provided [RCV003846537]benign82300715723007157Humanname
405171696CV3150081single nucleotide variantNM_015178.3(RHOBTB2):c.617C>T (p.Ala206Val)not provided [RCV003841552]uncertain significance82300686223006862Humanname
405149119CV3152427single nucleotide variantNM_015178.3(RHOBTB2):c.897C>A (p.Asp299Glu)not provided [RCV003856206]benign82300714223007142Humanname
405238271CV3167054single nucleotide variantNM_015178.3(RHOBTB2):c.673C>T (p.Gln225Ter)not provided [RCV003854309]uncertain significance82300691823006918Humanname
404990772CV3176248single nucleotide variantNM_015178.3(RHOBTB2):c.739G>C (p.Asp247His)not provided [RCV003881573]uncertain significance82300698423006984Humanname
405734168CV3309410single nucleotide variantNM_014836.5(RHOBTB1):c.403G>A (p.Val135Ile)not specified [RCV004451416]uncertain significance106089288960892889Humanname
405734178CV3309411single nucleotide variantNM_014836.5(RHOBTB1):c.524G>A (p.Arg175Gln)not specified [RCV004451417]uncertain significance106088914460889144Humanname
405734197CV3309413single nucleotide variantNM_014836.5(RHOBTB1):c.716C>T (p.Pro239Leu)not specified [RCV004451419]uncertain significance106088895260888952Humanname
405734322CV3309428single nucleotide variantNM_014899.4(RHOBTB3):c.356T>C (p.Ile119Thr)not specified [RCV004451434]uncertain significance59573701695737016Humanname
405734329CV3309429single nucleotide variantNM_014899.4(RHOBTB3):c.458G>A (p.Gly153Glu)not specified [RCV004451435]uncertain significance59574837595748375Humanname
405734339CV3309430single nucleotide variantNM_014899.4(RHOBTB3):c.877A>G (p.Ile293Val)not specified [RCV004451436]uncertain significance59575559095755590Humanname
405734348CV3309431single nucleotide variantNM_014899.4(RHOBTB3):c.932A>C (p.Asp311Ala)not specified [RCV004451437]uncertain significance59575564595755645Humanname
407427956CV3412254single nucleotide variantNM_015178.3(RHOBTB2):c.607G>T (p.Ala203Ser)not provided [RCV004592425]uncertain significance82300685223006852Humanname
407474609CV3472924single nucleotide variantNM_014836.5(RHOBTB1):c.712G>T (p.Ala238Ser)not specified [RCV004663043]uncertain significance106088895660888956Humanname
407474875CV3472934single nucleotide variantNM_014899.4(RHOBTB3):c.632A>G (p.Lys211Arg)not specified [RCV004663052]uncertain significance59575230095752300Humanname
407474871CV3472935single nucleotide variantNM_014899.4(RHOBTB3):c.364G>A (p.Ala122Thr)not specified [RCV004663053]uncertain significance59573702495737024Humanname
407508169CV3472936single nucleotide variantNM_014899.4(RHOBTB3):c.596T>C (p.Leu199Ser)not specified [RCV004671955]uncertain significance59575226495752264Humanname
408394675CV3521481single nucleotide variantNM_015178.3(RHOBTB2):c.610A>T (p.Ile204Phe)Developmental and epileptic encephalopathy, 64 [RCV004764278]uncertain significance82300685523006855Human1name
408388010CV3527313single nucleotide variantNM_015178.3(RHOBTB2):c.641T>C (p.Leu214Pro)not provided [RCV004773615]uncertain significance82300688623006886Humanname
596947564CV3549123duplicationNM_015178.3(RHOBTB2):c.1113dup (p.Arg372fs)not provided [RCV004811447]pathogenic82300735723007358Humanname
596946109CV3550394single nucleotide variantNM_015178.3(RHOBTB2):c.892A>G (p.Met298Val)Developmental and epileptic encephalopathy, 64 [RCV004818935]uncertain significance82300713723007137Human1name
597776192CV3586553single nucleotide variantNM_014836.5(RHOBTB1):c.967C>T (p.Arg323Trp)not specified [RCV004852450]uncertain significance106088870160888701Humanname
597776202CV3586558single nucleotide variantNM_014836.5(RHOBTB1):c.968G>A (p.Arg323Gln)not specified [RCV004852453]likely benign106088870060888700Humanname
597788384CV3586560single nucleotide variantNM_014836.5(RHOBTB1):c.674A>G (p.Gln225Arg)not specified [RCV004855486]uncertain significance106088899460888994Humanname
597718279CV3586565single nucleotide variantNM_015178.3(RHOBTB2):c.614G>C (p.Arg205Pro)Inborn genetic diseases [RCV004960112]uncertain significance82300685923006859Human1name
597718292CV3586567single nucleotide variantNM_015178.3(RHOBTB2):c.920G>A (p.Gly307Asp)Inborn genetic diseases [RCV004960114]uncertain significance82300716523007165Human1name
597776218CV3586568single nucleotide variantNM_014899.4(RHOBTB3):c.866G>A (p.Ser289Asn)not specified [RCV004852457]uncertain significance59575557995755579Humanname
597850818CV3746946single nucleotide variantNM_015178.3(RHOBTB2):c.362T>C (p.Met121Thr)not provided [RCV005060574]uncertain significance82300602523006025Humanname
597857802CV3748199single nucleotide variantNM_015178.3(RHOBTB2):c.878A>G (p.Tyr293Cys)not provided [RCV005067021]uncertain significance82300712323007123Humanname
597935628CV3759451single nucleotide variantNM_015178.3(RHOBTB2):c.862T>A (p.Ser288Thr)not provided [RCV005076571]uncertain significance82300710723007107Humanname
597872641CV3768767single nucleotide variantNM_015178.3(RHOBTB2):c.841C>T (p.His281Tyr)not provided [RCV005122937]uncertain significance82300708623007086Humanname
597945135CV3779560single nucleotide variantNM_015178.3(RHOBTB2):c.796G>T (p.Ala266Ser)not provided [RCV005134524]benign82300704123007041Humanname
597971992CV3798952single nucleotide variantNM_015178.3(RHOBTB2):c.897C>G (p.Asp299Glu)not provided [RCV005142364]benign82300714223007142Humanname
597956453CV3817974single nucleotide variantNM_015178.3(RHOBTB2):c.946C>A (p.Pro316Thr)not provided [RCV005162425]uncertain significance82300719123007191Humanname
597949862CV3818853single nucleotide variantNM_015178.3(RHOBTB2):c.712C>A (p.Pro238Thr)not provided [RCV005160923]uncertain significance82300695723006957Humanname
597963317CV3819587single nucleotide variantNM_015178.3(RHOBTB2):c.664C>T (p.Arg222Cys)not provided [RCV005164303]uncertain significance82300690923006909Humanname
597972932CV3820002single nucleotide variantNM_015178.3(RHOBTB2):c.622C>T (p.Leu208Phe)not provided [RCV005167716]uncertain significance82300686723006867Humanname
597848991CV3824376single nucleotide variantNM_015178.3(RHOBTB2):c.907G>A (p.Gly303Arg)not provided [RCV005173415]uncertain significance82300715223007152Humanname
597872486CV3836122single nucleotide variantNM_015178.3(RHOBTB2):c.838G>T (p.Ala280Ser)not provided [RCV005176919]uncertain significance82300708323007083Humanname
597874577CV3859637single nucleotide variantNM_015178.3(RHOBTB2):c.775C>A (p.Leu259Ile)not provided [RCV005198041]likely benign82300702023007020Humanname
597832025CV3864039deletionNM_015178.3(RHOBTB2):c.1067del (p.Gly356fs)Developmental and epileptic encephalopathy, 64 [RCV005208455]uncertain significance82300730823007308Human1name
598190087CV3902705single nucleotide variantNM_014836.5(RHOBTB1):c.731A>G (p.Lys244Arg)not specified [RCV005266800]uncertain significance106088893760888937Humanname
598190135CV3902712single nucleotide variantNM_014836.5(RHOBTB1):c.487A>G (p.Ile163Val)not specified [RCV005266807]uncertain significance106088918160889181Humanname
598190165CV3902717single nucleotide variantNM_014899.4(RHOBTB3):c.956A>G (p.His319Arg)not specified [RCV005266812]uncertain significance59575566995755669Humanname
