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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


More than 1000 records found for search term Rbp3 (Displaying 1000)
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11599356CV310340single nucleotide variantNM_002900.3(RBP3):c.-13C>TRetinitis pigmentosa 66 [RCV001795920]|Retinitis pigmentosa [RCV000265054]|not provided [RCV004718257]benign|likely benign104734847247348472Human3name
11611445CV321483single nucleotide variantNM_002900.3(RBP3):c.*65C>TRetinitis pigmentosa [RCV000394902]uncertain significance104735752247357522Human2name
28907959CV865883single nucleotide variantNM_002900.3(RBP3):c.-83G>ARetinitis pigmentosa [RCV001107521]uncertain significance104734840247348402Human2name
11650311CV310380single nucleotide variantNM_002900.3(RBP3):c.*180T>CRetinitis pigmentosa [RCV000292261]uncertain significance104735763747357637Human2name
11610996CV321485single nucleotide variantNM_002900.3(RBP3):c.*388G>ARetinitis pigmentosa [RCV000388906]uncertain significance104735784547357845Human2name
28909979CV865901single nucleotide variantNM_002900.3(RBP3):c.*116A>CRetinitis pigmentosa [RCV001108764]uncertain significance104735757347357573Human2name
28909978CV865902single nucleotide variantNM_002900.3(RBP3):c.*219C>TRetinitis pigmentosa [RCV001108763]|not provided [RCV004707537]likely benign104735767647357676Human2name
28909975CV865903single nucleotide variantNM_002900.3(RBP3):c.*226C>GRetinitis pigmentosa [RCV001108762]uncertain significance104735768347357683Human2name
28909971CV865904single nucleotide variantNM_002900.3(RBP3):c.*266C>GRetinitis pigmentosa [RCV001108761]uncertain significance104735772347357723Human2name
127329682CV1120305single nucleotide variantNM_002900.3(RBP3):c.3054+9C>Tnot provided [RCV001470370]likely benign104735154747351547Humanname
152157813CV1629958single nucleotide variantNM_002900.3(RBP3):c.3245+8G>Cnot provided [RCV002202901]likely benign104735352347353523Humanname
156083678CV2079946single nucleotide variantNM_002900.3(RBP3):c.3246-7C>Anot provided [RCV002847471]likely benign104735536947355369Humanname
597886293CV3787393single nucleotide variantNM_002900.3(RBP3):c.3388+4C>Gnot provided [RCV005124959]uncertain significance104735552247355522Humanname
14693446CV620821deletionNM_002900.3(RBP3):c.3245+1delnot provided [RCV004800583]likely pathogenic|uncertain significance104735351547353515Humanname
38473209CV959933single nucleotide variantNM_002900.3(RBP3):c.3388+4C>TRetinal dystrophy [RCV004813934]|not provided [RCV001231707]uncertain significance104735552247355522Human2name
38495045CV959934single nucleotide variantNM_002900.3(RBP3):c.3388+5G>Anot provided [RCV001225467]uncertain significance104735552347355523Humanname
127238893CV1077085single nucleotide variantNM_002900.3(RBP3):c.3054+16G>Tnot provided [RCV001415186]likely benign104735155447351554Humanname
152054311CV1564194single nucleotide variantNM_002900.3(RBP3):c.3246-16G>Tnot provided [RCV002146047]likely benign104735536047355360Humanname
152125521CV1646190single nucleotide variantNM_002900.3(RBP3):c.3055-12C>Tnot provided [RCV002217349]benign104735331347353313Humanname
152067776CV1660154single nucleotide variantNM_002900.3(RBP3):c.3246-11C>Tnot provided [RCV002147664]likely benign104735536547355365Humanname
156411003CV1966821single nucleotide variantNM_002900.3(RBP3):c.3054+15A>Gnot provided [RCV002608130]likely benign104735155347351553Humanname
156157658CV1967714single nucleotide variantNM_002900.3(RBP3):c.3054+20T>Cnot provided [RCV002594354]likely benign104735155847351558Humanname
156003077CV1987957single nucleotide variantNM_002900.3(RBP3):c.3245+14G>Tnot provided [RCV002618542]likely benign104735352947353529Humanname
156353673CV2011887single nucleotide variantNM_002900.3(RBP3):c.3388+14C>Anot provided [RCV002720371]likely benign104735553247355532Humanname
155909146CV2077768single nucleotide variantNM_002900.3(RBP3):c.3245+15G>Tnot provided [RCV002858351]likely benign104735353047353530Humanname
156099896CV2179973single nucleotide variantNM_002900.3(RBP3):c.3389-10T>Cnot provided [RCV003054685]likely benign104735709247357092Humanname
405115065CV2953100single nucleotide variantNM_002900.3(RBP3):c.3054+18C>Anot provided [RCV003666827]likely benign104735155647351556Humanname
11605686CV322171deletionNM_002900.3(RBP3):c.-99_-97delRetinitis Pigmentosa, Recessive [RCV000322554]uncertain significance104734838447348386Human1name
597963236CV3753871single nucleotide variantNM_002900.3(RBP3):c.3245+11A>Gnot provided [RCV005082175]likely benign104735352647353526Humanname
597933217CV3780885single nucleotide variantNM_002900.3(RBP3):c.3245+18A>Gnot provided [RCV005116997]likely benign104735353347353533Humanname
11607980CV310374deletionNM_002900.3(RBP3):c.*165_*166delRetinitis Pigmentosa, Recessive [RCV000349500]uncertain significance104735762247357623Human1name
127276407CV1077065single nucleotide variantNM_002900.3(RBP3):c.75A>C (p.Pro25=)not provided [RCV001407153]likely benign104734855947348559Humanname
127257130CV1077066single nucleotide variantNM_002900.3(RBP3):c.79C>T (p.Leu27=)not provided [RCV001401374]likely benign104734856347348563Humanname
127263086CV1098720single nucleotide variantNM_002900.3(RBP3):c.54C>A (p.Gly18=)not provided [RCV001439205]likely benign104734853847348538Humanname
127330203CV1120290single nucleotide variantNM_002900.3(RBP3):c.42T>C (p.Cys14=)not provided [RCV001470738]likely benign104734852647348526Humanname
127321488CV1141142single nucleotide variantNM_002900.3(RBP3):c.33G>A (p.Val11=)not provided [RCV001504769]likely benign104734851747348517Humanname
156098351CV2103029single nucleotide variantNM_002900.3(RBP3):c.2T>C (p.Met1Thr)not provided [RCV002913306]uncertain significance104734848647348486Humanname
11636943CV271532single nucleotide variantNM_002900.3(RBP3):c.63C>T (p.His21=)not provided [RCV000276446]conflicting interpretations of pathogenicity|uncertain significance104734854747348547Humanname
11608957CV322173single nucleotide variantNM_002900.3(RBP3):c.78C>T (p.Ser26=)Retinitis pigmentosa [RCV000361842]|not provided [RCV000968171]benign|likely benign|uncertain significance104734856247348562Human2name
597851616CV3803793single nucleotide variantNM_002900.3(RBP3):c.87G>A (p.Leu29=)not provided [RCV005145510]likely benign104734857147348571Humanname
15139411CV737491single nucleotide variantNM_002900.3(RBP3):c.57C>T (p.Pro19=)not provided [RCV000899143]likely benign104734854147348541Humanname
126751384CV993830single nucleotide variantNM_002900.3(RBP3):c.5T>C (p.Met2Thr)not provided [RCV001307028]uncertain significance104734848947348489Humanname
127264542CV1077067single nucleotide variantNM_002900.3(RBP3):c.288C>T (p.Pro96=)not provided [RCV001403317]likely benign104734877247348772Humanname
152057191CV1567247single nucleotide variantNM_002900.3(RBP3):c.246G>C (p.Leu82=)not provided [RCV002146372]likely benign104734873047348730Humanname
152105814CV1612660single nucleotide variantNM_002900.3(RBP3):c.201G>A (p.Pro67=)not provided [RCV002173701]likely benign104734868547348685Humanname
156063794CV1925789single nucleotide variantNM_002900.3(RBP3):c.228C>T (p.Ala76=)not provided [RCV002621035]likely benign104734871247348712Humanname
155989937CV2170436single nucleotide variantNM_002900.3(RBP3):c.249C>T (p.Asn83=)not provided [RCV003034280]likely benign104734873347348733Humanname
11603978CV315428single nucleotide variantNM_002900.3(RBP3):c.258C>T (p.Arg86=)RBP3-related disorder [RCV003957561]|Retinitis pigmentosa [RCV000304815]|not provided [RCV001486186]likely benign|uncertain significance104734874247348742Human3name , alternate_id
405263046CV3188485single nucleotide variantNM_002900.3(RBP3):c.240C>T (p.Ser80=)Retinal dystrophy [RCV003889549]uncertain significance104734872447348724Human2name
597964555CV3754384single nucleotide variantNM_002900.3(RBP3):c.138G>A (p.Leu46=)not provided [RCV005082491]likely benign104734862247348622Humanname
597927195CV3778600single nucleotide variantNM_002900.3(RBP3):c.117C>T (p.Tyr39=)not provided [RCV005131123]likely benign104734860147348601Humanname
597854995CV3821715single nucleotide variantNM_002900.3(RBP3):c.180G>A (p.Glu60=)not provided [RCV005174193]likely benign104734866447348664Humanname
13515670CV488887single nucleotide variantNM_002900.3(RBP3):c.126G>A (p.Pro42=)Retinitis pigmentosa [RCV001106854]|not provided [RCV000594582]conflicting interpretations of pathogenicity|uncertain significance104734861047348610Human2name
15123057CV737492single nucleotide variantNM_002900.3(RBP3):c.120C>T (p.Cys40=)Retinitis pigmentosa [RCV001107520]|not provided [RCV000896345]benign|uncertain significance104734860447348604Human2name
126764074CV1009014single nucleotide variantNM_002900.3(RBP3):c.816C>T (p.Gly272=)not provided [RCV001319496]likely benign|uncertain significance104734930047349300Humanname
126762079CV1029559single nucleotide variantNM_002900.3(RBP3):c.501G>A (p.Leu167=)not provided [RCV001340874]likely benign|uncertain significance104734898547348985Humanname
127244466CV1077068single nucleotide variantNM_002900.3(RBP3):c.349C>T (p.Leu117=)not provided [RCV001393716]likely benign104734883347348833Humanname
127247672CV1077069single nucleotide variantNM_002900.3(RBP3):c.372G>A (p.Glu124=)not provided [RCV001399172]likely benign104734885647348856Humanname
127280342CV1077070single nucleotide variantNM_002900.3(RBP3):c.417G>A (p.Pro139=)not provided [RCV001409724]likely benign104734890147348901Humanname
127230363CV1077071single nucleotide variantNM_002900.3(RBP3):c.492C>A (p.Ala164=)not provided [RCV001394663]likely benign104734897647348976Humanname
127245415CV1077072single nucleotide variantNM_002900.3(RBP3):c.531C>G (p.Val177=)not provided [RCV001398717]likely benign104734901547349015Humanname
127232285CV1077073single nucleotide variantNM_002900.3(RBP3):c.966G>T (p.Leu322=)not provided [RCV001395626]likely benign104734945047349450Humanname
127251378CV1098721single nucleotide variantNM_002900.3(RBP3):c.964C>T (p.Leu322=)not provided [RCV001436550]likely benign104734944847349448Humanname
127267733CV1098722single nucleotide variantNM_002900.3(RBP3):c.990C>T (p.Val330=)not provided [RCV001429784]likely benign104734947447349474Humanname
127294639CV1120291single nucleotide variantNM_002900.3(RBP3):c.462C>T (p.His154=)not provided [RCV001452287]likely benign104734894647348946Humanname
127306716CV1120292single nucleotide variantNM_002900.3(RBP3):c.585C>T (p.His195=)not provided [RCV001455622]likely benign104734906947349069Humanname
127322000CV1120293single nucleotide variantNM_002900.3(RBP3):c.783A>T (p.Gly261=)not provided [RCV001467429]likely benign104734926747349267Humanname
127303198CV1120294single nucleotide variantNM_002900.3(RBP3):c.790C>T (p.Leu264=)not provided [RCV001454659]likely benign104734927447349274Humanname
127334898CV1120295single nucleotide variantNM_002900.3(RBP3):c.816C>G (p.Gly272=)not provided [RCV001473912]likely benign104734930047349300Humanname
127329145CV1120296single nucleotide variantNM_002900.3(RBP3):c.861G>T (p.Gly287=)not provided [RCV001470004]likely benign104734934547349345Humanname
127326763CV1141143single nucleotide variantNM_002900.3(RBP3):c.351G>A (p.Leu117=)RBP3-related disorder [RCV003956120]|not provided [RCV001506400]likely benign104734883547348835Human1name , alternate_id
127325896CV1141144single nucleotide variantNM_002900.3(RBP3):c.369T>C (p.His123=)not provided [RCV001485910]likely benign104734885347348853Humanname
127337788CV1141145single nucleotide variantNM_002900.3(RBP3):c.753G>A (p.Arg251=)not provided [RCV001493079]likely benign104734923747349237Humanname
151859951CV1344080single nucleotide variantNM_002900.3(RBP3):c.508C>A (p.Arg170=)not provided [RCV002034240]likely benign|uncertain significance104734899247348992Humanname
151775922CV1358582single nucleotide variantNM_002900.3(RBP3):c.80T>G (p.Leu27Arg)not provided [RCV001950608]uncertain significance104734856447348564Humanname
151790980CV1394440single nucleotide variantNM_002900.3(RBP3):c.41G>A (p.Cys14Tyr)Inborn genetic diseases [RCV002545390]|not provided [RCV002047104]uncertain significance104734852547348525Human1name
151892850CV1411508single nucleotide variantNM_002900.3(RBP3):c.73C>A (p.Pro25Thr)Inborn genetic diseases [RCV004671472]|not provided [RCV001944543]uncertain significance104734855747348557Human1name
151861926CV1423508single nucleotide variantNM_002900.3(RBP3):c.97A>G (p.Lys33Glu)not provided [RCV001997239]uncertain significance104734858147348581Humanname
151806855CV1462620single nucleotide variantNM_002900.3(RBP3):c.711C>T (p.Gly237=)not provided [RCV001991451]likely benign|uncertain significance104734919547349195Humanname
152109289CV1530076single nucleotide variantNM_002900.3(RBP3):c.318C>T (p.Thr106=)not provided [RCV002196557]likely benign104734880247348802Humanname
152056773CV1567167single nucleotide variantNM_002900.3(RBP3):c.900G>A (p.Gly300=)not provided [RCV002146328]likely benign104734938447349384Humanname
152064647CV1575417single nucleotide variantNM_002900.3(RBP3):c.885G>C (p.Thr295=)not provided [RCV002110604]likely benign104734936947349369Humanname
152061164CV1585106single nucleotide variantNM_002900.3(RBP3):c.939G>A (p.Leu313=)not provided [RCV002073694]likely benign104734942347349423Humanname
152175294CV1586316single nucleotide variantNM_002900.3(RBP3):c.498G>A (p.Val166=)not provided [RCV002184824]likely benign104734898247348982Humanname
152094718CV1603684single nucleotide variantNM_002900.3(RBP3):c.759C>T (p.Ile253=)not provided [RCV002213207]likely benign104734924347349243Humanname
152033882CV1621397single nucleotide variantNM_002900.3(RBP3):c.837G>T (p.Thr279=)not provided [RCV002205255]likely benign104734932147349321Humanname
152169380CV1637031single nucleotide variantNM_002900.3(RBP3):c.606C>T (p.Arg202=)not provided [RCV002182775]likely benign104734909047349090Humanname
152073234CV1637969single nucleotide variantNM_002900.3(RBP3):c.408C>T (p.Asp136=)not provided [RCV002192071]likely benign104734889247348892Humanname
152126240CV1646321single nucleotide variantNM_002900.3(RBP3):c.780G>A (p.Gly260=)not provided [RCV002217445]likely benign104734926447349264Humanname
152064112CV1652218single nucleotide variantNM_002900.3(RBP3):c.984G>A (p.Gly328=)not provided [RCV002090646]likely benign104734946847349468Humanname
156252208CV1883895single nucleotide variantNM_002900.3(RBP3):c.885G>A (p.Thr295=)not provided [RCV003086144]likely benign104734936947349369Humanname
10049423CV190404single nucleotide variantNM_002900.3(RBP3):c.837G>A (p.Thr279=)Retinal dystrophy [RCV003888614]|Retinitis pigmentosa 66 [RCV001795291]|Retinitis pigmentosa [RCV000300475]|not provided [RCV001517121]|not specified [RCV000173287]benign|likely benign104734932147349321Human5name
156255795CV1977333single nucleotide variantNM_002900.3(RBP3):c.582G>A (p.Leu194=)not provided [RCV002597619]likely benign104734906647349066Humanname
156181622CV2001391single nucleotide variantNM_002900.3(RBP3):c.669C>A (p.Ala223=)not provided [RCV002643040]likely benign104734915347349153Humanname
155908097CV2017433single nucleotide variantNM_002900.3(RBP3):c.984G>T (p.Gly328=)not provided [RCV002681521]likely benign104734946847349468Humanname
156209736CV2018813single nucleotide variantNM_002900.3(RBP3):c.948C>T (p.Ala316=)not provided [RCV002700581]likely benign104734943247349432Humanname
155950823CV2026205single nucleotide variantNM_002900.3(RBP3):c.426G>A (p.Glu142=)not provided [RCV002730672]likely benign104734891047348910Humanname
10768783CV204535single nucleotide variantNM_002900.3(RBP3):c.53G>T (p.Gly18Val)Retinitis pigmentosa 66 [RCV000206962]uncertain significance104734853747348537Human1name
156267258CV2059661single nucleotide variantNM_002900.3(RBP3):c.603C>T (p.Asn201=)not provided [RCV002806536]likely benign104734908747349087Humanname
156014990CV2134096single nucleotide variantNM_002900.3(RBP3):c.864C>T (p.Pro288=)not provided [RCV003017944]likely benign104734934847349348Humanname
156272089CV2136601single nucleotide variantNM_002900.3(RBP3):c.315C>T (p.Leu105=)not provided [RCV003009304]likely benign104734879947348799Humanname
156017395CV2155232single nucleotide variantNM_002900.3(RBP3):c.543C>T (p.Pro181=)not provided [RCV003018061]likely benign104734902747349027Humanname
156292636CV2156481single nucleotide variantNM_002900.3(RBP3):c.975C>T (p.Ala325=)not provided [RCV003010029]likely benign104734945947349459Humanname
156003848CV2166548single nucleotide variantNM_002900.3(RBP3):c.705C>G (p.Thr235=)not provided [RCV003017401]likely benign104734918947349189Humanname
156070156CV2167326single nucleotide variantNM_002900.3(RBP3):c.672C>T (p.Asp224=)not provided [RCV003020016]likely benign104734915647349156Humanname
156380027CV2178988single nucleotide variantNM_002900.3(RBP3):c.951G>A (p.Leu317=)not provided [RCV003050415]likely benign104734943547349435Humanname
11641935CV268645single nucleotide variantNM_002900.3(RBP3):c.816C>A (p.Gly272=)not provided [RCV000880112]|not specified [RCV000364801]likely benign104734930047349300Humanname
405056622CV2931942single nucleotide variantNM_002900.3(RBP3):c.705C>T (p.Thr235=)not provided [RCV003580091]likely benign104734918947349189Humanname
402518945CV2936579single nucleotide variantNM_002900.3(RBP3):c.861G>A (p.Gly287=)not provided [RCV003663102]likely benign104734934547349345Humanname
405221258CV2969760single nucleotide variantNM_002900.3(RBP3):c.414C>A (p.Val138=)not provided [RCV003680619]likely benign104734889847348898Humanname
405217756CV2972272single nucleotide variantNM_002900.3(RBP3):c.843C>G (p.Pro281=)not provided [RCV003680178]likely benign104734932747349327Humanname
402516634CV2992108single nucleotide variantNM_002900.3(RBP3):c.637T>C (p.Leu213=)not provided [RCV003689917]likely benign104734912147349121Humanname
11611976CV310343single nucleotide variantNM_002900.3(RBP3):c.927C>T (p.Ala309=)Retinal dystrophy [RCV003888712]|Retinitis pigmentosa [RCV000401701]|not provided [RCV000961167]benign|uncertain significance104734941147349411Human4name
405121866CV3131567single nucleotide variantNM_002900.3(RBP3):c.499C>T (p.Leu167=)not provided [RCV003837431]likely benign104734898347348983Humanname
405217850CV3143716single nucleotide variantNM_002900.3(RBP3):c.669C>T (p.Ala223=)not provided [RCV003846686]likely benign104734915347349153Humanname
405072065CV3145345single nucleotide variantNM_002900.3(RBP3):c.870T>C (p.Gly290=)not provided [RCV003850930]likely benign104734935447349354Humanname
11598952CV322175single nucleotide variantNM_002900.3(RBP3):c.717C>T (p.Ala239=)Retinitis Pigmentosa, Recessive [RCV000261360]|not provided [RCV002059552]likely benign|uncertain significance104734920147349201Human1name
597919668CV3737988single nucleotide variantNM_002900.3(RBP3):c.708G>A (p.Arg236=)not provided [RCV005074587]likely benign104734919247349192Humanname
597934256CV3750424single nucleotide variantNM_002900.3(RBP3):c.705C>A (p.Thr235=)not provided [RCV005076349]likely benign104734918947349189Humanname
597921182CV3811819single nucleotide variantNM_002900.3(RBP3):c.984G>C (p.Gly328=)not provided [RCV005155650]likely benign104734946847349468Humanname
597840477CV3825326single nucleotide variantNM_002900.3(RBP3):c.402G>A (p.Arg134=)not provided [RCV005172009]likely benign104734888647348886Humanname
597975971CV3829004single nucleotide variantNM_002900.3(RBP3):c.618C>T (p.Thr206=)not provided [RCV005169453]likely benign104734910247349102Humanname
598128633CV3887838single nucleotide variantNM_002900.3(RBP3):c.381G>A (p.Glu127=)not provided [RCV005244012]likely benign104734886547348865Humanname
13515323CV489433single nucleotide variantNM_002900.3(RBP3):c.843C>T (p.Pro281=)Retinal dystrophy [RCV003889929]|Retinitis pigmentosa [RCV001106850]|not provided [RCV000888334]|not specified [RCV000594133]benign|likely benign|uncertain significance104734932747349327Human4name
15195956CV723954single nucleotide variantNM_002900.3(RBP3):c.924G>A (p.Pro308=)Retinitis pigmentosa [RCV001105737]|not provided [RCV000889648]benign104734940847349408Human2name
15167190CV752107single nucleotide variantNM_002900.3(RBP3):c.729G>A (p.Ala243=)not provided [RCV000927036]likely benign104734921347349213Humanname
15113726CV767749single nucleotide variantNM_002900.3(RBP3):c.411C>T (p.Ser137=)Retinal dystrophy [RCV003890092]|not provided [RCV000939180]likely benign104734889547348895Human2name
15107137CV783593single nucleotide variantNM_002900.3(RBP3):c.396C>T (p.Tyr132=)not provided [RCV000976763]likely benign104734888047348880Humanname
15121088CV783594single nucleotide variantNM_002900.3(RBP3):c.519A>G (p.Thr173=)not provided [RCV000979405]likely benign104734900347349003Humanname
15103427CV783595single nucleotide variantNM_002900.3(RBP3):c.972C>T (p.Ser324=)RBP3-related disorder [RCV003953354]|not provided [RCV000976015]likely benign104734945647349456Human1name , alternate_id
28906795CV865884single nucleotide variantNM_002900.3(RBP3):c.579C>T (p.Ile193=)Retinitis pigmentosa [RCV001106852]|not provided [RCV001483780]likely benign|uncertain significance104734906347349063Human2name
38479330CV946901deletionNM_002900.3(RBP3):c.288del (p.Glu97fs)not provided [RCV001234247]pathogenic104734876847348768Humanname
38491504CV956057single nucleotide variantNM_002900.3(RBP3):c.93G>A (p.Met31Ile)not provided [RCV001239489]uncertain significance104734857747348577Humanname
