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45 records found for search term Klhl20
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401914441CV2830698single nucleotide variantNM_014458.4(KLHL20):c.26G>T (p.Cys9Phe)not provided [RCV003442436]uncertain significance1173733715173733715Humanname
9686994CV171307deletionNM_014458.4(KLHL20):c.257del (p.Leu86fs)Prostate cancer [RCV000149213]uncertain significance1173733943173733943Human2name
401741831CV2677446single nucleotide variantNM_014458.4(KLHL20):c.38G>T (p.Arg13Leu)not specified [RCV004289515]uncertain significance1173733727173733727Humanname
597639925CV3692338single nucleotide variantNM_014458.4(KLHL20):c.61G>A (p.Val21Ile)not specified [RCV004941442]uncertain significance1173733750173733750Humanname
156230841CV2199610single nucleotide variantNM_014458.4(KLHL20):c.242C>G (p.Ala81Gly)not specified [RCV004072357]uncertain significance1173733931173733931Humanname
597639931CV3692339single nucleotide variantNM_014458.4(KLHL20):c.194G>A (p.Arg65Gln)not specified [RCV004941443]uncertain significance1173733883173733883Humanname
15174198CV679031single nucleotide variantNM_014458.4(KLHL20):c.134A>T (p.Tyr45Phe)Esophageal atresia [RCV000984745]uncertain significance1173733823173733823Human1name
8575087CV109431single nucleotide variantNM_014458.3(KLHL20):c.899G>T (p.Arg300Leu)Lung cancer [RCV000089956]uncertain significance1173755970173755970Humanname
155717264CV1780585single nucleotide variantNM_014458.4(KLHL20):c.971G>A (p.Gly324Asp)not provided [RCV002306190]conflicting interpretations of pathogenicity|uncertain significance1173756979173756979Humanname
329953037CV2669746single nucleotide variantNM_014458.4(KLHL20):c.745C>A (p.Gln249Lys)not provided [RCV003234370]uncertain significance1173751911173751911Humanname
401721163CV2702291single nucleotide variantNM_014458.4(KLHL20):c.788G>C (p.Ser263Thr)not specified [RCV004314622]uncertain significance1173753244173753244Humanname
405808138CV3265780single nucleotide variantNM_014458.4(KLHL20):c.656C>T (p.Ser219Phe)not specified [RCV004406851]uncertain significance1173751822173751822Humanname
405808137CV3265781single nucleotide variantNM_014458.4(KLHL20):c.708G>T (p.Met236Ile)not specified [RCV004406852]uncertain significance1173751874173751874Humanname
407426811CV3411611single nucleotide variantNM_014458.4(KLHL20):c.500C>T (p.Pro167Leu)not provided [RCV004590789]uncertain significance1173734189173734189Humanname
408369963CV3502924single nucleotide variantNM_014458.4(KLHL20):c.890C>T (p.Pro297Leu)not provided [RCV004724045]uncertain significance1173755961173755961Humanname
597768699CV3692341single nucleotide variantNM_014458.4(KLHL20):c.335G>A (p.Arg112Gln)not specified [RCV004927545]uncertain significance1173734024173734024Humanname
597639956CV3692346single nucleotide variantNM_014458.4(KLHL20):c.605A>G (p.Glu202Gly)not specified [RCV004941447]uncertain significance1173751771173751771Humanname
598201297CV3892768single nucleotide variantNM_014458.4(KLHL20):c.346G>C (p.Glu116Gln)not provided [RCV005254601]uncertain significance1173734035173734035Humanname
598161487CV3987304single nucleotide variantNM_014458.4(KLHL20):c.346G>A (p.Glu116Lys)not specified [RCV005368444]uncertain significance1173734035173734035Humanname
598182729CV3987306single nucleotide variantNM_014458.4(KLHL20):c.319A>G (p.Thr107Ala)not specified [RCV005352782]uncertain significance1173734008173734008Humanname
616936224CV4016247single nucleotide variantNM_014458.4(KLHL20):c.580C>G (p.Gln194Glu)not provided [RCV005415113]uncertain significance1173734269173734269Humanname
155715030CV1780362single nucleotide variantNM_014458.4(KLHL20):c.1355G>A (p.Gly452Asp)not provided [RCV002305966]uncertain significance1173774364173774364Humanname
155716585CV1780509single nucleotide variantNM_014458.4(KLHL20):c.1756G>A (p.Gly586Arg)not provided [RCV002306114]uncertain significance1173785173173785173Humanname
