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291 records found for search term Rps20
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150449560CV1215124single nucleotide variantNM_001023.4(RPS20):c.-6A>GLynch syndrome [RCV005369924]|not provided [RCV001611714]|not specified [RCV004596476]benign85607438956074389Human1name
405008969CV2853146single nucleotide variantNM_001023.4(RPS20):c.-3G>Tnot specified [RCV003494340]uncertain significance85607438656074386Humanname
126908137CV1045610single nucleotide variantNM_001023.4(RPS20):c.3+5G>Anot provided [RCV001367629]uncertain significance85607437656074376Humanname
127310857CV1155994single nucleotide variantNM_001023.4(RPS20):c.4-3T>CDiamond-Blackfan anemia [RCV005361641]|not provided [RCV001518424]|not specified [RCV002465880]benign85607416256074162Human2name
151781374CV1422104single nucleotide variantNM_001023.4(RPS20):c.4-8A>Gnot provided [RCV001972112]likely benign|uncertain significance85607416756074167Humanname
151802395CV1442396single nucleotide variantNM_001023.4(RPS20):c.4-4A>Gnot provided [RCV002011694]uncertain significance85607416356074163Humanname
152064855CV1535883single nucleotide variantNM_001023.4(RPS20):c.3+7C>Tnot provided [RCV002168498]likely benign85607437456074374Humanname
153002263CV1685470single nucleotide variantNM_001023.4(RPS20):c.-90G>Tnot provided [RCV002259456]likely benign85607447356074473Humanname
155799397CV1859793deletionNM_001023.4(RPS20):c.*21delnot specified [RCV002466037]benign85607306956073069Humanname
155799408CV1859798single nucleotide variantNM_001023.4(RPS20):c.-33A>Tnot specified [RCV002466042]likely benign85607441656074416Humanname
401798295CV2741360single nucleotide variantNM_001023.4(RPS20):c.-44C>Tnot specified [RCV003322523]likely benign85607442756074427Humanname
407481221CV3415245single nucleotide variantNM_001023.4(RPS20):c.-22A>Gnot specified [RCV004595960]likely benign85607440556074405Humanname
598125478CV3881626single nucleotide variantNM_001023.4(RPS20):c.*21G>Anot specified [RCV005232532]likely benign85607306956073069Humanname
14709453CV651993single nucleotide variantNM_001023.4(RPS20):c.4-3T>Anot provided [RCV000812058]|not specified [RCV005268775]likely benign|uncertain significance85607416256074162Humanname
26886648CV851205single nucleotide variantNM_001023.4(RPS20):c.3+9G>Tnot provided [RCV001055237]likely benign|uncertain significance85607437256074372Humanname
150485820CV1223079single nucleotide variantNM_001023.4(RPS20):c.4-11T>CFamilial colorectal cancer type X [RCV005361686]|not provided [RCV001617792]|not specified [RCV002465896]benign85607417056074170Human1name
150460284CV1231316single nucleotide variantNM_001023.4(RPS20):c.4-90G>Anot provided [RCV001640880]benign85607424956074249Humanname
150444948CV1249493single nucleotide variantNM_001023.4(RPS20):c.-117G>Cnot provided [RCV001666926]benign85607450056074500Humanname
150472667CV1252282single nucleotide variantNM_001023.4(RPS20):c.4-19T>Cnot provided [RCV001671483]benign85607417856074178Humanname
150468569CV1267953single nucleotide variantNM_001023.3(RPS20):c.*236G>Cnot provided [RCV001694816]benign85607285456072854Humanname
150465504CV1277250single nucleotide variantNM_001023.4(RPS20):c.3+57C>Gnot provided [RCV001710544]benign85607432456074324Humanname
152027905CV1607539single nucleotide variantNM_001023.4(RPS20):c.4-15T>Cnot provided [RCV002105053]likely benign85607417456074174Humanname
152157492CV1630565single nucleotide variantNM_001023.4(RPS20):c.3+13T>Gnot provided [RCV002122625]benign85607436856074368Humanname
152047984CV1654101single nucleotide variantNM_001023.4(RPS20):c.4-16A>Gnot provided [RCV002088778]|not specified [RCV004596516]likely benign85607417556074175Humanname
152104433CV1658596single nucleotide variantNM_001023.4(RPS20):c.3+11A>Gnot provided [RCV002152208]likely benign85607437056074370Humanname
155799404CV1859796single nucleotide variantNM_001023.4(RPS20):c.4-40A>Gnot specified [RCV002466040]benign85607419956074199Humanname
155799405CV1859797single nucleotide variantNM_001023.4(RPS20):c.3+21G>Anot specified [RCV002466041]likely benign85607436056074360Humanname
156413610CV1901011single nucleotide variantNM_001023.4(RPS20):c.4-14G>Anot provided [RCV002588215]likely benign85607417356074173Humanname
156109862CV2121097single nucleotide variantNM_001023.4(RPS20):c.4-10C>Anot provided [RCV002953066]likely benign85607416956074169Humanname
401798152CV2741356single nucleotide variantNM_001023.4(RPS20):c.4-45A>Gnot specified [RCV003322519]likely benign85607420456074204Humanname
405008958CV2853145single nucleotide variantNM_001023.4(RPS20):c.4-39T>Anot specified [RCV003494339]likely benign85607419856074198Humanname
405226840CV2892289duplicationNM_001023.4(RPS20):c.4-17dupnot provided [RCV003554704]likely benign85607417556074176Humanname
405231412CV2895772single nucleotide variantNM_001023.4(RPS20):c.3+15G>Anot provided [RCV003555585]likely benign85607436656074366Humanname
405128928CV3054446single nucleotide variantNM_001023.4(RPS20):c.4-12A>Gnot provided [RCV003724646]likely benign85607417156074171Humanname
405272622CV3201321single nucleotide variantNM_001023.4(RPS20):c.3+10C>ARPS20-related disorder [RCV003901385]likely benign85607437156074371Humanname , trait , alternate_id
598125481CV3881629single nucleotide variantNM_001023.4(RPS20):c.3+29C>Tnot specified [RCV005232535]likely benign85607435256074352Humanname
151793248CV1511237single nucleotide variantNM_001023.4(RPS20):c.177+1G>Anot provided [RCV001990271]uncertain significance85607369456073694Humanname
152087606CV1594728single nucleotide variantNM_001023.4(RPS20):c.104-7C>Tnot provided [RCV002113619]likely benign85607377556073775Humanname
152081427CV1645077single nucleotide variantNM_001023.4(RPS20):c.104-6C>Tnot provided [RCV002149362]likely benign85607377456073774Humanname