598190193CV3902721single nucleotide variantNM_014899.4(RHOBTB3):c.475A>C (p.Thr159Pro)not specified [RCV005266816]uncertain significance59574839295748392Humanname
598176697CV4008173single nucleotide variantNM_015178.3(RHOBTB2):c.706C>A (p.Pro236Thr)Developmental and epileptic encephalopathy, 64 [RCV005393689]uncertain significance82300695123006951Human1name
21068782CV788825single nucleotide variantNM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter)Developmental and epileptic encephalopathy, 64 [RCV000984965]likely pathogenic|uncertain significance82300605723006057Human1name
126734504CV1000624single nucleotide variantNM_015178.3(RHOBTB2):c.1102G>A (p.Asp368Asn)Inborn genetic diseases [RCV002543575]|not provided [RCV001311324]likely benign|conflicting interpretations of pathogenicity|uncertain significance82300734723007347Human1name
126736828CV1017033single nucleotide variantNM_015178.3(RHOBTB2):c.2102G>C (p.Trp701Ser)Developmental and epileptic encephalopathy, 64 [RCV001328624]uncertain significance82301738723017387Human1name
127261754CV1087347single nucleotide variantNM_015178.3(RHOBTB2):c.2038C>T (p.Arg680Trp)Developmental and epileptic encephalopathy, 64 [RCV001420641]|Inborn genetic diseases [RCV004656590]|not provided [RCV001882534]uncertain significance82301732323017323Human2name
127298587CV1155947single nucleotide variantNM_015178.3(RHOBTB2):c.2129C>T (p.Pro710Leu)Developmental and epileptic encephalopathy, 64 [RCV002506599]|Inborn genetic diseases [RCV002564319]|not provided [RCV001513322]benign|likely benign82301741423017414Human2name
150417353CV1180430single nucleotide variantNM_015178.3(RHOBTB2):c.1411G>A (p.Glu471Lys)not provided [RCV001550085]pathogenic82300765623007656Humanname
150529410CV1288969single nucleotide variantNM_015178.3(RHOBTB2):c.1127C>T (p.Thr376Ile)not provided [RCV001727438]benign|likely benign|conflicting interpretations of pathogenicity82300737223007372Humanname
150548650CV1294433single nucleotide variantNM_015178.3(RHOBTB2):c.1320G>C (p.Glu440Asp)not provided [RCV001751925]uncertain significance82300756523007565Humanname
151662232CV1332958single nucleotide variantNM_015178.3(RHOBTB2):c.1541A>G (p.His514Arg)Developmental and epileptic encephalopathy, 64 [RCV001837189]uncertain significance82300803223008032Human1name
151662366CV1333063single nucleotide variantNM_015178.3(RHOBTB2):c.1039G>A (p.Val347Met)Developmental and epileptic encephalopathy, 64 [RCV001837296]|Inborn genetic diseases [RCV002542801]|not provided [RCV003698880]likely benign|uncertain significance82300728423007284Human2name
151846932CV1339106single nucleotide variantNM_015178.3(RHOBTB2):c.2005G>A (p.Val669Met)Inborn genetic diseases [RCV004956042]|not provided [RCV001995459]benign|uncertain significance82301729023017290Human1name
151871763CV1340764single nucleotide variantNM_015178.3(RHOBTB2):c.1412A>G (p.Glu471Gly)not provided [RCV001939899]uncertain significance82300765723007657Humanname
151793190CV1341585single nucleotide variantNM_015178.3(RHOBTB2):c.1923C>A (p.Asn641Lys)Inborn genetic diseases [RCV003365471]|not provided [RCV001866439]benign|uncertain significance82301570023015700Human1name
151853908CV1344220single nucleotide variantNM_015178.3(RHOBTB2):c.2059A>G (p.Lys687Glu)not provided [RCV001923153]uncertain significance82301734423017344Humanname
151891025CV1344525single nucleotide variantNM_015178.3(RHOBTB2):c.1328G>A (p.Arg443His)Inborn genetic diseases [RCV003247150]|not provided [RCV001943216]benign|likely benign|uncertain significance82300757323007573Human1name
151822670CV1351295single nucleotide variantNM_015178.3(RHOBTB2):c.2098C>T (p.Arg700Cys)not provided [RCV001992935]uncertain significance82301738323017383Humanname
151722460CV1352332single nucleotide variantNM_015178.3(RHOBTB2):c.2044C>T (p.Arg682Trp)Inborn genetic diseases [RCV002545520]|not provided [RCV002040269]benign|uncertain significance82301732923017329Human1name
151780595CV1356034single nucleotide variantNM_015178.3(RHOBTB2):c.1894C>T (p.Leu632Phe)not provided [RCV002046129]uncertain significance82301567123015671Humanname
151802850CV1364616single nucleotide variantNM_015178.3(RHOBTB2):c.1228C>T (p.Arg410Trp)not provided [RCV001991110]uncertain significance82300747323007473Humanname
151878183CV1370017single nucleotide variantNM_015178.3(RHOBTB2):c.1936T>A (p.Phe646Ile)not provided [RCV001961304]uncertain significance82301571323015713Humanname
151714184CV1399456single nucleotide variantNM_015178.3(RHOBTB2):c.1012T>C (p.Phe338Leu)not provided [RCV001908632]uncertain significance82300725723007257Humanname
151807060CV1400210single nucleotide variantNM_015178.3(RHOBTB2):c.1913A>G (p.Asn638Ser)not provided [RCV002012085]likely benign|uncertain significance82301569023015690Humanname
151796329CV1404673single nucleotide variantNM_015178.3(RHOBTB2):c.1171C>T (p.Arg391Ter)not provided [RCV002011157]likely benign|uncertain significance82300741623007416Humanname
151880234CV1405831single nucleotide variantNM_015178.3(RHOBTB2):c.1943G>A (p.Arg648Gln)not provided [RCV001940911]uncertain significance82301572023015720Humanname
151880558CV1411363single nucleotide variantNM_015178.3(RHOBTB2):c.1615C>T (p.Arg539Trp)Inborn genetic diseases [RCV005266099]|not provided [RCV002020093]likely benign|conflicting interpretations of pathogenicity|uncertain significance82300810623008106Human1name
151883175CV1411832single nucleotide variantNM_015178.3(RHOBTB2):c.1877A>G (p.Gln626Arg)not provided [RCV001962074]uncertain significance82301565423015654Humanname
151777789CV1411844single nucleotide variantNM_015178.3(RHOBTB2):c.2074C>A (p.His692Asn)Inborn genetic diseases [RCV005271428]|not provided [RCV001930141]likely benign|uncertain significance82301735923017359Human1name
151775599CV1413635single nucleotide variantNM_015178.3(RHOBTB2):c.2045G>A (p.Arg682Gln)not provided [RCV001971598]benign|uncertain significance82301733023017330Humanname
151822287CV1415686single nucleotide variantNM_015178.3(RHOBTB2):c.1589G>A (p.Gly530Glu)not provided [RCV001901003]uncertain significance82300808023008080Humanname
151885916CV1418333single nucleotide variantNM_015178.3(RHOBTB2):c.1114C>T (p.Arg372Trp)not provided [RCV001887453]uncertain significance82300735923007359Humanname
151730176CV1420447single nucleotide variantNM_015178.3(RHOBTB2):c.1619A>C (p.Glu540Ala)Inborn genetic diseases [RCV005266119]|not provided [RCV002041113]uncertain significance82300811023008110Human1name
151795514CV1421260single nucleotide variantNM_015178.3(RHOBTB2):c.1615C>G (p.Arg539Gly)not provided [RCV001917220]uncertain significance82300810623008106Humanname
151793492CV1423090single nucleotide variantNM_015178.3(RHOBTB2):c.1123G>A (p.Gly375Arg)Inborn genetic diseases [RCV004044120]|not provided [RCV001917043]likely benign|uncertain significance82300736823007368Human1name
151822795CV1424943single nucleotide variantNM_015178.3(RHOBTB2):c.2146T>G (p.Ser716Ala)not provided [RCV001919739]uncertain significance82301743123017431Humanname
151752957CV1426942single nucleotide variantNM_015178.3(RHOBTB2):c.2114A>G (p.Asn705Ser)not provided [RCV002007053]uncertain significance82301739923017399Humanname
