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201 records found for search term Rps24
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
151355165CV1328232single nucleotide variantNM_033022.4(RPS24):c.-4C>TRPS24-related disorder [RCV003948744]|not specified [RCV001820237]likely benign|uncertain significance107803389878033898Human1name , trait , alternate_id
401938445CV2809414single nucleotide variantNM_033022.4(RPS24):c.-5C>Tnot provided [RCV003417542]likely benign107803389778033897Humanname
11665966CV322683single nucleotide variantNM_033022.4(RPS24):c.-8T>GDiamond-Blackfan anemia 3 [RCV001103178]|Diamond-Blackfan anemia [RCV000305511]|POLR-related leukodystrophy [RCV000329929]|not provided [RCV002286729]|not specified [RCV000500183]benign|likely benign107803389478033894Human4name
597717107CV3726518single nucleotide variantNM_033022.4(RPS24):c.-8T>ADiamond-Blackfan anemia 3 [RCV005049289]uncertain significance107803389478033894Human1name
597656167CV3726519single nucleotide variantNM_033022.4(RPS24):c.-4C>GDiamond-Blackfan anemia 3 [RCV005041632]uncertain significance107803389878033898Human1name
28898931CV866352single nucleotide variantNM_033022.4(RPS24):c.-7C>ADiamond-Blackfan anemia 3 [RCV001103179]benign107803389578033895Human1name
156373503CV1932910single nucleotide variantNM_033022.4(RPS24):c.3+7C>GDiamond-Blackfan anemia [RCV002633619]likely benign107803391178033911Human2name
156441746CV1941399single nucleotide variantNM_033022.4(RPS24):c.4-3C>TDiamond-Blackfan anemia 3 [RCV005047416]|Diamond-Blackfan anemia [RCV003112078]uncertain significance107803534978035349Human3name
11607191CV311240single nucleotide variantNM_033022.3(RPS24):c.-50G>ADiamond-Blackfan anemia 3 [RCV000340639]|not specified [RCV000615848]likely benign107803385278033852Human1name
11611894CV322682single nucleotide variantNM_033022.4(RPS24):c.-36T>GDiamond-Blackfan anemia 3 [RCV000400663]benign|likely benign107803386678033866Human1name
11600708CV322696single nucleotide variantNM_033022.4(RPS24):c.*21C>TDiamond-Blackfan anemia 3 [RCV000276044]|RPS24-related disorder [RCV003930271]|not provided [RCV003417979]benign|likely benign107804061678040616Human1name , trait , alternate_id
11606018CV323403single nucleotide variantNM_033022.4(RPS24):c.*99T>CDiamond-Blackfan anemia 3 [RCV000326342]|not provided [RCV004718325]benign|likely benign107804069478040694Human1name
597863618CV3800460single nucleotide variantNM_033022.4(RPS24):c.4-3C>GDiamond-Blackfan anemia [RCV005137552]uncertain significance107803534978035349Human2name
598128350CV3887554single nucleotide variantNM_033022.4(RPS24):c.*22G>Anot provided [RCV005243727]likely benign107804061778040617Humanname
13213716CV429131single nucleotide variantNM_033022.4(RPS24):c.*11G>ADiamond-Blackfan anemia 3 [RCV002481627]|not provided [RCV001595011]|not specified [RCV000500351]likely benign107804021778040217Human1name
15125340CV685276single nucleotide variantNM_033022.4(RPS24):c.3+7C>TDiamond-Blackfan anemia 3 [RCV001105092]|Diamond-Blackfan anemia [RCV002064457]likely benign|uncertain significance107803391178033911Human3name
15120381CV695487single nucleotide variantNM_033022.4(RPS24):c.3+9C>TDiamond-Blackfan anemia [RCV003768677]likely benign107803391378033913Human2name
28898918CV866348single nucleotide variantNM_033022.3(RPS24):c.-47T>GDiamond-Blackfan anemia 3 [RCV001103174]uncertain significance107803385578033855Human1name
28898920CV866349single nucleotide variantNM_033022.4(RPS24):c.-37C>TDiamond-Blackfan anemia 3 [RCV001103175]likely benign107803386578033865Human1name
28898924CV866350single nucleotide variantNM_033022.4(RPS24):c.-32C>TDiamond-Blackfan anemia 3 [RCV001103176]benign107803387078033870Human1name
28898926CV866351single nucleotide variantNM_033022.4(RPS24):c.-23C>TDiamond-Blackfan anemia 3 [RCV001103177]likely benign107803387978033879Human1name
28903362CV868513single nucleotide variantNM_033022.4(RPS24):c.4-7T>CDiamond-Blackfan anemia 3 [RCV001105094]uncertain significance107803534578035345Human1name
151349300CV1170259single nucleotide variantNM_033022.4(RPS24):c.69+1G>TAbnormality of blood and blood-forming tissues [RCV001814508]likely pathogenic107803541878035418Human1name
151233756CV1318592single nucleotide variantNM_033022.4(RPS24):c.3+26C>TDiamond-Blackfan anemia 3 [RCV001794920]|not provided [RCV004718974]benign107803393078033930Human1name