156294960CV1884206single nucleotide variantNM_001023.4(RPS20):c.103+8C>Tnot provided [RCV003087653]likely benign85607405256074052Humanname
156030239CV1923188single nucleotide variantNM_001023.4(RPS20):c.178-3C>Tnot provided [RCV002637127]uncertain significance85607327556073275Humanname
156026586CV2078145single nucleotide variantNM_001023.4(RPS20):c.177+2T>Cnot provided [RCV002866866]uncertain significance85607369356073693Humanname
156256936CV2090086single nucleotide variantNM_001023.4(RPS20):c.177+4A>Gnot provided [RCV002877134]uncertain significance85607369156073691Humanname
405240274CV2882705single nucleotide variantNM_001023.4(RPS20):c.103+9A>Gnot provided [RCV003557186]likely benign85607405156074051Humanname
597962763CV3841083single nucleotide variantNM_001023.4(RPS20):c.104-6C>Anot provided [RCV005193376]likely benign85607377456073774Humanname
616938888CV4015162single nucleotide variantNM_001023.4(RPS20):c.178-2A>CHereditary cancer-predisposing syndrome [RCV005412178]likely pathogenic85607327456073274Human1name
14711915CV651983single nucleotide variantNM_001023.4(RPS20):c.103+5G>Anot provided [RCV000819256]uncertain significance85607405556074055Humanname
15161828CV744316single nucleotide variantNM_001023.4(RPS20):c.178-7G>Tnot provided [RCV000903426]likely benign85607327956073279Humanname
26916426CV851696single nucleotide variantNM_001023.4(RPS20):c.178-3C>Anot provided [RCV001040381]uncertain significance85607327556073275Humanname
38483887CV940109single nucleotide variantNM_001023.4(RPS20):c.177+6G>Anot provided [RCV001207820]uncertain significance85607368956073689Humanname
38494727CV960654single nucleotide variantNM_001023.4(RPS20):c.103+3C>Tnot provided [RCV001241492]|not specified [RCV005269014]uncertain significance85607405756074057Humanname
150496054CV1225229single nucleotide variantNM_001023.4(RPS20):c.177+76G>Cnot provided [RCV001619707]benign85607361956073619Humanname
150443853CV1249334single nucleotide variantNM_001023.4(RPS20):c.104-90T>Cnot provided [RCV001666766]benign85607385856073858Humanname
150444171CV1266492single nucleotide variantNM_001146227.3(RPS20):c.*35G>Anot provided [RCV001690928]|not specified [RCV003321867]benign85606970356069703Humanname
150494454CV1267355single nucleotide variantNM_001023.4(RPS20):c.103+88G>Cnot provided [RCV001688383]benign85607397256073972Humanname
150535096CV1311773single nucleotide variantNM_001146227.3(RPS20):c.*14C>TLynch syndrome [RCV005361721]|not provided [RCV001779583]|not specified [RCV002465904]benign|likely benign85606972456069724Human1name
152110259CV1519494duplicationNM_001023.4(RPS20):c.177+19dupnot provided [RCV002152958]|not specified [RCV002465924]benign85607367556073676Humanname
152072653CV1549450single nucleotide variantNM_001023.4(RPS20):c.103+19C>Anot provided [RCV002091801]likely benign85607404156074041Humanname
152164230CV1560541single nucleotide variantNM_001023.4(RPS20):c.177+19G>Anot provided [RCV002160207]benign85607367656073676Humanname
152121185CV1562458single nucleotide variantNM_001023.4(RPS20):c.103+19C>Gnot provided [RCV002098172]likely benign85607404156074041Humanname
152027173CV1562527single nucleotide variantNM_001023.4(RPS20):c.178-12C>Gnot provided [RCV002104804]likely benign85607328456073284Humanname
152148445CV1566270single nucleotide variantNM_001023.4(RPS20):c.103+12C>Tnot provided [RCV002139157]likely benign85607404856074048Humanname
152112531CV1573333single nucleotide variantNM_001023.4(RPS20):c.178-17T>Gnot provided [RCV002215689]likely benign85607328956073289Humanname
152094947CV1599448single nucleotide variantNM_001023.4(RPS20):c.178-18C>Anot provided [RCV002094712]likely benign85607329056073290Humanname
152137096CV1625464single nucleotide variantNM_001023.4(RPS20):c.103+14T>Anot provided [RCV002137688]likely benign85607404656074046Humanname
152169258CV1636973single nucleotide variantNM_001023.4(RPS20):c.177+12C>Tnot provided [RCV002182731]|not specified [RCV003321900]likely benign85607368356073683Humanname
152117186CV1645899single nucleotide variantNM_001023.4(RPS20):c.177+14G>Tnot provided [RCV002175089]likely benign85607368156073681Humanname
156294267CV1926674single nucleotide variantNM_001023.4(RPS20):c.178-19C>Tnot provided [RCV002628942]likely benign85607329156073291Humanname
156282927CV1929572single nucleotide variantNM_001023.4(RPS20):c.177+18G>Anot provided [RCV002628495]uncertain significance85607367756073677Humanname
401798285CV2741347single nucleotide variantNM_001023.4(RPS20):c.177+14G>Anot specified [RCV003322510]likely benign85607368156073681Humanname
401798289CV2741352single nucleotide variantNM_001023.4(RPS20):c.104-16C>Tnot provided [RCV005061269]|not specified [RCV003322515]likely benign85607378456073784Humanname
405008918CV2853143single nucleotide variantNM_001023.4(RPS20):c.103+22G>Tnot specified [RCV003494337]likely benign85607403856074038Humanname
405008931CV2853144single nucleotide variantNM_001023.4(RPS20):c.103+20G>Anot specified [RCV003494338]likely benign85607404056074040Humanname
405227821CV2889006deletionNM_001023.4(RPS20):c.104-11delnot provided [RCV003554853]likely benign85607377956073779Humanname
405128630CV2893377single nucleotide variantNM_001023.4(RPS20):c.178-14G>Anot provided [RCV003559821]likely benign85607328656073286Humanname
405216922CV2897226single nucleotide variantNM_001023.4(RPS20):c.178-14G>Cnot provided [RCV003567898]likely benign85607328656073286Humanname
405203112CV3052842single nucleotide variantNM_001023.4(RPS20):c.103+13G>Cnot provided [RCV003730988]likely benign85607404756074047Humanname
405138418CV3155074deletionNM_001023.4(RPS20):c.177+19delnot provided [RCV003855312]benign85607367656073676Humanname