151715890CV1434914single nucleotide variantNM_015178.3(RHOBTB2):c.1378C>A (p.Leu460Met)not provided [RCV001890325]uncertain significance82300762323007623Humanname
151775209CV1440170single nucleotide variantNM_015178.3(RHOBTB2):c.1415C>G (p.Ala472Gly)not provided [RCV001874833]uncertain significance82300766023007660Humanname
151838076CV1445311single nucleotide variantNM_015178.3(RHOBTB2):c.1592G>A (p.Gly531Glu)not provided [RCV001994408]uncertain significance82300808323008083Humanname
151771588CV1451748single nucleotide variantNM_015178.3(RHOBTB2):c.1219T>G (p.Tyr407Asp)not provided [RCV001988290]uncertain significance82300746423007464Humanname
151886633CV1455138single nucleotide variantNM_015178.3(RHOBTB2):c.1105G>T (p.Gly369Trp)Inborn genetic diseases [RCV005271600]|not provided [RCV002038015]likely benign|uncertain significance82300735023007350Human1name
151751249CV1464083single nucleotide variantNM_015178.3(RHOBTB2):c.1924G>A (p.Val642Met)not provided [RCV001948160]uncertain significance82301570123015701Humanname
151873951CV1470308single nucleotide variantNM_015178.3(RHOBTB2):c.1784T>C (p.Val595Ala)Inborn genetic diseases [RCV004953244]|not provided [RCV001885624]likely benign|uncertain significance82301470223014702Human1name
151716963CV1470772single nucleotide variantNM_015178.3(RHOBTB2):c.2095C>T (p.Arg699Trp)not provided [RCV001909113]benign|uncertain significance82301738023017380Humanname
151855072CV1473744single nucleotide variantNM_015178.3(RHOBTB2):c.1789G>A (p.Gly597Arg)Inborn genetic diseases [RCV003164108]|not provided [RCV001904586]likely benign|uncertain significance82301470723014707Human1name
151747990CV1478739single nucleotide variantNM_015178.3(RHOBTB2):c.1168A>T (p.Ser390Cys)not provided [RCV002023057]uncertain significance82300741323007413Humanname
151768853CV1486407single nucleotide variantNM_015178.3(RHOBTB2):c.1520A>G (p.Asp507Gly)not provided [RCV001914787]benign|uncertain significance82300801123008011Humanname
151739937CV1492379single nucleotide variantNM_015178.3(RHOBTB2):c.1115G>A (p.Arg372Gln)Inborn genetic diseases [RCV004656673]|not provided [RCV002042132]likely benign|uncertain significance82300736023007360Human1name
151735199CV1494209single nucleotide variantNM_015178.3(RHOBTB2):c.1537G>A (p.Ala513Thr)not provided [RCV001984627]uncertain significance82300802823008028Humanname
151729038CV1505313single nucleotide variantNM_015178.3(RHOBTB2):c.1382G>C (p.Arg461Pro)Developmental and epileptic encephalopathy, 64 [RCV005254020]|not provided [RCV002021100]likely pathogenic|uncertain significance82300762723007627Human1name
151719849CV1505937single nucleotide variantNM_015178.3(RHOBTB2):c.1975G>A (p.Glu659Lys)not provided [RCV002039911]likely benign|uncertain significance82301726023017260Humanname
151878435CV1506031single nucleotide variantNM_015178.3(RHOBTB2):c.1348C>T (p.His450Tyr)Inborn genetic diseases [RCV004041173]|not provided [RCV001886147]likely benign|uncertain significance82300759323007593Human1name
151750559CV1508279single nucleotide variantNM_015178.3(RHOBTB2):c.1200G>T (p.Met400Ile)not provided [RCV001986241]uncertain significance82300744523007445Humanname
151732729CV1509799single nucleotide variantNM_015178.3(RHOBTB2):c.2099G>A (p.Arg700His)Inborn genetic diseases [RCV002553453]|not provided [RCV001892426]benign|uncertain significance82301738423017384Human1name
152052987CV1523664single nucleotide variantNM_015178.3(RHOBTB2):c.2076C>A (p.His692Gln)Inborn genetic diseases [RCV004046322]|not provided [RCV002127459]benign|likely benign82301736123017361Human1name
152038835CV1538167single nucleotide variantNM_015178.3(RHOBTB2):c.1229G>A (p.Arg410Gln)Inborn genetic diseases [RCV004045671]|not provided [RCV002206030]likely benign|uncertain significance82300747423007474Human1name
152051762CV1538810single nucleotide variantNM_015178.3(RHOBTB2):c.1702G>A (p.Asp568Asn)Inborn genetic diseases [RCV002553700]|not provided [RCV002189498]benign|likely benign82301061923010619Human1name
152122324CV1541491single nucleotide variantNM_015178.3(RHOBTB2):c.1993C>T (p.Arg665Trp)not provided [RCV002175744]likely benign82301727823017278Humanname
152138563CV1562662single nucleotide variantNM_015178.3(RHOBTB2):c.1006C>T (p.Arg336Ter)not provided [RCV002100449]likely benign82300725123007251Humanname
152137717CV1563433single nucleotide variantNM_015178.3(RHOBTB2):c.1243G>A (p.Val415Met)not provided [RCV002200171]likely benign82300748823007488Humanname
152119573CV1576043single nucleotide variantNM_015178.3(RHOBTB2):c.1948A>G (p.Met650Val)Developmental and epileptic encephalopathy, 64 [RCV005397301]|not provided [RCV002197864]likely benign|uncertain significance82301572523015725Human1name
152065699CV1583503single nucleotide variantNM_015178.3(RHOBTB2):c.1022G>A (p.Arg341Gln)Inborn genetic diseases [RCV003053447]|not provided [RCV002110758]likely benign|uncertain significance82300726723007267Human1name
152025961CV1586654single nucleotide variantNM_015178.3(RHOBTB2):c.2012A>G (p.Tyr671Cys)not provided [RCV002184994]likely benign82301729723017297Humanname
152091515CV1595893single nucleotide variantNM_015178.3(RHOBTB2):c.1363C>T (p.Leu455Phe)not provided [RCV002077774]likely benign82300760823007608Humanname
152086572CV1608386single nucleotide variantNM_015178.3(RHOBTB2):c.1490G>C (p.Gly497Ala)not provided [RCV002212121]likely benign82300773523007735Humanname
152165940CV1618151single nucleotide variantNM_015178.3(RHOBTB2):c.1160C>G (p.Ser387Cys)not provided [RCV002204344]likely benign82300740523007405Humanname
152162219CV1635705single nucleotide variantNM_015178.3(RHOBTB2):c.2162C>T (p.Ser721Phe)not provided [RCV002203631]likely benign82301744723017447Humanname
152034233CV1639405single nucleotide variantNM_015178.3(RHOBTB2):c.2119C>A (p.Pro707Thr)not provided [RCV002187227]likely benign82301740423017404Humanname
152126051CV1641888single nucleotide variantNM_015178.3(RHOBTB2):c.1304C>T (p.Thr435Met)not provided [RCV002176193]conflicting interpretations of pathogenicity82300754923007549Humanname
152159750CV1649906single nucleotide variantNM_015178.3(RHOBTB2):c.1866C>G (p.His622Gln)not provided [RCV002159426]likely benign82301564323015643Humanname
152172709CV1658796single nucleotide variantNM_015178.3(RHOBTB2):c.1802C>A (p.Ala601Glu)not provided [RCV002162551]benign82301472023014720Humanname
152091695CV1662248single nucleotide variantNM_015178.3(RHOBTB2):c.2081A>G (p.Lys694Arg)not provided [RCV002132124]benign82301736623017366Humanname
152025977CV1666140single nucleotide variantNM_015178.3(RHOBTB2):c.1709A>G (p.Asp570Gly)Inborn genetic diseases [RCV004956204]|not provided [RCV002084645]likely benign|uncertain significance82301062623010626Human1name
152103591CV1667479single nucleotide variantNM_015178.3(RHOBTB2):c.2107T>C (p.Phe703Leu)not provided [RCV002214467]uncertain significance82301739223017392Humanname
153345757CV1691400single nucleotide variantNM_015178.3(RHOBTB2):c.1216A>G (p.Thr406Ala)Developmental and epileptic encephalopathy, 64 [RCV002272883]uncertain significance82300746123007461Human1name