152027685CV1529536single nucleotide variantNM_033022.4(RPS24):c.4-20C>GDiamond-Blackfan anemia [RCV002185584]likely benign107803533278035332Human2name
152083299CV1569431single nucleotide variantNM_033022.4(RPS24):c.3+17C>TDiamond-Blackfan anemia [RCV002113051]likely benign107803392178033921Human2name
155912040CV2029456single nucleotide variantNM_033022.4(RPS24):c.3+16C>TDiamond-Blackfan anemia [RCV002750214]likely benign107803392078033920Human2name
402496265CV2875381single nucleotide variantNM_033022.4(RPS24):c.4-16G>CDiamond-Blackfan anemia [RCV003508218]likely benign107803533678035336Human2name
405113883CV2950127single nucleotide variantNM_033022.4(RPS24):c.4-11T>CDiamond-Blackfan anemia [RCV003616092]likely benign107803534178035341Human2name
405115819CV2988255single nucleotide variantNM_033022.4(RPS24):c.3+20T>ADiamond-Blackfan anemia [RCV003616392]likely benign107803392478033924Human2name
405122559CV3056369single nucleotide variantNM_033022.4(RPS24):c.3+14G>CDiamond-Blackfan anemia [RCV003617244]likely benign107803391878033918Human2name
11662305CV322670single nucleotide variantNM_033022.3(RPS24):c.-142A>GDiamond-Blackfan anemia 3 [RCV000384671]uncertain significance107803376078033760Human1name
11665483CV322671single nucleotide variantNM_033022.3(RPS24):c.-109A>GDiamond-Blackfan anemia 3 [RCV001108353]|Diamond-Blackfan anemia [RCV000290077]|POLR-related leukodystrophy [RCV000274775]|not provided [RCV004718323]benign107803379378033793Human4name
597909601CV3839941single nucleotide variantNM_033022.4(RPS24):c.3+12T>CDiamond-Blackfan anemia [RCV005184680]likely benign107803391678033916Human2name
28903360CV868512single nucleotide variantNM_033022.4(RPS24):c.3+15G>ADiamond-Blackfan anemia 3 [RCV001105093]likely benign107803391978033919Human1name
127242524CV1099190single nucleotide variantNM_033022.4(RPS24):c.69+10G>ADiamond-Blackfan anemia [RCV001423754]likely benign107803542778035427Human2name
150482994CV1210059single nucleotide variantNM_033022.4(RPS24):c.4-289G>Anot provided [RCV001590758]likely benign107803506378035063Humanname
150459585CV1248689single nucleotide variantNM_033022.4(RPS24):c.3+215C>Tnot provided [RCV001669299]benign107803411978034119Humanname
150442725CV1264482single nucleotide variantNM_033022.4(RPS24):c.3+220C>Tnot provided [RCV001679465]benign107803412478034124Humanname
151819491CV1375377duplicationNM_033022.4(RPS24):c.390+3dupDiamond-Blackfan anemia [RCV001960310]uncertain significance107803730678037307Human2name
151713838CV1398254duplicationNM_033022.4(RPS24):c.279+2dupDiamond-Blackfan anemia [RCV002013342]uncertain significance107803572178035722Human2name
155686197CV1853393single nucleotide variantNM_033022.4(RPS24):c.279+5G>TDiamond-Blackfan anemia [RCV002441408]likely pathogenic107803572578035725Human2name
156379394CV1927400single nucleotide variantNM_033022.4(RPS24):c.69+17C>TDiamond-Blackfan anemia [RCV002634144]likely benign107803543478035434Human2name
156047419CV2030942single nucleotide variantNM_033022.4(RPS24):c.280-6A>GDiamond-Blackfan anemia [RCV002736397]likely benign107803718878037188Human2name
156329122CV2065053duplicationNM_033022.4(RPS24):c.391-4dupDiamond-Blackfan anemia [RCV002835191]likely benign107804019878040199Human2name
156390256CV2122410single nucleotide variantNM_033022.4(RPS24):c.391-6A>GDiamond-Blackfan anemia [RCV002943825]likely benign107804019878040198Human2name
402475508CV2850919single nucleotide variantNM_033022.4(RPS24):c.390+4T>CDiamond-Blackfan anemia 3 [RCV003486224]|Diamond-Blackfan anemia [RCV003779254]uncertain significance107803730878037308Human3name
402498961CV2885100single nucleotide variantNM_033022.4(RPS24):c.70-14A>GDiamond-Blackfan anemia [RCV003508503]likely benign107803549778035497Human2name
402498540CV2887551single nucleotide variantNM_033022.4(RPS24):c.69+11G>ADiamond-Blackfan anemia [RCV003508459]likely benign107803542878035428Human2name
405119300CV3007407single nucleotide variantNM_033022.4(RPS24):c.70-15G>TDiamond-Blackfan anemia [RCV003616834]likely benign107803549678035496Human2name
405122471CV3046009single nucleotide variantNM_033022.4(RPS24):c.280-6A>CDiamond-Blackfan anemia [RCV003617230]likely benign107803718878037188Human2name
405122090CV3051420single nucleotide variantNM_033022.4(RPS24):c.390+9C>TDiamond-Blackfan anemia [RCV003617181]likely benign107803731378037313Human2name