407477230CV3415240single nucleotide variantNM_001146227.3(RPS20):c.*34A>Cnot specified [RCV004595955]uncertain significance85606970456069704Humanname
407481463CV3415243single nucleotide variantNM_001023.4(RPS20):c.177+37T>Cnot specified [RCV004595958]likely benign85607365856073658Humanname
597968983CV3791179single nucleotide variantNM_001023.4(RPS20):c.178-13T>Cnot provided [RCV005141211]likely benign85607328556073285Humanname
597971429CV3802574single nucleotide variantNM_001023.4(RPS20):c.178-18C>Tnot provided [RCV005142172]likely benign85607329056073290Humanname
597931919CV3837939single nucleotide variantNM_001023.4(RPS20):c.103+16A>Gnot provided [RCV005185908]likely benign85607404456074044Humanname
597867488CV3838709single nucleotide variantNM_001023.4(RPS20):c.177+13G>Anot provided [RCV005176005]likely benign85607368256073682Humanname
597918710CV3842469single nucleotide variantNM_001023.4(RPS20):c.177+12C>Anot provided [RCV005183954]likely benign85607368356073683Humanname
598121899CV3881622single nucleotide variantNM_001146227.3(RPS20):c.*25T>Anot specified [RCV005232528]likely benign85606971356069713Humanname
598203804CV3896533single nucleotide variantNM_001023.4(RPS20):c.178-12C>TDiamond-Blackfan anemia [RCV005356761]likely benign85607328456073284Human2name
150472371CV1272477single nucleotide variantNM_001023.4(RPS20):c.177+180A>Gnot provided [RCV001695533]benign85607351556073515Humanname
150484929CV1273835single nucleotide variantNM_001023.4(RPS20):c.178-181G>Cnot provided [RCV001698607]benign85607345356073453Humanname
402479303CV2853141single nucleotide variantNM_001146227.3(RPS20):c.*35+8T>Anot specified [RCV003494335]likely benign85606969556069695Humanname
407477243CV3415241single nucleotide variantNM_001146227.3(RPS20):c.334-9G>Cnot specified [RCV004595956]likely benign85606984256069842Humanname
155794748CV1859792single nucleotide variantNM_001146227.3(RPS20):c.334-32C>Gnot specified [RCV002466036]likely benign85606986556069865Humanname
401795773CV2741330deletionNM_001146227.3(RPS20):c.334-22delnot specified [RCV003322493]likely benign85606985556069855Humanname
405124561CV2889560deletionNM_001023.4(RPS20):c.3+11_3+20delnot provided [RCV003559441]uncertain significance85607436156074370Humanname
598121901CV3881625single nucleotide variantNM_001146227.3(RPS20):c.334-45T>Cnot specified [RCV005232531]likely benign85606987856069878Humanname
150509232CV1214248single nucleotide variantNM_001146227.3(RPS20):c.*35+247T>Cnot provided [RCV001596769]benign85606945656069456Humanname
150432321CV1236721single nucleotide variantNM_001146227.3(RPS20):c.*35+178G>Cnot provided [RCV001642126]benign85606952556069525Humanname
150449373CV1260813single nucleotide variantNM_001146227.3(RPS20):c.334-187G>Anot provided [RCV001680482]benign85607002056070020Humanname
150484262CV1263139single nucleotide variantNM_001146227.3(RPS20):c.*35+220C>Tnot provided [RCV001686539]benign85606948356069483Humanname
155727140CV1822442single nucleotide variantNM_001023.4(RPS20):c.6T>A (p.Ala2=)not specified [RCV004055132]likely benign85607415756074157Humanname
156060077CV2034485deletionNM_001023.4(RPS20):c.178-9_178-8delnot provided [RCV002736808]|not specified [RCV003321957]likely benign85607328056073281Humanname
156321017CV2101001single nucleotide variantNM_001023.4(RPS20):c.9T>C (p.Phe3=)not provided [RCV002899291]|not specified [RCV004661492]likely benign85607415456074154Humanname
401924019CV2821094single nucleotide variantNM_001023.4(RPS20):c.6T>C (p.Ala2=)not provided [RCV003435501]|not specified [RCV004857980]likely benign85607415756074157Humanname
597931124CV3789430duplicationNM_001023.4(RPS20):c.173_177+165dupnot provided [RCV005131711]uncertain significance85607352956073530Humanname
127293914CV1118711single nucleotide variantNM_001023.4(RPS20):c.21A>G (p.Gly7=)not provided [RCV001452124]|not specified [RCV004038506]likely benign85607414256074142Humanname
152046929CV1556331single nucleotide variantNM_001023.4(RPS20):c.18C>T (p.Thr6=)not provided [RCV002207030]|not specified [RCV004045606]likely benign85607414556074145Humanname
152083150CV1655063single nucleotide variantNM_001023.4(RPS20):c.21A>C (p.Gly7=)not provided [RCV002113032]|not specified [RCV004045883]likely benign85607414256074142Humanname
155720564CV1835803single nucleotide variantNM_001023.4(RPS20):c.12G>A (p.Lys4=)not specified [RCV004058250]likely benign85607415156074151Humanname
155719591CV1837392single nucleotide variantNM_001023.4(RPS20):c.15T>C (p.Asp5=)not specified [RCV004057418]likely benign85607414856074148Humanname
155733555CV1842648single nucleotide variantNM_001023.4(RPS20):c.18C>G (p.Thr6=)not provided [RCV005097823]|not specified [RCV004060761]likely benign85607414556074145Humanname
155686481CV1852594single nucleotide variantNM_001023.4(RPS20):c.27A>G (p.Thr9=)not specified [RCV004062250]likely benign85607413656074136Humanname
329352592CV2463778single nucleotide variantNM_001023.4(RPS20):c.24A>G (p.Lys8=)not specified [RCV004279609]likely benign85607413956074139Humanname
151867648CV1348608single nucleotide variantNM_001023.4(RPS20):c.5C>T (p.Ala2Val)Hereditary nonpolyposis colon cancer [RCV003470994]|not provided [RCV001924805]|not specified [RCV004041321]uncertain significance85607415856074158Human1name
151828125CV1438045single nucleotide variantNM_001023.4(RPS20):c.3G>A (p.Met1Ile)not provided [RCV001920223]uncertain significance85607438156074381Humanname
152067075CV1566743single nucleotide variantNM_001023.4(RPS20):c.93C>T (p.Ser31=)not provided [RCV002091065]|not specified [RCV004045776]likely benign85607407056074070Humanname
152138000CV1652485single nucleotide variantNM_001023.4(RPS20):c.78C>T (p.Ser26=)not provided [RCV002083776]|not specified [RCV004045739]likely benign85607408556074085Humanname