155268011CV1701518single nucleotide variantNM_015178.3(RHOBTB2):c.1406A>G (p.Asn469Ser)Developmental and epileptic encephalopathy, 64 [RCV002283744]uncertain significance82300765123007651Human1name
155670486CV1771001single nucleotide variantNM_015178.3(RHOBTB2):c.1689C>A (p.Phe563Leu)not provided [RCV002297321]uncertain significance82301060623010606Humanname
155749589CV1771852single nucleotide variantNM_015178.3(RHOBTB2):c.1278C>G (p.Phe426Leu)not provided [RCV002304809]uncertain significance82300752323007523Humanname
155677421CV1771870single nucleotide variantNM_015178.3(RHOBTB2):c.1483G>A (p.Ala495Thr)not provided [RCV002297883]uncertain significance82300772823007728Humanname
156254319CV1878913single nucleotide variantNM_015178.3(RHOBTB2):c.1868G>C (p.Cys623Ser)not provided [RCV003060138]uncertain significance82301564523015645Humanname
156286906CV1907465single nucleotide variantNM_015178.3(RHOBTB2):c.1199T>C (p.Met400Thr)Inborn genetic diseases [RCV005266539]|not provided [RCV003087320]uncertain significance82300744423007444Human1name
156082547CV1909033single nucleotide variantNM_015178.3(RHOBTB2):c.2084G>A (p.Arg695Gln)not provided [RCV002591628]uncertain significance82301736923017369Humanname
156185208CV1919093single nucleotide variantNM_015178.3(RHOBTB2):c.1198A>G (p.Met400Val)not provided [RCV002595193]uncertain significance82300744323007443Humanname
156368280CV1925925single nucleotide variantNM_015178.3(RHOBTB2):c.1324G>A (p.Glu442Lys)not provided [RCV002633178]uncertain significance82300756923007569Humanname
156058468CV1928908single nucleotide variantNM_015178.3(RHOBTB2):c.1930C>T (p.Arg644Cys)not provided [RCV002620861]benign82301570723015707Humanname
155961141CV1936535single nucleotide variantNM_015178.3(RHOBTB2):c.1022G>T (p.Arg341Leu)not provided [RCV002512352]uncertain significance82300726723007267Humanname
156446575CV1947919single nucleotide variantNM_015178.3(RHOBTB2):c.1885G>A (p.Asp629Asn)not provided [RCV003118084]benign82301566223015662Humanname
156206785CV1959346single nucleotide variantNM_015178.3(RHOBTB2):c.1738C>T (p.Arg580Cys)not provided [RCV002574990]likely benign|uncertain significance82301065523010655Humanname
156385651CV1961216single nucleotide variantNM_015178.3(RHOBTB2):c.2096G>A (p.Arg699Gln)not provided [RCV002583463]uncertain significance82301738123017381Humanname
156190538CV1961696single nucleotide variantNM_015178.3(RHOBTB2):c.1051G>A (p.Val351Met)not provided [RCV002574395]uncertain significance82300729623007296Humanname
156125248CV1962703single nucleotide variantNM_015178.3(RHOBTB2):c.2093A>G (p.Lys698Arg)not provided [RCV002572019]uncertain significance82301737823017378Humanname
156315939CV1974779single nucleotide variantNM_015178.3(RHOBTB2):c.1627T>G (p.Phe543Val)Inborn genetic diseases [RCV004958625]|not provided [RCV002630062]uncertain significance82301054423010544Human1name
155910369CV1980106single nucleotide variantNM_015178.3(RHOBTB2):c.1851A>T (p.Glu617Asp)Inborn genetic diseases [RCV002613943]|not provided [RCV002613944]likely benign|uncertain significance82301476923014769Human1name
156414677CV1982929single nucleotide variantNM_015178.3(RHOBTB2):c.1241T>C (p.Val414Ala)not provided [RCV002609313]uncertain significance82300748623007486Humanname
156107280CV1996746single nucleotide variantNM_015178.3(RHOBTB2):c.1105G>A (p.Gly369Arg)not provided [RCV002662345]benign|uncertain significance82300735023007350Humanname
156198604CV2005940single nucleotide variantNM_015178.3(RHOBTB2):c.1280G>A (p.Arg427Gln)Inborn genetic diseases [RCV004066799]|not provided [RCV002643553]likely benign|uncertain significance82300752523007525Human1name
156312587CV2007044single nucleotide variantNM_015178.3(RHOBTB2):c.1002T>G (p.His334Gln)not provided [RCV002671718]uncertain significance82300724723007247Humanname
156207902CV2018735single nucleotide variantNM_015178.3(RHOBTB2):c.1942C>T (p.Arg648Ter)not provided [RCV002700517]uncertain significance82301571923015719Humanname
156165094CV2019671single nucleotide variantNM_015178.3(RHOBTB2):c.1802C>T (p.Ala601Val)Inborn genetic diseases [RCV002710314]|not provided [RCV002710313]benign|uncertain significance82301472023014720Human1name
156009947CV2020273single nucleotide variantNM_015178.3(RHOBTB2):c.1268C>T (p.Pro423Leu)not provided [RCV002734845]benign82300751323007513Humanname
156017538CV2020392single nucleotide variantNM_015178.3(RHOBTB2):c.1769C>T (p.Thr590Ile)not provided [RCV002735215]uncertain significance82301068623010686Humanname
155961566CV2023697single nucleotide variantNM_015178.3(RHOBTB2):c.1952A>G (p.Lys651Arg)not provided [RCV002731199]uncertain significance82301572923015729Humanname
156231393CV2024352single nucleotide variantNM_015178.3(RHOBTB2):c.1192G>T (p.Glu398Ter)not provided [RCV002745318]uncertain significance82300743723007437Humanname
156088035CV2034223single nucleotide variantNM_015178.3(RHOBTB2):c.2138C>T (p.Ser713Leu)Inborn genetic diseases [RCV004958739]|not provided [RCV002760844]likely benign82301742323017423Human1name
156278915CV2046560single nucleotide variantNM_015178.3(RHOBTB2):c.1660G>A (p.Val554Met)Inborn genetic diseases [RCV004064667]|not provided [RCV002770311]benign|likely benign|uncertain significance82301057723010577Human1name
156371041CV2048819single nucleotide variantNM_015178.3(RHOBTB2):c.1087C>T (p.Arg363Cys)not provided [RCV002814283]uncertain significance82300733223007332Humanname
156039851CV2049669single nucleotide variantNM_015178.3(RHOBTB2):c.1421T>A (p.Met474Lys)not provided [RCV002796392]uncertain significance82300766623007666Humanname
156191576CV2066401single nucleotide variantNM_015178.3(RHOBTB2):c.1931G>T (p.Arg644Leu)not provided [RCV002828625]likely benign82301570823015708Humanname
156195623CV2066578single nucleotide variantNM_015178.3(RHOBTB2):c.2083C>T (p.Arg695Trp)not provided [RCV002828760]benign|uncertain significance82301736823017368Humanname
155990001CV2066756single nucleotide variantNM_015178.3(RHOBTB2):c.1934A>G (p.Lys645Arg)not provided [RCV002842918]uncertain significance82301571123015711Humanname
155931345CV2067311single nucleotide variantNM_015178.3(RHOBTB2):c.1034T>G (p.Phe345Cys)not provided [RCV002838780]uncertain significance82300727923007279Humanname
156211472CV2074262single nucleotide variantNM_015178.3(RHOBTB2):c.1960T>C (p.Ser654Pro)not provided [RCV002829313]uncertain significance82301573723015737Humanname
155919549CV2102310single nucleotide variantNM_015178.3(RHOBTB2):c.1066G>A (p.Gly356Ser)not provided [RCV002903282]uncertain significance82300731123007311Humanname
155934641CV2129425single nucleotide variantNM_015178.3(RHOBTB2):c.1468G>A (p.Val490Ile)Inborn genetic diseases [RCV002970850]|not provided [RCV002970849]benign|uncertain significance82300771323007713Human1name
156028910CV2139345single nucleotide variantNM_015178.3(RHOBTB2):c.1562G>C (p.Ser521Thr)not provided [RCV002999052]likely benign82300805323008053Humanname
155946373CV2139471single nucleotide variantNM_015178.3(RHOBTB2):c.1574T>C (p.Met525Thr)not provided [RCV002994367]uncertain significance82300806523008065Humanname