11609631CV311253single nucleotide variantNM_033022.4(RPS24):c.391-3C>ADiamond-Blackfan anemia 3 [RCV001093998]|Diamond-Blackfan anemia [RCV000371000]|RPS24-related disorder [RCV003967864]|not provided [RCV004718324]|not specified [RCV000506772]benign107804020178040201Human4name , trait , alternate_id
408378324CV3512035single nucleotide variantNM_033022.4(RPS24):c.279+4G>CRPS24-related disorder [RCV004752215]likely benign107803572478035724Humanname , trait , alternate_id
15200458CV775553single nucleotide variantNM_033022.4(RPS24):c.70-10C>TDiamond-Blackfan anemia [RCV001398006]likely benign107803550178035501Human2name
150414031CV1191104single nucleotide variantNM_033022.4(RPS24):c.*19+60T>Cnot provided [RCV001567387]likely benign107804028578040285Humanname
150471175CV1209493single nucleotide variantNM_033022.4(RPS24):c.280-52G>Anot provided [RCV001588604]likely benign107803714278037142Humanname
152072369CV1552309single nucleotide variantNM_033022.4(RPS24):c.390+14A>GDiamond-Blackfan anemia [RCV002148256]likely benign107803731878037318Human2name
152096826CV1623487single nucleotide variantNM_033022.4(RPS24):c.391-14C>TDiamond-Blackfan anemia [RCV002213471]likely benign107804019078040190Human2name
156028052CV1893381single nucleotide variantNM_033022.4(RPS24):c.280-19G>TDiamond-Blackfan anemia [RCV003077966]likely benign107803717578037175Human2name
156089301CV2017475single nucleotide variantNM_033022.4(RPS24):c.279+17T>ADiamond-Blackfan anemia [RCV002694885]likely benign107803573778035737Human2name
402497827CV2869052single nucleotide variantNM_033022.4(RPS24):c.391-11C>TDiamond-Blackfan anemia [RCV003508331]likely benign107804019378040193Human2name
405113197CV2943988single nucleotide variantNM_033022.4(RPS24):c.280-14C>GDiamond-Blackfan anemia [RCV003615997]likely benign107803718078037180Human2name
405120073CV3023287single nucleotide variantNM_033022.4(RPS24):c.390+13A>CDiamond-Blackfan anemia [RCV003616933]likely benign107803731778037317Human2name
597841595CV3783505single nucleotide variantNM_033022.4(RPS24):c.280-17A>CDiamond-Blackfan anemia [RCV005116193]likely benign107803717778037177Human2name
597907623CV3829944single nucleotide variantNM_033022.4(RPS24):c.279+18T>ADiamond-Blackfan anemia [RCV005182513]likely benign107803573878035738Human2name
150411838CV1177352single nucleotide variantNM_001142285.2(RPS24):c.*100C>Tnot provided [RCV001547316]likely benign107805511078055110Humanname
150417679CV1194386single nucleotide variantNM_033022.4(RPS24):c.390+465C>Tnot provided [RCV001568874]likely benign107803776978037769Humanname
150412001CV1198083single nucleotide variantNM_033022.4(RPS24):c.390+967G>Anot provided [RCV001574216]likely benign107803827178038271Humanname
150412459CV1198084single nucleotide variantNM_033022.4(RPS24):c.391-243C>Tnot provided [RCV001574360]likely benign107803996178039961Humanname
150453214CV1205619single nucleotide variantNM_001142285.2(RPS24):c.*205C>Tnot provided [RCV001585520]likely benign107805521578055215Humanname
150490535CV1210215single nucleotide variantNM_033022.4(RPS24):c.280-276C>Tnot provided [RCV001592497]likely benign107803691878036918Humanname
150433583CV1216958single nucleotide variantNM_033022.4(RPS24):c.390+622G>Tnot provided [RCV001608860]benign107803792678037926Humanname
150498298CV1224114single nucleotide variantNM_033022.4(RPS24):c.280-226G>Cnot provided [RCV001620226]benign107803696878036968Humanname
150476894CV1251933single nucleotide variantNM_033022.4(RPS24):c.280-149C>Tnot provided [RCV001672132]benign107803704578037045Humanname
150464647CV1252735single nucleotide variantNM_033022.4(RPS24):c.390+628C>Tnot provided [RCV001670059]benign107803793278037932Humanname
150455013CV1261082single nucleotide variantNM_033022.4(RPS24):c.279+102T>Gnot provided [RCV001681280]benign107803582278035822Humanname
150491741CV1280578single nucleotide variantNM_033022.4(RPS24):c.280-271A>Tnot provided [RCV001716691]benign107803692378036923Humanname
151750763CV1335586single nucleotide variantNM_033022.4(RPS24):c.390+436T>Gnot provided [RCV001847428]likely benign107803774078037740Humanname
14696513CV622106single nucleotide variantNM_001142285.2(RPS24):c.391-2A>Tnot provided [RCV000782198]uncertain significance107805452978054529Humanname