152103189CV1656769single nucleotide variantNM_001023.4(RPS20):c.70C>T (p.Leu24=)not provided [RCV002115615]|not specified [RCV004046273]likely benign85607409356074093Humanname
155716061CV1785082single nucleotide variantNM_001023.4(RPS20):c.30C>G (p.Pro10=)not provided [RCV003560940]|not specified [RCV004048330]likely benign85607413356074133Humanname
155716085CV1785089single nucleotide variantNM_001023.4(RPS20):c.30C>T (p.Pro10=)not provided [RCV003099197]|not specified [RCV003493932]likely benign85607413356074133Humanname
155696910CV1793907single nucleotide variantNM_001023.4(RPS20):c.39G>A (p.Pro13=)not specified [RCV004050576]likely benign85607412456074124Humanname
155710265CV1811617single nucleotide variantNM_001023.4(RPS20):c.63A>G (p.Arg21=)not specified [RCV004053936]likely benign85607410056074100Humanname
155726991CV1822370single nucleotide variantNM_001023.4(RPS20):c.69C>T (p.Thr23=)not specified [RCV004055105]likely benign85607409456074094Humanname
155728901CV1822694single nucleotide variantNM_001023.4(RPS20):c.72A>T (p.Leu24=)not specified [RCV004055861]likely benign85607409156074091Humanname
155744707CV1824354single nucleotide variantNM_001023.4(RPS20):c.84C>T (p.Asn28=)RPS20-related disorder [RCV005397403]|not specified [RCV004056194]likely benign85607407956074079Humanname , trait , alternate_id
155690852CV1825058single nucleotide variantNM_001023.4(RPS20):c.93C>G (p.Ser31=)not specified [RCV004055734]likely benign85607407056074070Humanname
155730995CV1825872single nucleotide variantNM_001023.4(RPS20):c.99A>G (p.Glu33=)not specified [RCV004057755]likely benign85607406456074064Humanname
156261903CV2030161single nucleotide variantNM_001023.4(RPS20):c.54C>T (p.His18=)not provided [RCV002746339]likely benign85607410956074109Humanname
329392111CV2470391single nucleotide variantNM_001023.4(RPS20):c.66C>T (p.Ile22=)not specified [RCV004273427]likely benign85607409756074097Humanname
401765045CV2733458single nucleotide variantNM_001023.4(RPS20):c.69C>G (p.Thr23=)not specified [RCV004330386]likely benign85607409456074094Humanname
401867968CV2787263single nucleotide variantNM_001023.4(RPS20):c.87A>T (p.Val29=)not specified [RCV004366232]likely benign85607407656074076Humanname
401947442CV2833476single nucleotide variantNM_001023.4(RPS20):c.5C>G (p.Ala2Gly)Hereditary nonpolyposis colon cancer [RCV003466263]uncertain significance85607415856074158Human1name
405701464CV3392171single nucleotide variantNM_001023.4(RPS20):c.94T>C (p.Leu32=)not specified [RCV004521050]likely benign85607406956074069Humanname
598125480CV3881628single nucleotide variantNM_001023.4(RPS20):c.30C>A (p.Pro10=)not specified [RCV005232534]likely benign85607413356074133Humanname
598220270CV3903007single nucleotide variantNM_001023.4(RPS20):c.75A>C (p.Thr25=)not specified [RCV005272446]likely benign85607408856074088Humanname
598220295CV3903011single nucleotide variantNM_001023.4(RPS20):c.48A>G (p.Ala16=)not specified [RCV005272450]likely benign85607411556074115Humanname
15102651CV723153single nucleotide variantNM_001023.4(RPS20):c.87A>G (p.Val29=)not provided [RCV000892521]|not specified [RCV004028421]likely benign85607407656074076Humanname
126761155CV992885single nucleotide variantNM_001023.4(RPS20):c.81C>T (p.Arg27=)not provided [RCV001300008]|not specified [RCV004036158]likely benign|uncertain significance85607408256074082Humanname
127273245CV1097152single nucleotide variantNM_001023.4(RPS20):c.117G>A (p.Leu39=)not provided [RCV001442463]|not specified [RCV004038404]likely benign85607375556073755Humanname
127336020CV1118710single nucleotide variantNM_001023.4(RPS20):c.144C>T (p.Leu48=)not provided [RCV001474708]|not specified [RCV004037154]likely benign85607372856073728Humanname
127307135CV1155992single nucleotide variantNM_001023.4(RPS20):c.271T>C (p.Leu91=)not provided [RCV001516945]|not specified [RCV004037940]benign|likely benign85607317956073179Humanname
127291770CV1155993single nucleotide variantNM_001023.4(RPS20):c.195A>G (p.Thr65=)not provided [RCV001510547]benign85607325556073255Humanname
151757565CV1459773single nucleotide variantNM_001023.4(RPS20):c.177G>A (p.Lys59=)not provided [RCV001986905]uncertain significance85607369556073695Humanname
152046277CV1519591single nucleotide variantNM_001023.4(RPS20):c.282T>G (p.Pro94=)not provided [RCV002145115]|not specified [RCV004046381]likely benign85607316856073168Humanname
152158138CV1564344single nucleotide variantNM_001023.4(RPS20):c.270C>T (p.Asp90=)not provided [RCV002140461]|not specified [RCV003321909]likely benign85607318056073180Humanname
152030068CV1565981single nucleotide variantNM_001023.4(RPS20):c.192T>C (p.Thr64=)not provided [RCV002086020]|not specified [RCV004045759]likely benign85607325856073258Humanname
152138325CV1570877single nucleotide variantNM_001023.4(RPS20):c.138G>A (p.Lys46=)not provided [RCV002120016]|not specified [RCV004046297]likely benign85607373456073734Humanname
152129264CV1584273single nucleotide variantNM_001023.4(RPS20):c.219T>G (p.Gly73=)not provided [RCV002082640]|not specified [RCV004044954]likely benign85607323156073231Humanname
152083805CV1624032single nucleotide variantNM_001023.4(RPS20):c.105G>A (p.Val35=)not provided [RCV002149655]|not specified [RCV004046340]likely benign85607376756073767Humanname
155666618CV1793172single nucleotide variantNM_001023.4(RPS20):c.114C>T (p.Asp38=)not specified [RCV004049305]likely benign85607375856073758Humanname
155682593CV1804404single nucleotide variantNM_001023.4(RPS20):c.121A>C (p.Arg41=)not specified [RCV004053469]likely benign85607375156073751Humanname
155732623CV1826460single nucleotide variantNM_001023.4(RPS20):c.102G>A (p.Lys34=)not provided [RCV003738239]|not specified [RCV004058824]likely benign|uncertain significance85607406156074061Humanname