126754021CV993836single nucleotide variantNM_002900.3(RBP3):c.435C>T (p.Ser145=)not provided [RCV001307532]likely benign|uncertain significance104734891947348919Humanname
126739943CV1009008single nucleotide variantNM_002900.3(RBP3):c.200C>T (p.Pro67Leu)Inborn genetic diseases [RCV003263961]|not provided [RCV001325127]uncertain significance104734868447348684Human1name
126768436CV1009009single nucleotide variantNM_002900.3(RBP3):c.293C>T (p.Pro98Leu)not provided [RCV001321362]uncertain significance104734877747348777Humanname
126758756CV1009034single nucleotide variantNM_002900.3(RBP3):c.2625C>T (p.Gly875=)not provided [RCV001317867]likely benign|uncertain significance104735110947351109Humanname
126768350CV1029557single nucleotide variantNM_002900.3(RBP3):c.289G>A (p.Glu97Lys)not provided [RCV001343307]uncertain significance104734877347348773Humanname
126924776CV1046548single nucleotide variantNM_002900.3(RBP3):c.224C>T (p.Thr75Ile)not provided [RCV001367422]uncertain significance104734870847348708Humanname
126921522CV1046549single nucleotide variantNM_002900.3(RBP3):c.296C>T (p.Pro99Leu)not provided [RCV001363592]uncertain significance104734878047348780Humanname
127230259CV1077074single nucleotide variantNM_002900.3(RBP3):c.1035C>T (p.Asp345=)not provided [RCV001394647]likely benign104734951947349519Humanname
127252889CV1077075single nucleotide variantNM_002900.3(RBP3):c.1050G>A (p.Leu350=)not provided [RCV001400432]likely benign104734953447349534Humanname
127254679CV1077076single nucleotide variantNM_002900.3(RBP3):c.1065C>T (p.Ala355=)not provided [RCV001400849]likely benign104734954947349549Humanname
127232068CV1077077single nucleotide variantNM_002900.3(RBP3):c.1206C>T (p.Asp402=)RBP3-related disorder [RCV003953708]|not provided [RCV001395547]likely benign104734969047349690Human1name , alternate_id
127254822CV1077078single nucleotide variantNM_002900.3(RBP3):c.1617G>A (p.Leu539=)not provided [RCV001400874]likely benign104735010147350101Humanname
127281648CV1077079single nucleotide variantNM_002900.3(RBP3):c.1674G>T (p.Ser558=)not provided [RCV001410618]likely benign104735015847350158Humanname
127262027CV1077080single nucleotide variantNM_002900.3(RBP3):c.1888C>T (p.Leu630=)RBP3-related disorder [RCV003953731]|not provided [RCV001402546]likely benign104735037247350372Human1name , alternate_id
127252930CV1077081single nucleotide variantNM_002900.3(RBP3):c.2124G>A (p.Leu708=)not provided [RCV001400438]likely benign104735060847350608Humanname
127257040CV1077082single nucleotide variantNM_002900.3(RBP3):c.2463G>A (p.Thr821=)not provided [RCV001401358]likely benign104735094747350947Humanname
127232650CV1077083single nucleotide variantNM_002900.3(RBP3):c.2919C>A (p.Ser973=)not provided [RCV001395801]likely benign104735140347351403Humanname
127283754CV1077084single nucleotide variantNM_002900.3(RBP3):c.2940C>T (p.Ala980=)not provided [RCV001412000]likely benign104735142447351424Humanname
127252467CV1098723single nucleotide variantNM_002900.3(RBP3):c.1170C>T (p.Ile390=)Retinal dystrophy [RCV003888132]|not provided [RCV001425836]likely benign104734965447349654Human2name
127251741CV1098724single nucleotide variantNM_002900.3(RBP3):c.1197C>T (p.Pro399=)not provided [RCV001425677]likely benign104734968147349681Humanname
127245191CV1098725single nucleotide variantNM_002900.3(RBP3):c.1290C>T (p.Phe430=)not provided [RCV001435173]likely benign104734977447349774Humanname
127250981CV1098726single nucleotide variantNM_002900.3(RBP3):c.1347C>T (p.Asp449=)not provided [RCV001425476]likely benign104734983147349831Humanname
127232518CV1098727single nucleotide variantNM_002900.3(RBP3):c.1386C>T (p.Arg462=)not provided [RCV001421341]likely benign104734987047349870Humanname
127266361CV1098728single nucleotide variantNM_002900.3(RBP3):c.1479G>A (p.Leu493=)not provided [RCV001429376]likely benign104734996347349963Humanname
127239107CV1098729single nucleotide variantNM_002900.3(RBP3):c.1599C>T (p.Thr533=)not provided [RCV001433908]likely benign104735008347350083Humanname
127275894CV1098730single nucleotide variantNM_002900.3(RBP3):c.1635C>T (p.Thr545=)not provided [RCV001443546]likely benign104735011947350119Humanname
127274551CV1098731single nucleotide variantNM_002900.3(RBP3):c.1710G>T (p.Ala570=)not provided [RCV001442891]likely benign104735019447350194Humanname
127278813CV1098732single nucleotide variantNM_002900.3(RBP3):c.1866C>A (p.Ala622=)RBP3-related disorder [RCV003938789]|not provided [RCV001445334]likely benign104735035047350350Human1name , alternate_id
127234860CV1098733single nucleotide variantNM_002900.3(RBP3):c.1869G>A (p.Leu623=)not provided [RCV001432975]likely benign104735035347350353Humanname
127273832CV1098734single nucleotide variantNM_002900.3(RBP3):c.2325G>A (p.Thr775=)not provided [RCV001431734]likely benign104735080947350809Humanname
127255324CV1098736single nucleotide variantNM_002900.3(RBP3):c.2502C>T (p.Tyr834=)not provided [RCV001426531]likely benign104735098647350986Humanname
127233411CV1098737single nucleotide variantNM_002900.3(RBP3):c.2763C>T (p.Ser921=)not provided [RCV001421758]likely benign104735124747351247Humanname
127275308CV1098738single nucleotide variantNM_002900.3(RBP3):c.2922G>A (p.Arg974=)not provided [RCV001443275]likely benign104735140647351406Humanname
127308917CV1120297single nucleotide variantNM_002900.3(RBP3):c.1026G>A (p.Thr342=)not provided [RCV001456187]likely benign104734951047349510Humanname
127306809CV1120298single nucleotide variantNM_002900.3(RBP3):c.1215C>T (p.Ala405=)not provided [RCV001462860]likely benign104734969947349699Humanname
127337574CV1120299single nucleotide variantNM_002900.3(RBP3):c.1413G>A (p.Thr471=)not provided [RCV001475743]likely benign104734989747349897Humanname
127329909CV1120300single nucleotide variantNM_002900.3(RBP3):c.1482C>T (p.Ser494=)not provided [RCV001470484]likely benign104734996647349966Humanname
127323195CV1120301single nucleotide variantNM_002900.3(RBP3):c.1968C>T (p.Val656=)not provided [RCV001467826]likely benign104735045247350452Humanname
127337246CV1120302single nucleotide variantNM_002900.3(RBP3):c.2571C>T (p.His857=)not provided [RCV001475529]likely benign104735105547351055Humanname
127329161CV1120303single nucleotide variantNM_002900.3(RBP3):c.2829G>A (p.Thr943=)not provided [RCV001470011]likely benign104735131347351313Humanname
127311486CV1120304single nucleotide variantNM_002900.3(RBP3):c.2946C>T (p.Ala982=)not provided [RCV001464170]likely benign104735143047351430Humanname
127287016CV1141146single nucleotide variantNM_002900.3(RBP3):c.1803T>C (p.Asn601=)not provided [RCV001494670]likely benign104735028747350287Humanname
127300521CV1141147single nucleotide variantNM_002900.3(RBP3):c.1842T>C (p.Asp614=)not provided [RCV001498610]likely benign104735032647350326Humanname
127323262CV1141148single nucleotide variantNM_002900.3(RBP3):c.2103G>A (p.Val701=)not provided [RCV001485186]likely benign104735058747350587Humanname
127321006CV1141149single nucleotide variantNM_002900.3(RBP3):c.2448C>T (p.Ala816=)not provided [RCV001484408]likely benign104735093247350932Humanname
127333617CV1141150single nucleotide variantNM_002900.3(RBP3):c.2584C>T (p.Leu862=)not provided [RCV001490293]likely benign104735106847351068Humanname
127336338CV1141151single nucleotide variantNM_002900.3(RBP3):c.2805C>G (p.Ala935=)not provided [RCV001492089]likely benign104735128947351289Humanname
127330462CV1141152single nucleotide variantNM_002900.3(RBP3):c.2865C>T (p.Ala955=)not provided [RCV001488173]likely benign104735134947351349Humanname
127314499CV1156416single nucleotide variantNM_002900.3(RBP3):c.2088C>T (p.Asp696=)not provided [RCV001519648]benign104735057247350572Humanname
151726068CV1337678deletionNM_002900.3(RBP3):c.529del (p.Val177fs)not provided [RCV001945535]pathogenic104734901247349012Humanname
151838531CV1344790single nucleotide variantNM_002900.3(RBP3):c.170A>T (p.Lys57Met)not provided [RCV002015055]uncertain significance104734865447348654Humanname
151840432CV1345880single nucleotide variantNM_002900.3(RBP3):c.1095G>A (p.Glu365=)not provided [RCV001902772]likely benign|uncertain significance104734957947349579Humanname
151879075CV1359811single nucleotide variantNM_002900.3(RBP3):c.257G>A (p.Arg86His)not provided [RCV002036620]uncertain significance104734874147348741Humanname
151777212CV1381097single nucleotide variantNM_002900.3(RBP3):c.1335T>C (p.Asp445=)not provided [RCV002045799]likely benign|uncertain significance104734981947349819Humanname
151861598CV1386291single nucleotide variantNM_002900.3(RBP3):c.215G>A (p.Ser72Asn)not provided [RCV001905351]uncertain significance104734869947348699Humanname
151818483CV1397485single nucleotide variantNM_002900.3(RBP3):c.2373G>A (p.Thr791=)not provided [RCV001992533]likely benign|uncertain significance104735085747350857Humanname
151824678CV1442641single nucleotide variantNM_002900.3(RBP3):c.265A>G (p.Ile89Val)not provided [RCV002013726]uncertain significance104734874947348749Humanname
151850677CV1460296single nucleotide variantNM_002900.3(RBP3):c.179A>G (p.Glu60Gly)not provided [RCV001904054]uncertain significance104734866347348663Humanname
151888775CV1468476single nucleotide variantNM_002900.3(RBP3):c.118T>G (p.Cys40Gly)not provided [RCV002001153]uncertain significance104734860247348602Humanname
151737764CV1469462single nucleotide variantNM_002900.3(RBP3):c.2817G>A (p.Thr939=)not provided [RCV002041909]likely benign|uncertain significance104735130147351301Humanname
151890934CV1473168deletionNM_002900.3(RBP3):c.901del (p.Val301fs)not provided [RCV001888544]pathogenic104734938247349382Humanname
151711899CV1474328single nucleotide variantNM_002900.3(RBP3):c.229G>A (p.Gly77Arg)Inborn genetic diseases [RCV004953287]|not provided [RCV001908187]uncertain significance104734871347348713Human1name
151748153CV1478781single nucleotide variantNM_002900.3(RBP3):c.206C>T (p.Thr69Met)not provided [RCV002023077]uncertain significance104734869047348690Humanname
151783643CV1508317single nucleotide variantNM_002900.3(RBP3):c.256C>T (p.Arg86Cys)not provided [RCV002009967]uncertain significance104734874047348740Humanname
152098708CV1530920single nucleotide variantNM_002900.3(RBP3):c.2361C>A (p.Gly787=)not provided [RCV002132978]likely benign104735084547350845Humanname
152052889CV1531864single nucleotide variantNM_002900.3(RBP3):c.1857C>T (p.Ala619=)RBP3-related disorder [RCV004731226]|Retinal dystrophy [RCV003889020]|not provided [RCV002072601]likely benign|uncertain significance104735034147350341Human3name , alternate_id
152059851CV1532796single nucleotide variantNM_002900.3(RBP3):c.1527C>G (p.Thr509=)not provided [RCV002208520]likely benign104735001147350011Humanname
152152486CV1545914single nucleotide variantNM_002900.3(RBP3):c.1098A>G (p.Glu366=)RBP3-related disorder [RCV003984170]|not provided [RCV002179668]likely benign104734958247349582Human1name , alternate_id
152032331CV1548974single nucleotide variantNM_002900.3(RBP3):c.1854G>C (p.Leu618=)not provided [RCV002086556]likely benign104735033847350338Humanname
152165701CV1556962single nucleotide variantNM_002900.3(RBP3):c.1677G>T (p.Leu559=)not provided [RCV002181790]likely benign104735016147350161Humanname
152150199CV1559428single nucleotide variantNM_002900.3(RBP3):c.1755C>G (p.Pro585=)not provided [RCV002220689]likely benign104735023947350239Humanname
152029869CV1565835single nucleotide variantNM_002900.3(RBP3):c.2817G>T (p.Thr939=)not provided [RCV002085951]likely benign104735130147351301Humanname
152067904CV1566978single nucleotide variantNM_002900.3(RBP3):c.2979C>T (p.Ser993=)Retinal dystrophy [RCV003889041]|not provided [RCV002091178]likely benign|uncertain significance104735146347351463Human2name
152091752CV1567663single nucleotide variantNM_002900.3(RBP3):c.1623C>T (p.Thr541=)not provided [RCV002212823]likely benign104735010747350107Humanname
152127480CV1572092single nucleotide variantNM_002900.3(RBP3):c.1527C>T (p.Thr509=)not provided [RCV002217608]likely benign104735001147350011Humanname
152087387CV1574064single nucleotide variantNM_002900.3(RBP3):c.2280G>A (p.Val760=)not provided [RCV002150121]likely benign104735076447350764Humanname
152070147CV1579728single nucleotide variantNM_002900.3(RBP3):c.2772T>C (p.Leu924=)not provided [RCV002074992]likely benign104735125647351256Humanname
152089951CV1580746single nucleotide variantNM_002900.3(RBP3):c.1993C>A (p.Arg665=)not provided [RCV002094032]likely benign104735047747350477Humanname
152146130CV1582763single nucleotide variantNM_002900.3(RBP3):c.1602A>G (p.Gln534=)not provided [RCV002201265]likely benign104735008647350086Humanname
152068835CV1589095single nucleotide variantNM_002900.3(RBP3):c.2277C>T (p.Ala759=)not provided [RCV002209713]likely benign104735076147350761Humanname
152113147CV1595309single nucleotide variantNM_002900.3(RBP3):c.1137G>A (p.Ala379=)not provided [RCV002116819]likely benign104734962147349621Humanname
152128431CV1596548single nucleotide variantNM_002900.3(RBP3):c.1710G>A (p.Ala570=)not provided [RCV002118757]likely benign104735019447350194Humanname
152171982CV1597930single nucleotide variantNM_002900.3(RBP3):c.2031G>C (p.Val677=)not provided [RCV002162297]likely benign104735051547350515Humanname
152167794CV1611707single nucleotide variantNM_002900.3(RBP3):c.2829G>T (p.Thr943=)not provided [RCV002182261]likely benign104735131347351313Humanname
152049934CV1618699single nucleotide variantNM_002900.3(RBP3):c.2598G>A (p.Thr866=)not provided [RCV002166744]likely benign104735108247351082Humanname
152131851CV1621229single nucleotide variantNM_002900.3(RBP3):c.1299G>A (p.Ser433=)not provided [RCV002218179]likely benign104734978347349783Humanname
152052226CV1622600single nucleotide variantNM_002900.3(RBP3):c.2145A>G (p.Pro715=)not provided [RCV002207664]likely benign104735062947350629Humanname
152129924CV1630864single nucleotide variantNM_002900.3(RBP3):c.2002C>T (p.Leu668=)not provided [RCV002118949]likely benign104735048647350486Humanname
152093670CV1634184single nucleotide variantNM_002900.3(RBP3):c.1788C>T (p.Leu596=)not provided [RCV002213070]likely benign104735027247350272Humanname
152034838CV1639581single nucleotide variantNM_002900.3(RBP3):c.2475C>G (p.Thr825=)not provided [RCV002187322]likely benign104735095947350959Humanname
152040480CV1644141single nucleotide variantNM_002900.3(RBP3):c.1755C>T (p.Pro585=)not provided [RCV002126016]likely benign104735023947350239Humanname
152108979CV1648402single nucleotide variantNM_002900.3(RBP3):c.1303C>T (p.Leu435=)not provided [RCV002116297]likely benign104734978747349787Humanname
152170425CV1651079single nucleotide variantNM_002900.3(RBP3):c.2742C>T (p.Pro914=)RBP3-related disorder [RCV003951242]|not provided [RCV002143112]likely benign104735122647351226Human1name , alternate_id
152028757CV1655385single nucleotide variantNM_002900.3(RBP3):c.1551G>A (p.Thr517=)not provided [RCV002105348]likely benign104735003547350035Humanname
152118323CV1659014single nucleotide variantNM_002900.3(RBP3):c.1461T>C (p.Ser487=)not provided [RCV002175230]likely benign104734994547349945Humanname
152052858CV1659214single nucleotide variantNM_002900.3(RBP3):c.1173G>C (p.Gly391=)not provided [RCV002189623]likely benign104734965747349657Humanname
156059080CV1876104single nucleotide variantNM_002900.3(RBP3):c.229G>C (p.Gly77Arg)not provided [RCV003053277]uncertain significance104734871347348713Humanname
156304864CV1898517single nucleotide variantNM_002900.3(RBP3):c.2220C>T (p.Pro740=)not provided [RCV003088121]likely benign104735070447350704Humanname
10049424CV190405single nucleotide variantNM_002900.3(RBP3):c.1200G>A (p.Ala400=)not provided [RCV000173288]uncertain significance104734968447349684Humanname
156394776CV1958813single nucleotide variantNM_002900.3(RBP3):c.2799G>C (p.Leu933=)not provided [RCV002584260]likely benign104735128347351283Humanname
156417651CV1967091single nucleotide variantNM_002900.3(RBP3):c.2814C>T (p.Pro938=)not provided [RCV002590298]likely benign104735129847351298Humanname
156384739CV1971849single nucleotide variantNM_002900.3(RBP3):c.1047C>A (p.Thr349=)not provided [RCV002604217]likely benign104734953147349531Humanname
156419621CV1977716single nucleotide variantNM_002900.3(RBP3):c.1203C>T (p.Pro401=)not provided [RCV002612860]likely benign104734968747349687Humanname
156387616CV1982941single nucleotide variantNM_002900.3(RBP3):c.2487C>T (p.Val829=)not provided [RCV002634721]likely benign104735097147350971Humanname
156352890CV1985781single nucleotide variantNM_002900.3(RBP3):c.1926C>T (p.Gly642=)not provided [RCV002632109]likely benign104735041047350410Humanname
156386025CV1998136single nucleotide variantNM_002900.3(RBP3):c.1110C>G (p.Thr370=)not provided [RCV002653996]likely benign104734959447349594Humanname
156132885CV1998656single nucleotide variantNM_002900.3(RBP3):c.1320C>T (p.Gly440=)not provided [RCV002663285]likely benign104734980447349804Humanname
156274957CV2004884single nucleotide variantNM_002900.3(RBP3):c.2727G>A (p.Leu909=)not provided [RCV002646656]likely benign104735121147351211Humanname
156161417CV2009536single nucleotide variantNM_002900.3(RBP3):c.132C>G (p.Asn44Lys)not provided [RCV002710185]uncertain significance104734861647348616Humanname
156360394CV2016603single nucleotide variantNM_002900.3(RBP3):c.232G>A (p.Val78Met)not provided [RCV002720821]uncertain significance104734871647348716Humanname
156113961CV2018675single nucleotide variantNM_002900.3(RBP3):c.1608G>A (p.Gly536=)not provided [RCV002695778]likely benign104735009247350092Humanname
156218443CV2028779single nucleotide variantNM_002900.3(RBP3):c.282C>A (p.Ser94Arg)not provided [RCV002712044]uncertain significance104734876647348766Humanname
155958981CV2029744single nucleotide variantNM_002900.3(RBP3):c.1515C>T (p.His505=)not provided [RCV002731084]likely benign104734999947349999Humanname
155910966CV2033032single nucleotide variantNM_002900.3(RBP3):c.2340C>T (p.Ile780=)Retinal dystrophy [RCV003889157]|not provided [RCV002750133]likely benign|uncertain significance104735082447350824Human2name
155950090CV2046638single nucleotide variantNM_002900.3(RBP3):c.1734G>A (p.Thr578=)not provided [RCV002775725]likely benign104735021847350218Humanname
156111491CV2046997single nucleotide variantNM_002900.3(RBP3):c.2118C>G (p.Gly706=)not provided [RCV002761713]likely benign104735060247350602Humanname
156374180CV2052890single nucleotide variantNM_002900.3(RBP3):c.1746G>A (p.Leu582=)not provided [RCV002814550]likely benign104735023047350230Humanname
156191382CV2086766single nucleotide variantNM_002900.3(RBP3):c.1887G>A (p.Val629=)not provided [RCV002852150]likely benign104735037147350371Humanname
155900824CV2087615single nucleotide variantNM_002900.3(RBP3):c.2274G>A (p.Lys758=)not provided [RCV002857842]likely benign104735075847350758Humanname
156148805CV2090994single nucleotide variantNM_002900.3(RBP3):c.2928C>T (p.Thr976=)not provided [RCV002890582]likely benign104735141247351412Humanname
155994426CV2095664single nucleotide variantNM_002900.3(RBP3):c.2991C>T (p.His997=)not provided [RCV002908314]likely benign104735147547351475Humanname
156030110CV2125435single nucleotide variantNM_002900.3(RBP3):c.2523C>T (p.Tyr841=)not provided [RCV002949190]likely benign104735100747351007Humanname
156047846CV2144343single nucleotide variantNM_002900.3(RBP3):c.1077C>T (p.Phe359=)not provided [RCV002999771]likely benign104734956147349561Humanname
156089153CV2155528single nucleotide variantNM_002900.3(RBP3):c.1914C>A (p.Ala638=)not provided [RCV003020619]likely benign104735039847350398Humanname
156010037CV2160012single nucleotide variantNM_002900.3(RBP3):c.2598G>C (p.Thr866=)not provided [RCV003017692]likely benign104735108247351082Humanname
155995856CV2168666single nucleotide variantNM_002900.3(RBP3):c.1611G>A (p.Val537=)not provided [RCV003017049]likely benign104735009547350095Humanname
156370284CV2174403single nucleotide variantNM_002900.3(RBP3):c.1392G>A (p.Val464=)not provided [RCV003049644]likely benign104734987647349876Humanname
156370300CV2174405single nucleotide variantNM_002900.3(RBP3):c.1089C>A (p.Val363=)not provided [RCV003049645]likely benign104734957347349573Humanname
156338035CV2178351single nucleotide variantNM_002900.3(RBP3):c.2268A>C (p.Thr756=)not provided [RCV003047586]likely benign104735075247350752Humanname
156259639CV2181639single nucleotide variantNM_002900.3(RBP3):c.1863G>A (p.Glu621=)not provided [RCV003044073]likely benign104735034747350347Humanname
156082824CV2184283single nucleotide variantNM_002900.3(RBP3):c.2361C>G (p.Gly787=)not provided [RCV003054088]likely benign104735084547350845Humanname
156196829CV2190757single nucleotide variantNM_002900.3(RBP3):c.1476C>G (p.Leu492=)not provided [RCV003058022]likely benign104734996047349960Humanname
11050319CV226529single nucleotide variantNM_002900.3(RBP3):c.249C>A (p.Asn83Lys)Retinal dystrophy [RCV000210317]|not provided [RCV001038993]likely pathogenic|uncertain significance104734873347348733Human2name
329368673CV2453251single nucleotide variantNM_002900.3(RBP3):c.132C>A (p.Asn44Lys)Inborn genetic diseases [RCV003208690]uncertain significance104734861647348616Human1name
11640975CV270607single nucleotide variantNM_002900.3(RBP3):c.1581G>A (p.Pro527=)Retinitis pigmentosa [RCV001106784]|not provided [RCV000347622]conflicting interpretations of pathogenicity|uncertain significance104735006547350065Human2name
11636411CV271280single nucleotide variantNM_002900.3(RBP3):c.1641G>A (p.Thr547=)Retinal dystrophy [RCV003888684]|Retinitis pigmentosa [RCV001106781]|not provided [RCV000267203]likely benign|conflicting interpretations of pathogenicity|uncertain significance104735012547350125Human4name