150457089CV1269162microsatelliteNM_033022.4(RPS24):c.390+629CT[2]not provided [RCV001692986]benign107803793378037934Humanname
150419230CV1198085single nucleotide variantNM_001142285.2(RPS24):c.391-271G>Anot provided [RCV001577081]likely benign107805426078054260Humanname
13215487CV429129single nucleotide variantNM_033022.4(RPS24):c.6C>T (p.Asn2=)Diamond-Blackfan anemia [RCV000530352]|not specified [RCV000502571]likely benign107803535478035354Human2name
127293337CV1120761single nucleotide variantNM_033022.4(RPS24):c.21C>T (p.Ile7=)Diamond-Blackfan anemia 3 [RCV005050380]|Diamond-Blackfan anemia [RCV001451962]likely benign|uncertain significance107803536978035369Human3name
405122772CV3067376single nucleotide variantNM_033022.4(RPS24):c.21C>A (p.Ile7=)Diamond-Blackfan anemia [RCV003617271]likely benign107803536978035369Human2name
15161866CV687674single nucleotide variantNM_033022.4(RPS24):c.12C>T (p.Thr4=)Diamond-Blackfan anemia [RCV001397895]likely benign107803536078035360Human2name
127304688CV1120762single nucleotide variantNM_033022.4(RPS24):c.90C>T (p.Pro30=)Diamond-Blackfan anemia [RCV001455032]likely benign107803553178035531Human2name
151356334CV1329098single nucleotide variantNM_033022.4(RPS24):c.49C>T (p.Leu17=)not specified [RCV001822687]uncertain significance107803539778035397Humanname
151793535CV1399282single nucleotide variantNM_033022.4(RPS24):c.7G>A (p.Asp3Asn)Diamond-Blackfan anemia [RCV001908594]uncertain significance107803535578035355Human2name
152160560CV1530811deletionNM_033022.4(RPS24):c.279+20_279+27delDiamond-Blackfan anemia [RCV002123113]likely benign107803573978035746Human2name
152059969CV1559121single nucleotide variantNM_033022.4(RPS24):c.99G>A (p.Ala33=)Diamond-Blackfan anemia [RCV002167881]likely benign107803554078035540Human2name
152040488CV1644607single nucleotide variantNM_033022.4(RPS24):c.60G>A (p.Arg20=)Diamond-Blackfan anemia [RCV002165616]likely benign107803540878035408Human2name
153345619CV1691205single nucleotide variantNM_033022.4(RPS24):c.3G>A (p.Met1Ile)Diamond-Blackfan anemia 3 [RCV002272686]uncertain significance107803390478033904Human1name
155667101CV1855943single nucleotide variantNM_033022.4(RPS24):c.2T>C (p.Met1Thr)Diamond-Blackfan anemia [RCV002435644]pathogenic107803390378033903Human2name
156400439CV1981811single nucleotide variantNM_033022.4(RPS24):c.81C>A (p.Val27=)Diamond-Blackfan anemia [RCV002605550]likely benign107803552278035522Human2name
11560092CV259941single nucleotide variantNM_033022.4(RPS24):c.1A>G (p.Met1Val)Diamond-Blackfan anemia [RCV000551919]|not provided [RCV000255670]pathogenic|likely pathogenic107803390278033902Human2name
405113190CV2943984deletionNM_033022.4(RPS24):c.279+14_279+18delDiamond-Blackfan anemia [RCV003615996]likely benign107803573178035735Human2name
11659199CV323402deletionNM_033022.4(RPS24):c.280-11_280-10delDiamond-Blackfan anemia [RCV000355886]conflicting interpretations of pathogenicity|uncertain significance107803718178037182Human2name
127262388CV1099191single nucleotide variantNM_033022.4(RPS24):c.276A>T (p.Ala92=)Diamond-Blackfan anemia [RCV001438935]likely benign107803571778035717Human2name
151805186CV1474523single nucleotide variantNM_033022.4(RPS24):c.23G>A (p.Arg8His)Diamond-Blackfan anemia 3 [RCV005042512]|Diamond-Blackfan anemia [RCV001930702]uncertain significance107803537178035371Human3name
152094831CV1533861single nucleotide variantNM_033022.4(RPS24):c.156G>T (p.Pro52=)Diamond-Blackfan anemia [RCV002151060]likely benign107803559778035597Human2name
152125450CV1580840single nucleotide variantNM_033022.4(RPS24):c.234C>T (p.Ser78=)Diamond-Blackfan anemia [RCV002082150]likely benign107803567578035675Human2name
152030610CV1660673single nucleotide variantNM_033022.4(RPS24):c.264A>G (p.Lys88=)Diamond-Blackfan anemia [RCV002105964]likely benign107803570578035705Human2name
156200419CV1928955single nucleotide variantNM_033022.4(RPS24):c.277A>C (p.Arg93=)Diamond-Blackfan anemia [RCV002643614]likely benign107803571878035718Human2name
405122043CV3054750single nucleotide variantNM_033022.4(RPS24):c.255T>C (p.Asn85=)Diamond-Blackfan anemia [RCV003617175]likely benign107803569678035696Human2name
405110802CV3061183single nucleotide variantNM_033022.4(RPS24):c.171A>T (p.Val57=)Diamond-Blackfan anemia [RCV003615545]likely benign107803561278035612Human2name