155689153CV1826647single nucleotide variantNM_001023.4(RPS20):c.141T>C (p.Asn47=)not specified [RCV004057236]likely benign85607373156073731Humanname
155709798CV1830893single nucleotide variantNM_001023.4(RPS20):c.163C>A (p.Arg55=)not specified [RCV004058129]likely benign85607370956073709Humanname
155745494CV1831320single nucleotide variantNM_001023.4(RPS20):c.171T>A (p.Pro57=)not specified [RCV004060616]likely benign85607370156073701Humanname
155732701CV1834081single nucleotide variantNM_001023.4(RPS20):c.162T>G (p.Val54=)not specified [RCV004058072]likely benign85607371056073710Humanname
155743385CV1839393single nucleotide variantNM_001023.4(RPS20):c.183G>A (p.Leu61=)not provided [RCV005097784]|not specified [RCV004059973]likely benign85607326756073267Humanname
155669599CV1842182single nucleotide variantNM_001023.4(RPS20):c.261A>G (p.Arg87=)not provided [RCV003574965]|not specified [RCV004062957]likely benign85607318956073189Humanname
155733453CV1842623single nucleotide variantNM_001023.4(RPS20):c.189C>T (p.Ile63=)not specified [RCV004060751]likely benign85607326156073261Humanname
155695520CV1844646single nucleotide variantNM_001023.4(RPS20):c.225G>A (p.Lys75=)not provided [RCV003101177]|not specified [RCV004061944]likely benign85607322556073225Humanname
155748129CV1846834single nucleotide variantNM_001023.4(RPS20):c.210T>C (p.Cys70=)not specified [RCV004060363]likely benign85607324056073240Humanname
155726361CV1848580single nucleotide variantNM_001023.4(RPS20):c.255C>T (p.His85=)not specified [RCV004062218]likely benign85607319556073195Humanname
155683884CV1849477single nucleotide variantNM_001023.4(RPS20):c.198A>G (p.Arg66=)not specified [RCV004061667]likely benign85607325256073252Humanname
155706197CV1850753single nucleotide variantNM_001023.4(RPS20):c.228G>C (p.Thr76=)not specified [RCV004062568]likely benign85607322256073222Humanname
155724505CV1851728single nucleotide variantNM_001023.4(RPS20):c.252T>A (p.Ile84=)not specified [RCV004062118]likely benign85607319856073198Humanname
155686462CV1852585single nucleotide variantNM_001023.4(RPS20):c.279T>C (p.Ser93=)not specified [RCV004062247]likely benign85607317156073171Humanname
155666146CV1855524single nucleotide variantNM_001023.4(RPS20):c.285T>G (p.Ser95=)not specified [RCV004062447]likely benign85607316556073165Humanname
155674915CV1855850single nucleotide variantNM_001023.4(RPS20):c.288G>A (p.Glu96=)not specified [RCV004063059]likely benign85607316256073162Humanname
155689722CV1856522single nucleotide variantNM_001023.4(RPS20):c.297G>A (p.Lys99=)not provided [RCV003561047]|not specified [RCV004065419]likely benign85607315356073153Humanname
329384533CV2428954single nucleotide variantNM_001023.4(RPS20):c.222T>C (p.Ser74=)RPS20-related disorder [RCV005399273]|not specified [RCV004247481]likely benign85607322856073228Humanname , trait , alternate_id
329352529CV2453154single nucleotide variantNM_001023.4(RPS20):c.126C>T (p.Gly42=)not provided [RCV005101332]|not specified [RCV004279534]likely benign85607374656073746Humanname
401774924CV2728315single nucleotide variantNM_001023.4(RPS20):c.276C>T (p.His92=)not specified [RCV004326096]likely benign85607317456073174Humanname
401867963CV2787262single nucleotide variantNM_001023.4(RPS20):c.144C>G (p.Leu48=)not specified [RCV004366231]likely benign85607372856073728Humanname
405226570CV2892598single nucleotide variantNM_001023.4(RPS20):c.16A>T (p.Thr6Ser)not provided [RCV003554767]uncertain significance85607414756074147Humanname
405153398CV2894061single nucleotide variantNM_001023.4(RPS20):c.184A>C (p.Arg62=)not provided [RCV003561883]|not specified [RCV005273732]likely benign85607326656073266Humanname
405701437CV3392167single nucleotide variantNM_001023.4(RPS20):c.123A>G (p.Arg41=)not specified [RCV004521046]likely benign85607374956073749Humanname
405701455CV3392170single nucleotide variantNM_001023.4(RPS20):c.285T>C (p.Ser95=)not specified [RCV004521049]likely benign85607316556073165Humanname
407488029CV3476197single nucleotide variantNM_001023.4(RPS20):c.17C>T (p.Thr6Ile)not specified [RCV004665793]uncertain significance85607414656074146Humanname
407513777CV3476201single nucleotide variantNM_001023.4(RPS20):c.135A>G (p.Glu45=)not specified [RCV004674243]likely benign85607373756073737Humanname
597786024CV3594350single nucleotide variantNM_001023.4(RPS20):c.174C>A (p.Thr58=)not specified [RCV004854899]likely benign85607369856073698Humanname
597709902CV3594352single nucleotide variantNM_001023.4(RPS20):c.115T>C (p.Leu39=)not specified [RCV004860894]likely benign85607375756073757Humanname
598220257CV3903005single nucleotide variantNM_001023.4(RPS20):c.258G>A (p.Lys86=)not specified [RCV005272444]likely benign85607319256073192Humanname
598220275CV3903008single nucleotide variantNM_001023.4(RPS20):c.273G>A (p.Leu91=)not specified [RCV005272447]likely benign85607317756073177Humanname
15191254CV736721single nucleotide variantNM_001023.4(RPS20):c.228G>A (p.Thr76=)Familial colorectal cancer type X [RCV005367623]|not provided [RCV000910192]|not specified [RCV002465810]benign|likely benign85607322256073222Human1name
15129154CV736722single nucleotide variantNM_001023.4(RPS20):c.150G>A (p.Val50=)Diamond-Blackfan anemia [RCV005359649]|not provided [RCV000897393]|not specified [RCV002465808]likely benign85607372256073722Human2name
15185701CV766864single nucleotide variantNM_001023.4(RPS20):c.174C>T (p.Thr58=)not provided [RCV000931134]|not specified [RCV004659262]likely benign85607369856073698Humanname
26894243CV834918single nucleotide variantNM_001023.4(RPS20):c.26C>T (p.Thr9Ile)Hereditary nonpolyposis colon cancer [RCV004570266]|not provided [RCV001063332]|not specified [RCV004030490]uncertain significance85607413756074137Human1name
26885944CV834919single nucleotide variantNM_001023.4(RPS20):c.11A>G (p.Lys4Arg)not provided [RCV001054358]uncertain significance85607415256074152Humanname