156047852CV2154133single nucleotide variantNM_015178.3(RHOBTB2):c.1994G>A (p.Arg665Gln)not provided [RCV003019294]uncertain significance82301727923017279Humanname
156239199CV2156112single nucleotide variantNM_015178.3(RHOBTB2):c.1685T>C (p.Met562Thr)not provided [RCV003008037]uncertain significance82301060223010602Humanname
156291540CV2156347single nucleotide variantNM_015178.3(RHOBTB2):c.1787C>A (p.Thr596Asn)not provided [RCV003009990]uncertain significance82301470523014705Humanname
156045140CV2157707single nucleotide variantNM_015178.3(RHOBTB2):c.1584G>T (p.Met528Ile)not provided [RCV003019206]likely benign82300807523008075Humanname
155994956CV2171510single nucleotide variantNM_015178.3(RHOBTB2):c.1247A>G (p.Lys416Arg)not provided [RCV003034502]benign|uncertain significance82300749223007492Humanname
156122860CV2175048single nucleotide variantNM_015178.3(RHOBTB2):c.1657G>A (p.Ala553Thr)not provided [RCV003055534]uncertain significance82301057423010574Humanname
156373344CV2185239single nucleotide variantNM_015178.3(RHOBTB2):c.1899C>G (p.His633Gln)not provided [RCV003049892]uncertain significance82301567623015676Humanname
156147630CV2188462single nucleotide variantNM_015178.3(RHOBTB2):c.1166G>C (p.Trp389Ser)not provided [RCV003056417]likely benign82300741123007411Humanname
156356061CV2188846single nucleotide variantNM_015178.3(RHOBTB2):c.1778A>G (p.Tyr593Cys)not provided [RCV003048694]uncertain significance82301469623014696Humanname
156352946CV2190521single nucleotide variantNM_015178.3(RHOBTB2):c.1651A>G (p.Met551Val)not provided [RCV003048473]uncertain significance82301056823010568Humanname
156095025CV2213537single nucleotide variantNM_014899.4(RHOBTB3):c.1273G>A (p.Glu425Lys)not specified [RCV004087496]uncertain significance59576815795768157Humanname
155986725CV2259394single nucleotide variantNM_015178.3(RHOBTB2):c.1630C>G (p.Pro544Ala)Inborn genetic diseases [RCV002793324]likely benign82301054723010547Human1name
156152626CV2265929single nucleotide variantNM_014836.5(RHOBTB1):c.2048G>C (p.Arg683Thr)not specified [RCV004126776]uncertain significance106087152560871525Humanname
156171297CV2267657single nucleotide variantNM_014836.5(RHOBTB1):c.1798T>C (p.Tyr600His)not specified [RCV004134207]uncertain significance106087497160874971Humanname
156270108CV2276541single nucleotide variantNM_014836.5(RHOBTB1):c.1258A>G (p.Thr420Ala)not specified [RCV004146041]uncertain significance106088841060888410Humanname
156063493CV2277436single nucleotide variantNM_014899.4(RHOBTB3):c.1106G>C (p.Gly369Ala)not specified [RCV004144841]uncertain significance59576356595763565Humanname
156284557CV2291914single nucleotide variantNM_014836.5(RHOBTB1):c.2008C>G (p.Arg670Gly)not specified [RCV004158431]uncertain significance106087156560871565Humanname
156196729CV2306748single nucleotide variantNM_015178.3(RHOBTB2):c.1935G>C (p.Lys645Asn)Inborn genetic diseases [RCV002892881]uncertain significance82301571223015712Human1name
155981953CV2337109single nucleotide variantNM_014836.5(RHOBTB1):c.1994G>A (p.Arg665His)not specified [RCV004192871]uncertain significance106087157960871579Humanname
156189524CV2356623single nucleotide variantNM_014836.5(RHOBTB1):c.1234C>T (p.Arg412Trp)not specified [RCV004201987]uncertain significance106088843460888434Humanname
156008610CV2365286single nucleotide variantNM_014836.5(RHOBTB1):c.1276A>G (p.Lys426Glu)not specified [RCV004209380]uncertain significance106088839260888392Humanname
155932715CV2400079single nucleotide variantNM_014836.5(RHOBTB1):c.1606A>G (p.Met536Val)not specified [RCV004246993]uncertain significance106087802860878028Humanname
243060183CV2413750single nucleotide variantNM_015178.3(RHOBTB2):c.1331A>G (p.Asp444Gly)Developmental and epileptic encephalopathy, 64 [RCV003135772]uncertain significance82300757623007576Human1name
243051088CV2415645single nucleotide variantNM_015178.3(RHOBTB2):c.1702G>T (p.Asp568Tyr)Developmental and epileptic encephalopathy, 64 [RCV003148246]uncertain significance82301061923010619Human1name
329396715CV2455726single nucleotide variantNM_015178.3(RHOBTB2):c.1988A>G (p.Lys663Arg)Inborn genetic diseases [RCV003219687]|not provided [RCV003679174]uncertain significance82301727323017273Human1name
329399083CV2471889single nucleotide variantNM_015178.3(RHOBTB2):c.2056G>A (p.Glu686Lys)Inborn genetic diseases [RCV003220763]uncertain significance82301734123017341Human1name
329953363CV2668337single nucleotide variantNM_015178.3(RHOBTB2):c.1961C>T (p.Ser654Phe)not provided [RCV003229990]uncertain significance82301573823015738Humanname
329952439CV2671770single nucleotide variantNM_015178.3(RHOBTB2):c.1175C>G (p.Ala392Gly)not provided [RCV003237167]uncertain significance82300742023007420Humanname
401757435CV2693001single nucleotide variantNM_015178.3(RHOBTB2):c.1699C>G (p.Pro567Ala)Inborn genetic diseases [RCV003256043]uncertain significance82301061623010616Human1name
401749088CV2708463single nucleotide variantNM_014836.5(RHOBTB1):c.1117G>C (p.Gly373Arg)not specified [RCV004313558]uncertain significance106088855160888551Humanname
401777636CV2718280single nucleotide variantNM_015178.3(RHOBTB2):c.1288C>T (p.Leu430Phe)Inborn genetic diseases [RCV003263611]uncertain significance82300753323007533Human1name
401723124CV2737784single nucleotide variantNM_015178.3(RHOBTB2):c.1067G>T (p.Gly356Val)not provided [RCV003314956]uncertain significance82300731223007312Humanname
401858715CV2750631single nucleotide variantNM_015178.3(RHOBTB2):c.1697G>A (p.Ser566Asn)not provided [RCV003334304]uncertain significance82301061423010614Humanname
401855502CV2752803single nucleotide variantNM_015178.3(RHOBTB2):c.2140G>A (p.Ala714Thr)Developmental and epileptic encephalopathy, 64 [RCV003337857]uncertain significance82301742523017425Human1name
401886852CV2767935single nucleotide variantNM_014836.5(RHOBTB1):c.1830C>A (p.His610Gln)not specified [RCV004348187]uncertain significance106087227660872276Humanname
401894774CV2785107single nucleotide variantNM_014836.5(RHOBTB1):c.1040A>C (p.Lys347Thr)not specified [RCV004355116]likely benign106088862860888628Humanname
401898422CV2787889single nucleotide variantNM_014899.4(RHOBTB3):c.1825T>A (p.Leu609Ile)not specified [RCV004358566]uncertain significance59579316395793163Humanname
401925719CV2820961single nucleotide variantNM_015178.3(RHOBTB2):c.1381C>T (p.Arg461Cys)not provided [RCV003436802]uncertain significance82300762623007626Humanname
401964133CV2843512single nucleotide variantNM_015178.3(RHOBTB2):c.1474G>C (p.Glu492Gln)not specified [RCV003479855]uncertain significance82300771923007719Humanname
405205904CV2854964single nucleotide variantNM_015178.3(RHOBTB2):c.1978T>G (p.Tyr660Asp)not provided [RCV003551866]uncertain significance82301726323017263Humanname
402485610CV2855226single nucleotide variantNM_015178.3(RHOBTB2):c.1433T>C (p.Ile478Thr)not provided [RCV003544385]uncertain significance82300767823007678Humanname
405125662CV2886494single nucleotide variantNM_015178.3(RHOBTB2):c.1685T>A (p.Met562Lys)not provided [RCV003559544]likely benign82301060223010602Humanname