405206178CV3161947single nucleotide variantNM_033022.4(RPS24):c.156G>A (p.Pro52=)Diamond-Blackfan anemia [RCV003861441]likely benign107803559778035597Human2name
11603549CV316666single nucleotide variantNM_033022.4(RPS24):c.235C>T (p.Leu79=)Diamond-Blackfan anemia 3 [RCV001093982]|Diamond-Blackfan anemia [RCV000300971]|RPS24-related disorder [RCV003910099]|not specified [RCV001820876]benign|likely benign107803567678035676Human4name , trait , alternate_id
11611888CV322688single nucleotide variantNM_033022.4(RPS24):c.177A>G (p.Gly59=)Diamond-Blackfan anemia 3 [RCV001093981]|Diamond-Blackfan anemia [RCV000400995]|RPS24-related disorder [RCV003897685]|not provided [RCV001705447]benign|likely benign|conflicting interpretations of pathogenicity107803561878035618Human4name , trait , alternate_id
11607285CV323397single nucleotide variantNM_033022.4(RPS24):c.168T>C (p.Phe56=)Diamond-Blackfan anemia 3 [RCV001093980]|Diamond-Blackfan anemia [RCV000341734]|not provided [RCV003417978]|not specified [RCV001820875]benign|likely benign107803560978035609Human3name
597656222CV3726520single nucleotide variantNM_033022.4(RPS24):c.11C>T (p.Thr4Ile)Diamond-Blackfan anemia 3 [RCV005041638]uncertain significance107803535978035359Human1name
597960835CV3756309single nucleotide variantNM_033022.4(RPS24):c.11C>A (p.Thr4Asn)Diamond-Blackfan anemia [RCV005081626]uncertain significance107803535978035359Human2name
13216424CV429130single nucleotide variantNM_033022.4(RPS24):c.189T>C (p.His63=)Diamond-Blackfan anemia [RCV000638829]|RPS24-related disorder [RCV003902793]|not specified [RCV000503744]likely benign|uncertain significance107803563078035630Human4name , trait , alternate_id
13487609CV444660single nucleotide variantNM_033022.4(RPS24):c.20T>G (p.Ile7Ser)Diamond-Blackfan anemia [RCV003615846]|not provided [RCV000523287]uncertain significance107803536878035368Human2name
15116977CV692890single nucleotide variantNM_033022.4(RPS24):c.165C>T (p.Ile55=)Diamond-Blackfan anemia [RCV001422833]likely benign107803560678035606Human2name
15118257CV692891single nucleotide variantNM_033022.4(RPS24):c.246A>C (p.Ala82=)Diamond-Blackfan anemia [RCV002539171]likely benign107803568778035687Human2name
15141173CV783751single nucleotide variantNM_033022.4(RPS24):c.297G>A (p.Lys99=)Diamond-Blackfan anemia [RCV001490188]likely benign107803721178037211Human2name
126735853CV1009213single nucleotide variantNM_033022.4(RPS24):c.82C>G (p.Leu28Val)Diamond-Blackfan anemia [RCV001324577]|not provided [RCV001797171]uncertain significance107803552378035523Human2name
127231371CV1077528single nucleotide variantNM_033022.4(RPS24):c.324G>A (p.Lys108=)Diamond-Blackfan anemia [RCV001413077]likely benign107803723878037238Human2name
127328362CV1151155deletionNM_033022.4(RPS24):c.157del (p.Asp53fs)Diamond-Blackfan anemia 3 [RCV001507086]likely pathogenic107803559778035597Human1name
127293103CV1156486single nucleotide variantNM_033022.4(RPS24):c.306C>T (p.Thr102=)Diamond-Blackfan anemia 3 [RCV002476812]|Diamond-Blackfan anemia [RCV001511170]benign|likely benign107803722078037220Human3name
151235950CV1319378single nucleotide variantNM_033022.4(RPS24):c.82C>T (p.Leu28Phe)Diamond-Blackfan anemia [RCV003615880]|not provided [RCV001797323]uncertain significance107803552378035523Human2name
151712079CV1455235single nucleotide variantNM_033022.4(RPS24):c.47G>C (p.Arg16Pro)Diamond-Blackfan anemia [RCV002005693]uncertain significance107803539578035395Human2name
156118003CV1877538single nucleotide variantNM_033022.4(RPS24):c.384C>G (p.Gly128=)Diamond-Blackfan anemia [RCV003081316]likely benign107803729878037298Human2name
156003766CV2064627single nucleotide variantNM_033022.4(RPS24):c.47G>T (p.Arg16Leu)Diamond-Blackfan anemia [RCV002843531]uncertain significance107803539578035395Human2name
155947605CV2108162single nucleotide variantNM_033022.4(RPS24):c.372T>C (p.Asn124=)Diamond-Blackfan anemia [RCV002904867]likely benign107803728678037286Human2name
8559780CV22285single nucleotide variantNM_033022.4(RPS24):c.46C>T (p.Arg16Ter)Diamond-Blackfan anemia 3 [RCV000007668]|Diamond-Blackfan anemia [RCV000638824]|not provided [RCV004595876]pathogenic107803539478035394Human3name
329954544CV2669543deletionNM_033022.4(RPS24):c.273del (p.Ala92fs)Diamond-Blackfan anemia 3 [RCV003232044]likely pathogenic107803571378035713Human1name