126921330CV1045609single nucleotide variantNM_001023.4(RPS20):c.43G>A (p.Val15Met)not provided [RCV001374331]|not specified [RCV004037610]uncertain significance85607412056074120Humanname
127270036CV1097151single nucleotide variantNM_001023.4(RPS20):c.348T>C (p.Ile116=)not provided [RCV001441290]|not specified [RCV004038393]likely benign85607310256073102Humanname
151831448CV1343638single nucleotide variantNM_001023.4(RPS20):c.31G>A (p.Val11Met)not provided [RCV001920530]|not specified [RCV004043323]uncertain significance85607413256074132Humanname
151848900CV1358465single nucleotide variantNM_001023.4(RPS20):c.28C>G (p.Pro10Ala)not provided [RCV001937086]uncertain significance85607413556074135Humanname
155715900CV1785040single nucleotide variantNM_001023.4(RPS20):c.309C>T (p.Ser103=)not specified [RCV004048317]likely benign85607314156073141Humanname
155729566CV1786271single nucleotide variantNM_001023.4(RPS20):c.354T>C (p.Asp118=)not specified [RCV004049100]likely benign85607309656073096Humanname
155676418CV1796134single nucleotide variantNM_001023.4(RPS20):c.35A>G (p.Glu12Gly)not specified [RCV004049206]uncertain significance85607412856074128Humanname
155707845CV1798741single nucleotide variantNM_001023.4(RPS20):c.46G>A (p.Ala16Thr)not specified [RCV004052001]uncertain significance85607411756074117Humanname
155737149CV1805326single nucleotide variantNM_001023.4(RPS20):c.47C>T (p.Ala16Val)not specified [RCV004052156]uncertain significance85607411656074116Humanname
155715476CV1812236single nucleotide variantNM_001023.4(RPS20):c.68C>T (p.Thr23Ile)not specified [RCV004052941]uncertain significance85607409556074095Humanname
155698583CV1855093single nucleotide variantNM_001023.4(RPS20):c.306T>C (p.Thr102=)not provided [RCV005098413]|not specified [RCV004066435]likely benign85607314456073144Humanname
155698618CV1855100single nucleotide variantNM_001023.4(RPS20):c.306T>G (p.Thr102=)not specified [RCV004066437]likely benign85607314456073144Humanname
155667876CV1856060single nucleotide variantNM_001023.4(RPS20):c.300G>A (p.Gln100=)not specified [RCV004065503]likely benign85607315056073150Humanname
156378976CV1876788single nucleotide variantNM_001023.4(RPS20):c.49A>G (p.Ile17Val)not provided [RCV003066998]uncertain significance85607411456074114Humanname
156274130CV1880489single nucleotide variantNM_001023.4(RPS20):c.357T>C (p.Ala119=)not provided [RCV003060826]likely benign85607309356073093Humanname
10408145CV205411duplicationNM_001023.4(RPS20):c.147dup (p.Val50fs)not provided [RCV000190884]|not specified [RCV004020304]uncertain significance85607372456073725Humanname
155957853CV2066495single nucleotide variantNM_001023.4(RPS20):c.73A>C (p.Thr25Pro)not provided [RCV002816618]uncertain significance85607409056074090Humanname
401774921CV2728314single nucleotide variantNM_001023.4(RPS20):c.84C>A (p.Asn28Lys)not specified [RCV004326095]uncertain significance85607407956074079Humanname
401765042CV2733456single nucleotide variantNM_001023.4(RPS20):c.91T>C (p.Ser31Pro)not specified [RCV004330384]uncertain significance85607407256074072Humanname
401947448CV2833479single nucleotide variantNM_001023.4(RPS20):c.29C>T (p.Pro10Leu)Hereditary nonpolyposis colon cancer [RCV003466266]|not specified [RCV005273702]uncertain significance85607413456074134Human1name
405125604CV2886487single nucleotide variantNM_001023.4(RPS20):c.92C>T (p.Ser31Phe)not provided [RCV003559539]|not specified [RCV004369223]uncertain significance85607407156074071Humanname
405220749CV3032204single nucleotide variantNM_001023.4(RPS20):c.38C>A (p.Pro13Gln)not provided [RCV003709933]uncertain significance85607412556074125Humanname
405215276CV3075376single nucleotide variantNM_001023.4(RPS20):c.71T>C (p.Leu24Pro)not provided [RCV003732551]uncertain significance85607409256074092Humanname
407513769CV3476196single nucleotide variantNM_001023.4(RPS20):c.46G>T (p.Ala16Ser)not specified [RCV004674240]uncertain significance85607411756074117Humanname
407513774CV3476199single nucleotide variantNM_001023.4(RPS20):c.345C>T (p.Thr115=)not specified [RCV004674242]likely benign85607310556073105Humanname
597786009CV3594346single nucleotide variantNM_001023.4(RPS20):c.67A>C (p.Thr23Pro)not specified [RCV004854896]uncertain significance85607409656074096Humanname
597830382CV3735391indelNM_001023.4(RPS20):c.3+11_3+13delinsGGGDiamond-Blackfan anemia [RCV005055308]uncertain significance85607436856074370Humanname
597951156CV3765338single nucleotide variantNM_001023.4(RPS20):c.52C>A (p.His18Asn)not provided [RCV005120982]uncertain significance85607411156074111Humanname
597909596CV3850010single nucleotide variantNM_001023.4(RPS20):c.36G>T (p.Glu12Asp)not provided [RCV005203358]uncertain significance85607412756074127Humanname
598125479CV3881627single nucleotide variantNM_001023.4(RPS20):c.98A>T (p.Glu33Val)not specified [RCV005232533]uncertain significance85607406556074065Humanname
598220289CV3903010single nucleotide variantNM_001023.4(RPS20):c.34G>A (p.Glu12Lys)not specified [RCV005272449]uncertain significance85607412956074129Humanname
15194347CV723152single nucleotide variantNM_001023.4(RPS20):c.333G>A (p.Glu111=)RPS20-related disorder [RCV005392510]|not provided [RCV000889198]|not specified [RCV004028385]likely benign85607311756073117Humanname , trait , alternate_id
15200936CV766863single nucleotide variantNM_001023.4(RPS20):c.351A>G (p.Ala117=)not provided [RCV000935521]|not specified [RCV004029625]likely benign85607309956073099Humanname
38499977CV955468duplicationNM_001023.4(RPS20):c.257dup (p.Arg87fs)not provided [RCV001245340]uncertain significance85607319256073193Humanname