401938262CV2813129single nucleotide variantNM_002900.3(RBP3):c.2493C>A (p.Gly831=)not provided [RCV003417351]likely benign104735097747350977Humanname
405240696CV2892932single nucleotide variantNM_002900.3(RBP3):c.1434G>A (p.Leu478=)not provided [RCV003557271]likely benign104734991847349918Humanname
402465385CV2916527single nucleotide variantNM_002900.3(RBP3):c.1836G>T (p.Val612=)not provided [RCV003569138]likely benign104735032047350320Humanname
405214937CV2925183single nucleotide variantNM_002900.3(RBP3):c.2373G>T (p.Thr791=)not provided [RCV003567606]likely benign104735085747350857Humanname
405074359CV2940516single nucleotide variantNM_002900.3(RBP3):c.2295G>C (p.Val765=)not provided [RCV003659532]likely benign104735077947350779Humanname
405182386CV2952587single nucleotide variantNM_002900.3(RBP3):c.1440C>T (p.His480=)not provided [RCV003676353]likely benign104734992447349924Humanname
405122410CV2954109single nucleotide variantNM_002900.3(RBP3):c.2196C>T (p.Ala732=)not provided [RCV003667561]likely benign104735068047350680Humanname
405231434CV2964549single nucleotide variantNM_002900.3(RBP3):c.1051C>T (p.Leu351=)not provided [RCV003682264]likely benign104734953547349535Humanname
405212778CV2984039single nucleotide variantNM_002900.3(RBP3):c.1899C>T (p.His633=)not provided [RCV003708859]likely benign104735038347350383Humanname
405231980CV2988412single nucleotide variantNM_002900.3(RBP3):c.2028T>C (p.Ala676=)not provided [RCV003711602]likely benign104735051247350512Humanname
405119936CV2993840single nucleotide variantNM_002900.3(RBP3):c.2262G>A (p.Leu754=)not provided [RCV003723717]likely benign104735074647350746Humanname
405207547CV2994507deletionNM_002900.3(RBP3):c.705del (p.Arg236fs)not provided [RCV003678887]pathogenic104734918847349188Humanname
405224713CV3041985deletionNM_002900.3(RBP3):c.304del (p.Val102fs)not provided [RCV003710494]pathogenic104734878847348788Humanname
11604578CV310344single nucleotide variantNM_002900.3(RBP3):c.1044C>T (p.Pro348=)Retinitis pigmentosa [RCV000310963]|not provided [RCV000914525]benign|uncertain significance104734952847349528Human2name
11611632CV310345single nucleotide variantNM_002900.3(RBP3):c.1083G>C (p.Thr361=)Retinitis pigmentosa [RCV000397627]|not provided [RCV000913373]likely benign|uncertain significance104734956747349567Human2name
11606417CV310352single nucleotide variantNM_002900.3(RBP3):c.1776C>G (p.Thr592=)Retinitis pigmentosa [RCV000331213]|not provided [RCV000916692]likely benign|uncertain significance104735026047350260Human2name
11609564CV310363single nucleotide variantNM_002900.3(RBP3):c.2619C>T (p.Ala873=)Retinitis pigmentosa [RCV000369770]|not provided [RCV000971293]|not specified [RCV001700043]benign|likely benign|uncertain significance104735110347351103Human2name
404980997CV3121024single nucleotide variantNM_002900.3(RBP3):c.2553G>A (p.Ala851=)not provided [RCV003826016]likely benign104735103747351037Humanname
404981856CV3121159single nucleotide variantNM_002900.3(RBP3):c.2295G>A (p.Val765=)not provided [RCV003826151]likely benign104735077947350779Humanname
405206151CV3126652single nucleotide variantNM_002900.3(RBP3):c.1122C>T (p.Ala374=)not provided [RCV003822586]likely benign104734960647349606Humanname
404988238CV3135536single nucleotide variantNM_002900.3(RBP3):c.2541C>T (p.Thr847=)not provided [RCV003826831]likely benign104735102547351025Humanname
404988947CV3135630single nucleotide variantNM_002900.3(RBP3):c.2514G>A (p.Lys838=)not provided [RCV003826925]likely benign104735099847350998Humanname
405158384CV3152525single nucleotide variantNM_002900.3(RBP3):c.1740G>A (p.Pro580=)not provided [RCV003840452]likely benign104735022447350224Humanname
11605576CV315441single nucleotide variantNM_002900.3(RBP3):c.1323C>T (p.Tyr441=)Retinitis pigmentosa [RCV000320988]|not provided [RCV002520590]likely benign|uncertain significance104734980747349807Human2name
11605254CV315449single nucleotide variantNM_002900.3(RBP3):c.1674G>A (p.Ser558=)Retinitis pigmentosa [RCV000317370]|not provided [RCV001493698]likely benign|uncertain significance104735015847350158Human2name
11609651CV315451single nucleotide variantNM_002900.3(RBP3):c.1809C>T (p.Gly603=)Retinitis pigmentosa [RCV000370821]|not provided [RCV000956821]benign|uncertain significance104735029347350293Human2name
11611430CV315468single nucleotide variantNM_002900.3(RBP3):c.2095T>C (p.Leu699=)Retinitis pigmentosa [RCV000394623]|not provided [RCV001522642]benign|likely benign104735057947350579Human2name
11657314CV315474single nucleotide variantNM_002900.3(RBP3):c.2121G>A (p.Glu707=)RBP3-related disorder [RCV003950008]|Retinitis pigmentosa [RCV000340217]|not provided [RCV002059551]likely benign|uncertain significance104735060547350605Human3name , alternate_id
11601325CV315475single nucleotide variantNM_002900.3(RBP3):c.2481C>T (p.Pro827=)Retinitis pigmentosa [RCV000281267]|not provided [RCV001424779]likely benign|uncertain significance104735096547350965Human2name
405142683CV3155364single nucleotide variantNM_002900.3(RBP3):c.1959G>A (p.Arg653=)not provided [RCV003855602]likely benign104735044347350443Humanname
405263002CV3188471single nucleotide variantNM_002900.3(RBP3):c.1620C>T (p.Leu540=)Retinal dystrophy [RCV003889535]uncertain significance104735010447350104Human2name
405263036CV3188478single nucleotide variantNM_002900.3(RBP3):c.1245G>A (p.Leu415=)Retinal dystrophy [RCV003889542]uncertain significance104734972947349729Human2name
405263039CV3188480single nucleotide variantNM_002900.3(RBP3):c.1191T>C (p.Ser397=)Retinal dystrophy [RCV003889544]uncertain significance104734967547349675Human2name
405263047CV3188486single nucleotide variantNM_002900.3(RBP3):c.240C>A (p.Ser80Arg)Retinal dystrophy [RCV003889550]uncertain significance104734872447348724Human2name
405274253CV3211606single nucleotide variantNM_002900.3(RBP3):c.2382G>A (p.Pro794=)RBP3-related disorder [RCV003951433]likely benign104735086647350866Humanname , trait , alternate_id
11600502CV321427single nucleotide variantNM_002900.3(RBP3):c.1806C>T (p.His602=)Retinitis pigmentosa [RCV000273913]|not provided [RCV001429406]|not specified [RCV001729517]benign|likely benign|uncertain significance104735029047350290Human2name
11610880CV321467single nucleotide variantNM_002900.3(RBP3):c.2556C>T (p.Ala852=)RBP3-related disorder [RCV003930265]|Retinitis pigmentosa [RCV000387230]|not provided [RCV001517656]benign|likely benign|uncertain significance104735104047351040Human3name , alternate_id
11602379CV322181single nucleotide variantNM_002900.3(RBP3):c.1179A>G (p.Thr393=)Retinitis pigmentosa [RCV000290120]|not provided [RCV001405063]likely benign|uncertain significance104734966347349663Human2name
11607320CV322208single nucleotide variantNM_002900.3(RBP3):c.2247C>T (p.Asp749=)Retinitis pigmentosa [RCV000341432]|not provided [RCV000959873]benign|likely benign104735073147350731Human2name
11600897CV322251single nucleotide variantNM_002900.3(RBP3):c.2616G>A (p.Thr872=)Retinitis pigmentosa [RCV000277626]|not provided [RCV001450861]likely benign|uncertain significance104735110047351100Human2name
11599902CV322268single nucleotide variantNM_002900.3(RBP3):c.2871G>T (p.Leu957=)Retinitis pigmentosa [RCV000269261]|not provided [RCV001422700]likely benign|uncertain significance104735135547351355Human2name
407467887CV3465104single nucleotide variantNM_002900.3(RBP3):c.289G>C (p.Glu97Gln)Inborn genetic diseases [RCV004660919]uncertain significance104734877347348773Human1name
597882911CV3741224single nucleotide variantNM_002900.3(RBP3):c.2859C>T (p.Ala953=)not provided [RCV005070131]likely benign104735134347351343Humanname
597848371CV3746468single nucleotide variantNM_002900.3(RBP3):c.1839C>G (p.Pro613=)not provided [RCV005060287]likely benign104735032347350323Humanname
597925289CV3748583single nucleotide variantNM_002900.3(RBP3):c.2895G>T (p.Leu965=)not provided [RCV005075231]likely benign104735137947351379Humanname
597946064CV3755490single nucleotide variantNM_002900.3(RBP3):c.1104G>A (p.Leu368=)not provided [RCV005078499]likely benign104734958847349588Humanname
597963565CV3791519single nucleotide variantNM_002900.3(RBP3):c.2520C>T (p.Leu840=)not provided [RCV005139273]likely benign104735100447351004Humanname
597891286CV3805099single nucleotide variantNM_002900.3(RBP3):c.1266G>T (p.Arg422=)not provided [RCV005151361]likely benign104734975047349750Humanname
597918873CV3811594single nucleotide variantNM_002900.3(RBP3):c.1302G>A (p.Val434=)not provided [RCV005155425]likely benign104734978647349786Humanname
597950788CV3815218single nucleotide variantNM_002900.3(RBP3):c.2823G>A (p.Leu941=)not provided [RCV005161168]likely benign104735130747351307Humanname
597960679CV3815541single nucleotide variantNM_002900.3(RBP3):c.1890G>A (p.Leu630=)not provided [RCV005163474]likely benign104735037447350374Humanname
597967211CV3820328single nucleotide variantNM_002900.3(RBP3):c.1357C>T (p.Leu453=)not provided [RCV005165365]likely benign104734984147349841Humanname
597966419CV3823724single nucleotide variantNM_002900.3(RBP3):c.1650G>A (p.Glu550=)not provided [RCV005165144]likely benign104735013447350134Humanname
597845731CV3827868single nucleotide variantNM_002900.3(RBP3):c.2217G>A (p.Leu739=)not provided [RCV005172942]likely benign104735070147350701Humanname
597908458CV3829915single nucleotide variantNM_002900.3(RBP3):c.1156C>T (p.Leu386=)not provided [RCV005182484]likely benign104734964047349640Humanname
597908698CV3829951single nucleotide variantNM_002900.3(RBP3):c.2425C>T (p.Leu809=)not provided [RCV005182520]likely benign104735090947350909Humanname
15168810CV701357single nucleotide variantNM_002900.3(RBP3):c.2625C>A (p.Gly875=)not provided [RCV000949336]likely benign104735110947351109Humanname
15105579CV712377single nucleotide variantNM_002900.3(RBP3):c.1296G>A (p.Val432=)Retinitis pigmentosa [RCV002489347]|not provided [RCV000959912]benign|likely benign104734978047349780Human2name
15123498CV712378single nucleotide variantNM_002900.3(RBP3):c.2856T>C (p.Tyr952=)Retinitis pigmentosa [RCV001105544]|not provided [RCV000963252]likely benign|uncertain significance104735134047351340Human2name
15166176CV712379single nucleotide variantNM_002900.3(RBP3):c.2874G>A (p.Gly958=)not provided [RCV000971116]likely benign104735135847351358Humanname
15182594CV723955single nucleotide variantNM_002900.3(RBP3):c.1401G>A (p.Pro467=)not provided [RCV000886027]likely benign104734988547349885Humanname
15148009CV737493single nucleotide variantNM_002900.3(RBP3):c.1092C>T (p.Ser364=)not provided [RCV000900634]likely benign104734957647349576Humanname
15140805CV737494single nucleotide variantNM_002900.3(RBP3):c.1254C>T (p.Asp418=)not provided [RCV000899381]likely benign104734973847349738Humanname
15183596CV737495single nucleotide variantNM_002900.3(RBP3):c.1332C>T (p.Phe444=)not provided [RCV000908093]likely benign104734981647349816Humanname
15145241CV737496single nucleotide variantNM_002900.3(RBP3):c.1503C>T (p.Ala501=)Retinitis pigmentosa [RCV001107414]|Retinitis pigmentosa [RCV002502649]|not provided [RCV000900131]benign|likely benign104734998747349987Human2name
15188108CV737497single nucleotide variantNM_002900.3(RBP3):c.1635C>A (p.Thr545=)not provided [RCV000909275]benign104735011947350119Humanname
15198804CV752108single nucleotide variantNM_002900.3(RBP3):c.1464T>C (p.Ala488=)not provided [RCV000912362]likely benign104734994847349948Humanname
15193792CV767751single nucleotide variantNM_002900.3(RBP3):c.2118C>A (p.Gly706=)not provided [RCV000933459]likely benign104735060247350602Humanname
15178194CV767752single nucleotide variantNM_002900.3(RBP3):c.2331G>A (p.Ala777=)not provided [RCV000929338]likely benign104735081547350815Humanname
15174828CV767753single nucleotide variantNM_002900.3(RBP3):c.2490C>T (p.Ala830=)Retinal dystrophy [RCV003890081]|not provided [RCV000928527]likely benign104735097447350974Human2name
15133310CV783596single nucleotide variantNM_002900.3(RBP3):c.1770G>A (p.Ala590=)Retinal dystrophy [RCV003890144]|not provided [RCV000981533]likely benign104735025447350254Human2name
26920321CV836874single nucleotide variantNM_002900.3(RBP3):c.176A>G (p.His59Arg)not provided [RCV001047353]uncertain significance104734866047348660Humanname
28904763CV865889single nucleotide variantNM_002900.3(RBP3):c.1008C>T (p.Val336=)Retinitis pigmentosa [RCV001105732]uncertain significance104734949247349492Human2name
28906648CV865893single nucleotide variantNM_002900.3(RBP3):c.1647G>A (p.Ala549=)Retinitis pigmentosa [RCV001106780]|not provided [RCV005056892]likely benign|uncertain significance104735013147350131Human2name
28904584CV865894single nucleotide variantNM_002900.3(RBP3):c.1776C>T (p.Thr592=)Retinitis pigmentosa [RCV001105650]|not provided [RCV002067783]likely benign|uncertain significance104735026047350260Human2name
28910059CV865895single nucleotide variantNM_002900.3(RBP3):c.2184C>T (p.Tyr728=)Retinitis pigmentosa [RCV001108853]|not provided [RCV001457795]likely benign|uncertain significance104735066847350668Human2name
28904366CV865898single nucleotide variantNM_002900.3(RBP3):c.2898C>T (p.Ser966=)Retinal dystrophy [RCV003890248]|Retinitis pigmentosa [RCV001105543]|not provided [RCV001523422]benign|likely benign104735138247351382Human4name
8633637CV88852single nucleotide variantNM_002900.2(RBP3):c.1080C>T (p.Ser360=)Malignant melanoma [RCV000068947]not provided104734956447349564Humanname
38489510CV935051single nucleotide variantNM_002900.3(RBP3):c.1782G>A (p.Pro594=)RBP3-related disorder [RCV003898206]|not provided [RCV001210262]likely benign|uncertain significance104735026647350266Human1name , alternate_id
38491173CV956058single nucleotide variantNM_002900.3(RBP3):c.160C>T (p.Gln54Ter)Retinitis pigmentosa 66 [RCV001810002]|not provided [RCV001239290]pathogenic104734864447348644Human1name
38498768CV956059single nucleotide variantNM_002900.3(RBP3):c.188G>A (p.Ser63Asn)not provided [RCV001244023]uncertain significance104734867247348672Humanname
38498853CV956071single nucleotide variantNM_002900.3(RBP3):c.2118C>T (p.Gly706=)not provided [RCV001244083]likely benign|uncertain significance104735060247350602Humanname
38490955CV956073single nucleotide variantNM_002900.3(RBP3):c.2871G>A (p.Leu957=)not provided [RCV001239152]likely benign|uncertain significance104735135547351355Humanname
126754071CV993831single nucleotide variantNM_002900.3(RBP3):c.101T>G (p.Val34Gly)not provided [RCV001298039]uncertain significance104734858547348585Humanname
126754172CV993832single nucleotide variantNM_002900.3(RBP3):c.189C>G (p.Ser63Arg)not provided [RCV001298063]uncertain significance104734867347348673Humanname
126768474CV1009011single nucleotide variantNM_002900.3(RBP3):c.514T>C (p.Cys172Arg)not provided [RCV001321382]uncertain significance104734899847348998Humanname
126768231CV1009012single nucleotide variantNM_002900.3(RBP3):c.623C>T (p.Thr208Met)not provided [RCV001321248]uncertain significance104734910747349107Humanname
126769509CV1009013single nucleotide variantNM_002900.3(RBP3):c.769G>C (p.Glu257Gln)not provided [RCV001322002]uncertain significance104734925347349253Humanname
126774574CV1029558single nucleotide variantNM_002900.3(RBP3):c.469G>A (p.Gly157Arg)not provided [RCV001347384]uncertain significance104734895347348953Humanname
126742659CV1029560single nucleotide variantNM_002900.3(RBP3):c.670G>A (p.Asp224Asn)Inborn genetic diseases [RCV005262427]|not provided [RCV001351041]uncertain significance104734915447349154Human1name
126733769CV1029561single nucleotide variantNM_002900.3(RBP3):c.835A>G (p.Thr279Ala)not provided [RCV001349834]uncertain significance104734931947349319Humanname
126769793CV1029562single nucleotide variantNM_002900.3(RBP3):c.884C>T (p.Thr295Met)Inborn genetic diseases [RCV003346498]|not provided [RCV001344119]uncertain significance104734936847349368Human1name
126774329CV1029579single nucleotide variantNM_002900.3(RBP3):c.3624G>T (p.Gly1208=)not provided [RCV001347100]likely benign|uncertain significance104735733747357337Humanname
126915662CV1046550single nucleotide variantNM_002900.3(RBP3):c.299C>G (p.Pro100Arg)not provided [RCV001360120]uncertain significance104734878347348783Humanname
126915770CV1046551single nucleotide variantNM_002900.3(RBP3):c.325T>C (p.Ser109Pro)not provided [RCV001371110]uncertain significance104734880947348809Humanname
126919398CV1046552single nucleotide variantNM_002900.3(RBP3):c.622A>G (p.Thr208Ala)Inborn genetic diseases [RCV004037559]|not provided [RCV001373206]uncertain significance104734910647349106Human1name
126913765CV1046553single nucleotide variantNM_002900.3(RBP3):c.982G>A (p.Gly328Arg)not provided [RCV001359298]uncertain significance104734946647349466Humanname
127265061CV1061898deletionNM_002900.3(RBP3):c.1279del (p.Asp427fs)not provided [RCV001388347]pathogenic104734976247349762Humanname
127230172CV1077086single nucleotide variantNM_002900.3(RBP3):c.3114T>G (p.Leu1038=)not provided [RCV001412383]likely benign104735338447353384Humanname
127280497CV1077087single nucleotide variantNM_002900.3(RBP3):c.3171C>G (p.Thr1057=)not provided [RCV001409806]likely benign104735344147353441Humanname
127254722CV1077088single nucleotide variantNM_002900.3(RBP3):c.3651C>A (p.Val1217=)not provided [RCV001418613]likely benign104735736447357364Humanname
127255412CV1098739single nucleotide variantNM_002900.3(RBP3):c.3081G>A (p.Glu1027=)not provided [RCV001437459]likely benign104735335147353351Humanname
127275788CV1098740single nucleotide variantNM_002900.3(RBP3):c.3531A>C (p.Pro1177=)not provided [RCV001432519]likely benign104735724447357244Humanname
127297357CV1120306single nucleotide variantNM_002900.3(RBP3):c.3099C>T (p.Phe1033=)not provided [RCV001460231]likely benign104735336947353369Humanname
127301200CV1120307single nucleotide variantNM_002900.3(RBP3):c.3222G>A (p.Thr1074=)not provided [RCV001454075]likely benign104735349247353492Humanname
127303307CV1120308single nucleotide variantNM_002900.3(RBP3):c.3237C>T (p.Ile1079=)not provided [RCV001454701]likely benign104735350747353507Humanname
127303973CV1141153single nucleotide variantNM_002900.3(RBP3):c.3108C>T (p.Asn1036=)not provided [RCV001499523]likely benign104735337847353378Humanname
127313016CV1141154single nucleotide variantNM_002900.3(RBP3):c.3192G>A (p.Val1064=)not provided [RCV001481851]likely benign104735346247353462Humanname
127334861CV1141155single nucleotide variantNM_002900.3(RBP3):c.3375C>T (p.His1125=)not provided [RCV001491148]likely benign104735550547355505Humanname
127325723CV1141156single nucleotide variantNM_002900.3(RBP3):c.3411G>A (p.Lys1137=)not provided [RCV001485871]likely benign104735712447357124Humanname
127285992CV1141157single nucleotide variantNM_002900.3(RBP3):c.3441G>A (p.Thr1147=)not provided [RCV001493959]likely benign104735715447357154Humanname
127335550CV1141158single nucleotide variantNM_002900.3(RBP3):c.3477G>A (p.Lys1159=)not provided [RCV001491598]likely benign104735719047357190Humanname
127295187CV1141159single nucleotide variantNM_002900.3(RBP3):c.3483G>C (p.Leu1161=)not provided [RCV001497204]likely benign104735719647357196Humanname
127333762CV1141160single nucleotide variantNM_002900.3(RBP3):c.3525C>T (p.Cys1175=)RBP3-related disorder [RCV003938879]|not provided [RCV001490367]likely benign104735723847357238Human1name , alternate_id
127337126CV1141161single nucleotide variantNM_002900.3(RBP3):c.3669C>T (p.Leu1223=)not provided [RCV001492625]likely benign104735738247357382Humanname
150338666CV1174304single nucleotide variantNM_002900.3(RBP3):c.509G>A (p.Arg170Gln)Retinal dystrophy [RCV004815564]|Retinitis pigmentosa 66 [RCV001542765]|Retinitis pigmentosa [RCV005395067]|not provided [RCV002032542]likely pathogenic|uncertain significance104734899347348993Human5name
150486194CV1274341single nucleotide variantNM_002900.3(RBP3):c.3444C>T (p.Ala1148=)not provided [RCV001727937]|not specified [RCV001698890]benign|likely benign104735715747357157Humanname
151791655CV1341323single nucleotide variantNM_002900.3(RBP3):c.728C>T (p.Ala243Val)not provided [RCV001866303]uncertain significance104734921247349212Humanname
151778954CV1352126single nucleotide variantNM_002900.3(RBP3):c.3582G>A (p.Thr1194=)not provided [RCV002009558]likely benign|uncertain significance104735729547357295Humanname
151873338CV1359567single nucleotide variantNM_002900.3(RBP3):c.341T>A (p.Leu114His)not provided [RCV002019226]uncertain significance104734882547348825Humanname
151826700CV1359732single nucleotide variantNM_002900.3(RBP3):c.511C>A (p.His171Asn)not provided [RCV002050319]uncertain significance104734899547348995Humanname
151861938CV1365000single nucleotide variantNM_002900.3(RBP3):c.760G>C (p.Val254Leu)not provided [RCV002017859]uncertain significance104734924447349244Humanname
151812701CV1367588single nucleotide variantNM_002900.3(RBP3):c.733A>G (p.Ile245Val)not provided [RCV001878429]uncertain significance104734921747349217Humanname
151717388CV1368389single nucleotide variantNM_002900.3(RBP3):c.627G>T (p.Glu209Asp)not provided [RCV001965429]uncertain significance104734911147349111Humanname
151782112CV1369784single nucleotide variantNM_002900.3(RBP3):c.508C>T (p.Arg170Trp)Retinal dystrophy [RCV003888909]|not provided [RCV001930538]uncertain significance104734899247348992Human2name
151855152CV1372807single nucleotide variantNM_002900.3(RBP3):c.341T>C (p.Leu114Pro)not provided [RCV001996444]uncertain significance104734882547348825Humanname