402492023CV2931087single nucleotide variantNM_033022.4(RPS24):c.348A>G (p.Lys116=)Diamond-Blackfan anemia 3 [RCV005392647]|Diamond-Blackfan anemia [RCV003507739]uncertain significance107803726278037262Human3name
405118167CV3011630single nucleotide variantNM_033022.4(RPS24):c.97G>T (p.Ala33Ser)Diamond-Blackfan anemia [RCV003616691]uncertain significance107803553878035538Human2name
405226083CV3142468single nucleotide variantNM_033022.4(RPS24):c.366G>A (p.Lys122=)Diamond-Blackfan anemia [RCV003848007]likely benign107803728078037280Human2name
11600629CV322695single nucleotide variantNM_033022.4(RPS24):c.333G>A (p.Lys111=)Diamond-Blackfan anemia 3 [RCV000275227]|Diamond-Blackfan anemia [RCV001479472]likely benign|uncertain significance107803724778037247Human3name
597850802CV3785363single nucleotide variantNM_033022.4(RPS24):c.38T>G (p.Met13Arg)Diamond-Blackfan anemia [RCV005125949]uncertain significance107803538678035386Human2name
598125211CV3881498single nucleotide variantNM_033022.4(RPS24):c.64C>T (p.Gln22Ter)not provided [RCV005232404]likely pathogenic107803541278035412Humanname
12882032CV397422single nucleotide variantNM_033022.4(RPS24):c.363A>G (p.Ala121=)Diamond-Blackfan anemia 3 [RCV002489129]|Diamond-Blackfan anemia [RCV000458897]|RPS24-related disorder [RCV003960100]benign107803727778037277Human4name , trait , alternate_id
14713456CV639181single nucleotide variantNM_033022.4(RPS24):c.91G>A (p.Gly31Arg)Diamond-Blackfan anemia 3 [RCV002501145]|Diamond-Blackfan anemia [RCV000823564]uncertain significance107803553278035532Human3name
15117068CV684197single nucleotide variantNM_033022.4(RPS24):c.378T>G (p.Gly126=)Diamond-Blackfan anemia 3 [RCV002495215]|Diamond-Blackfan anemia [RCV000861061]benign|likely benign107803729278037292Human3name
126727338CV1009214single nucleotide variantNM_033022.4(RPS24):c.122G>A (p.Arg41Gln)Diamond-Blackfan anemia 3 [RCV005040166]|Diamond-Blackfan anemia [RCV001312251]uncertain significance107803556378035563Human3name
150336750CV1165955single nucleotide variantNM_033022.4(RPS24):c.262A>G (p.Lys88Glu)not provided [RCV001532126]uncertain significance107803570378035703Humanname
150551950CV1300781single nucleotide variantNM_033022.4(RPS24):c.174T>G (p.Phe58Leu)not provided [RCV001754641]uncertain significance107803561578035615Humanname
155803910CV1858478single nucleotide variantNM_033022.4(RPS24):c.178T>A (p.Phe60Ile)not provided [RCV002462788]uncertain significance107803561978035619Humanname
156280189CV2042773single nucleotide variantNM_033022.4(RPS24):c.275C>A (p.Ala92Glu)Diamond-Blackfan anemia [RCV002770356]uncertain significance107803571678035716Human2name
156161447CV2074302single nucleotide variantNM_033022.4(RPS24):c.155C>A (p.Pro52Gln)Diamond-Blackfan anemia [RCV002851225]uncertain significance107803559678035596Human2name
156206105CV2092727single nucleotide variantNM_033022.4(RPS24):c.278G>A (p.Arg93Lys)Diamond-Blackfan anemia [RCV002917973]uncertain significance107803571978035719Human2name
243060235CV2410729single nucleotide variantNM_033022.4(RPS24):c.149C>G (p.Thr50Ser)Diamond-Blackfan anemia 3 [RCV003135803]uncertain significance107803559078035590Human1name
401855219CV2752819single nucleotide variantNM_033022.4(RPS24):c.155C>T (p.Pro52Leu)Diamond-Blackfan anemia 3 [RCV003337873]uncertain significance107803559678035596Human1name
402490851CV2858627single nucleotide variantNM_033022.4(RPS24):c.292G>T (p.Glu98Ter)Diamond-Blackfan anemia [RCV003507638]pathogenic107803720678037206Human2name
402498282CV2870120single nucleotide variantNM_033022.4(RPS24):c.280C>T (p.His94Tyr)Diamond-Blackfan anemia [RCV003508431]uncertain significance107803719478037194Human2name
402500149CV2882700single nucleotide variantNM_033022.4(RPS24):c.240T>G (p.Asp80Glu)Diamond-Blackfan anemia [RCV003508627]uncertain significance107803568178035681Human2name
402484021CV2906685single nucleotide variantNM_033022.4(RPS24):c.160G>A (p.Val54Ile)Diamond-Blackfan anemia [RCV003506794]uncertain significance107803560178035601Human2name
402485749CV2912834single nucleotide variantNM_033022.4(RPS24):c.172T>C (p.Phe58Leu)Diamond-Blackfan anemia [RCV003506961]uncertain significance107803561378035613Human2name
402487870CV2924557single nucleotide variantNM_033022.4(RPS24):c.158A>T (p.Asp53Val)Diamond-Blackfan anemia [RCV003507191]uncertain significance107803559978035599Human2name