126754881CV1008107single nucleotide variantNM_001023.4(RPS20):c.158C>A (p.Pro53Gln)Hereditary nonpolyposis colon cancer [RCV004570797]|not provided [RCV001327610]uncertain significance85607371456073714Human1name
127254512CV1097153indelNM_001023.4(RPS20):c.103+7_103+8delinsTTnot provided [RCV001437262]likely benign85607405256074053Humanname
151750474CV1359086single nucleotide variantNM_001023.4(RPS20):c.173C>G (p.Thr58Ser)not provided [RCV001969139]uncertain significance85607369956073699Humanname
151782422CV1369823single nucleotide variantNM_001023.4(RPS20):c.280C>T (p.Pro94Ser)not provided [RCV001930565]uncertain significance85607317056073170Humanname
151860342CV1374049single nucleotide variantNM_001023.4(RPS20):c.275A>G (p.His92Arg)not provided [RCV001938459]|not specified [RCV004043585]uncertain significance85607317556073175Humanname
151750133CV1377775single nucleotide variantNM_001023.4(RPS20):c.131A>G (p.Lys44Arg)not provided [RCV002043205]|not specified [RCV004046694]uncertain significance85607374156073741Humanname
155723571CV1804583single nucleotide variantNM_001023.4(RPS20):c.101A>C (p.Lys34Thr)not specified [RCV004054359]uncertain significance85607406256074062Humanname
155672597CV1809198single nucleotide variantNM_001023.4(RPS20):c.118A>G (p.Ile40Val)not specified [RCV004050298]uncertain significance85607375456073754Humanname
155675464CV1818517single nucleotide variantNM_001023.4(RPS20):c.122G>A (p.Arg41Lys)not provided [RCV003098359]|not specified [RCV004052767]uncertain significance85607375056073750Humanname
155718032CV1827680single nucleotide variantNM_001023.4(RPS20):c.158C>T (p.Pro53Leu)not provided [RCV003561015]|not specified [RCV004057350]uncertain significance85607371456073714Humanname
155713435CV1828143single nucleotide variantNM_001023.4(RPS20):c.166A>C (p.Met56Leu)not specified [RCV004059818]uncertain significance85607370656073706Humanname
155720848CV1834498single nucleotide variantNM_001023.4(RPS20):c.170C>T (p.Pro57Leu)not specified [RCV004060564]uncertain significance85607370256073702Humanname
155699457CV1836529single nucleotide variantNM_001023.4(RPS20):c.143T>C (p.Leu48Pro)not specified [RCV004057855]uncertain significance85607372956073729Humanname
155678131CV1845221single nucleotide variantNM_001023.4(RPS20):c.109G>A (p.Ala37Thr)not specified [RCV004063930]uncertain significance85607376356073763Humanname
155712933CV1845482single nucleotide variantNM_001023.4(RPS20):c.248G>T (p.Arg83Ile)not specified [RCV004063992]uncertain significance85607320256073202Humanname
155671662CV1845904single nucleotide variantNM_001023.4(RPS20):c.260G>A (p.Arg87Gln)Hereditary nonpolyposis colon cancer [RCV004571153]|not provided [RCV005098214]|not specified [RCV004062923]uncertain significance85607319056073190Human1name
155691709CV1848857single nucleotide variantNM_001023.4(RPS20):c.257A>C (p.Lys86Thr)not specified [RCV004062800]uncertain significance85607319356073193Humanname
155691714CV1848858single nucleotide variantNM_001023.4(RPS20):c.257A>G (p.Lys86Arg)not specified [RCV004062801]uncertain significance85607319356073193Humanname
155704461CV1849083single nucleotide variantNM_001023.4(RPS20):c.269A>G (p.Asp90Gly)not specified [RCV004063677]uncertain significance85607318156073181Humanname
155685722CV1850292single nucleotide variantNM_001023.4(RPS20):c.107G>A (p.Cys36Tyr)not specified [RCV004060357]uncertain significance85607376556073765Humanname
401774918CV2728313single nucleotide variantNM_001023.4(RPS20):c.182T>G (p.Leu61Trp)not specified [RCV004326094]uncertain significance85607326856073268Humanname
401798273CV2741337single nucleotide variantNM_001023.4(RPS20):c.266T>C (p.Ile89Thr)not provided [RCV005061268]|not specified [RCV003322500]uncertain significance85607318456073184Humanname
401867972CV2787264single nucleotide variantNM_001023.4(RPS20):c.191C>A (p.Thr64Asn)not specified [RCV004366233]uncertain significance85607325956073259Humanname
401947444CV2833477single nucleotide variantNM_001023.4(RPS20):c.163C>G (p.Arg55Gly)Hereditary nonpolyposis colon cancer [RCV003466264]uncertain significance85607370956073709Human1name
401947446CV2833478single nucleotide variantNM_001023.4(RPS20):c.133G>A (p.Glu45Lys)Hereditary nonpolyposis colon cancer [RCV003466265]uncertain significance85607373956073739Human1name
402479311CV2853142deletionNM_001146227.3(RPS20):c.334-25_334-22delnot specified [RCV003494336]likely benign85606985556069858Humanname
405163813CV2895522single nucleotide variantNM_001023.4(RPS20):c.193A>G (p.Thr65Ala)not provided [RCV003562533]uncertain significance85607325756073257Humanname
405231846CV2895812single nucleotide variantNM_001023.4(RPS20):c.157C>T (p.Pro53Ser)not provided [RCV003555595]|not specified [RCV004661696]uncertain significance85607371556073715Humanname
402479911CV2991011single nucleotide variantNM_001023.4(RPS20):c.286G>T (p.Glu96Ter)not provided [RCV003686489]uncertain significance85607316456073164Humanname
405025570CV3079091single nucleotide variantNM_001023.4(RPS20):c.239T>A (p.Phe80Tyr)not provided [RCV003738759]uncertain significance85607321156073211Humanname
405701448CV3392169single nucleotide variantNM_001023.4(RPS20):c.243G>C (p.Gln81His)not specified [RCV004521048]uncertain significance85607320756073207Humanname
405871333CV3399365single nucleotide variantNM_001023.4(RPS20):c.236G>A (p.Arg79His)Hereditary nonpolyposis colon cancer [RCV004574796]uncertain significance85607321456073214Human1name
405871334CV3399366single nucleotide variantNM_001023.4(RPS20):c.110C>G (p.Ala37Gly)Hereditary nonpolyposis colon cancer [RCV004574797]|not specified [RCV005274044]uncertain significance85607376256073762Human1name
407481325CV3415244single nucleotide variantNM_001023.4(RPS20):c.119T>G (p.Ile40Arg)not specified [RCV004595959]uncertain significance85607375356073753Humanname