405154290CV2894230single nucleotide variantNM_015178.3(RHOBTB2):c.1727T>G (p.Ile576Ser)not provided [RCV003561941]benign82301064423010644Humanname
405189273CV2918042single nucleotide variantNM_015178.3(RHOBTB2):c.1915T>G (p.Tyr639Asp)not provided [RCV003564755]uncertain significance82301569223015692Humanname
402479095CV2924911single nucleotide variantNM_015178.3(RHOBTB2):c.1120A>G (p.Asn374Asp)not provided [RCV003571878]uncertain significance82300736523007365Humanname
402502967CV2932669single nucleotide variantNM_015178.3(RHOBTB2):c.2045G>C (p.Arg682Pro)not provided [RCV003574187]uncertain significance82301733023017330Humanname
405038250CV2933119single nucleotide variantNM_015178.3(RHOBTB2):c.1067G>A (p.Gly356Asp)Inborn genetic diseases [RCV004371454]|not provided [RCV003578904]uncertain significance82300731223007312Human1name
405011407CV2933725single nucleotide variantNM_015178.3(RHOBTB2):c.1078G>A (p.Ala360Thr)not provided [RCV003576764]uncertain significance82300732323007323Humanname
405089393CV2939656single nucleotide variantNM_015178.3(RHOBTB2):c.1983C>G (p.Phe661Leu)not provided [RCV003665180]uncertain significance82301726823017268Humanname
405171130CV2951245single nucleotide variantNM_015178.3(RHOBTB2):c.1172G>A (p.Arg391Gln)not provided [RCV003675361]uncertain significance82300741723007417Humanname
405186663CV2963899single nucleotide variantNM_015178.3(RHOBTB2):c.2080A>C (p.Lys694Gln)not provided [RCV003676714]uncertain significance82301736523017365Humanname
405245838CV2965549single nucleotide variantNM_015178.3(RHOBTB2):c.1285G>A (p.Val429Ile)not provided [RCV003685275]uncertain significance82300753023007530Humanname
405220449CV2969725single nucleotide variantNM_015178.3(RHOBTB2):c.2048A>G (p.Lys683Arg)not provided [RCV003680600]uncertain significance82301733323017333Humanname
405239166CV2983385single nucleotide variantNM_015178.3(RHOBTB2):c.1890G>A (p.Trp630Ter)not provided [RCV003683651]uncertain significance82301566723015667Humanname
405230277CV2987398single nucleotide variantNM_015178.3(RHOBTB2):c.1006C>G (p.Arg336Gly)not provided [RCV003711400]uncertain significance82300725123007251Humanname
405020821CV2992686single nucleotide variantNM_015178.3(RHOBTB2):c.1442C>A (p.Ala481Asp)not provided [RCV003694813]uncertain significance82300768723007687Humanname
402496680CV3005918single nucleotide variantNM_015178.3(RHOBTB2):c.2012A>T (p.Tyr671Phe)not provided [RCV003688080]uncertain significance82301729723017297Humanname
405129548CV3010788single nucleotide variantNM_015178.3(RHOBTB2):c.1855G>A (p.Ala619Thr)not provided [RCV003701548]uncertain significance82301477323014773Humanname
405201855CV3041365single nucleotide variantNM_015178.3(RHOBTB2):c.1045G>A (p.Glu349Lys)not provided [RCV003707467]uncertain significance82300729023007290Humanname
405222216CV3056917single nucleotide variantNM_015178.3(RHOBTB2):c.2054G>A (p.Arg685His)not provided [RCV003733486]uncertain significance82301733923017339Humanname
405211248CV3058970single nucleotide variantNM_015178.3(RHOBTB2):c.1333C>G (p.Leu445Val)not provided [RCV003731938]benign82300757823007578Humanname
405154563CV3068781single nucleotide variantNM_015178.3(RHOBTB2):c.1655G>A (p.Arg552Gln)not provided [RCV003726653]uncertain significance82301057223010572Humanname
405237558CV3081023single nucleotide variantNM_015178.3(RHOBTB2):c.1576G>A (p.Ala526Thr)not provided [RCV003736186]benign82300806723008067Humanname
405095639CV3119070single nucleotide variantNM_015178.3(RHOBTB2):c.1409A>G (p.Asn470Ser)not provided [RCV003811521]uncertain significance82300765423007654Humanname
405146294CV3126512single nucleotide variantNM_015178.3(RHOBTB2):c.1797G>A (p.Met599Ile)not provided [RCV003817239]benign|uncertain significance82301471523014715Humanname
405129423CV3133278single nucleotide variantNM_015178.3(RHOBTB2):c.1343T>C (p.Ile448Thr)not provided [RCV003838248]uncertain significance82300758823007588Humanname
405024410CV3139483single nucleotide variantNM_015178.3(RHOBTB2):c.2165C>T (p.Ser722Phe)not provided [RCV003830126]uncertain significance82301745023017450Humanname
405161155CV3153040single nucleotide variantNM_015178.3(RHOBTB2):c.2039G>A (p.Arg680Gln)not provided [RCV003840775]benign82301732423017324Humanname
405222232CV3154900single nucleotide variantNM_015178.3(RHOBTB2):c.1148G>T (p.Gly383Val)not provided [RCV003847395]uncertain significance82300739323007393Humanname
405232558CV3157602single nucleotide variantNM_015178.3(RHOBTB2):c.1021C>T (p.Arg341Ter)not provided [RCV003865552]uncertain significance82300726623007266Humanname
405241566CV3176977single nucleotide variantNM_015178.3(RHOBTB2):c.1871C>T (p.Ala624Val)not provided [RCV003867418]uncertain significance82301564823015648Humanname
405250460CV3180746single nucleotide variantNM_015178.3(RHOBTB2):c.1959G>A (p.Met653Ile)not provided [RCV003870023]benign|uncertain significance82301573623015736Humanname
405717056CV3309405single nucleotide variantNM_014836.5(RHOBTB1):c.1358T>C (p.Met453Thr)not specified [RCV004449344]uncertain significance106088831060888310Humanname
405717068CV3309406single nucleotide variantNM_014836.5(RHOBTB1):c.1394A>C (p.Lys465Thr)not specified [RCV004449345]uncertain significance106088827460888274Humanname
405734148CV3309407single nucleotide variantNM_014836.5(RHOBTB1):c.1498A>G (p.Lys500Glu)not specified [RCV004451413]uncertain significance106088618960886189Humanname
405734153CV3309408single nucleotide variantNM_014836.5(RHOBTB1):c.1588A>T (p.Asn530Tyr)not specified [RCV004451414]uncertain significance106087804660878046Humanname
405734210CV3309414single nucleotide variantNM_015178.3(RHOBTB2):c.1279C>T (p.Arg427Trp)Inborn genetic diseases [RCV004451420]|not provided [RCV004721809]likely benign82300752423007524Human1name
405734219CV3309415single nucleotide variantNM_015178.3(RHOBTB2):c.1837C>T (p.Leu613Phe)Inborn genetic diseases [RCV004451421]uncertain significance82301475523014755Human1name
405734227CV3309416single nucleotide variantNM_014899.4(RHOBTB3):c.1027A>C (p.Ile343Leu)not specified [RCV004451422]uncertain significance59575574095755740Humanname
405734247CV3309418single nucleotide variantNM_014899.4(RHOBTB3):c.1406A>G (p.Glu469Gly)not specified [RCV004451424]uncertain significance59578037595780375Humanname
405734254CV3309419single nucleotide variantNM_014899.4(RHOBTB3):c.1465T>C (p.Phe489Leu)not specified [RCV004451425]uncertain significance59578380595783805Humanname
405734263CV3309420single nucleotide variantNM_014899.4(RHOBTB3):c.1601T>C (p.Val534Ala)not specified [RCV004451426]uncertain significance59578394195783941Humanname
405734271CV3309421single nucleotide variantNM_014899.4(RHOBTB3):c.1730G>A (p.Arg577His)not specified [RCV004451427]uncertain significance59579306895793068Humanname
405734279CV3309422single nucleotide variantNM_014899.4(RHOBTB3):c.1760C>T (p.Ser587Leu)not specified [RCV004451428]uncertain significance59579309895793098Humanname
405734285CV3309423single nucleotide variantNM_014899.4(RHOBTB3):c.1769A>G (p.Tyr590Cys)not specified [RCV004451429]uncertain significance59579310795793107Humanname