151844450CV1381424single nucleotide variantNM_002900.3(RBP3):c.928G>A (p.Glu310Lys)not provided [RCV001881759]uncertain significance104734941247349412Humanname
151867378CV1381759single nucleotide variantNM_002900.3(RBP3):c.965T>G (p.Leu322Arg)not provided [RCV001939327]uncertain significance104734944947349449Humanname
151855292CV1387438single nucleotide variantNM_002900.3(RBP3):c.956T>C (p.Ile319Thr)not provided [RCV001958513]uncertain significance104734944047349440Humanname
151711901CV1396672single nucleotide variantNM_002900.3(RBP3):c.527A>G (p.Gln176Arg)not provided [RCV001889560]uncertain significance104734901147349011Humanname
151747027CV1399186single nucleotide variantNM_002900.3(RBP3):c.3453G>A (p.Ala1151=)not provided [RCV001912548]likely benign|uncertain significance104735716647357166Humanname
151746305CV1402004single nucleotide variantNM_002900.3(RBP3):c.919A>G (p.Thr307Ala)not provided [RCV002042764]uncertain significance104734940347349403Humanname
151744273CV1408699single nucleotide variantNM_002900.3(RBP3):c.748C>T (p.Arg250Cys)not provided [RCV002042554]uncertain significance104734923247349232Humanname
151852476CV1409307single nucleotide variantNM_002900.3(RBP3):c.462C>A (p.His154Gln)Inborn genetic diseases [RCV003299070]|not provided [RCV001937544]uncertain significance104734894647348946Human1name
151751117CV1426696single nucleotide variantNM_002900.3(RBP3):c.920C>T (p.Thr307Ile)not provided [RCV002006874]uncertain significance104734940447349404Humanname
151874057CV1430533single nucleotide variantNM_002900.3(RBP3):c.301C>G (p.Gln101Glu)not provided [RCV002036038]uncertain significance104734878547348785Humanname
151759513CV1443809single nucleotide variantNM_002900.3(RBP3):c.901G>T (p.Val301Leu)not provided [RCV001873073]uncertain significance104734938547349385Humanname
151708812CV1448850single nucleotide variantNM_002900.3(RBP3):c.923C>T (p.Pro308Leu)not provided [RCV001963864]uncertain significance104734940747349407Humanname
151869920CV1454053deletionNM_002900.3(RBP3):c.2086del (p.Asp696fs)not provided [RCV001906335]pathogenic104735056747350567Humanname
151740316CV1455313single nucleotide variantNM_002900.3(RBP3):c.859G>C (p.Gly287Arg)Inborn genetic diseases [RCV002579621]|not provided [RCV002005752]uncertain significance104734934347349343Human1name
151875707CV1459936single nucleotide variantNM_002900.3(RBP3):c.730C>A (p.His244Asn)not provided [RCV002036229]uncertain significance104734921447349214Humanname
151725670CV1462164single nucleotide variantNM_002900.3(RBP3):c.3237C>A (p.Ile1079=)not provided [RCV001966553]likely benign|uncertain significance104735350747353507Humanname
151873563CV1470213single nucleotide variantNM_002900.3(RBP3):c.436A>G (p.Met146Val)not provided [RCV001885579]uncertain significance104734892047348920Humanname
151791809CV1470937single nucleotide variantNM_002900.3(RBP3):c.710G>A (p.Gly237Asp)not provided [RCV001931490]uncertain significance104734919447349194Humanname
151842103CV1473508single nucleotide variantNM_002900.3(RBP3):c.401G>A (p.Arg134Gln)not provided [RCV002031944]uncertain significance104734888547348885Humanname
151854428CV1473599single nucleotide variantNM_002900.3(RBP3):c.836C>T (p.Thr279Met)not provided [RCV001904508]uncertain significance104734932047349320Humanname
151770695CV1481790single nucleotide variantNM_002900.3(RBP3):c.697A>G (p.Ser233Gly)not provided [RCV002008812]uncertain significance104734918147349181Humanname
151741109CV1492517single nucleotide variantNM_002900.3(RBP3):c.490G>C (p.Ala164Pro)not provided [RCV002042238]uncertain significance104734897447348974Humanname
151761896CV1496512single nucleotide variantNM_002900.3(RBP3):c.930G>T (p.Glu310Asp)not provided [RCV001895423]uncertain significance104734941447349414Humanname
151720479CV1498346single nucleotide variantNM_002900.3(RBP3):c.955A>G (p.Ile319Val)not provided [RCV001965896]uncertain significance104734943947349439Humanname
151741634CV1504284single nucleotide variantNM_002900.3(RBP3):c.631T>G (p.Trp211Gly)not provided [RCV002022376]uncertain significance104734911547349115Humanname
151811638CV1506763single nucleotide variantNM_002900.3(RBP3):c.952G>A (p.Ala318Thr)not provided [RCV001918667]uncertain significance104734943647349436Humanname
151865080CV1511601single nucleotide variantNM_002900.3(RBP3):c.722A>T (p.Asp241Val)Inborn genetic diseases [RCV005264126]|Retinitis pigmentosa [RCV002497897]|not provided [RCV001997630]uncertain significance104734920647349206Human3name
151749105CV1511960single nucleotide variantNM_002900.3(RBP3):c.607C>A (p.Pro203Thr)not provided [RCV001986091]uncertain significance104734909147349091Humanname
152076186CV1528518single nucleotide variantNM_002900.3(RBP3):c.3591T>C (p.Ser1197=)not provided [RCV002112136]likely benign104735730447357304Humanname
152152530CV1529578single nucleotide variantNM_002900.3(RBP3):c.3528G>A (p.Gln1176=)not provided [RCV002202192]likely benign104735724147357241Humanname
152176290CV1541391single nucleotide variantNM_002900.3(RBP3):c.3450C>T (p.Thr1150=)not provided [RCV002164435]likely benign104735716347357163Humanname
152118743CV1558223single nucleotide variantNM_002900.3(RBP3):c.3468T>C (p.Tyr1156=)not provided [RCV002135432]likely benign104735718147357181Humanname
152040663CV1561814single nucleotide variantNM_002900.3(RBP3):c.3396C>T (p.Arg1132=)not provided [RCV002188211]likely benign104735710947357109Humanname
152065286CV1576280single nucleotide variantNM_002900.3(RBP3):c.3651C>G (p.Val1217=)not provided [RCV002209243]likely benign104735736447357364Humanname
152037634CV1576388single nucleotide variantNM_002900.3(RBP3):c.3222G>T (p.Thr1074=)not provided [RCV002107257]likely benign104735349247353492Humanname
152044095CV1584165single nucleotide variantNM_002900.3(RBP3):c.3283T>C (p.Leu1095=)not provided [RCV002071390]likely benign104735541347355413Humanname
152123054CV1594128single nucleotide variantNM_002900.3(RBP3):c.3213C>A (p.Ile1071=)not provided [RCV002175834]likely benign104735348347353483Humanname
152064781CV1652431single nucleotide variantNM_002900.3(RBP3):c.3390T>A (p.Gly1130=)not provided [RCV002090741]likely benign104735710347357103Humanname
155746652CV1771659single nucleotide variantNM_002900.3(RBP3):c.319A>G (p.Ser107Gly)not provided [RCV002303439]uncertain significance104734880347348803Humanname
155794835CV1861058deletionNM_002900.3(RBP3):c.1472del (p.Leu491fs)Retinitis pigmentosa 66 [RCV002468771]likely pathogenic104734995647349956Human1name
10049428CV190409single nucleotide variantNM_002900.3(RBP3):c.973G>A (p.Ala325Thr)Retinal dystrophy [RCV004816254]|Retinitis pigmentosa 66 [RCV000206931]|not provided [RCV000173292]uncertain significance104734945747349457Human3name
156219688CV1924842single nucleotide variantNM_002900.3(RBP3):c.712G>A (p.Val238Met)not provided [RCV002644354]uncertain significance104734919647349196Humanname
156419417CV1932824single nucleotide variantNM_002900.3(RBP3):c.967C>A (p.Arg323Ser)not provided [RCV002612649]uncertain significance104734945147349451Humanname
155949588CV1935978deletionNM_002900.3(RBP3):c.1227del (p.Val411fs)not provided [RCV002511630]pathogenic|likely pathogenic104734971147349711Humanname
156443939CV1941216single nucleotide variantNM_002900.3(RBP3):c.3456G>A (p.Glu1152=)not provided [RCV003114851]likely benign104735716947357169Humanname
156216854CV1963363single nucleotide variantNM_002900.3(RBP3):c.3654T>C (p.Pro1218=)not provided [RCV002575364]likely benign104735736747357367Humanname
156417239CV1970276single nucleotide variantNM_002900.3(RBP3):c.968G>A (p.Arg323His)Retinitis pigmentosa [RCV005419474]|not provided [RCV002590085]uncertain significance104734945247349452Human2name
156411878CV1973790single nucleotide variantNM_002900.3(RBP3):c.3117G>A (p.Glu1039=)not provided [RCV002608376]likely benign104735338747353387Humanname
156419689CV1974093single nucleotide variantNM_002900.3(RBP3):c.421C>T (p.Gln141Ter)Retinal dystrophy [RCV004817057]|not provided [RCV002612928]pathogenic104734890547348905Human2name
156204093CV1974757single nucleotide variantNM_002900.3(RBP3):c.434G>C (p.Ser145Thr)not provided [RCV002625833]uncertain significance104734891847348918Humanname
156154901CV1991509single nucleotide variantNM_002900.3(RBP3):c.740A>G (p.Lys247Arg)not provided [RCV002642198]uncertain significance104734922447349224Humanname
156226590CV1991569single nucleotide variantNM_002900.3(RBP3):c.3714G>A (p.Lys1238=)not provided [RCV002626640]likely benign104735742747357427Humanname
156301944CV1998414single nucleotide variantNM_002900.3(RBP3):c.817G>A (p.Glu273Lys)Inborn genetic diseases [RCV004066785]|not provided [RCV002671200]uncertain significance104734930147349301Human1name
156111692CV1998524single nucleotide variantNM_002900.3(RBP3):c.898G>A (p.Gly300Arg)not provided [RCV002639965]uncertain significance104734938247349382Humanname
156332477CV2000679single nucleotide variantNM_002900.3(RBP3):c.985G>T (p.Val329Leu)not provided [RCV002649897]uncertain significance104734946947349469Humanname
156141876CV2002788single nucleotide variantNM_002900.3(RBP3):c.3261C>A (p.Gly1087=)not provided [RCV002663597]likely benign104735539147355391Humanname
156272739CV2004231single nucleotide variantNM_002900.3(RBP3):c.470G>A (p.Gly157Glu)not provided [RCV002646586]uncertain significance104734895447348954Humanname
156369236CV2007579single nucleotide variantNM_002900.3(RBP3):c.640C>A (p.Pro214Thr)not provided [RCV002676779]uncertain significance104734912447349124Humanname
156320165CV2014418single nucleotide variantNM_002900.3(RBP3):c.3039A>T (p.Gly1013=)not provided [RCV002672134]likely benign104735152347351523Humanname
156367802CV2021048single nucleotide variantNM_002900.3(RBP3):c.3396C>A (p.Arg1132=)not provided [RCV002721300]likely benign104735710947357109Humanname
10768821CV204536single nucleotide variantNM_002900.3(RBP3):c.365G>A (p.Arg122His)Retinitis pigmentosa 66 [RCV000207013]uncertain significance104734884947348849Human1name
10768768CV204537single nucleotide variantNM_002900.3(RBP3):c.463G>A (p.Val155Met)Retinitis pigmentosa 66 [RCV000206939]uncertain significance104734894747348947Human1name
10768780CV204538single nucleotide variantNM_002900.3(RBP3):c.487T>C (p.Ser163Pro)Retinitis pigmentosa 66 [RCV000206958]|Retinitis pigmentosa [RCV001106853]|not provided [RCV000968659]benign|uncertain significance104734897147348971Human3name
10768816CV204539single nucleotide variantNM_002900.3(RBP3):c.586G>A (p.Val196Met)Retinal dystrophy [RCV003888639]|Retinitis pigmentosa 66 [RCV000207007]uncertain significance104734907047349070Human3name
10768763CV204540single nucleotide variantNM_002900.3(RBP3):c.800G>A (p.Arg267Gln)Optic atrophy [RCV004816318]|Retinitis pigmentosa 66 [RCV000206934]|not provided [RCV001243043]uncertain significance104734928447349284Human3name
10768800CV204541single nucleotide variantNM_002900.3(RBP3):c.844G>A (p.Val282Met)Retinitis pigmentosa 66 [RCV000206985]|not provided [RCV001060350]uncertain significance104734932847349328Human1name
10768732CV204542single nucleotide variantNM_002900.3(RBP3):c.962C>T (p.Thr321Ile)Retinitis pigmentosa 66 [RCV000206892]|Retinitis pigmentosa [RCV001105735]|not provided [RCV001201499]uncertain significance104734944647349446Human3name
156106456CV2076018single nucleotide variantNM_002900.3(RBP3):c.3123C>T (p.Asn1041=)not provided [RCV002870727]likely benign104735339347353393Humanname
156226032CV2081105single nucleotide variantNM_002900.3(RBP3):c.3481C>T (p.Leu1161=)not provided [RCV002853391]likely benign104735719447357194Humanname
155906220CV2084211single nucleotide variantNM_002900.3(RBP3):c.3729G>C (p.Leu1243=)not provided [RCV002858170]likely benign104735744247357442Humanname
156309024CV2085849single nucleotide variantNM_002900.3(RBP3):c.3309C>A (p.Gly1103=)not provided [RCV002898605]likely benign104735543947355439Humanname
156203909CV2110180single nucleotide variantNM_002900.3(RBP3):c.542C>T (p.Pro181Leu)not provided [RCV002957482]uncertain significance104734902647349026Humanname
156286491CV2114904single nucleotide variantNM_002900.3(RBP3):c.973G>C (p.Ala325Pro)not provided [RCV002921971]uncertain significance104734945747349457Humanname
156326764CV2116064single nucleotide variantNM_002900.3(RBP3):c.772C>T (p.Arg258Trp)not provided [RCV002938127]uncertain significance104734925647349256Humanname
156366533CV2116600single nucleotide variantNM_002900.3(RBP3):c.3576C>T (p.Ile1192=)not provided [RCV002941992]likely benign104735728947357289Humanname
155901637CV2126972single nucleotide variantNM_002900.3(RBP3):c.810G>C (p.Arg270Ser)Inborn genetic diseases [RCV003348960]|not provided [RCV002967458]uncertain significance104734929447349294Human1name
156250400CV2130035single nucleotide variantNM_002900.3(RBP3):c.596T>C (p.Ile199Thr)Retinal dystrophy [RCV003889193]|not provided [RCV002959189]uncertain significance104734908047349080Human2name
156050552CV2140818single nucleotide variantNM_002900.3(RBP3):c.467G>T (p.Trp156Leu)Inborn genetic diseases [RCV003170849]|not provided [RCV002999859]uncertain significance104734895147348951Human1name
156236542CV2155762single nucleotide variantNM_002900.3(RBP3):c.955A>T (p.Ile319Phe)not provided [RCV003007943]uncertain significance104734943947349439Humanname
156342012CV2174977single nucleotide variantNM_002900.3(RBP3):c.500T>C (p.Leu167Pro)not provided [RCV003047789]uncertain significance104734898447348984Humanname
156086578CV2289971single nucleotide variantNM_002900.3(RBP3):c.385A>T (p.Asn129Tyr)Inborn genetic diseases [RCV002869575]uncertain significance104734886947348869Human1name
156121304CV2354244single nucleotide variantNM_002900.3(RBP3):c.709G>T (p.Gly237Cys)Inborn genetic diseases [RCV002981249]uncertain significance104734919347349193Human1name
156010691CV2362155single nucleotide variantNM_002900.3(RBP3):c.892G>C (p.Gly298Arg)Inborn genetic diseases [RCV002997790]uncertain significance104734937647349376Human1name
243054003CV2416472single nucleotide variantNM_002900.3(RBP3):c.680T>C (p.Val227Ala)not provided [RCV003149533]uncertain significance104734916447349164Humanname
401763774CV2689587single nucleotide variantNM_002900.3(RBP3):c.754G>A (p.Ala252Thr)Inborn genetic diseases [RCV003281635]uncertain significance104734923847349238Human1name
401779833CV2714975single nucleotide variantNM_002900.3(RBP3):c.357G>T (p.Arg119Ser)Inborn genetic diseases [RCV003287705]uncertain significance104734884147348841Human1name
405218056CV2972326single nucleotide variantNM_002900.3(RBP3):c.3426G>A (p.Leu1142=)not provided [RCV003680216]likely benign104735713947357139Humanname
405120965CV3027137single nucleotide variantNM_002900.3(RBP3):c.3531A>G (p.Pro1177=)not provided [RCV003700689]likely benign104735724447357244Humanname
11608356CV310341single nucleotide variantNM_002900.3(RBP3):c.787G>T (p.Ala263Ser)Retinal dystrophy [RCV003888713]|Retinitis pigmentosa [RCV000353912]|not provided [RCV001230263]uncertain significance104734927147349271Human4name
11608713CV315478single nucleotide variantNM_002900.3(RBP3):c.3156C>T (p.Asp1052=)Retinitis pigmentosa [RCV000358605]|not provided [RCV001454452]likely benign|uncertain significance104735342647353426Human2name
11604107CV315479single nucleotide variantNM_002900.3(RBP3):c.3381G>A (p.Gln1127=)Retinitis pigmentosa [RCV000306182]|not provided [RCV000974253]benign|uncertain significance104735551147355511Human2name
405187043CV3156456single nucleotide variantNM_002900.3(RBP3):c.3186G>A (p.Leu1062=)not provided [RCV003859334]likely benign104735345647353456Humanname
405198281CV3168278single nucleotide variantNM_002900.3(RBP3):c.3573T>C (p.Thr1191=)not provided [RCV003860410]likely benign104735728647357286Humanname
405262969CV3188458single nucleotide variantNM_002900.3(RBP3):c.3675G>A (p.Arg1225=)Retinal dystrophy [RCV003889522]uncertain significance104735738847357388Human2name
405262973CV3188461single nucleotide variantNM_002900.3(RBP3):c.3087C>T (p.Ile1029=)Retinal dystrophy [RCV003889525]likely pathogenic104735335747353357Human2name
405263040CV3188482single nucleotide variantNM_002900.3(RBP3):c.490G>A (p.Ala164Thr)Retinal dystrophy [RCV003889546]uncertain significance104734897447348974Human2name
405263041CV3188483single nucleotide variantNM_002900.3(RBP3):c.359G>T (p.Gly120Val)Retinal dystrophy [RCV003889547]uncertain significance104734884347348843Human2name
405263193CV3188484single nucleotide variantNM_002900.3(RBP3):c.307C>T (p.Pro103Ser)Retinal dystrophy [RCV003889548]uncertain significance104734879147348791Human2name
405681971CV3319245single nucleotide variantNM_002900.3(RBP3):c.430C>G (p.Leu144Val)Inborn genetic diseases [RCV004443513]likely benign104734891447348914Human1name
596939674CV3407942single nucleotide variantNM_002900.3(RBP3):c.759C>G (p.Ile253Met)Retinal dystrophy [RCV004814402]uncertain significance104734924347349243Human2name
596942129CV3408407single nucleotide variantNM_002900.3(RBP3):c.633G>A (p.Trp211Ter)Retinal dystrophy [RCV004816078]pathogenic104734911747349117Human2name
408384835CV3503511single nucleotide variantNM_002900.3(RBP3):c.716C>T (p.Ala239Val)RBP3-related disorder [RCV004732092]uncertain significance104734920047349200Humanname , trait , alternate_id
597708832CV3586228single nucleotide variantNM_002900.3(RBP3):c.568G>C (p.Gly190Arg)Inborn genetic diseases [RCV004957672]uncertain significance104734905247349052Human1name
597708824CV3586229single nucleotide variantNM_002900.3(RBP3):c.605G>A (p.Arg202His)Inborn genetic diseases [RCV004957673]uncertain significance104734908947349089Human1name
597887097CV3741893single nucleotide variantNM_002900.3(RBP3):c.3021C>T (p.Ala1007=)not provided [RCV005070613]likely benign104735150547351505Humanname
597938852CV3788367single nucleotide variantNM_002900.3(RBP3):c.3729G>T (p.Leu1243=)not provided [RCV005133042]likely benign104735744247357442Humanname
597908742CV3806382single nucleotide variantNM_002900.3(RBP3):c.3708G>A (p.Arg1236=)not provided [RCV005153949]likely benign104735742147357421Humanname
597911933CV3834196single nucleotide variantNM_002900.3(RBP3):c.3273C>T (p.Ser1091=)not provided [RCV005182958]likely benign104735540347355403Humanname
598254927CV3898934single nucleotide variantNM_002900.3(RBP3):c.928G>C (p.Glu310Gln)Inborn genetic diseases [RCV005259806]uncertain significance104734941247349412Human1name
598254941CV3898937single nucleotide variantNM_002900.3(RBP3):c.782G>T (p.Gly261Val)Inborn genetic diseases [RCV005259809]uncertain significance104734926647349266Human1name
12906456CV415223single nucleotide variantNM_002900.3(RBP3):c.727G>A (p.Ala243Thr)Inborn genetic diseases [RCV004023249]|not provided [RCV000489244]uncertain significance104734921147349211Human1name
13211800CV425875single nucleotide variantNM_002900.3(RBP3):c.863C>A (p.Pro288His)not provided [RCV000497931]likely pathogenic|conflicting interpretations of pathogenicity104734934747349347Humanname
13484229CV444604single nucleotide variantNM_002900.3(RBP3):c.472A>T (p.Asn158Tyr)Inborn genetic diseases [RCV002528263]|not provided [RCV000522277]uncertain significance104734895647348956Human1name
13518348CV491373single nucleotide variantNM_002900.3(RBP3):c.418G>A (p.Gly140Ser)not provided [RCV000597297]conflicting interpretations of pathogenicity|uncertain significance104734890247348902Humanname
13837298CV588587single nucleotide variantNM_002900.3(RBP3):c.299C>T (p.Pro100Leu)not provided [RCV000733678]conflicting interpretations of pathogenicity|uncertain significance104734878347348783Humanname
15182843CV723956single nucleotide variantNM_002900.3(RBP3):c.3546C>T (p.His1182=)Retinitis pigmentosa [RCV001103602]|not provided [RCV000886089]benign104735725947357259Human2name
15119330CV752106single nucleotide variantNM_002900.3(RBP3):c.490G>T (p.Ala164Ser)RBP3-related disorder [RCV003933074]|not provided [RCV000918127]benign|likely benign104734897447348974Human1name , alternate_id
38464616CV801420single nucleotide variantNM_002900.3(RBP3):c.467G>C (p.Trp156Ser)Retinitis pigmentosa [RCV001199531]pathogenic104734895147348951Human2name
26890471CV836875single nucleotide variantNM_002900.3(RBP3):c.336A>C (p.Glu112Asp)not provided [RCV001059360]uncertain significance104734882047348820Humanname
26915976CV836876single nucleotide variantNM_002900.3(RBP3):c.416C>T (p.Pro139Leu)Inborn genetic diseases [RCV002551453]|not provided [RCV001039667]uncertain significance104734890047348900Human1name
26893443CV836877single nucleotide variantNM_002900.3(RBP3):c.604C>T (p.Arg202Cys)not provided [RCV001062718]uncertain significance104734908847349088Humanname
26916560CV836878single nucleotide variantNM_002900.3(RBP3):c.632G>A (p.Trp211Ter)Retinal dystrophy [RCV003890174]|not provided [RCV001040624]pathogenic|uncertain significance104734911647349116Human2name
26902855CV836879single nucleotide variantNM_002900.3(RBP3):c.802A>T (p.Lys268Ter)not provided [RCV001069517]pathogenic104734928647349286Humanname
26896423CV857383deletionNM_002900.3(RBP3):c.1408del (p.Asp470fs)Retinitis pigmentosa 66 [RCV001078178]likely pathogenic104734989147349891Human1name
28906793CV865885single nucleotide variantNM_002900.3(RBP3):c.590A>G (p.Asp197Gly)Retinitis pigmentosa [RCV001106851]uncertain significance104734907447349074Human2name
28904779CV865886single nucleotide variantNM_002900.3(RBP3):c.934G>A (p.Ala312Thr)Retinitis pigmentosa [RCV001105736]|not provided [RCV001856422]uncertain significance104734941847349418Human2name