405121285CV3036890single nucleotide variantNM_033022.4(RPS24):c.271C>G (p.Leu91Val)Diamond-Blackfan anemia [RCV003617083]uncertain significance107803571278035712Human2name
405122746CV3067187single nucleotide variantNM_033022.4(RPS24):c.297G>C (p.Lys99Asn)Diamond-Blackfan anemia [RCV003617268]uncertain significance107803721178037211Human2name
408391634CV3523289single nucleotide variantNM_033022.4(RPS24):c.269G>C (p.Arg90Thr)not provided [RCV004770662]uncertain significance107803571078035710Humanname
597656321CV3726521single nucleotide variantNM_033022.4(RPS24):c.220A>G (p.Met74Val)Diamond-Blackfan anemia 3 [RCV005041650]uncertain significance107803566178035661Human1name
597656371CV3726522single nucleotide variantNM_033022.4(RPS24):c.248A>G (p.Lys83Arg)Diamond-Blackfan anemia 3 [RCV005041656]uncertain significance107803568978035689Human1name
597656416CV3726523single nucleotide variantNM_033022.4(RPS24):c.260C>T (p.Pro87Leu)Diamond-Blackfan anemia 3 [RCV005041661]uncertain significance107803570178035701Human1name
597903700CV3834142single nucleotide variantNM_033022.4(RPS24):c.121C>T (p.Arg41Trp)Diamond-Blackfan anemia [RCV005178461]uncertain significance107803556278035562Human2name
598126283CV3886180single nucleotide variantNM_033022.4(RPS24):c.100A>G (p.Thr34Ala)not provided [RCV005241983]uncertain significance107803554178035541Humanname
13705916CV540530single nucleotide variantNM_033022.4(RPS24):c.148A>C (p.Thr50Pro)Diamond-Blackfan anemia 3 [RCV000664315]pathogenic107803558978035589Human1name
14712415CV639180deletionNM_033022.4(RPS24):c.13_14del (p.Val5fs)Diamond-Blackfan anemia [RCV000820617]pathogenic107803536178035362Human2name
155726173CV1811876deletionNM_033022.4(RPS24):c.66_67del (p.Gln22fs)Diamond-Blackfan anemia [RCV002364567]pathogenic107803541378035414Human2name
156033141CV1932496single nucleotide variantNM_033022.4(RPS24):c.320G>A (p.Arg107Gln)Diamond-Blackfan anemia [RCV002637254]uncertain significance107803723478037234Human2name
8559779CV22284single nucleotide variantNM_033022.4(RPS24):c.316C>T (p.Gln106Ter)Diamond-Blackfan anemia 3 [RCV000007667]pathogenic107803723078037230Human1name
11350485CV240848single nucleotide variantNM_033022.4(RPS24):c.371A>G (p.Asn124Ser)Diamond-Blackfan anemia 3 [RCV001093983]|Diamond-Blackfan anemia [RCV000229998]|RPS24-related disorder [RCV003977688]|not specified [RCV001820770]benign|likely benign107803728578037285Human4name , trait , alternate_id
597656987CV3726524single nucleotide variantNM_033022.4(RPS24):c.350T>C (p.Val117Ala)Diamond-Blackfan anemia 3 [RCV005041667]uncertain significance107803726478037264Human1name
8626856CV82000single nucleotide variantNM_001142284.1(RPS24):c.249G>A (p.Lys83=)Malignant melanoma [RCV000062079]not provided107803569078035690Humanname
405271923CV3201595single nucleotide variantNM_001142285.2(RPS24):c.468G>A (p.Ser156=)RPS24-related disorder [RCV003899506]likely benign107805460878054608Humanname , trait , alternate_id
405277962CV3212589single nucleotide variantNM_001142285.2(RPS24):c.624G>A (p.Ala208=)RPS24-related disorder [RCV003959156]likely benign107805476478054764Humanname , trait , alternate_id
596939889CV3550667single nucleotide variantNM_001142285.2(RPS24):c.660C>T (p.Ala220=)not provided [RCV004814567]uncertain significance107805480078054800Humanname
126910184CV1037988single nucleotide variantNM_001142285.2(RPS24):c.526G>A (p.Val176Met)Diamond-Blackfan anemia 3 [RCV002504571]|not provided [RCV001354430]uncertain significance107805466678054666Human1name
151232588CV1317606single nucleotide variantNM_001142285.2(RPS24):c.799C>G (p.Pro267Ala)Diamond-Blackfan anemia 3 [RCV001788986]uncertain significance107805493978054939Human1name
155794638CV1857800single nucleotide variantNM_001142285.2(RPS24):c.634G>A (p.Glu212Lys)not provided [RCV002461650]uncertain significance107805477478054774Humanname
329351436CV2478062single nucleotide variantNM_001142285.2(RPS24):c.484C>T (p.Arg162Trp)Diamond-Blackfan anemia 3 [RCV003224728]likely benign107805462478054624Human1name
401903253CV2797829single nucleotide variantNM_001142285.2(RPS24):c.814C>T (p.His272Tyr)RPS24-related disorder [RCV003410723]uncertain significance107805495478054954Humanname , trait , alternate_id
401902783CV2799343single nucleotide variantNM_001142285.2(RPS24):c.835T>G (p.Ser279Ala)RPS24-related disorder [RCV003400459]uncertain significance107805497578054975Humanname , trait , alternate_id