155798721CV1860770single nucleotide variantNM_014458.4(KLHL20):c.1100T>C (p.Leu367Ser)See cases [RCV002467413]uncertain significance1173757108173757108Humanname
156239682CV2269224single nucleotide variantNM_014458.4(KLHL20):c.1801A>G (p.Met601Val)not specified [RCV004130375]uncertain significance1173785218173785218Humanname
155932357CV2290630single nucleotide variantNM_014458.4(KLHL20):c.1477A>G (p.Met493Val)not specified [RCV004149166]uncertain significance1173775681173775681Humanname
156149563CV2318551single nucleotide variantNM_014458.4(KLHL20):c.1242T>G (p.Phe414Leu)not specified [RCV004173459]uncertain significance1173766236173766236Humanname
405808028CV3265778single nucleotide variantNM_014458.4(KLHL20):c.1231C>G (p.Leu411Val)not specified [RCV004406849]uncertain significance1173766225173766225Humanname
405808140CV3265779single nucleotide variantNM_014458.4(KLHL20):c.1340G>A (p.Ser447Asn)not specified [RCV004406850]uncertain significance1173774349173774349Humanname
408368881CV3502683single nucleotide variantNM_014458.4(KLHL20):c.1211C>G (p.Thr404Arg)not provided [RCV004723804]uncertain significance1173766205173766205Humanname
408389886CV3519118single nucleotide variantNM_014458.4(KLHL20):c.1547A>T (p.Asp516Val)not provided [RCV004762427]uncertain significance1173775751173775751Humanname
408385364CV3520159single nucleotide variantNM_014458.4(KLHL20):c.1699T>G (p.Tyr567Asp)not provided [RCV004759980]uncertain significance1173782184173782184Humanname
597639937CV3692340single nucleotide variantNM_014458.4(KLHL20):c.1454A>G (p.Asn485Ser)not specified [RCV004941444]uncertain significance1173775658173775658Humanname
597639944CV3692343single nucleotide variantNM_014458.4(KLHL20):c.1826G>T (p.Trp609Leu)not specified [RCV004941445]uncertain significance1173785243173785243Humanname
597768704CV3692344single nucleotide variantNM_014458.4(KLHL20):c.1658A>G (p.Asn553Ser)not specified [RCV004927546]uncertain significance1173782143173782143Humanname
597639950CV3692345single nucleotide variantNM_014458.4(KLHL20):c.1324C>T (p.Arg442Trp)not specified [RCV004941446]uncertain significance1173774333173774333Humanname
597639962CV3692347single nucleotide variantNM_014458.4(KLHL20):c.1219G>C (p.Gly407Arg)not specified [RCV004941448]likely pathogenic|uncertain significance1173766213173766213Humanname
597845986CV3880546single nucleotide variantNM_014458.4(KLHL20):c.1403C>T (p.Ser468Phe)not provided [RCV005227434]uncertain significance1173774412173774412Humanname
598223336CV3892168single nucleotide variantNM_014458.4(KLHL20):c.1066T>C (p.Cys356Arg)KLHL20-related disorder [RCV005253507]uncertain significance1173757074173757074Humanname , trait
598161475CV3987302single nucleotide variantNM_014458.4(KLHL20):c.1468A>G (p.Ile490Val)not specified [RCV005368442]uncertain significance1173775672173775672Humanname
598161480CV3987303single nucleotide variantNM_014458.4(KLHL20):c.1430T>C (p.Val477Ala)not specified [RCV005368443]uncertain significance1173775634173775634Humanname
598161492CV3987305single nucleotide variantNM_014458.4(KLHL20):c.1456A>G (p.Arg486Gly)not specified [RCV005368445]uncertain significance1173775660173775660Humanname
598161497CV3987307single nucleotide variantNM_014458.4(KLHL20):c.1313A>G (p.Asn438Ser)not specified [RCV005368446]uncertain significance1173774322173774322Humanname
26896496CV857425single nucleotide variantNM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)Intellectual disability [RCV001078229]|KLHL20-related disorder [RCV005253717]|Neurodevelopmental disorder [RCV001375006]|See cases [RCV004797901]|not provided [RCV002221607]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity1173757077173757077Human3name , trait
596924571CV3532311indelNM_014458.4(KLHL20):c.1630_1634delinsGGTAT (p.Arg544_Ser545delinsGlyIle)not provided [RCV004777422]uncertain significance1173775834173775838Humanname