28904771CV865887single nucleotide variantNM_002900.3(RBP3):c.967C>T (p.Arg323Cys)Inborn genetic diseases [RCV004960455]|Retinitis pigmentosa [RCV001105734]|not provided [RCV001856421]uncertain significance104734945147349451Human3name
28904766CV865888single nucleotide variantNM_002900.3(RBP3):c.971G>T (p.Ser324Ile)Retinitis pigmentosa [RCV001105733]uncertain significance104734945547349455Human2name
28904360CV865899single nucleotide variantNM_002900.3(RBP3):c.3363A>G (p.Glu1121=)Retinitis pigmentosa [RCV001105542]|not provided [RCV002556077]likely benign|uncertain significance104735549347355493Human2name
38483507CV935043single nucleotide variantNM_002900.3(RBP3):c.445G>T (p.Glu149Ter)Retinal dystrophy [RCV003890354]|not provided [RCV001207673]pathogenic104734892947348929Human2name
38468098CV935044single nucleotide variantNM_002900.3(RBP3):c.749G>A (p.Arg250His)Retinitis pigmentosa 66 [RCV001535739]|not provided [RCV001202141]uncertain significance|not provided104734923347349233Human1name
38464682CV935045single nucleotide variantNM_002900.3(RBP3):c.760G>T (p.Val254Leu)not provided [RCV001212526]uncertain significance104734924447349244Humanname
38470944CV935046single nucleotide variantNM_002900.3(RBP3):c.773G>A (p.Arg258Gln)Inborn genetic diseases [RCV004033901]|not provided [RCV001213674]uncertain significance104734925747349257Human1name
38478022CV935047single nucleotide variantNM_002900.3(RBP3):c.938T>C (p.Leu313Pro)not provided [RCV001205357]uncertain significance104734942247349422Humanname
38473760CV946902single nucleotide variantNM_002900.3(RBP3):c.505C>G (p.Leu169Val)not provided [RCV001231924]uncertain significance104734898947348989Humanname
38489094CV946903single nucleotide variantNM_002900.3(RBP3):c.664G>A (p.Gly222Ser)not provided [RCV001238272]uncertain significance104734914847349148Humanname
38467616CV946904single nucleotide variantNM_002900.3(RBP3):c.779G>A (p.Gly260Glu)not provided [RCV001230460]uncertain significance104734926347349263Humanname
38488548CV946905single nucleotide variantNM_002900.3(RBP3):c.860G>A (p.Gly287Glu)not provided [RCV001237979]uncertain significance104734934447349344Humanname
38495031CV946906single nucleotide variantNM_002900.3(RBP3):c.865C>T (p.Leu289Phe)Inborn genetic diseases [RCV004960583]|not provided [RCV001225460]uncertain significance104734934947349349Human1name
38463949CV946907single nucleotide variantNM_002900.3(RBP3):c.910T>C (p.Cys304Arg)not provided [RCV001229917]uncertain significance104734939447349394Humanname
38495173CV956060single nucleotide variantNM_002900.3(RBP3):c.625G>A (p.Glu209Lys)Inborn genetic diseases [RCV002568544]|not provided [RCV001241775]uncertain significance104734910947349109Human1name
38499722CV956061single nucleotide variantNM_002900.3(RBP3):c.685G>T (p.Val229Phe)not provided [RCV001245000]uncertain significance104734916947349169Humanname
38491548CV956062single nucleotide variantNM_002900.3(RBP3):c.778G>C (p.Gly260Arg)Inborn genetic diseases [RCV004034619]|not provided [RCV001239544]uncertain significance104734926247349262Human1name
38497306CV956063single nucleotide variantNM_002900.3(RBP3):c.866T>C (p.Leu289Pro)not provided [RCV001243089]uncertain significance104734935047349350Humanname
126752676CV993833single nucleotide variantNM_002900.3(RBP3):c.299C>A (p.Pro100Gln)not provided [RCV001307267]uncertain significance104734878347348783Humanname
126727355CV993834single nucleotide variantNM_002900.3(RBP3):c.332A>G (p.Glu111Gly)not provided [RCV001303135]uncertain significance104734881647348816Humanname
126742003CV993835single nucleotide variantNM_002900.3(RBP3):c.412G>A (p.Val138Ile)not provided [RCV001295986]uncertain significance104734889647348896Humanname
126733869CV993837single nucleotide variantNM_002900.3(RBP3):c.682G>A (p.Val228Met)not provided [RCV001304345]uncertain significance104734916647349166Humanname
126742693CV993838single nucleotide variantNM_002900.3(RBP3):c.815G>T (p.Gly272Val)not provided [RCV001305589]uncertain significance104734929947349299Humanname
126743500CV993839single nucleotide variantNM_002900.3(RBP3):c.823G>C (p.Asp275His)not provided [RCV001305710]uncertain significance104734930747349307Humanname
126732680CV1009015single nucleotide variantNM_002900.3(RBP3):c.1101T>A (p.Asp367Glu)not provided [RCV001313262]uncertain significance104734958547349585Humanname
126758159CV1009016single nucleotide variantNM_002900.3(RBP3):c.1186C>G (p.Pro396Ala)not provided [RCV001317698]uncertain significance104734967047349670Humanname
126735519CV1009017single nucleotide variantNM_002900.3(RBP3):c.1286T>C (p.Val429Ala)not provided [RCV001313729]uncertain significance104734977047349770Humanname
126752256CV1009018single nucleotide variantNM_002900.3(RBP3):c.1414G>A (p.Glu472Lys)not provided [RCV001316277]uncertain significance104734989847349898Humanname
126731892CV1009019single nucleotide variantNM_002900.3(RBP3):c.1532A>T (p.Asp511Val)Inborn genetic diseases [RCV002543618]|Retinitis pigmentosa 66 [RCV001535721]|not provided [RCV001313119]uncertain significance|not provided104735001647350016Human2name
126770950CV1009020single nucleotide variantNM_002900.3(RBP3):c.1580C>T (p.Pro527Leu)not provided [RCV001322872]uncertain significance104735006447350064Humanname
126766323CV1009021single nucleotide variantNM_002900.3(RBP3):c.1708G>A (p.Ala570Thr)not provided [RCV001320399]uncertain significance104735019247350192Humanname
126734419CV1009022single nucleotide variantNM_002900.3(RBP3):c.1730G>A (p.Arg577His)Inborn genetic diseases [RCV004960744]|not provided [RCV001313567]uncertain significance104735021447350214Human1name
126764646CV1009023single nucleotide variantNM_002900.3(RBP3):c.1764C>A (p.Ser588Arg)Inborn genetic diseases [RCV003294280]|not provided [RCV001319728]uncertain significance104735024847350248Human1name
126754457CV1009024single nucleotide variantNM_002900.3(RBP3):c.2221G>C (p.Gly741Arg)not provided [RCV001327513]uncertain significance104735070547350705Humanname
126752374CV1009025single nucleotide variantNM_002900.3(RBP3):c.2278G>A (p.Val760Met)not provided [RCV001316302]uncertain significance104735076247350762Humanname
126749466CV1009026single nucleotide variantNM_002900.3(RBP3):c.2282G>C (p.Gly761Ala)not provided [RCV001315724]uncertain significance104735076647350766Humanname
126742738CV1009027single nucleotide variantNM_002900.3(RBP3):c.2324C>T (p.Thr775Met)Retinal dystrophy [RCV003888016]|not provided [RCV001314703]uncertain significance104735080847350808Human2name
126751355CV1009028single nucleotide variantNM_002900.3(RBP3):c.2491G>A (p.Gly831Ser)Retinal dystrophy [RCV004815382]|not provided [RCV001326904]uncertain significance104735097547350975Human2name
126769853CV1009029single nucleotide variantNM_002900.3(RBP3):c.2498G>A (p.Arg833His)Inborn genetic diseases [RCV002546091]|Retinal dystrophy [RCV004815373]|not provided [RCV001322215]uncertain significance104735098247350982Human3name
126749329CV1009030single nucleotide variantNM_002900.3(RBP3):c.2576T>C (p.Met859Thr)not provided [RCV001315699]uncertain significance104735106047351060Humanname
126737119CV1009031single nucleotide variantNM_002900.3(RBP3):c.2620G>A (p.Gly874Arg)not provided [RCV001324755]uncertain significance104735110447351104Humanname
126755156CV1009032single nucleotide variantNM_002900.3(RBP3):c.2621G>A (p.Gly874Glu)Inborn genetic diseases [RCV002546229]|not provided [RCV001327675]uncertain significance104735110547351105Human1name
126744866CV1009033single nucleotide variantNM_002900.3(RBP3):c.2624G>A (p.Gly875Asp)not provided [RCV001314991]uncertain significance104735110847351108Humanname
126769532CV1009035single nucleotide variantNM_002900.3(RBP3):c.2699G>T (p.Ser900Ile)not provided [RCV001322014]uncertain significance104735118347351183Humanname
126754191CV1009036single nucleotide variantNM_002900.3(RBP3):c.2882T>C (p.Met961Thr)not provided [RCV001316650]uncertain significance104735136647351366Humanname
126767484CV1009037single nucleotide variantNM_002900.3(RBP3):c.2971A>T (p.Met991Leu)not provided [RCV001320869]uncertain significance104735145547351455Humanname
126725497CV1029563single nucleotide variantNM_002900.3(RBP3):c.1076T>C (p.Phe359Ser)Inborn genetic diseases [RCV004036544]|not provided [RCV001348173]uncertain significance104734956047349560Human1name
126749897CV1029564single nucleotide variantNM_002900.3(RBP3):c.1300G>C (p.Val434Leu)not provided [RCV001352137]uncertain significance104734978447349784Humanname
126747076CV1029565single nucleotide variantNM_002900.3(RBP3):c.1328G>A (p.Arg443His)Retinal dystrophy [RCV004815392]|not provided [RCV001337419]uncertain significance104734981247349812Human2name
126770495CV1029566single nucleotide variantNM_002900.3(RBP3):c.1412C>T (p.Thr471Met)not provided [RCV001344509]uncertain significance104734989647349896Humanname
126769730CV1029567single nucleotide variantNM_002900.3(RBP3):c.1559A>T (p.His520Leu)not provided [RCV001344081]uncertain significance104735004347350043Humanname
126764662CV1029568single nucleotide variantNM_002900.3(RBP3):c.2107C>T (p.His703Tyr)Inborn genetic diseases [RCV002547410]|not provided [RCV001341739]uncertain significance104735059147350591Human1name
126774079CV1029569single nucleotide variantNM_002900.3(RBP3):c.2119G>A (p.Glu707Lys)not provided [RCV001346807]uncertain significance104735060347350603Humanname
126763455CV1029570single nucleotide variantNM_002900.3(RBP3):c.2573C>A (p.Thr858Asn)not provided [RCV001341280]uncertain significance104735105747351057Humanname
126761111CV1029571single nucleotide variantNM_002900.3(RBP3):c.2590C>T (p.Arg864Trp)Inborn genetic diseases [RCV004960817]|not provided [RCV001340594]uncertain significance104735107447351074Human1name
126742131CV1029572single nucleotide variantNM_002900.3(RBP3):c.2741C>T (p.Pro914Leu)not provided [RCV001350971]uncertain significance104735122547351225Humanname
126739199CV1029573single nucleotide variantNM_002900.3(RBP3):c.2909G>A (p.Ser970Asn)not provided [RCV001350573]uncertain significance104735139347351393Humanname
126913167CV1037973single nucleotide variantNM_002900.3(RBP3):c.2219C>T (p.Pro740Leu)not provided [RCV001357119]uncertain significance104735070347350703Humanname
126921526CV1046554single nucleotide variantNM_002900.3(RBP3):c.1031T>C (p.Val344Ala)not provided [RCV001363596]uncertain significance104734951547349515Humanname
126911954CV1046555single nucleotide variantNM_002900.3(RBP3):c.1036C>G (p.Arg346Gly)not provided [RCV001369481]uncertain significance104734952047349520Humanname
126918953CV1046556single nucleotide variantNM_002900.3(RBP3):c.1042C>T (p.Pro348Ser)Inborn genetic diseases [RCV004952851]|Retinitis pigmentosa [RCV005394998]|not provided [RCV001372958]uncertain significance104734952647349526Human3name
126908547CV1046557single nucleotide variantNM_002900.3(RBP3):c.1064C>A (p.Ala355Asp)not provided [RCV001367980]uncertain significance104734954847349548Humanname
126918995CV1046558single nucleotide variantNM_002900.3(RBP3):c.1171G>A (p.Gly391Arg)Inborn genetic diseases [RCV003298573]|not provided [RCV001362043]likely benign|uncertain significance104734965547349655Human1name
126916254CV1046559single nucleotide variantNM_002900.3(RBP3):c.2067C>A (p.Asp689Glu)Inborn genetic diseases [RCV002550009]|not provided [RCV001360471]uncertain significance104735055147350551Human1name
126918273CV1046560single nucleotide variantNM_002900.3(RBP3):c.2210A>G (p.Glu737Gly)not provided [RCV001372561]uncertain significance104735069447350694Humanname
126915295CV1046561single nucleotide variantNM_002900.3(RBP3):c.2462C>T (p.Thr821Met)not provided [RCV001359902]uncertain significance104735094647350946Humanname
127263391CV1061899single nucleotide variantNM_002900.3(RBP3):c.2074G>T (p.Glu692Ter)not provided [RCV001380956]pathogenic104735055847350558Humanname
127263987CV1061901single nucleotide variantNM_002900.3(RBP3):c.2824C>T (p.Gln942Ter)not provided [RCV001381104]pathogenic104735130847351308Humanname
127245263CV1061902deletionNM_002900.3(RBP3):c.3320del (p.Leu1107fs)not provided [RCV001384330]pathogenic104735545047355450Humanname
127281540CV1098735single nucleotide variantNM_002900.3(RBP3):c.2446G>T (p.Ala816Ser)Retinal dystrophy [RCV003888155]|not provided [RCV001447222]likely benign104735093047350930Human2name
151821603CV1338597single nucleotide variantNM_002900.3(RBP3):c.1138T>G (p.Ser380Ala)Retinal dystrophy [RCV003888387]|not provided [RCV001900937]uncertain significance104734962247349622Human2name
151759066CV1340629single nucleotide variantNM_002900.3(RBP3):c.1405C>T (p.Gln469Ter)not provided [RCV001913767]pathogenic104734988947349889Humanname
151867020CV1342394single nucleotide variantNM_002900.3(RBP3):c.1257G>C (p.Glu419Asp)not provided [RCV001997859]uncertain significance104734974147349741Humanname
151815855CV1344331single nucleotide variantNM_002900.3(RBP3):c.1549A>G (p.Thr517Ala)not provided [RCV001919073]uncertain significance104735003347350033Humanname
151849132CV1346257single nucleotide variantNM_002900.3(RBP3):c.2140C>T (p.Pro714Ser)not provided [RCV001978690]uncertain significance104735062447350624Humanname
151891286CV1346987single nucleotide variantNM_002900.3(RBP3):c.2790A>G (p.Ile930Met)not provided [RCV002039071]uncertain significance104735127447351274Humanname
151856764CV1347826single nucleotide variantNM_002900.3(RBP3):c.1936C>A (p.Leu646Met)not provided [RCV001979620]uncertain significance104735042047350420Humanname
151823901CV1350745single nucleotide variantNM_002900.3(RBP3):c.1082C>T (p.Thr361Met)not provided [RCV001919841]uncertain significance104734956647349566Humanname
151852547CV1357228single nucleotide variantNM_002900.3(RBP3):c.2603T>C (p.Ile868Thr)not provided [RCV001904289]uncertain significance104735108747351087Humanname
151772658CV1357305single nucleotide variantNM_002900.3(RBP3):c.1025C>T (p.Thr342Met)not provided [RCV001864227]uncertain significance104734950947349509Humanname
151782413CV1360549single nucleotide variantNM_002900.3(RBP3):c.2828C>T (p.Thr943Met)Inborn genetic diseases [RCV004953189]|not provided [RCV001865089]uncertain significance104735131247351312Human1name
151842970CV1363219single nucleotide variantNM_002900.3(RBP3):c.1639A>G (p.Thr547Ala)Inborn genetic diseases [RCV004956197]|not provided [RCV002032041]uncertain significance104735012347350123Human1name
151771075CV1366316single nucleotide variantNM_002900.3(RBP3):c.1582G>A (p.Gly528Ser)not provided [RCV001929524]uncertain significance104735006647350066Humanname
151771790CV1366441single nucleotide variantNM_002900.3(RBP3):c.2980G>A (p.Gly994Arg)Inborn genetic diseases [RCV002560532]|Retinal dystrophy [RCV003888922]|not provided [RCV001929590]likely benign|uncertain significance104735146447351464Human3name
151879573CV1370322single nucleotide variantNM_002900.3(RBP3):c.1979C>G (p.Thr660Ser)not provided [RCV001961461]uncertain significance104735046347350463Humanname
151853965CV1370801single nucleotide variantNM_002900.3(RBP3):c.1670A>T (p.Gln557Leu)not provided [RCV001904458]uncertain significance104735015447350154Humanname
151854049CV1370818single nucleotide variantNM_002900.3(RBP3):c.2152C>A (p.Pro718Thr)not provided [RCV001904466]uncertain significance104735063647350636Humanname
151837604CV1371704single nucleotide variantNM_002900.3(RBP3):c.2047G>A (p.Ala683Thr)not provided [RCV001921154]uncertain significance104735053147350531Humanname
151876273CV1372680single nucleotide variantNM_002900.3(RBP3):c.2764G>A (p.Glu922Lys)not provided [RCV002019576]uncertain significance104735124847351248Humanname
151831639CV1373432single nucleotide variantNM_002900.3(RBP3):c.2117G>A (p.Gly706Asp)Inborn genetic diseases [RCV003382663]|not provided [RCV001901867]uncertain significance104735060147350601Human1name
151746725CV1375014single nucleotide variantNM_002900.3(RBP3):c.2690T>C (p.Met897Thr)Inborn genetic diseases [RCV002556413]|not provided [RCV001947678]uncertain significance104735117447351174Human1name
151709187CV1375777single nucleotide variantNM_002900.3(RBP3):c.2909G>C (p.Ser970Thr)Inborn genetic diseases [RCV002571272]|not provided [RCV001963939]uncertain significance104735139347351393Human1name
151875428CV1376149single nucleotide variantNM_002900.3(RBP3):c.2973G>C (p.Met991Ile)not provided [RCV002019480]uncertain significance104735145747351457Humanname
151797953CV1376562single nucleotide variantNM_002900.3(RBP3):c.2252T>C (p.Met751Thr)not provided [RCV001932036]uncertain significance104735073647350736Humanname
151852767CV1379025single nucleotide variantNM_002900.3(RBP3):c.1853T>C (p.Leu618Pro)not provided [RCV001882963]uncertain significance104735033747350337Humanname
151839490CV1382907single nucleotide variantNM_002900.3(RBP3):c.1118A>G (p.Asn373Ser)not provided [RCV002031647]uncertain significance104734960247349602Humanname
151751669CV1385466single nucleotide variantNM_002900.3(RBP3):c.2093G>A (p.Arg698His)Inborn genetic diseases [RCV004656796]|not provided [RCV001969248]uncertain significance104735057747350577Human1name
151819411CV1385854single nucleotide variantNM_002900.3(RBP3):c.2780C>G (p.Ala927Gly)not provided [RCV002013224]uncertain significance104735126447351264Humanname
151740364CV1386492single nucleotide variantNM_002900.3(RBP3):c.2977T>C (p.Ser993Pro)not provided [RCV001893210]uncertain significance104735146147351461Humanname
151818911CV1390644single nucleotide variantNM_002900.3(RBP3):c.1831G>C (p.Val611Leu)not provided [RCV001954562]uncertain significance104735031547350315Humanname
151754544CV1391359single nucleotide variantNM_002900.3(RBP3):c.2270T>C (p.Val757Ala)not provided [RCV001969538]uncertain significance104735075447350754Humanname
151779044CV1392488single nucleotide variantNM_002900.3(RBP3):c.2140C>G (p.Pro714Ala)not provided [RCV001897067]uncertain significance104735062447350624Humanname
151791149CV1393213single nucleotide variantNM_002900.3(RBP3):c.1640C>T (p.Thr547Met)not provided [RCV001931430]uncertain significance104735012447350124Humanname
151891765CV1394503single nucleotide variantNM_002900.3(RBP3):c.1247C>T (p.Pro416Leu)not provided [RCV002039233]uncertain significance104734973147349731Humanname
151826014CV1396111single nucleotide variantNM_002900.3(RBP3):c.2884G>A (p.Ala962Thr)Retinal dystrophy [RCV003888354]|not provided [RCV001934593]uncertain significance104735136847351368Human2name
151733320CV1397851single nucleotide variantNM_002900.3(RBP3):c.1294G>A (p.Val432Met)not provided [RCV002005004]uncertain significance104734977847349778Humanname
151743917CV1398218single nucleotide variantNM_002900.3(RBP3):c.2033A>G (p.Asp678Gly)not provided [RCV002042517]uncertain significance104735051747350517Humanname
151858456CV1398302single nucleotide variantNM_002900.3(RBP3):c.1646C>T (p.Ala549Val)Inborn genetic diseases [RCV002642137]|not provided [RCV002017464]uncertain significance104735013047350130Human1name
151711906CV1400086single nucleotide variantNM_002900.3(RBP3):c.1163G>A (p.Arg388Gln)Inborn genetic diseases [RCV002564334]|Retinal dystrophy [RCV003888938]|not provided [RCV002002151]uncertain significance104734964747349647Human3name
151888608CV1402178single nucleotide variantNM_002900.3(RBP3):c.1039G>T (p.Val347Leu)not provided [RCV001942621]uncertain significance104734952347349523Humanname
151771152CV1404369single nucleotide variantNM_002900.3(RBP3):c.2689A>G (p.Met897Val)not provided [RCV002045255]uncertain significance104735117347351173Humanname
151884047CV1404937single nucleotide variantNM_002900.3(RBP3):c.1042C>G (p.Pro348Ala)not provided [RCV001962252]uncertain significance104734952647349526Humanname
151874720CV1408541single nucleotide variantNM_002900.3(RBP3):c.2833G>A (p.Gly945Arg)not provided [RCV001906924]uncertain significance104735131747351317Humanname
151880071CV1411230single nucleotide variantNM_002900.3(RBP3):c.2947G>A (p.Glu983Lys)not provided [RCV002020023]uncertain significance104735143147351431Humanname
151831205CV1414284single nucleotide variantNM_002900.3(RBP3):c.1354G>A (p.Val452Ile)not provided [RCV001870544]uncertain significance104734983847349838Humanname
151810089CV1417302single nucleotide variantNM_002900.3(RBP3):c.2274G>C (p.Lys758Asn)not provided [RCV002028885]uncertain significance104735075847350758Humanname
151755616CV1417793single nucleotide variantNM_002900.3(RBP3):c.1549A>T (p.Thr517Ser)not provided [RCV001894767]uncertain significance104735003347350033Humanname
151878772CV1419072single nucleotide variantNM_002900.3(RBP3):c.2528T>C (p.Leu843Pro)not provided [RCV001982239]uncertain significance104735101247351012Humanname
151732169CV1419446single nucleotide variantNM_002900.3(RBP3):c.2746A>G (p.Ile916Val)not provided [RCV001946167]uncertain significance104735123047351230Humanname
151820425CV1422618single nucleotide variantNM_002900.3(RBP3):c.1934A>C (p.His645Pro)not provided [RCV001900828]uncertain significance104735041847350418Humanname
151841629CV1423790single nucleotide variantNM_002900.3(RBP3):c.1747G>T (p.Asp583Tyr)not provided [RCV001977765]uncertain significance104735023147350231Humanname
151831495CV1426652single nucleotide variantNM_002900.3(RBP3):c.2020C>T (p.Arg674Cys)Inborn genetic diseases [RCV002579521]|Retinal dystrophy [RCV003888967]|not provided [RCV001976696]uncertain significance104735050447350504Human3name
151783281CV1435078single nucleotide variantNM_002900.3(RBP3):c.1265G>A (p.Arg422Gln)Retinal dystrophy [RCV003888905]|not provided [RCV001916075]uncertain significance104734974947349749Human2name