401904215CV2799752single nucleotide variantNM_001142285.2(RPS24):c.734C>T (p.Pro245Leu)RPS24-related disorder [RCV003419123]uncertain significance107805487478054874Humanname , trait , alternate_id
401903394CV2802788single nucleotide variantNM_001142285.2(RPS24):c.428G>A (p.Arg143Lys)RPS24-related disorder [RCV003412150]uncertain significance107805456878054568Humanname , trait , alternate_id
401902454CV2803573single nucleotide variantNM_001142285.2(RPS24):c.629T>C (p.Leu210Pro)RPS24-related disorder [RCV003391432]uncertain significance107805476978054769Humanname , trait , alternate_id
405270129CV3185647single nucleotide variantNM_001142285.2(RPS24):c.668C>T (p.Ser223Leu)RPS24-related disorder [RCV003949096]|not provided [RCV003886211]likely benign107805480878054808Human1name , trait , alternate_id
408379890CV3512520single nucleotide variantNM_001142285.2(RPS24):c.422T>C (p.Leu141Ser)RPS24-related disorder [RCV004752247]uncertain significance107805456278054562Humanname , trait , alternate_id
408379896CV3516676single nucleotide variantNM_001142285.2(RPS24):c.803T>C (p.Phe268Ser)RPS24-related disorder [RCV004752465]uncertain significance107805494378054943Humanname , trait , alternate_id
408380707CV3519381single nucleotide variantNM_001142285.2(RPS24):c.625T>A (p.Cys209Ser)not provided [RCV004762690]uncertain significance107805476578054765Humanname
408381916CV3526643single nucleotide variantNM_001142285.2(RPS24):c.838C>G (p.Pro280Ala)not provided [RCV004771956]uncertain significance107805497878054978Humanname
597707000CV3726525single nucleotide variantNM_001142285.2(RPS24):c.698C>T (p.Pro233Leu)Diamond-Blackfan anemia 3 [RCV005041673]uncertain significance107805483878054838Human1name
597707021CV3726527single nucleotide variantNM_001142285.2(RPS24):c.712G>A (p.Gly238Ser)Diamond-Blackfan anemia 3 [RCV005041684]uncertain significance107805485278054852Human1name
597841700CV3735392single nucleotide variantNM_001142285.2(RPS24):c.655G>A (p.Gly219Arg)Diamond-Blackfan anemia 3 [RCV005055309]uncertain significance107805479578054795Human1name
14349860CV590785single nucleotide variantNM_001142285.2(RPS24):c.472G>T (p.Ala158Ser)not specified [RCV000736103]likely benign107805461278054612Humanname
14696514CV622107single nucleotide variantNM_001142285.2(RPS24):c.820G>T (p.Glu274Ter)not provided [RCV000782199]uncertain significance107805496078054960Humanname
40888218CV961957single nucleotide variantNM_001142285.2(RPS24):c.828C>A (p.Ser276Arg)Diamond-Blackfan anemia 3 [RCV001267791]likely benign107805496878054968Human1name
42723017CV985273single nucleotide variantNM_001142285.2(RPS24):c.409G>A (p.Gly137Arg)Diamond-Blackfan anemia 3 [RCV001293006]uncertain significance107805454978054549Human1name
42722838CV985274single nucleotide variantNM_001142285.2(RPS24):c.439G>A (p.Glu147Lys)Diamond-Blackfan anemia 3 [RCV001292800]uncertain significance107805457978054579Human1name
126730191CV986007single nucleotide variantNM_001142285.2(RPS24):c.659C>T (p.Ala220Val)Diamond-Blackfan anemia 3 [RCV001294076]uncertain significance107805479978054799Human1name
126730195CV986008single nucleotide variantNM_001142285.2(RPS24):c.811A>C (p.Ile271Leu)Diamond-Blackfan anemia 3 [RCV001294077]uncertain significance107805495178054951Human1name
126732326CV1029779deletionNM_033022.4(RPS24):c.352_354del (p.Arg118del)Diamond-Blackfan anemia [RCV001349581]uncertain significance107803726678037268Human2name
597707010CV3726526inversionNM_001142285.2(RPS24):c.700_701inv (p.His234Cys)Diamond-Blackfan anemia 3 [RCV005041677]uncertain significance107805484078054841Humanname
243057209CV2415595deletionNM_001142285.2(RPS24):c.522del (p.Pro173_Trp174insTer)Diamond-Blackfan anemia 3 [RCV003148195]uncertain significance107805466178054661Human1name
155714848CV1820880deletionNM_033022.4(RPS24):c.86_103del (p.His29_Val35delinsLeu)Diamond-Blackfan anemia [RCV002447995]uncertain significance107803552778035544Human2name
13832279CV582772deletionNM_001142285.2(RPS24):c.508_516del (p.Val170_Gly172del)not provided [RCV000722965]uncertain significance107805464778054655Humanname
8559781CV22286indelNM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer)Diamond-Blackfan anemia 3 [RCV000007669]pathogenic107803535278035354Humanname