405734295CV3309424single nucleotide variantNM_014899.4(RHOBTB3):c.1810C>T (p.Arg604Trp)not specified [RCV004451430]uncertain significance59579314895793148Humanname
405855222CV3393984single nucleotide variantNM_015178.3(RHOBTB2):c.1342A>G (p.Ile448Val)Developmental and epileptic encephalopathy, 64 [RCV004547210]uncertain significance82300758723007587Human1name
407474617CV3472926single nucleotide variantNM_014836.5(RHOBTB1):c.1599G>T (p.Lys533Asn)not specified [RCV004663045]uncertain significance106087803560878035Humanname
407474622CV3472927single nucleotide variantNM_014836.5(RHOBTB1):c.1895G>T (p.Arg632Leu)not specified [RCV004663046]uncertain significance106087221160872211Humanname
407474894CV3472928single nucleotide variantNM_015178.3(RHOBTB2):c.1654C>T (p.Arg552Trp)Inborn genetic diseases [RCV004663047]uncertain significance82301057123010571Human1name
407474886CV3472930single nucleotide variantNM_014899.4(RHOBTB3):c.1217A>G (p.Tyr406Cys)not specified [RCV004663049]uncertain significance59576810195768101Humanname
407508166CV3472931single nucleotide variantNM_014899.4(RHOBTB3):c.1438A>G (p.Thr480Ala)not specified [RCV004671954]uncertain significance59578040795780407Humanname
407474882CV3472932single nucleotide variantNM_014899.4(RHOBTB3):c.1540A>T (p.Ile514Phe)not specified [RCV004663050]uncertain significance59578388095783880Humanname
407506726CV3496179single nucleotide variantNM_015178.3(RHOBTB2):c.1454G>T (p.Arg485Leu)not provided [RCV004698020]uncertain significance82300769923007699Humanname
408381676CV3501995single nucleotide variantNM_015178.3(RHOBTB2):c.1991A>G (p.His664Arg)not provided [RCV004729523]uncertain significance82301727623017276Humanname
596931179CV3531512single nucleotide variantNM_015178.3(RHOBTB2):c.1717A>T (p.Lys573Ter)not provided [RCV004781074]uncertain significance82301063423010634Humanname
596928052CV3532787single nucleotide variantNM_015178.3(RHOBTB2):c.1043G>A (p.Cys348Tyr)not provided [RCV004778885]uncertain significance82300728823007288Humanname
596945945CV3550311single nucleotide variantNM_015178.3(RHOBTB2):c.2064G>C (p.Glu688Asp)Developmental and epileptic encephalopathy, 64 [RCV004818850]uncertain significance82301734923017349Human1name
597776194CV3586554single nucleotide variantNM_014836.5(RHOBTB1):c.2024T>C (p.Ile675Thr)not specified [RCV004852451]uncertain significance106087154960871549Humanname
597788377CV3586555single nucleotide variantNM_014836.5(RHOBTB1):c.1084G>A (p.Glu362Lys)not specified [RCV004855484]uncertain significance106088858460888584Humanname
597788381CV3586556single nucleotide variantNM_014836.5(RHOBTB1):c.1597A>G (p.Lys533Glu)not specified [RCV004855485]uncertain significance106087803760878037Humanname
597776211CV3586561single nucleotide variantNM_014836.5(RHOBTB1):c.1823A>G (p.Asn608Ser)not specified [RCV004852455]uncertain significance106087228360872283Humanname
597718274CV3586564single nucleotide variantNM_015178.3(RHOBTB2):c.1652T>G (p.Met551Arg)Inborn genetic diseases [RCV004960111]uncertain significance82301056923010569Human1name
597788387CV3586569single nucleotide variantNM_014899.4(RHOBTB3):c.1732A>G (p.Ser578Gly)not specified [RCV004855487]uncertain significance59579307095793070Humanname
597776222CV3586570single nucleotide variantNM_014899.4(RHOBTB3):c.1226C>T (p.Ser409Phe)not specified [RCV004852458]uncertain significance59576811095768110Humanname
597788395CV3586575single nucleotide variantNM_014899.4(RHOBTB3):c.1378C>G (p.Leu460Val)not specified [RCV004855489]uncertain significance59578034795780347Humanname
597831529CV3740083single nucleotide variantNM_015178.3(RHOBTB2):c.1072G>A (p.Gly358Ser)Developmental and epileptic encephalopathy, 64 [RCV005208227]|not provided [RCV005062782]uncertain significance82300731723007317Human1name
597856329CV3748028single nucleotide variantNM_015178.3(RHOBTB2):c.1933A>T (p.Lys645Ter)not provided [RCV005066850]uncertain significance82301571023015710Humanname
597923575CV3748394single nucleotide variantNM_015178.3(RHOBTB2):c.1970A>G (p.Asn657Ser)not provided [RCV005075041]uncertain significance82301725523017255Humanname
597965529CV3751169single nucleotide variantNM_015178.3(RHOBTB2):c.1079C>T (p.Ala360Val)not provided [RCV005082731]uncertain significance82300732423007324Humanname
597961236CV3753201single nucleotide variantNM_015178.3(RHOBTB2):c.1153G>A (p.Val385Met)not provided [RCV005081701]uncertain significance82300739823007398Humanname
597924178CV3778004single nucleotide variantNM_015178.3(RHOBTB2):c.1138C>T (p.Pro380Ser)not provided [RCV005130728]uncertain significance82300738323007383Humanname
597897218CV3782262single nucleotide variantNM_015178.3(RHOBTB2):c.1417T>C (p.Phe473Leu)not provided [RCV005126487]uncertain significance82300766223007662Humanname
597892964CV3784909single nucleotide variantNM_015178.3(RHOBTB2):c.2141C>T (p.Ala714Val)not provided [RCV005125688]uncertain significance82301742623017426Humanname
597968591CV3791000single nucleotide variantNM_015178.3(RHOBTB2):c.1251G>A (p.Met417Ile)not provided [RCV005141032]uncertain significance82300749623007496Humanname
597974980CV3798658single nucleotide variantNM_015178.3(RHOBTB2):c.1484C>G (p.Ala495Gly)not provided [RCV005144246]uncertain significance82300772923007729Humanname
597868486CV3803338single nucleotide variantNM_015178.3(RHOBTB2):c.2116A>G (p.Ser706Gly)not provided [RCV005147935]uncertain significance82301740123017401Humanname
597920531CV3811797single nucleotide variantNM_015178.3(RHOBTB2):c.1322A>G (p.Asn441Ser)not provided [RCV005155628]uncertain significance82300756723007567Humanname
597943766CV3812322single nucleotide variantNM_015178.3(RHOBTB2):c.1966G>A (p.Glu656Lys)not provided [RCV005159532]uncertain significance82301574323015743Humanname
597860752CV3813439single nucleotide variantNM_015178.3(RHOBTB2):c.1276T>G (p.Phe426Val)not provided [RCV005146701]uncertain significance82300752123007521Humanname
597967535CV3824264single nucleotide variantNM_015178.3(RHOBTB2):c.1922A>G (p.Asn641Ser)not provided [RCV005165487]uncertain significance82301569923015699Humanname
597837367CV3828796single nucleotide variantNM_015178.3(RHOBTB2):c.1059G>C (p.Glu353Asp)not provided [RCV005171489]uncertain significance82300730423007304Humanname
597895212CV3833647single nucleotide variantNM_015178.3(RHOBTB2):c.1739G>A (p.Arg580His)not provided [RCV005180339]uncertain significance82301065623010656Humanname
597870959CV3835629single nucleotide variantNM_015178.3(RHOBTB2):c.1691C>A (p.Thr564Asn)not provided [RCV005176620]uncertain significance82301060823010608Humanname
597966853CV3855655single nucleotide variantNM_015178.3(RHOBTB2):c.1616G>A (p.Arg539Gln)not provided [RCV005194635]benign82300810723008107Humanname
598190079CV3902704single nucleotide variantNM_014836.5(RHOBTB1):c.1556T>C (p.Val519Ala)not specified [RCV005266799]uncertain significance106088613160886131Humanname
598190096CV3902706single nucleotide variantNM_014836.5(RHOBTB1):c.1763C>T (p.Thr588Met)not specified [RCV005266801]likely benign106087500660875006Humanname
598190101CV3902707single nucleotide variantNM_014836.5(RHOBTB1):c.2041C>T (p.Arg681Cys)not specified [RCV005266802]uncertain significance106087153260871532Humanname