151872062CV1435118single nucleotide variantNM_002900.3(RBP3):c.1205A>G (p.Asp402Gly)not provided [RCV001939940]uncertain significance104734968947349689Humanname
151777227CV1436622single nucleotide variantNM_002900.3(RBP3):c.1769C>T (p.Ala590Val)not provided [RCV001971744]uncertain significance104735025347350253Humanname
151738539CV1437430single nucleotide variantNM_002900.3(RBP3):c.2092C>T (p.Arg698Cys)not provided [RCV001870779]uncertain significance104735057647350576Humanname
151800704CV1439050single nucleotide variantNM_002900.3(RBP3):c.1829G>C (p.Gly610Ala)Inborn genetic diseases [RCV004042392]|Retinal dystrophy [RCV004816868]|not provided [RCV001990924]uncertain significance104735031347350313Human3name
151833464CV1439366single nucleotide variantNM_002900.3(RBP3):c.1808G>C (p.Gly603Ala)not provided [RCV001976877]uncertain significance104735029247350292Humanname
151774590CV1440665single nucleotide variantNM_002900.3(RBP3):c.1255G>A (p.Glu419Lys)Inborn genetic diseases [RCV002554348]|not provided [RCV001896673]uncertain significance104734973947349739Human1name
151715766CV1445560single nucleotide variantNM_002900.3(RBP3):c.2597C>A (p.Thr866Lys)not provided [RCV002002897]uncertain significance104735108147351081Humanname
151764266CV1447633single nucleotide variantNM_002900.3(RBP3):c.2101G>A (p.Val701Met)not provided [RCV001895693]uncertain significance104735058547350585Humanname
151760395CV1448517single nucleotide variantNM_002900.3(RBP3):c.2485G>T (p.Val829Phe)not provided [RCV001949069]uncertain significance104735096947350969Humanname
151816947CV1456829single nucleotide variantNM_002900.3(RBP3):c.2180C>T (p.Thr727Ile)Retinal dystrophy [RCV003888367]|not provided [RCV001900506]uncertain significance104735066447350664Human2name
151851014CV1460481single nucleotide variantNM_002900.3(RBP3):c.1427T>A (p.Met476Lys)not provided [RCV001904096]uncertain significance104734991147349911Humanname
151775660CV1463661single nucleotide variantNM_002900.3(RBP3):c.2788A>G (p.Ile930Val)Inborn genetic diseases [RCV004955772]|not provided [RCV001896768]uncertain significance104735127247351272Human1name
151735284CV1465771single nucleotide variantNM_002900.3(RBP3):c.1036C>A (p.Arg346Ser)not provided [RCV002041638]uncertain significance104734952047349520Humanname
151777769CV1466591single nucleotide variantNM_002900.3(RBP3):c.1307C>T (p.Pro436Leu)not provided [RCV001896950]uncertain significance104734979147349791Humanname
151827263CV1467418single nucleotide variantNM_002900.3(RBP3):c.2576T>G (p.Met859Arg)not provided [RCV001901449]uncertain significance104735106047351060Humanname
151718198CV1469277single nucleotide variantNM_002900.3(RBP3):c.1519T>C (p.Phe507Leu)Inborn genetic diseases [RCV005262546]|not provided [RCV002039657]uncertain significance104735000347350003Human1name
151883481CV1476590single nucleotide variantNM_002900.3(RBP3):c.1828G>A (p.Gly610Arg)not provided [RCV001886949]uncertain significance104735031247350312Humanname
151787502CV1479101single nucleotide variantNM_002900.3(RBP3):c.2189T>C (p.Ile730Thr)not provided [RCV002046771]uncertain significance104735067347350673Humanname
151860249CV1482928single nucleotide variantNM_002900.3(RBP3):c.1838C>G (p.Pro613Arg)not provided [RCV001883829]uncertain significance104735032247350322Humanname
151876061CV1483336single nucleotide variantNM_002900.3(RBP3):c.1758A>C (p.Glu586Asp)not provided [RCV001907077]uncertain significance104735024247350242Humanname
151754947CV1483827single nucleotide variantNM_002900.3(RBP3):c.2974C>A (p.Leu992Ile)not provided [RCV001927888]uncertain significance104735145847351458Humanname
151806141CV1486949single nucleotide variantNM_002900.3(RBP3):c.2317G>A (p.Val773Met)not provided [RCV001918160]uncertain significance104735080147350801Humanname
151739036CV1490340single nucleotide variantNM_002900.3(RBP3):c.1694T>C (p.Val565Ala)not provided [RCV001985058]uncertain significance104735017847350178Humanname
151720263CV1491491single nucleotide variantNM_002900.3(RBP3):c.1424T>C (p.Ile475Thr)not provided [RCV002003559]uncertain significance104734990847349908Humanname
151892569CV1493665single nucleotide variantNM_002900.3(RBP3):c.2789T>A (p.Ile930Lys)not provided [RCV001944249]uncertain significance104735127347351273Humanname
151887121CV1496094single nucleotide variantNM_002900.3(RBP3):c.1619T>C (p.Leu540Pro)not provided [RCV001887701]uncertain significance104735010347350103Humanname
151864007CV1498658single nucleotide variantNM_002900.3(RBP3):c.2488G>A (p.Ala830Thr)Retinal dystrophy [RCV003888974]|not provided [RCV001980496]uncertain significance104735097247350972Human2name
151710741CV1500709single nucleotide variantNM_002900.3(RBP3):c.2780C>T (p.Ala927Val)not provided [RCV002001909]uncertain significance104735126447351264Humanname
151744786CV1501538single nucleotide variantNM_002900.3(RBP3):c.2113C>T (p.Pro705Ser)not provided [RCV002042612]uncertain significance104735059747350597Humanname
151773167CV1502238single nucleotide variantNM_002900.3(RBP3):c.1807G>A (p.Gly603Ser)Retinal dystrophy [RCV003888357]|not provided [RCV001929728]uncertain significance104735029147350291Human2name
151769952CV1504122single nucleotide variantNM_002900.3(RBP3):c.2788A>T (p.Ile930Leu)not provided [RCV002045149]uncertain significance104735127247351272Humanname
151770221CV1504224single nucleotide variantNM_002900.3(RBP3):c.2413C>T (p.Pro805Ser)not provided [RCV002045175]uncertain significance104735089747350897Humanname
151786676CV1504536single nucleotide variantNM_002900.3(RBP3):c.2759T>A (p.Met920Lys)not provided [RCV001951621]uncertain significance104735124347351243Humanname
151879826CV1506364single nucleotide variantNM_002900.3(RBP3):c.2552C>T (p.Ala851Val)Inborn genetic diseases [RCV004656703]|not provided [RCV001886309]uncertain significance104735103647351036Human1name
151734992CV1508769single nucleotide variantNM_002900.3(RBP3):c.1570A>G (p.Met524Val)not provided [RCV002021701]uncertain significance104735005447350054Humanname
151718375CV1509593single nucleotide variantNM_002900.3(RBP3):c.1777G>T (p.Val593Leu)not provided [RCV001890692]uncertain significance104735026147350261Humanname
151873594CV1511296single nucleotide variantNM_002900.3(RBP3):c.2416C>G (p.Arg806Gly)not provided [RCV001960763]uncertain significance104735090047350900Humanname
151848777CV1511786single nucleotide variantNM_002900.3(RBP3):c.2195C>T (p.Ala732Val)not provided [RCV001978648]uncertain significance104735067947350679Humanname
151853478CV1514647single nucleotide variantNM_002900.3(RBP3):c.2923G>C (p.Val975Leu)not provided [RCV001979246]uncertain significance104735140747351407Humanname
151728986CV1515788single nucleotide variantNM_002900.3(RBP3):c.1955C>T (p.Ala652Val)not provided [RCV001983996]uncertain significance104735043947350439Humanname
151869663CV1516805single nucleotide variantNM_002900.3(RBP3):c.2816C>T (p.Thr939Met)not provided [RCV001981134]uncertain significance104735130047351300Humanname
155669147CV1770892single nucleotide variantNM_002900.3(RBP3):c.1363G>C (p.Val455Leu)not provided [RCV002297236]uncertain significance104734984747349847Humanname
9693267CV177130single nucleotide variantNM_002900.3(RBP3):c.2743G>A (p.Asp915Asn)not provided [RCV000153814]uncertain significance104735122747351227Humanname
9693268CV177261single nucleotide variantNM_002900.3(RBP3):c.1840G>A (p.Asp614Asn)Retinitis pigmentosa 66 [RCV000206960]|Retinitis pigmentosa [RCV001105648]|Retinitis pigmentosa [RCV005394521]|not provided [RCV000153815]conflicting interpretations of pathogenicity|uncertain significance104735032447350324Human3name
155671629CV1776080single nucleotide variantNM_002900.3(RBP3):c.2830G>A (p.Ala944Thr)not provided [RCV002297470]uncertain significance104735131447351314Humanname
155971682CV1889551single nucleotide variantNM_002900.3(RBP3):c.2341G>A (p.Asp781Asn)Retinal dystrophy [RCV003889230]|not provided [RCV003075210]uncertain significance104735082547350825Human2name
10049422CV190403single nucleotide variantNM_002900.3(RBP3):c.2650G>A (p.Val884Met)Retinal dystrophy [RCV003888613]|Retinitis pigmentosa [RCV001106685]|Retinitis pigmentosa [RCV002500453]|not provided [RCV000891521]|not specified [RCV000173286]benign|likely benign104735113447351134Human4name
10049425CV190406single nucleotide variantNM_002900.3(RBP3):c.1514A>T (p.His505Leu)Retinitis pigmentosa 66 [RCV000206920]|Retinitis pigmentosa [RCV001107413]|Retinitis pigmentosa [RCV005396518]|not provided [RCV000173289]conflicting interpretations of pathogenicity|uncertain significance104734999847349998Human3name
10049426CV190407single nucleotide variantNM_002900.3(RBP3):c.1093G>A (p.Glu365Lys)Inborn genetic diseases [RCV005259994]|Retinal dystrophy [RCV003888615]|not provided [RCV000173290]likely benign|uncertain significance104734957747349577Human3name
10049427CV190408single nucleotide variantNM_002900.3(RBP3):c.2168C>T (p.Pro723Leu)RBP3-related disorder [RCV003927582]|Retinitis pigmentosa 66 [RCV000206940]|Retinitis pigmentosa [RCV001103698]|not provided [RCV000966383]|not specified [RCV000173291]benign|likely benign|uncertain significance104735065247350652Human3name , alternate_id
156413730CV1905409single nucleotide variantNM_002900.3(RBP3):c.2557G>A (p.Glu853Lys)Retinal dystrophy [RCV003889234]|not provided [RCV003073418]uncertain significance104735104147351041Human2name
155940512CV1913703single nucleotide variantNM_002900.3(RBP3):c.1327C>T (p.Arg443Cys)Inborn genetic diseases [RCV002615602]|not provided [RCV002627825]uncertain significance104734981147349811Human1name
156406168CV1921482single nucleotide variantNM_002900.3(RBP3):c.1268A>C (p.Gln423Pro)Inborn genetic diseases [RCV004961114]|not provided [RCV002606510]uncertain significance104734975247349752Human1name
156444797CV1948524single nucleotide variantNM_002900.3(RBP3):c.1478T>C (p.Leu493Pro)not provided [RCV003115726]likely benign104734996247349962Humanname
156444866CV1948913single nucleotide variantNM_002900.3(RBP3):c.1199C>T (p.Ala400Val)not provided [RCV003115796]uncertain significance104734968347349683Humanname
156241819CV1953031single nucleotide variantNM_002900.3(RBP3):c.2464G>A (p.Glu822Lys)not provided [RCV002576245]uncertain significance104735094847350948Humanname
156159228CV1954728single nucleotide variantNM_002900.3(RBP3):c.2353A>G (p.Asn785Asp)Inborn genetic diseases [RCV003250520]|not provided [RCV002573163]uncertain significance104735083747350837Human1name
156189933CV1961635single nucleotide variantNM_002900.3(RBP3):c.1777G>A (p.Val593Met)Retinal dystrophy [RCV003889119]|not provided [RCV002574377]uncertain significance104735026147350261Human2name
156406175CV1963505single nucleotide variantNM_002900.3(RBP3):c.2515G>A (p.Asp839Asn)not provided [RCV002585816]uncertain significance104735099947350999Humanname
156417451CV1966960single nucleotide variantNM_002900.3(RBP3):c.1733C>T (p.Thr578Met)not provided [RCV002590197]uncertain significance104735021747350217Humanname
156417653CV1967092single nucleotide variantNM_002900.3(RBP3):c.1177A>G (p.Thr393Ala)not provided [RCV002590299]uncertain significance104734966147349661Humanname
156419798CV1970665single nucleotide variantNM_002900.3(RBP3):c.1729C>G (p.Arg577Gly)not provided [RCV002613041]uncertain significance104735021347350213Humanname
155982686CV1972516single nucleotide variantNM_002900.3(RBP3):c.1889T>C (p.Leu630Pro)not provided [RCV002617673]uncertain significance104735037347350373Humanname
156054190CV1974495single nucleotide variantNM_002900.3(RBP3):c.2185C>A (p.Leu729Ile)Inborn genetic diseases [RCV004065671]|not provided [RCV002590758]uncertain significance104735066947350669Human1name
156354075CV1974891single nucleotide variantNM_002900.3(RBP3):c.2669A>G (p.Tyr890Cys)not provided [RCV002602035]uncertain significance104735115347351153Humanname
156323311CV1975224single nucleotide variantNM_002900.3(RBP3):c.1993C>T (p.Arg665Trp)not provided [RCV002630492]uncertain significance104735047747350477Humanname
156351521CV1978448single nucleotide variantNM_002900.3(RBP3):c.1071G>T (p.Met357Ile)not provided [RCV002601861]uncertain significance104734955547349555Humanname
156256123CV1981879single nucleotide variantNM_002900.3(RBP3):c.1115T>A (p.Leu372His)not provided [RCV002646057]uncertain significance104734959947349599Humanname
156342382CV1985004single nucleotide variantNM_002900.3(RBP3):c.1818G>T (p.Trp606Cys)not provided [RCV002631492]uncertain significance104735030247350302Humanname
155999473CV1987085single nucleotide variantNM_002900.3(RBP3):c.2006C>G (p.Ala669Gly)not provided [RCV002618378]uncertain significance104735049047350490Humanname
156002103CV1987879single nucleotide variantNM_002900.3(RBP3):c.1565G>A (p.Ser522Asn)not provided [RCV002618500]uncertain significance104735004947350049Humanname
156012381CV1988260single nucleotide variantNM_002900.3(RBP3):c.1637C>T (p.Ala546Val)Retinal dystrophy [RCV004817075]|not provided [RCV002618971]uncertain significance104735012147350121Human2name
156330560CV1988951single nucleotide variantNM_002900.3(RBP3):c.1220A>T (p.Asp407Val)not provided [RCV002649794]uncertain significance104734970447349704Humanname
156398359CV1990858single nucleotide variantNM_002900.3(RBP3):c.2650G>C (p.Val884Leu)not provided [RCV002605362]uncertain significance104735113447351134Humanname
156228280CV1991675single nucleotide variantNM_002900.3(RBP3):c.2911C>T (p.Arg971Cys)not provided [RCV002626698]uncertain significance104735139547351395Humanname
156259896CV2000437single nucleotide variantNM_002900.3(RBP3):c.2800C>T (p.Arg934Cys)Inborn genetic diseases [RCV004958669]|not provided [RCV002627730]uncertain significance104735128447351284Human1name
156207744CV2000742single nucleotide variantNM_002900.3(RBP3):c.1957C>T (p.Arg653Trp)Inborn genetic diseases [RCV002666729]|not provided [RCV002649930]uncertain significance104735044147350441Human1name
156368705CV2007535single nucleotide variantNM_002900.3(RBP3):c.2101G>C (p.Val701Leu)not provided [RCV002676745]uncertain significance104735058547350585Humanname
156060841CV2008252single nucleotide variantNM_002900.3(RBP3):c.1553A>C (p.Gln518Pro)not provided [RCV002705380]uncertain significance104735003747350037Humanname
156120117CV2013702single nucleotide variantNM_002900.3(RBP3):c.2705C>G (p.Thr902Ser)Inborn genetic diseases [RCV005264258]|not provided [RCV002740164]likely benign|uncertain significance104735118947351189Human1name
156228751CV2019572single nucleotide variantNM_002900.3(RBP3):c.2014G>A (p.Ala672Thr)not provided [RCV002701278]uncertain significance104735049847350498Humanname
156256390CV2025952single nucleotide variantNM_002900.3(RBP3):c.1504G>C (p.Gly502Arg)not provided [RCV002746161]uncertain significance104734998847349988Humanname
156214485CV2028589single nucleotide variantNM_002900.3(RBP3):c.1360G>A (p.Gly454Ser)not provided [RCV002711895]uncertain significance104734984447349844Humanname
156095103CV2030869single nucleotide variantNM_002900.3(RBP3):c.2776A>G (p.Ile926Val)not provided [RCV002761094]uncertain significance104735126047351260Humanname
155944956CV2032636single nucleotide variantNM_002900.3(RBP3):c.2540C>A (p.Thr847Asn)not provided [RCV002730348]uncertain significance104735102447351024Humanname
155916048CV2033537single nucleotide variantNM_002900.3(RBP3):c.2697G>A (p.Met899Ile)not provided [RCV002750472]uncertain significance104735118147351181Humanname
156032821CV2037051single nucleotide variantNM_002900.3(RBP3):c.1283C>T (p.Ser428Phe)not provided [RCV002781181]uncertain significance104734976747349767Humanname
10768796CV204543single nucleotide variantNM_002900.3(RBP3):c.1037G>A (p.Arg346His)Retinitis pigmentosa 66 [RCV000206981]|Retinitis pigmentosa [RCV001103798]|not provided [RCV000947248]|not specified [RCV001723760]benign|uncertain significance104734952147349521Human3name
10768742CV204544single nucleotide variantNM_002900.3(RBP3):c.1135G>A (p.Ala379Thr)Retinitis pigmentosa 66 [RCV000206905]|Retinitis pigmentosa [RCV000288845]|not provided [RCV001852525]uncertain significance104734961947349619Human3name
10768772CV204545single nucleotide variantNM_002900.3(RBP3):c.1298C>T (p.Ser433Leu)Retinitis pigmentosa 66 [RCV000206945]|not provided [RCV001321092]uncertain significance104734978247349782Human1name
10768807CV204546single nucleotide variantNM_002900.3(RBP3):c.1327C>A (p.Arg443Ser)Retinitis pigmentosa 66 [RCV000206995]uncertain significance104734981147349811Human1name
10768787CV204547single nucleotide variantNM_002900.3(RBP3):c.1553A>G (p.Gln518Arg)Retinitis pigmentosa 66 [RCV000206967]|not provided [RCV001053424]uncertain significance104735003747350037Human1name
10768804CV204548single nucleotide variantNM_002900.3(RBP3):c.1569C>G (p.His523Gln)RBP3-related disorder [RCV003937674]|Retinitis pigmentosa 66 [RCV000206990]|not provided [RCV001439041]likely benign|conflicting interpretations of pathogenicity|uncertain significance104735005347350053Human1name , alternate_id
10768751CV204549single nucleotide variantNM_002900.3(RBP3):c.1603C>T (p.Arg535Cys)Retinal dystrophy [RCV003888640]|Retinitis pigmentosa 66 [RCV000206916]|not provided [RCV001341968]uncertain significance104735008747350087Human3name
10768823CV204550single nucleotide variantNM_002900.3(RBP3):c.1778T>C (p.Val593Ala)Retinitis pigmentosa 66 [RCV000207015]uncertain significance104735026247350262Human1name
10768758CV204551single nucleotide variantNM_002900.3(RBP3):c.1795A>G (p.Ile599Val)RBP3-related disorder [RCV003917725]|Retinal dystrophy [RCV004816319]|Retinitis pigmentosa 66 [RCV000206927]|Retinitis pigmentosa [RCV001105649]|Retinitis pigmentosa [RCV005396567]|not provided [RCV000371593]likely benign|conflicting interpretations of pathogenicity|uncertain significance104735027947350279Human5name , alternate_id
10768819CV204552single nucleotide variantNM_002900.3(RBP3):c.1844C>T (p.Ala615Val)Retinitis pigmentosa 66 [RCV000207011]uncertain significance104735032847350328Human1name
10768766CV204553single nucleotide variantNM_002900.3(RBP3):c.2024C>T (p.Thr675Ile)Retinitis pigmentosa 66 [RCV000206937]uncertain significance104735050847350508Human1name
10768790CV204554single nucleotide variantNM_002900.3(RBP3):c.2063C>T (p.Ala688Val)Retinitis pigmentosa 66 [RCV000206971]|Retinitis pigmentosa [RCV001103700]|Retinitis pigmentosa [RCV005396568]|not provided [RCV001172034]uncertain significance104735054747350547Human3name
10768741CV204555single nucleotide variantNM_002900.3(RBP3):c.2077G>A (p.Val693Met)Retinitis pigmentosa 66 [RCV000206904]|Retinitis pigmentosa [RCV001103699]|not provided [RCV000973192]benign|uncertain significance104735056147350561Human3name
10768794CV204556single nucleotide variantNM_002900.3(RBP3):c.2221G>A (p.Gly741Ser)Retinitis pigmentosa 66 [RCV000206977]|Retinitis pigmentosa [RCV000394626]|not provided [RCV001852526]uncertain significance104735070547350705Human3name
10768737CV204557single nucleotide variantNM_002900.3(RBP3):c.2239C>T (p.Arg747Cys)Retinitis pigmentosa 66 [RCV000206898]uncertain significance104735072347350723Human1name
10768777CV204558single nucleotide variantNM_002900.3(RBP3):c.2355C>A (p.Asn785Lys)Retinitis pigmentosa 66 [RCV000206953]uncertain significance104735083947350839Human1name
10768811CV204559single nucleotide variantNM_002900.3(RBP3):c.2497C>T (p.Arg833Cys)RBP3-related disorder [RCV004752787]|Retinal dystrophy [RCV004816320]|Retinitis pigmentosa 66 [RCV000207000]|not provided [RCV001226061]likely benign|uncertain significance104735098147350981Human3name , alternate_id
10768733CV204560single nucleotide variantNM_002900.3(RBP3):c.2503G>A (p.Gly835Ser)Retinitis pigmentosa 66 [RCV000206893]|Retinitis pigmentosa [RCV001106686]|not provided [RCV001046800]uncertain significance104735098747350987Human3name
10768775CV204561single nucleotide variantNM_002900.3(RBP3):c.2708C>G (p.Thr903Arg)Retinitis pigmentosa 66 [RCV000206948]uncertain significance104735119247351192Human1name
10768809CV204562single nucleotide variantNM_002900.3(RBP3):c.2763C>A (p.Ser921Arg)Retinitis pigmentosa 66 [RCV000206998]|not provided [RCV001307856]uncertain significance104735124747351247Human1name
10768754CV204563single nucleotide variantNM_002900.3(RBP3):c.2866G>A (p.Glu956Lys)Retinitis pigmentosa 66 [RCV000206922]|not provided [RCV001366870]uncertain significance104735135047351350Human1name
10768770CV204564single nucleotide variantNM_002900.3(RBP3):c.2888C>T (p.Thr963Ile)Retinitis pigmentosa 66 [RCV000206943]uncertain significance104735137247351372Human1name
156348416CV2052072single nucleotide variantNM_002900.3(RBP3):c.1157T>A (p.Leu386Gln)not provided [RCV002811600]uncertain significance104734964147349641Humanname
156271209CV2055980single nucleotide variantNM_002900.3(RBP3):c.1577T>C (p.Leu526Pro)not provided [RCV002806667]uncertain significance104735006147350061Humanname
156334137CV2057671single nucleotide variantNM_002900.3(RBP3):c.2352C>A (p.Tyr784Ter)not provided [RCV002810842]pathogenic104735083647350836Humanname
155993692CV2059864single nucleotide variantNM_002900.3(RBP3):c.2898C>A (p.Ser966Arg)Inborn genetic diseases [RCV003308292]|not provided [RCV002819323]uncertain significance104735138247351382Human1name
156306607CV2066966single nucleotide variantNM_002900.3(RBP3):c.2502C>A (p.Tyr834Ter)not provided [RCV002833887]pathogenic104735098647350986Humanname
156306935CV2066984single nucleotide variantNM_002900.3(RBP3):c.2818G>A (p.Val940Met)not provided [RCV002833903]uncertain significance104735130247351302Humanname