407488033CV3476200single nucleotide variantNM_001023.4(RPS20):c.157C>G (p.Pro53Ala)not specified [RCV004665794]uncertain significance85607371556073715Humanname
407488038CV3476203single nucleotide variantNM_001023.4(RPS20):c.236G>T (p.Arg79Leu)not specified [RCV004665795]uncertain significance85607321456073214Humanname
597709896CV3594349single nucleotide variantNM_001023.4(RPS20):c.235C>A (p.Arg79Ser)not specified [RCV004860893]uncertain significance85607321556073215Humanname
597786259CV3594351single nucleotide variantNM_001023.4(RPS20):c.173C>T (p.Thr58Ile)not specified [RCV004854900]uncertain significance85607369956073699Humanname
597947882CV3771779duplicationNM_001023.4(RPS20):c.334dup (p.Val112fs)not provided [RCV005120305]uncertain significance85607311556073116Humanname
597871744CV3835747single nucleotide variantNM_001023.4(RPS20):c.227C>T (p.Thr76Met)not provided [RCV005176738]uncertain significance85607322356073223Humanname
597907565CV3853595single nucleotide variantNM_001023.4(RPS20):c.128C>G (p.Ala43Gly)not provided [RCV005203075]uncertain significance85607374456073744Humanname
597866727CV3861257single nucleotide variantNM_001023.4(RPS20):c.104T>C (p.Val35Ala)not provided [RCV005196605]uncertain significance85607376856073768Humanname
598220301CV3903012single nucleotide variantNM_001023.4(RPS20):c.142C>T (p.Leu48Phe)not specified [RCV005272451]uncertain significance85607373056073730Humanname
14708263CV637301single nucleotide variantNM_001023.4(RPS20):c.154G>A (p.Gly52Arg)not provided [RCV000809089]uncertain significance85607371856073718Humanname
26920382CV834917single nucleotide variantNM_001023.4(RPS20):c.226A>T (p.Thr76Ser)not provided [RCV001047460]uncertain significance85607322456073224Humanname
8633046CV88260single nucleotide variantNM_001023.4(RPS20):c.191C>T (p.Thr64Ile)Familial colorectal cancer type X [RCV005358241]|not provided [RCV005183665]uncertain significance|not provided85607325956073259Human1name
40888234CV969273single nucleotide variantNM_001023.4(RPS20):c.251T>G (p.Ile84Ser)Diamond-Blackfan anemia [RCV001267810]pathogenic85607319956073199Human2name
40888235CV969274single nucleotide variantNM_001023.4(RPS20):c.251T>A (p.Ile84Asn)Diamond-Blackfan anemia [RCV001267811]pathogenic85607319956073199Human2name
155715312CV1784910single nucleotide variantNM_001023.4(RPS20):c.308C>A (p.Ser103Tyr)not specified [RCV004048287]uncertain significance85607314256073142Humanname
155799399CV1859794single nucleotide variantNM_001023.4(RPS20):c.356C>G (p.Ala119Gly)not provided [RCV002571395]|not specified [RCV002466038]uncertain significance85607309456073094Humanname
401765043CV2733457deletionNM_001023.4(RPS20):c.32_33del (p.Val11fs)not specified [RCV004330385]uncertain significance85607413056074131Humanname
405008603CV2926919single nucleotide variantNM_001023.4(RPS20):c.333G>T (p.Glu111Asp)not provided [RCV003576540]uncertain significance85607311756073117Humanname
597786014CV3594347single nucleotide variantNM_001023.4(RPS20):c.346A>G (p.Ile116Val)not specified [RCV004854897]uncertain significance85607310456073104Humanname
597786020CV3594348single nucleotide variantNM_001023.4(RPS20):c.353A>G (p.Asp118Gly)not specified [RCV004854898]uncertain significance85607309756073097Humanname
597889134CV3856021single nucleotide variantNM_001023.4(RPS20):c.298C>T (p.Gln100Ter)not provided [RCV005200266]uncertain significance85607315256073152Humanname
598220282CV3903009single nucleotide variantNM_001023.4(RPS20):c.355G>T (p.Ala119Ser)not specified [RCV005272448]uncertain significance85607309556073095Humanname
126763860CV1008108insertionNM_001023.4(RPS20):c.25_26insTA (p.Thr9fs)not provided [RCV001319412]uncertain significance85607413756074138Humanname
155738022CV1831863deletionNM_001023.4(RPS20):c.181_182del (p.Leu61fs)not specified [RCV004059321]uncertain significance85607326856073269Humanname
405701441CV3392168microsatelliteNM_001023.4(RPS20):c.143_144del (p.Leu48fs)not specified [RCV004521047]uncertain significance85607372856073729Humanname
407513780CV3476202microsatelliteNM_001023.4(RPS20):c.136_140del (p.Lys46fs)not specified [RCV004674244]uncertain significance85607373256073736Humanname
597830198CV3746618deletionNM_001023.4(RPS20):c.137_140del (p.Lys46fs)not provided [RCV005061904]uncertain significance85607373256073735Humanname
126912305CV1037871single nucleotide variantNM_001146227.3(RPS20):c.410C>T (p.Pro137Leu)not provided [RCV001356380]uncertain significance85606975756069757Humanname
150497579CV1219429single nucleotide variantNM_001146227.3(RPS20):c.343T>C (p.Ser115Pro)Familial colorectal cancer type X [RCV005361685]|not provided [RCV001620098]|not specified [RCV002465895]benign85606982456069824Human1name
401795772CV2741328single nucleotide variantNM_001146227.3(RPS20):c.350A>T (p.Asp117Val)not specified [RCV003322491]uncertain significance85606981756069817Humanname
405275177CV3209111single nucleotide variantNM_001146227.3(RPS20):c.421C>G (p.Pro141Ala)RPS20-related disorder [RCV003934509]likely benign85606974656069746Humanname , trait , alternate_id
598121900CV3881624single nucleotide variantNM_001146227.3(RPS20):c.418T>C (p.Cys140Arg)not specified [RCV005232530]uncertain significance85606974956069749Humanname
598122257CV3888679single nucleotide variantNM_001146227.3(RPS20):c.419G>C (p.Cys140Ser)not provided [RCV005244853]uncertain significance85606974856069748Humanname
14706202CV637302deletionNM_001023.4(RPS20):c.138_140del (p.Lys46del)not provided [RCV000803228]uncertain significance85607373256073734Humanname
38481100CV934371deletionNM_001023.4(RPS20):c.283_285del (p.Ser95del)not provided [RCV001206688]uncertain significance85607316556073167Humanname
156385913CV1893920deletionNM_001023.4(RPS20):c.141_146del (p.Asn47_Leu48del)not provided [RCV003093683]uncertain significance85607372656073731Humanname