598190110CV3902708single nucleotide variantNM_014836.5(RHOBTB1):c.1943G>A (p.Arg648Gln)not specified [RCV005266803]uncertain significance106087163060871630Humanname
598190116CV3902709single nucleotide variantNM_014836.5(RHOBTB1):c.1520G>T (p.Cys507Phe)not specified [RCV005266804]uncertain significance106088616760886167Humanname
598190122CV3902710single nucleotide variantNM_014836.5(RHOBTB1):c.1285G>A (p.Asp429Asn)not specified [RCV005266805]uncertain significance106088838360888383Humanname
598190129CV3902711single nucleotide variantNM_014836.5(RHOBTB1):c.1522G>A (p.Glu508Lys)not specified [RCV005266806]likely benign106088616560886165Humanname
598190142CV3902713single nucleotide variantNM_014836.5(RHOBTB1):c.1201A>G (p.Arg401Gly)not specified [RCV005266808]uncertain significance106088846760888467Humanname
598190148CV3902714single nucleotide variantNM_015178.3(RHOBTB2):c.1402C>A (p.Leu468Ile)Inborn genetic diseases [RCV005266809]uncertain significance82300764723007647Human1name
598190161CV3902716single nucleotide variantNM_015178.3(RHOBTB2):c.1124G>A (p.Gly375Glu)Inborn genetic diseases [RCV005266811]uncertain significance82300736923007369Human1name
617149496CV4017428single nucleotide variantNM_015178.3(RHOBTB2):c.1945G>A (p.Asp649Asn)not provided [RCV005417086]uncertain significance82301572223015722Humanname
13517208CV486748single nucleotide variantNM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)Developmental and epileptic encephalopathy, 64 [RCV000656374]|Inborn genetic diseases [RCV001266474]|Rett syndrome [RCV000585816]|not provided [RCV001090302]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity82300771023007710Human3name
13532122CV511754single nucleotide variantNM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp)Developmental and epileptic encephalopathy, 64 [RCV000656375]|Inborn genetic diseases [RCV000623936]|not provided [RCV005091813]pathogenic|likely pathogenic|uncertain significance82300770723007707Human2name
13673999CV535681single nucleotide variantNM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)Developmental and epileptic encephalopathy, 64 [RCV000656372]|Inborn genetic diseases [RCV001265836]|not provided [RCV001268457]pathogenic|likely pathogenic82300762723007627Human2name
13674000CV535682single nucleotide variantNM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln)Developmental and epileptic encephalopathy, 64 [RCV000656373]|Dystonic disorder [RCV001003967]|Inborn genetic diseases [RCV001267320]|not provided [RCV001311325]pathogenic|likely pathogenic82300771123007711Human5name
13674001CV535685single nucleotide variantNM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly)Developmental and epileptic encephalopathy, 64 [RCV000656376]pathogenic|likely pathogenic82300760023007600Human1name
14393217CV609309single nucleotide variantNM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)Developmental and epileptic encephalopathy, 64 [RCV000755717]|not provided [RCV001052516]pathogenic|likely pathogenic82300769823007698Human1name
15169776CV700526single nucleotide variantNM_015178.3(RHOBTB2):c.1931G>A (p.Arg644His)not provided [RCV000949524]benign|likely benign82301570823015708Humanname
28876714CV859657single nucleotide variantNM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly)Developmental and epileptic encephalopathy, 64 [RCV001775156]|not provided [RCV001090301]pathogenic|likely pathogenic82300771023007710Human1name
8631747CV86953single nucleotide variantNM_014899.3(RHOBTB3):c.1382T>A (p.Ile461Asn)Malignant melanoma [RCV000067044]not provided59578035195780351Humanname
8631748CV86954single nucleotide variantNM_014899.3(RHOBTB3):c.1385C>A (p.Pro462His)Malignant melanoma [RCV000067045]not provided59578035495780354Humanname
38467442CV920789single nucleotide variantNM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly)Developmental and epileptic encephalopathy, 64 [RCV001809992]|not provided [RCV001200302]conflicting interpretations of pathogenicity|uncertain significance82300762123007621Human1name
38463895CV961289single nucleotide variantNM_015178.3(RHOBTB2):c.1837C>G (p.Leu613Val)Developmental and epileptic encephalopathy, 64 [RCV001249354]not provided82301475523014755Humanname
40886916CV973660single nucleotide variantNM_015178.3(RHOBTB2):c.1346C>T (p.Ala449Val)Inborn genetic diseases [RCV001266232]|not provided [RCV001880114]uncertain significance82300759123007591Human1name
41407126CV980701single nucleotide variantNM_015178.3(RHOBTB2):c.1150C>T (p.Arg384Cys)Developmental and epileptic encephalopathy, 64 [RCV004799639]|not provided [RCV003106177]benign|uncertain significance82300739523007395Human1name
42723723CV984582single nucleotide variantNM_015178.3(RHOBTB2):c.1621G>A (p.Val541Met)Developmental and epileptic encephalopathy, 64 [RCV001291730]uncertain significance82301053823010538Human1name
151881396CV1475690deletionNM_015178.3(RHOBTB2):c.401_402del (p.Pro134fs)See cases [RCV002252743]|not provided [RCV001961728]uncertain significance82300606423006065Humanname
155994069CV2286366duplicationNM_015178.3(RHOBTB2):c.739_743dup (p.Pro249fs)Inborn genetic diseases [RCV002864758]uncertain significance82300698023006981Human1name
597870257CV3855167duplicationNM_015178.3(RHOBTB2):c.363_384dup (p.Phe129fs)not provided [RCV005197332]uncertain significance82300602523006026Humanname
405179338CV3148784microsatelliteNM_015178.3(RHOBTB2):c.2145CTC[2] (p.Ser719del)not provided [RCV003858562]uncertain significance82301742923017431Humanname
597718285CV3586566microsatelliteNM_015178.3(RHOBTB2):c.1810ATG[1] (p.Met605del)Inborn genetic diseases [RCV004960113]uncertain significance82301472723014729Humanname
405222434CV2976237microsatelliteNM_015178.3(RHOBTB2):c.1869_1870del (p.Ala624fs)not provided [RCV003680859]uncertain significance82301564423015645Humanname
597876146CV3775928duplicationNM_015178.3(RHOBTB2):c.1308_1309dup (p.Glu437fs)not provided [RCV005123455]uncertain significance82300754923007550Humanname
152173185CV1652957insertionNM_015178.3(RHOBTB2):c.1932_1933insT (p.Lys645Ter)not provided [RCV002144028]likely benign82301570923015710Humanname
151722840CV1357968deletionNM_015178.3(RHOBTB2):c.785_796del (p.Asp262_Cys265del)not provided [RCV001945156]uncertain significance82300702923007040Humanname
402494590CV3183002deletionNM_015178.3(RHOBTB2):c.987_995del (p.His332_His334del)not provided [RCV003877310]uncertain significance82300722423007232Humanname
151715790CV1445571deletionNM_015178.3(RHOBTB2):c.988_1002del (p.His330_His334del)not provided [RCV002002902]uncertain significance82300722123007235Humanname
156070296CV1968665indelNM_015178.3(RHOBTB2):c.1933_1935delinsTAC (p.Lys645Tyr)Inborn genetic diseases [RCV002621223]|not provided [RCV002608547]benign|conflicting interpretations of pathogenicity|uncertain significance82301571023015712Humanname
156015385CV2177425duplicationNM_015178.3(RHOBTB2):c.1102_1119dup (p.Gly373_Asn374insAspGlyIleLeuArgGly)not provided [RCV003035457]likely benign|uncertain significance82300734423007345Humanname