156267704CV2092315single nucleotide variantNM_002900.3(RBP3):c.1036C>T (p.Arg346Cys)Retinal dystrophy [RCV003889178]|not provided [RCV002895818]uncertain significance104734952047349520Human2name
155994742CV2095681single nucleotide variantNM_002900.3(RBP3):c.2866G>T (p.Glu956Ter)not provided [RCV002908327]pathogenic104735135047351350Humanname
156321573CV2101053single nucleotide variantNM_002900.3(RBP3):c.1943A>G (p.Glu648Gly)not provided [RCV002899330]uncertain significance104735042747350427Humanname
156107114CV2108053single nucleotide variantNM_002900.3(RBP3):c.2675C>T (p.Ser892Phe)not provided [RCV002927269]uncertain significance104735115947351159Humanname
156308379CV2123254single nucleotide variantNM_002900.3(RBP3):c.1858G>A (p.Glu620Lys)not provided [RCV002962478]uncertain significance104735034247350342Humanname
155952119CV2123577single nucleotide variantNM_002900.3(RBP3):c.1618C>T (p.Leu540Phe)Inborn genetic diseases [RCV002944068]|Retinal dystrophy [RCV004817151]|not provided [RCV002971924]uncertain significance104735010247350102Human3name
156358805CV2126280single nucleotide variantNM_002900.3(RBP3):c.2203A>G (p.Lys735Glu)not provided [RCV002966843]uncertain significance104735068747350687Humanname
156214754CV2127930single nucleotide variantNM_002900.3(RBP3):c.1040T>G (p.Val347Gly)not provided [RCV002957897]uncertain significance104734952447349524Humanname
155945930CV2130226single nucleotide variantNM_002900.3(RBP3):c.2626G>A (p.Ala876Thr)not provided [RCV002971579]uncertain significance104735111047351110Humanname
156166101CV2133373single nucleotide variantNM_002900.3(RBP3):c.1171G>C (p.Gly391Arg)not provided [RCV003005240]uncertain significance104734965547349655Humanname
156057441CV2133947single nucleotide variantNM_002900.3(RBP3):c.2422C>A (p.His808Asn)not provided [RCV003000082]uncertain significance104735090647350906Humanname
155904278CV2137572single nucleotide variantNM_002900.3(RBP3):c.1571T>A (p.Met524Lys)not provided [RCV003011824]uncertain significance104735005547350055Humanname
155970270CV2139690single nucleotide variantNM_002900.3(RBP3):c.1073A>G (p.Asp358Gly)not provided [RCV002995590]uncertain significance104734955747349557Humanname
156106079CV2139903single nucleotide variantNM_002900.3(RBP3):c.1603C>G (p.Arg535Gly)not provided [RCV003002398]uncertain significance104735008747350087Humanname
155962929CV2140775single nucleotide variantNM_002900.3(RBP3):c.1718T>C (p.Leu573Pro)not provided [RCV003015560]uncertain significance104735020247350202Humanname
155910786CV2141591single nucleotide variantNM_002900.3(RBP3):c.1994G>A (p.Arg665Gln)not provided [RCV002968034]uncertain significance104735047847350478Humanname
156033693CV2142319single nucleotide variantNM_002900.3(RBP3):c.2924T>C (p.Val975Ala)not provided [RCV002976714]uncertain significance104735140847351408Humanname
156261835CV2143330single nucleotide variantNM_002900.3(RBP3):c.1487T>A (p.Phe496Tyr)not provided [RCV003008951]uncertain significance104734997147349971Humanname
156017307CV2155215single nucleotide variantNM_002900.3(RBP3):c.1683G>A (p.Trp561Ter)not provided [RCV003018057]pathogenic104735016747350167Humanname
156293013CV2156533deletionNM_002900.3(RBP3):c.3444del (p.Gly1149fs)not provided [RCV003010043]uncertain significance104735715647357156Humanname
156366054CV2163462single nucleotide variantNM_002900.3(RBP3):c.2042C>T (p.Ser681Phe)not provided [RCV003031889]uncertain significance104735052647350526Humanname
156304803CV2167430single nucleotide variantNM_002900.3(RBP3):c.2202C>G (p.Phe734Leu)not provided [RCV003045727]uncertain significance104735068647350686Humanname
156397744CV2174708single nucleotide variantNM_002900.3(RBP3):c.2855A>C (p.Tyr952Ser)not provided [RCV003052027]uncertain significance104735133947351339Humanname
156120777CV2174892single nucleotide variantNM_002900.3(RBP3):c.2164T>C (p.Ser722Pro)not provided [RCV003055457]uncertain significance104735064847350648Humanname
156196246CV2175537single nucleotide variantNM_002900.3(RBP3):c.1328G>C (p.Arg443Pro)not provided [RCV003058003]uncertain significance104734981247349812Humanname
155960232CV2183404single nucleotide variantNM_002900.3(RBP3):c.2423A>G (p.His808Arg)not provided [RCV003032902]uncertain significance104735090747350907Humanname
156174309CV2188381single nucleotide variantNM_002900.3(RBP3):c.1631G>T (p.Arg544Leu)not provided [RCV003041130]uncertain significance104735011547350115Humanname
156253429CV2212552single nucleotide variantNM_002900.3(RBP3):c.2137G>T (p.Ala713Ser)Inborn genetic diseases [RCV002702584]uncertain significance104735062147350621Human1name
156384133CV2220289single nucleotide variantNM_002900.3(RBP3):c.2336T>A (p.Val779Glu)Inborn genetic diseases [RCV002723151]uncertain significance104735082047350820Human1name
156299949CV2244827single nucleotide variantNM_002900.3(RBP3):c.1330T>G (p.Phe444Val)Inborn genetic diseases [RCV002748455]uncertain significance104734981447349814Human1name
156100488CV2260260single nucleotide variantNM_002900.3(RBP3):c.1709C>T (p.Ala570Val)Inborn genetic diseases [RCV002799093]|Retinal dystrophy [RCV003889270]uncertain significance104735019347350193Human3name
11050315CV226530single nucleotide variantNM_002900.3(RBP3):c.1237C>T (p.Pro413Ser)Retinal dystrophy [RCV000210290]|not provided [RCV001038992]likely pathogenic|uncertain significance104734972147349721Human2name
156275179CV2287575single nucleotide variantNM_002900.3(RBP3):c.1781C>T (p.Pro594Leu)Inborn genetic diseases [RCV002877839]uncertain significance104735026547350265Human1name
155930786CV2297068single nucleotide variantNM_002900.3(RBP3):c.2749A>T (p.Thr917Ser)Inborn genetic diseases [RCV002860941]uncertain significance104735123347351233Human1name
156300734CV2306992single nucleotide variantNM_002900.3(RBP3):c.1630C>T (p.Arg544Cys)Inborn genetic diseases [RCV002897923]uncertain significance104735011447350114Human1name
243051553CV2413703single nucleotide variantNM_002900.3(RBP3):c.1412C>A (p.Thr471Lys)Retinitis pigmentosa 66 [RCV003130393]uncertain significance104734989647349896Human1name
329401177CV2446232single nucleotide variantNM_002900.3(RBP3):c.2752G>A (p.Val918Met)Inborn genetic diseases [RCV003198182]uncertain significance104735123647351236Human1name
329378150CV2459164single nucleotide variantNM_002900.3(RBP3):c.2084G>A (p.Gly695Glu)Inborn genetic diseases [RCV003212105]uncertain significance104735056847350568Human1name
11643962CV269269single nucleotide variantNM_002900.3(RBP3):c.1928C>T (p.Thr643Ile)not provided [RCV000402776]uncertain significance104735041247350412Humanname
401739529CV2718652single nucleotide variantNM_002900.3(RBP3):c.2846C>T (p.Ala949Val)Inborn genetic diseases [RCV003273973]uncertain significance104735133047351330Human1name
401931500CV2798089duplicationNM_002900.3(RBP3):c.3354dup (p.Val1119fs)RBP3-related disorder [RCV003391342]likely pathogenic104735548347355484Humanname , trait , alternate_id
11608093CV310349single nucleotide variantNM_002900.3(RBP3):c.1123G>A (p.Gly375Ser)Inborn genetic diseases [RCV004955405]|Retinitis pigmentosa [RCV000350740]|not provided [RCV002520591]uncertain significance104734960747349607Human3name
11610259CV310351single nucleotide variantNM_002900.3(RBP3):c.1399C>T (p.Pro467Ser)Retinitis pigmentosa [RCV000379039]|not provided [RCV001040424]uncertain significance104734988347349883Human2name
11653332CV310353single nucleotide variantNM_002900.3(RBP3):c.2012G>A (p.Gly671Asp)Retinitis pigmentosa [RCV000310196]uncertain significance104735049647350496Human2name
11605419CV310362single nucleotide variantNM_002900.3(RBP3):c.2416C>T (p.Arg806Cys)Retinitis pigmentosa [RCV000319334]|not provided [RCV000968658]benign|uncertain significance104735090047350900Human2name
11609300CV310370single nucleotide variantNM_002900.3(RBP3):c.2899G>A (p.Gly967Ser)Retinitis pigmentosa [RCV000366232]|not provided [RCV001067450]uncertain significance104735138347351383Human2name
405154451CV3135184single nucleotide variantNM_002900.3(RBP3):c.2905C>T (p.Gln969Ter)not provided [RCV003840296]pathogenic104735138947351389Humanname
11609436CV315430single nucleotide variantNM_002900.3(RBP3):c.1007T>C (p.Val336Ala)Retinitis pigmentosa [RCV000367941]|not provided [RCV001207901]uncertain significance104734949147349491Human2name
11610183CV315439single nucleotide variantNM_002900.3(RBP3):c.1207G>A (p.Ala403Thr)Retinitis pigmentosa [RCV000378014]|not provided [RCV001350649]uncertain significance104734969147349691Human2name
11601999CV315447single nucleotide variantNM_002900.3(RBP3):c.1384C>T (p.Arg462Cys)Retinitis pigmentosa [RCV000286960]|not provided [RCV001240016]uncertain significance104734986847349868Human2name
11606360CV315477single nucleotide variantNM_002900.3(RBP3):c.2591G>A (p.Arg864Gln)Retinitis pigmentosa [RCV000330377]|not provided [RCV001373324]uncertain significance104735107547351075Human2name
405262990CV3188465single nucleotide variantNM_002900.3(RBP3):c.2647C>G (p.Gln883Glu)Retinal dystrophy [RCV003889529]uncertain significance104735113147351131Human2name
405262992CV3188466single nucleotide variantNM_002900.3(RBP3):c.2417G>A (p.Arg806His)Retinal dystrophy [RCV003889530]uncertain significance104735090147350901Human2name
405262996CV3188467single nucleotide variantNM_002900.3(RBP3):c.2372C>T (p.Thr791Met)Retinal dystrophy [RCV003889531]uncertain significance104735085647350856Human2name
405262997CV3188469single nucleotide variantNM_002900.3(RBP3):c.1902A>C (p.Gln634His)Retinal dystrophy [RCV003889533]uncertain significance104735038647350386Human2name
405263001CV3188470single nucleotide variantNM_002900.3(RBP3):c.1753C>T (p.Pro585Ser)Retinal dystrophy [RCV003889534]likely benign104735023747350237Human2name
405263003CV3188473single nucleotide variantNM_002900.3(RBP3):c.1589G>A (p.Arg530His)Retinal dystrophy [RCV003889537]uncertain significance104735007347350073Human2name
405263013CV3188474single nucleotide variantNM_002900.3(RBP3):c.1588C>A (p.Arg530Ser)Retinal dystrophy [RCV003889538]uncertain significance104735007247350072Human2name
405263015CV3188475single nucleotide variantNM_002900.3(RBP3):c.1525A>G (p.Thr509Ala)Retinal dystrophy [RCV003889539]uncertain significance104735000947350009Human2name
405263017CV3188476single nucleotide variantNM_002900.3(RBP3):c.1502C>A (p.Ala501Asp)Retinal dystrophy [RCV003889540]uncertain significance104734998647349986Human2name
405263035CV3188477single nucleotide variantNM_002900.3(RBP3):c.1354G>T (p.Val452Phe)Retinal dystrophy [RCV003889541]uncertain significance104734983847349838Human2name
11612177CV321425single nucleotide variantNM_002900.3(RBP3):c.1141G>C (p.Glu381Gln)Inborn genetic diseases [RCV002522158]|Retinal dystrophy [RCV004816530]|Retinitis pigmentosa [RCV000404738]|not provided [RCV000519611]uncertain significance104734962547349625Human5name
11608492CV321426single nucleotide variantNM_002900.3(RBP3):c.1754C>A (p.Pro585His)Inborn genetic diseases [RCV002520589]|Retinitis pigmentosa [RCV000355676]|not provided [RCV001859783]uncertain significance104735023847350238Human3name
11662918CV321448single nucleotide variantNM_002900.3(RBP3):c.1919T>C (p.Val640Ala)Retinitis pigmentosa [RCV000390320]uncertain significance104735040347350403Human2name
11609010CV321462single nucleotide variantNM_002900.3(RBP3):c.1933C>T (p.His645Tyr)Retinitis pigmentosa [RCV000362609]|not provided [RCV000900247]benign|uncertain significance104735041747350417Human2name
11645608CV321469single nucleotide variantNM_002900.3(RBP3):c.2949G>C (p.Glu983Asp)Retinitis pigmentosa [RCV000266187]uncertain significance104735143347351433Human2name
11607776CV322179single nucleotide variantNM_002900.3(RBP3):c.1146T>G (p.Asp382Glu)Retinitis pigmentosa [RCV000347360]|not provided [RCV001327203]uncertain significance104734963047349630Human2name
11644420CV322182single nucleotide variantNM_002900.3(RBP3):c.1742T>A (p.Leu581Gln)Retinitis pigmentosa [RCV000259849]uncertain significance104735022647350226Human2name
11653871CV322194single nucleotide variantNM_002900.3(RBP3):c.1813G>C (p.Ala605Pro)Retinitis pigmentosa [RCV000313513]uncertain significance104735029747350297Human2name
11601518CV322207single nucleotide variantNM_002900.3(RBP3):c.2125G>T (p.Val709Leu)Inborn genetic diseases [RCV002520588]|Retinitis pigmentosa [RCV000282751]|not provided [RCV001321364]uncertain significance104735060947350609Human3name
11601064CV322209single nucleotide variantNM_002900.3(RBP3):c.2270T>G (p.Val757Gly)Retinitis pigmentosa [RCV000279369]|not provided [RCV001361430]uncertain significance104735075447350754Human2name
11609695CV322243single nucleotide variantNM_002900.3(RBP3):c.2407G>A (p.Ala803Thr)Inborn genetic diseases [RCV002520587]|Retinal dystrophy [RCV003888711]|Retinitis pigmentosa [RCV000371632]|not provided [RCV001850585]uncertain significance104735089147350891Human5name
11606056CV322252single nucleotide variantNM_002900.3(RBP3):c.2626G>T (p.Ala876Ser)Inborn genetic diseases [RCV002522157]|Retinitis pigmentosa [RCV000326768]|not provided [RCV001511061]benign|uncertain significance104735111047351110Human3name
11604474CV322270single nucleotide variantNM_002900.3(RBP3):c.2921G>A (p.Arg974Lys)Inborn genetic diseases [RCV003165812]|Retinitis pigmentosa [RCV000309650]|not provided [RCV001297642]uncertain significance104735140547351405Human3name
405681900CV3319231single nucleotide variantNM_002900.3(RBP3):c.1322A>C (p.Tyr441Ser)Inborn genetic diseases [RCV004443499]uncertain significance104734980647349806Human1name
405681906CV3319232single nucleotide variantNM_002900.3(RBP3):c.1444C>G (p.Pro482Ala)Inborn genetic diseases [RCV004443500]uncertain significance104734992847349928Human1name
405681913CV3319233single nucleotide variantNM_002900.3(RBP3):c.1558C>A (p.His520Asn)Inborn genetic diseases [RCV004443501]uncertain significance104735004247350042Human1name
405681919CV3319234single nucleotide variantNM_002900.3(RBP3):c.1573G>C (p.Glu525Gln)Inborn genetic diseases [RCV004443502]uncertain significance104735005747350057Human1name
405681923CV3319235single nucleotide variantNM_002900.3(RBP3):c.1666A>G (p.Met556Val)Inborn genetic diseases [RCV004443503]uncertain significance104735015047350150Human1name
405681928CV3319236single nucleotide variantNM_002900.3(RBP3):c.2532G>A (p.Met844Ile)Inborn genetic diseases [RCV004443504]uncertain significance104735101647351016Human1name
405681934CV3319237single nucleotide variantNM_002900.3(RBP3):c.2666T>C (p.Leu889Ser)Inborn genetic diseases [RCV004443505]uncertain significance104735115047351150Human1name
405681939CV3319238single nucleotide variantNM_002900.3(RBP3):c.2687A>G (p.Gln896Arg)Inborn genetic diseases [RCV004443506]uncertain significance104735117147351171Human1name
405681945CV3319239single nucleotide variantNM_002900.3(RBP3):c.2732G>A (p.Gly911Asp)Inborn genetic diseases [RCV004443507]uncertain significance104735121647351216Human1name
596945697CV3407575single nucleotide variantNM_002900.3(RBP3):c.1113G>C (p.Lys371Asn)Retinal dystrophy [RCV004818668]uncertain significance104734959747349597Human2name
596945713CV3407583single nucleotide variantNM_002900.3(RBP3):c.1343C>T (p.Ala448Val)Retinal dystrophy [RCV004818676]uncertain significance104734982747349827Human2name
596939092CV3407615single nucleotide variantNM_002900.3(RBP3):c.2348G>A (p.Arg783His)Retinal dystrophy [RCV004814075]uncertain significance104735083247350832Human2name
596945972CV3409156single nucleotide variantNM_002900.3(RBP3):c.1366T>A (p.Leu456Met)Retinal dystrophy [RCV004818790]uncertain significance104734985047349850Human2name
407467880CV3465099single nucleotide variantNM_002900.3(RBP3):c.1258G>T (p.Ala420Ser)Inborn genetic diseases [RCV004660916]uncertain significance104734974247349742Human1name
407507479CV3465100single nucleotide variantNM_002900.3(RBP3):c.1259C>A (p.Ala420Asp)Inborn genetic diseases [RCV004671739]uncertain significance104734974347349743Human1name
407507482CV3465102single nucleotide variantNM_002900.3(RBP3):c.1777G>C (p.Val593Leu)Inborn genetic diseases [RCV004671740]uncertain significance104735026147350261Human1name
407467890CV3465105single nucleotide variantNM_002900.3(RBP3):c.2297G>A (p.Arg766Gln)Inborn genetic diseases [RCV004660920]likely benign104735078147350781Human1name
597708848CV3586224single nucleotide variantNM_002900.3(RBP3):c.1657G>A (p.Ala553Thr)Inborn genetic diseases [RCV004957669]uncertain significance104735014147350141Human1name
597708842CV3586226single nucleotide variantNM_002900.3(RBP3):c.2554G>C (p.Ala852Pro)Inborn genetic diseases [RCV004957670]uncertain significance104735103847351038Human1name
597708817CV3586230single nucleotide variantNM_002900.3(RBP3):c.1468C>A (p.Pro490Thr)Inborn genetic diseases [RCV004957674]uncertain significance104734995247349952Human1name
597931585CV3742548single nucleotide variantNM_002900.3(RBP3):c.2267C>G (p.Thr756Arg)not provided [RCV005075986]uncertain significance104735075147350751Humanname
597891427CV3803818single nucleotide variantNM_002900.3(RBP3):c.2646C>G (p.Tyr882Ter)not provided [RCV005151379]pathogenic104735113047351130Humanname
598254922CV3898933single nucleotide variantNM_002900.3(RBP3):c.2281G>C (p.Gly761Arg)Inborn genetic diseases [RCV005259805]uncertain significance104735076547350765Human1name
598254931CV3898935single nucleotide variantNM_002900.3(RBP3):c.2048C>T (p.Ala683Val)Inborn genetic diseases [RCV005259807]uncertain significance104735053247350532Human1name
598176578CV4008153single nucleotide variantNM_002900.3(RBP3):c.2644T>C (p.Tyr882His)Retinitis pigmentosa [RCV005393669]uncertain significance104735112847351128Human2name
13520126CV489328single nucleotide variantNM_002900.3(RBP3):c.1534C>T (p.Arg512Cys)not provided [RCV000598398]uncertain significance104735001847350018Humanname
15116705CV767750single nucleotide variantNM_002900.3(RBP3):c.1333G>C (p.Asp445His)Retinal dystrophy [RCV003890093]|not provided [RCV000939710]likely benign104734981747349817Human2name
21072997CV796403single nucleotide variantNM_002900.3(RBP3):c.2133G>C (p.Glu711Asp)not provided [RCV000994385]uncertain significance104735061747350617Humanname
21073148CV796404single nucleotide variantNM_002900.3(RBP3):c.2362A>G (p.Ser788Gly)Inborn genetic diseases [RCV003346250]|not provided [RCV000994384]uncertain significance104735084647350846Human1name
21073153CV796405single nucleotide variantNM_002900.3(RBP3):c.2402T>C (p.Phe801Ser)not provided [RCV000994383]uncertain significance104735088647350886Humanname
26901192CV836880single nucleotide variantNM_002900.3(RBP3):c.1013A>G (p.Lys338Arg)not provided [RCV001068379]uncertain significance104734949747349497Humanname
26919895CV836881single nucleotide variantNM_002900.3(RBP3):c.1068C>G (p.Ser356Arg)Retinal dystrophy [RCV004813598]|not provided [RCV001046612]uncertain significance104734955247349552Human2name
26919369CV836882single nucleotide variantNM_002900.3(RBP3):c.1271C>T (p.Ala424Val)Inborn genetic diseases [RCV002553121]|not provided [RCV001045402]uncertain significance104734975547349755Human1name
26920242CV836883single nucleotide variantNM_002900.3(RBP3):c.1394G>A (p.Trp465Ter)not provided [RCV001047198]pathogenic104734987847349878Humanname
26915796CV836884single nucleotide variantNM_002900.3(RBP3):c.1427T>C (p.Met476Thr)not provided [RCV001039461]uncertain significance104734991147349911Humanname
26920261CV836885single nucleotide variantNM_002900.3(RBP3):c.1490A>G (p.Gln497Arg)Inborn genetic diseases [RCV004031464]|not provided [RCV001047243]likely benign|uncertain significance104734997447349974Human1name
26889337CV836886single nucleotide variantNM_002900.3(RBP3):c.1733C>A (p.Thr578Lys)Inborn genetic diseases [RCV004031837]|not provided [RCV001058126]uncertain significance104735021747350217Human1name
26917342CV836887single nucleotide variantNM_002900.3(RBP3):c.1781C>G (p.Pro594Arg)not provided [RCV001041743]uncertain significance104735026547350265Humanname
26887932CV836888single nucleotide variantNM_002900.3(RBP3):c.1848C>G (p.Ile616Met)not provided [RCV001056944]uncertain significance104735033247350332Humanname
26893303CV836889single nucleotide variantNM_002900.3(RBP3):c.1864G>T (p.Ala622Ser)not provided [RCV001062592]uncertain significance104735034847350348Humanname
26885346CV836890single nucleotide variantNM_002900.3(RBP3):c.1958G>A (p.Arg653Gln)Inborn genetic diseases [RCV004031683]|not provided [RCV001053364]uncertain significance104735044247350442Human1name
26921074CV836891single nucleotide variantNM_002900.3(RBP3):c.2023A>G (p.Thr675Ala)Inborn genetic diseases [RCV004671193]|not provided [RCV001049175]uncertain significance104735050747350507Human1name
26920812CV836892single nucleotide variantNM_002900.3(RBP3):c.2129T>C (p.Val710Ala)not provided [RCV001048592]uncertain significance104735061347350613Humanname
26905066CV836893single nucleotide variantNM_002900.3(RBP3):c.2156C>T (p.Ala719Val)Retinal dystrophy [RCV001074925]|not provided [RCV001057281]uncertain significance104735064047350640Human2name
26894283CV836894single nucleotide variantNM_002900.3(RBP3):c.2194G>A (p.Ala732Thr)not provided [RCV001063356]uncertain significance104735067847350678Humanname
26921267CV836895single nucleotide variantNM_002900.3(RBP3):c.2544T>A (p.Ser848Arg)not provided [RCV001049553]uncertain significance104735102847351028Humanname
26916024CV836896single nucleotide variantNM_002900.3(RBP3):c.2597C>T (p.Thr866Met)Inborn genetic diseases [RCV004031118]|Retinal dystrophy [RCV003890171]|not provided [RCV001039779]uncertain significance104735108147351081Human3name
26891703CV836897single nucleotide variantNM_002900.3(RBP3):c.2762G>A (p.Ser921Asn)not provided [RCV001060786]uncertain significance104735124647351246Humanname
26901978CV836898single nucleotide variantNM_002900.3(RBP3):c.2900G>T (p.Gly967Val)Inborn genetic diseases [RCV002554557]|not provided [RCV001069007]uncertain significance104735138447351384Human1name
26893932CV836899single nucleotide variantNM_002900.3(RBP3):c.2991C>A (p.His997Gln)Inborn genetic diseases [RCV002554452]|not provided [RCV001063058]uncertain significance104735147547351475Human1name
26909552CV856664single nucleotide variantNM_002900.3(RBP3):c.2523C>G (p.Tyr841Ter)Retinal dystrophy [RCV001073631]|not provided [RCV001241759]pathogenic|likely pathogenic104735100747351007Human2name
26910316CV856665single nucleotide variantNM_002900.3(RBP3):c.2570A>C (p.His857Pro)Retinal dystrophy [RCV001074743]uncertain significance104735105447351054Human2name
28907786CV865890single nucleotide variantNM_002900.3(RBP3):c.1264C>T (p.Arg422Trp)Retinitis pigmentosa [RCV001107416]uncertain significance104734974847349748Human2name
28907783CV865891single nucleotide variantNM_002900.3(RBP3):c.1294G>C (p.Val432Leu)Retinitis pigmentosa [RCV001107415]uncertain significance104734977847349778Human2name
28906654CV865892single nucleotide variantNM_002900.3(RBP3):c.1588C>T (p.Arg530Cys)Inborn genetic diseases [RCV004032121]|Retinal dystrophy [RCV003890249]|Retinitis pigmentosa [RCV001106783]|not provided [RCV001856430]uncertain significance104735007247350072Human5name
28910057CV865896single nucleotide variantNM_002900.3(RBP3):c.2327C>A (p.Ala776Asp)Retinitis pigmentosa [RCV001108852]uncertain significance104735081147350811Human2name
28906492CV865897single nucleotide variantNM_002900.3(RBP3):c.2497C>A (p.Arg833Ser)Inborn genetic diseases [RCV005262250]|Retinitis pigmentosa [RCV001106687]uncertain significance104735098147350981Human3name
38461825CV919270single nucleotide variantNM_002900.3(RBP3):c.2789T>C (p.Ile930Thr)Retinitis pigmentosa [RCV001197952]|not provided [RCV005094059]uncertain significance104735127347351273Human2name
38476426CV935048single nucleotide variantNM_002900.3(RBP3):c.1504G>A (p.Gly502Ser)not provided [RCV001204651]uncertain significance104734998847349988Humanname
38477112CV935050single nucleotide variantNM_002900.3(RBP3):c.1645G>A (p.Ala549Thr)not provided [RCV001204943]uncertain significance104735012947350129Humanname
38472231CV935052single nucleotide variantNM_002900.3(RBP3):c.2320G>A (p.Asp774Asn)Inborn genetic diseases [RCV002561835]|not provided [RCV001214010]uncertain significance104735080447350804Human1name
38482261CV935053single nucleotide variantNM_002900.3(RBP3):c.2341G>C (p.Asp781His)Retinitis pigmentosa [RCV005419033]|not provided [RCV001207193]pathogenic|uncertain significance104735082547350825Human2name
38486055CV935054single nucleotide variantNM_002900.3(RBP3):c.2360G>A (p.Gly787Asp)not provided [RCV001208730]uncertain significance104735084447350844Humanname
38475283CV935055single nucleotide variantNM_002900.3(RBP3):c.2575A>G (p.Met859Val)not provided [RCV001204211]uncertain significance104735105947351059Humanname
38482523CV946908single nucleotide variantNM_002900.3(RBP3):c.1084G>T (p.Val362Leu)not provided [RCV001235558]uncertain significance104734956847349568Humanname
38475387CV946909single nucleotide variantNM_002900.3(RBP3):c.1216G>A (p.Glu406Lys)Retinal dystrophy [RCV003887932]|not provided [RCV001232613]likely benign|uncertain significance104734970047349700Human2name
38488847CV946910single nucleotide variantNM_002900.3(RBP3):c.1400C>T (p.Pro467Leu)Inborn genetic diseases [RCV002563908]|not provided [RCV001238175]uncertain significance104734988447349884Human1name
38496831CV946911single nucleotide variantNM_002900.3(RBP3):c.1538G>A (p.Arg513His)not provided [RCV001226658]uncertain significance104735002247350022Humanname
38473684CV946912single nucleotide variantNM_002900.3(RBP3):c.1756G>A (p.Glu586Lys)Inborn genetic diseases [RCV002563212]|Retinitis pigmentosa 66 [RCV003132313]|not provided [RCV001231898]uncertain significance104735024047350240Human2name
38484410CV946913single nucleotide variantNM_002900.3(RBP3):c.1969G>A (p.Val657Met)Retinal dystrophy [RCV003887940]|not provided [RCV001236326]uncertain significance104735045347350453Human2name
38459445CV946914single nucleotide variantNM_002900.3(RBP3):c.2137G>C (p.Ala713Pro)not provided [RCV001229141]uncertain significance104735062147350621Humanname
38480632CV946915single nucleotide variantNM_002900.3(RBP3):c.2296C>T (p.Arg766Trp)not provided [RCV001234789]uncertain significance104735078047350780Humanname
38489378CV946916single nucleotide variantNM_002900.3(RBP3):c.2330C>T (p.Ala777Val)Inborn genetic diseases [RCV004034576]|not provided [RCV001238392]uncertain significance104735081447350814Human1name
38470565CV946917single nucleotide variantNM_002900.3(RBP3):c.2428T>C (p.Tyr810His)Inborn genetic diseases [RCV003294102]|not provided [RCV001231008]uncertain significance104735091247350912Human1name
38465530CV946918single nucleotide variantNM_002900.3(RBP3):c.2816C>G (p.Thr939Arg)not provided [RCV001230163]uncertain significance104735130047351300Humanname
38499300CV956064single nucleotide variantNM_002900.3(RBP3):c.1077C>A (p.Phe359Leu)not provided [RCV001244449]uncertain significance104734956147349561Humanname
38493382CV956065single nucleotide variantNM_002900.3(RBP3):c.1258G>A (p.Ala420Thr)Inborn genetic diseases [RCV005262334]|not provided [RCV001240649]uncertain significance104734974247349742Human1name
38491858CV956067single nucleotide variantNM_002900.3(RBP3):c.1442A>C (p.Asn481Thr)Inborn genetic diseases [RCV005262332]|not provided [RCV001239714]uncertain significance104734992647349926Human1name
38465106CV956068single nucleotide variantNM_002900.3(RBP3):c.1870G>A (p.Asp624Asn)not provided [RCV001247502]uncertain significance104735035447350354Humanname
38499094CV956069single nucleotide variantNM_002900.3(RBP3):c.1923G>T (p.Glu641Asp)not provided [RCV001244229]uncertain significance104735040747350407Humanname
38498491CV956070single nucleotide variantNM_002900.3(RBP3):c.2092C>G (p.Arg698Gly)not provided [RCV001243862]uncertain significance104735057647350576Humanname
38497038CV956072single nucleotide variantNM_002900.3(RBP3):c.2623G>A (p.Gly875Ser)not provided [RCV001242936]uncertain significance104735110747351107Humanname
38492128CV956074single nucleotide variantNM_002900.3(RBP3):c.2936T>A (p.Val979Glu)not provided [RCV001239917]uncertain significance104735142047351420Humanname
40815994CV967091single nucleotide variantNM_002900.3(RBP3):c.1162C>T (p.Arg388Ter)Autosomal recessive retinitis pigmentosa [RCV001257783]|Retinitis pigmentosa 66 [RCV001376320]|not provided [RCV003558771]pathogenic|conflicting interpretations of pathogenicity104734964647349646Human2name
126766510CV993840single nucleotide variantNM_002900.3(RBP3):c.1282T>C (p.Ser428Pro)not provided [RCV001301907]uncertain significance104734976647349766Humanname
126732041CV993841single nucleotide variantNM_002900.3(RBP3):c.1333G>A (p.Asp445Asn)Inborn genetic diseases [RCV005262351]|not provided [RCV001294492]uncertain significance104734981747349817Human1name
126740006CV993842single nucleotide variantNM_002900.3(RBP3):c.1450G>A (p.Gly484Arg)not provided [RCV001295699]uncertain significance104734993447349934Humanname
126754043CV993843single nucleotide variantNM_002900.3(RBP3):c.1613A>G (p.Tyr538Cys)not provided [RCV001307536]uncertain significance104735009747350097Humanname
126754692CV993844single nucleotide variantNM_002900.3(RBP3):c.1636G>A (p.Ala546Thr)not provided [RCV001307688]uncertain significance104735012047350120Humanname
126756303CV993845single nucleotide variantNM_002900.3(RBP3):c.1919T>G (p.Val640Gly)not provided [RCV001298543]uncertain significance104735040347350403Humanname
126732113CV993846single nucleotide variantNM_002900.3(RBP3):c.2021G>A (p.Arg674His)Retinal dystrophy [RCV004815306]|not provided [RCV001304028]uncertain significance104735050547350505Human2name
126743462CV993847single nucleotide variantNM_002900.3(RBP3):c.2158G>T (p.Val720Phe)Inborn genetic diseases [RCV002543045]|not provided [RCV001296193]uncertain significance104735064247350642Human1name
126747752CV993848single nucleotide variantNM_002900.3(RBP3):c.2206A>G (p.Thr736Ala)not provided [RCV001296791]uncertain significance104735069047350690Humanname
126736600CV993849single nucleotide variantNM_002900.3(RBP3):c.2240G>A (p.Arg747His)Inborn genetic diseases [RCV002543110]|Retinitis pigmentosa 66 [RCV003135941]|not provided [RCV001304765]uncertain significance104735072447350724Human2name
126750455CV993850single nucleotide variantNM_002900.3(RBP3):c.2257G>A (p.Glu753Lys)not provided [RCV001297323]uncertain significance104735074147350741Humanname
126752253CV993851single nucleotide variantNM_002900.3(RBP3):c.2273A>G (p.Lys758Arg)not provided [RCV001307193]uncertain significance104735075747350757Humanname
126764951CV993852single nucleotide variantNM_002900.3(RBP3):c.2580G>T (p.Gln860His)not provided [RCV001301295]uncertain significance104735106447351064Humanname
126762060CV993853single nucleotide variantNM_002900.3(RBP3):c.2617G>A (p.Ala873Thr)not provided [RCV001309780]uncertain significance104735110147351101Humanname
126758146CV993854single nucleotide variantNM_002900.3(RBP3):c.2672C>T (p.Ala891Val)not provided [RCV001308629]uncertain significance104735115647351156Humanname
126746178CV993855single nucleotide variantNM_002900.3(RBP3):c.2888C>A (p.Thr963Asn)not provided [RCV001296542]uncertain significance104735137247351372Humanname
126746782CV993856single nucleotide variantNM_002900.3(RBP3):c.2974C>T (p.Leu992Phe)Inborn genetic diseases [RCV003373098]|not provided [RCV001296631]uncertain significance104735145847351458Human1name
8641004CV99989single nucleotide variantNM_002900.3(RBP3):c.1631G>A (p.Arg544His)RBP3-related disorder [RCV003974966]|Retinitis pigmentosa 66 [RCV000206963]|Retinitis pigmentosa [RCV001106782]|not provided [RCV000966384]|not specified [RCV000080036]benign|likely benign|uncertain significance104735011547350115Human3name , alternate_id
151792600CV1341494single nucleotide variantNM_002900.3(RBP3):c.3611G>A (p.Ser1204Asn)not provided [RCV001866383]uncertain significance104735732447357324Humanname
151822398CV1352015single nucleotide variantNM_002900.3(RBP3):c.3265A>G (p.Thr1089Ala)not provided [RCV002013514]uncertain significance104735539547355395Humanname
151831678CV1354490single nucleotide variantNM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln)Retinal dystrophy [RCV004815666]|Retinitis pigmentosa 66 [RCV002468646]|not provided [RCV001880369]likely pathogenic|uncertain significance104735547147355471Human3name
151816803CV1433229single nucleotide variantNM_002900.3(RBP3):c.3590C>T (p.Ser1197Phe)not provided [RCV001954362]uncertain significance104735730347357303Humanname
151785437CV1435341single nucleotide variantNM_002900.3(RBP3):c.3625G>C (p.Val1209Leu)not provided [RCV001916269]uncertain significance104735733847357338Humanname
151833686CV1446674single nucleotide variantNM_002900.3(RBP3):c.3487C>T (p.Arg1163Trp)not provided [RCV002031052]uncertain significance104735720047357200Humanname
151768839CV1450864single nucleotide variantNM_002900.3(RBP3):c.3008T>A (p.Ile1003Asn)not provided [RCV001929319]uncertain significance104735149247351492Humanname
151819697CV1488390single nucleotide variantNM_002900.3(RBP3):c.3631G>T (p.Val1211Leu)not provided [RCV001975608]uncertain significance104735734447357344Humanname
151838389CV1492635single nucleotide variantNM_002900.3(RBP3):c.3109G>A (p.Val1037Met)not provided [RCV002051467]uncertain significance104735337947353379Humanname
151839021CV1492821single nucleotide variantNM_002900.3(RBP3):c.3656C>A (p.Ala1219Glu)not provided [RCV001881116]uncertain significance104735736947357369Humanname
151785730CV1495335single nucleotide variantNM_002900.3(RBP3):c.3496G>T (p.Val1166Phe)not provided [RCV002026693]uncertain significance104735720947357209Humanname
151834395CV1505031single nucleotide variantNM_002900.3(RBP3):c.3389G>C (p.Gly1130Ala)not provided [RCV001976977]uncertain significance104735710247357102Humanname
151890053CV1514525single nucleotide variantNM_002900.3(RBP3):c.3059C>T (p.Pro1020Leu)not provided [RCV001963553]uncertain significance104735332947353329Humanname
155744372CV1773058single nucleotide variantNM_002900.3(RBP3):c.3215T>C (p.Met1072Thr)not provided [RCV002303112]uncertain significance104735348547353485Humanname
156097904CV2007487single nucleotide variantNM_002900.3(RBP3):c.3140T>C (p.Phe1047Ser)not provided [RCV002695192]uncertain significance104735341047353410Humanname
156123171CV2020988single nucleotide variantNM_002900.3(RBP3):c.3417G>A (p.Met1139Ile)not provided [RCV002740278]uncertain significance104735713047357130Humanname
156019588CV2029187single nucleotide variantNM_002900.3(RBP3):c.3631G>A (p.Val1211Met)not provided [RCV002735311]uncertain significance104735734447357344Humanname
155927903CV2095831single nucleotide variantNM_002900.3(RBP3):c.3577C>T (p.Pro1193Ser)not provided [RCV002903667]uncertain significance104735729047357290Humanname
155974241CV2148921single nucleotide variantNM_002900.3(RBP3):c.3194A>T (p.Glu1065Val)not provided [RCV003016081]uncertain significance104735346447353464Humanname
155967562CV2152277single nucleotide variantNM_002900.3(RBP3):c.3473T>C (p.Met1158Thr)not provided [RCV003015777]uncertain significance104735718647357186Humanname
401776724CV2703334single nucleotide variantNM_002900.3(RBP3):c.3699C>G (p.Asn1233Lys)Inborn genetic diseases [RCV003263316]uncertain significance104735741247357412Human1name
401883688CV2785736single nucleotide variantNM_002900.3(RBP3):c.3521G>A (p.Gly1174Asp)Inborn genetic diseases [RCV003386241]uncertain significance104735723447357234Human1name
405148406CV2962918single nucleotide variantNM_002900.3(RBP3):c.3395G>A (p.Arg1132His)not provided [RCV003673823]uncertain significance104735710847357108Humanname
405262967CV3188457single nucleotide variantNM_002900.3(RBP3):c.3709G>A (p.Val1237Met)Inborn genetic diseases [RCV004661812]|Retinal dystrophy [RCV003889521]uncertain significance104735742247357422Human3name
405262971CV3188459single nucleotide variantNM_002900.3(RBP3):c.3459G>C (p.Glu1153Asp)Retinal dystrophy [RCV003889523]likely pathogenic104735717247357172Human2name
405262972CV3188460single nucleotide variantNM_002900.3(RBP3):c.3307G>A (p.Gly1103Ser)Retinal dystrophy [RCV003889524]uncertain significance104735543747355437Human2name
405262974CV3188462single nucleotide variantNM_002900.3(RBP3):c.3085A>C (p.Ile1029Leu)Retinal dystrophy [RCV003889526]uncertain significance104735335547353355Human2name
405681955CV3319241single nucleotide variantNM_002900.3(RBP3):c.3166C>T (p.Leu1056Phe)Inborn genetic diseases [RCV004443509]uncertain significance104735343647353436Human1name
405681958CV3319242single nucleotide variantNM_002900.3(RBP3):c.3221C>T (p.Thr1074Met)Inborn genetic diseases [RCV004443510]|Retinal dystrophy [RCV004818452]uncertain significance104735349147353491Human3name
405681962CV3319243single nucleotide variantNM_002900.3(RBP3):c.3356T>C (p.Val1119Ala)Inborn genetic diseases [RCV004443511]uncertain significance104735548647355486Human1name
405681967CV3319244single nucleotide variantNM_002900.3(RBP3):c.3440C>G (p.Thr1147Arg)Inborn genetic diseases [RCV004443512]uncertain significance104735715347357153Human1name
596941766CV3408264single nucleotide variantNM_002900.3(RBP3):c.3432C>A (p.Ser1144Arg)Retinal dystrophy [RCV004815935]uncertain significance104735714547357145Human2name
596941770CV3408265single nucleotide variantNM_002900.3(RBP3):c.3681G>C (p.Lys1227Asn)Retinal dystrophy [RCV004815936]uncertain significance104735739447357394Human2name
596942548CV3408507single nucleotide variantNM_002900.3(RBP3):c.3253A>G (p.Ile1085Val)Retinal dystrophy [RCV004816178]uncertain significance104735538347355383Human2name
407467886CV3465103single nucleotide variantNM_002900.3(RBP3):c.3520G>A (p.Gly1174Ser)Inborn genetic diseases [RCV004660918]uncertain significance104735723347357233Human1name
597708837CV3586227single nucleotide variantNM_002900.3(RBP3):c.3583G>A (p.Ala1195Thr)Inborn genetic diseases [RCV004957671]uncertain significance104735729647357296Human1name
597860077CV3817229single nucleotide variantNM_002900.3(RBP3):c.3399T>G (p.Tyr1133Ter)not provided [RCV005146609]uncertain significance104735711247357112Humanname
8611935CV59491single nucleotide variantNM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn)Retinitis pigmentosa 66 [RCV000043517]|not provided [RCV001852909]pathogenic104735350847353508Human1name
21073158CV796406single nucleotide variantNM_002900.3(RBP3):c.3622G>A (p.Gly1208Arg)not provided [RCV000994382]uncertain significance104735733547357335Humanname
21405139CV800554single nucleotide variantNM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter)Cone-rod dystrophy [RCV002267760]pathogenic104735550947355509Human3name
38464622CV801421single nucleotide variantNM_002900.3(RBP3):c.3050T>A (p.Met1017Lys)Retinitis pigmentosa [RCV001199530]pathogenic104735153447351534Human2name
26913850CV836900single nucleotide variantNM_002900.3(RBP3):c.3005A>T (p.His1002Leu)not provided [RCV001036587]uncertain significance104735148947351489Humanname
26916717CV836901single nucleotide variantNM_002900.3(RBP3):c.3029G>A (p.Arg1010His)not provided [RCV001040834]uncertain significance104735151347351513Humanname
26901743CV836902single nucleotide variantNM_002900.3(RBP3):c.3157G>A (p.Gly1053Ser)Inborn genetic diseases [RCV002555873]|not provided [RCV001068846]uncertain significance104735342747353427Human1name
26885002CV836903single nucleotide variantNM_002900.3(RBP3):c.3376G>A (p.Ala1126Thr)Retinitis pigmentosa [RCV005394685]|not provided [RCV001052927]uncertain significance104735550647355506Human2name
26912887CV836904single nucleotide variantNM_002900.3(RBP3):c.3377C>T (p.Ala1126Val)not provided [RCV001034888]uncertain significance104735550747355507Humanname
26891829CV836905single nucleotide variantNM_002900.3(RBP3):c.3451G>A (p.Ala1151Thr)not provided [RCV001060955]uncertain significance104735716447357164Humanname
26888417CV836906single nucleotide variantNM_002900.3(RBP3):c.3587G>A (p.Arg1196His)Inborn genetic diseases [RCV004031811]|not provided [RCV001057426]uncertain significance104735730047357300Human1name
26921967CV836907single nucleotide variantNM_002900.3(RBP3):c.3602C>T (p.Ser1201Leu)not provided [RCV001051143]uncertain significance104735731547357315Humanname
26915425CV836908single nucleotide variantNM_002900.3(RBP3):c.3667C>T (p.Leu1223Phe)Retinitis pigmentosa [RCV001103600]|not provided [RCV001038996]uncertain significance104735738047357380Human2name
26884694CV836909single nucleotide variantNM_002900.3(RBP3):c.3719G>T (p.Ser1240Ile)not provided [RCV001052379]uncertain significance104735743247357432Humanname
26910315CV856666single nucleotide variantNM_002900.3(RBP3):c.3452C>T (p.Ala1151Val)Retinal dystrophy [RCV001074742]uncertain significance104735716547357165Human2name
26909553CV856667single nucleotide variantNM_002900.3(RBP3):c.3637C>T (p.Pro1213Ser)Retinal dystrophy [RCV001073632]|not provided [RCV001228185]conflicting interpretations of pathogenicity|uncertain significance104735735047357350Human2name
28899982CV865900single nucleotide variantNM_002900.3(RBP3):c.3382G>A (p.Val1128Ile)Retinitis pigmentosa [RCV001103603]uncertain significance104735551247355512Human2name
8633636CV88851single nucleotide variantNM_002900.2(RBP3):c.3586C>T (p.Arg1196Cys)Malignant melanoma [RCV000068946]not provided104735729947357299Humanname
38472091CV935056single nucleotide variantNM_002900.3(RBP3):c.3670G>T (p.Ala1224Ser)Inborn genetic diseases [RCV004960524]|not provided [RCV001203028]uncertain significance104735738347357383Human1name
38476448CV935057single nucleotide variantNM_002900.3(RBP3):c.3715C>T (p.Arg1239Trp)not provided [RCV001204659]uncertain significance104735742847357428Humanname
38459078CV946919single nucleotide variantNM_002900.3(RBP3):c.3091T>C (p.Phe1031Leu)not provided [RCV001229070]uncertain significance104735336147353361Humanname
38473872CV946920single nucleotide variantNM_002900.3(RBP3):c.3340C>T (p.Arg1114Trp)not provided [RCV001231983]uncertain significance104735547047355470Humanname
38465395CV946921single nucleotide variantNM_002900.3(RBP3):c.3511A>T (p.Thr1171Ser)not provided [RCV001230136]uncertain significance104735722447357224Humanname
38497262CV956075single nucleotide variantNM_002900.3(RBP3):c.3374A>G (p.His1125Arg)not provided [RCV001243064]uncertain significance104735550447355504Humanname
38499294CV956076single nucleotide variantNM_002900.3(RBP3):c.3716G>A (p.Arg1239Gln)not provided [RCV001244441]uncertain significance104735742947357429Humanname
10050712CV192345single nucleotide variantNM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr)RBP3-related disorder [RCV003947489]|Retinitis pigmentosa 66 [RCV000206994]|not provided [RCV000175739]likely benign|conflicting interpretations of pathogenicity|uncertain significance104735333247353332Human1alternate_id
151737187CV1469384single nucleotide variantNM_002900.3(RBP3):c.3637C>A (p.Pro1213Thr)not provided [RCV002041846]uncertain significance104735735047357350Humanname
156367836CV2160126single nucleotide variantNM_002900.3(RBP3):c.3224A>G (p.Asp1075Gly)not provided [RCV003032007]uncertain significance104735349447353494Humanname