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77 records found for search term Adarb1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405290864CV3197196deletionNM_001112.4(ADARB1):c.1079-4delADARB1-related disorder [RCV003984759]likely benign214518256945182569Humanname , trait , alternate_id
401920206CV2821847single nucleotide variantNM_001112.4(ADARB1):c.-48+6170C>Gnot provided [RCV003431576]likely benign214513474345134743Humanname
38597469CV965292single nucleotide variantNM_001112.4(ADARB1):c.1397-354A>GNeurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003142227]|Syndromic intellectual disability [RCV001254728]uncertain significance214518456945184569Human2name
243050841CV2417652deletionNM_001112.4(ADARB1):c.1245_1247+1delNeurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003152523]pathogenic214518275145182754Human1name
155920820CV2210895duplicationNM_001112.4(ADARB1):c.1079-5_1079-4dupInborn genetic diseases [RCV002682834]uncertain significance214518256845182569Human1name
152102421CV1667256single nucleotide variantNM_001112.4(ADARB1):c.456C>T (p.His152=)not provided [RCV002214242]likely benign214517615745176157Humanname
329353857CV2439860single nucleotide variantNM_001112.4(ADARB1):c.59G>A (p.Arg20His)Inborn genetic diseases [RCV003201650]uncertain significance214517576045175760Human1name
401920208CV2821848single nucleotide variantNM_001112.4(ADARB1):c.723C>T (p.Asn241=)not provided [RCV003431577]likely benign214517642445176424Humanname
401920210CV2821849single nucleotide variantNM_001112.4(ADARB1):c.759C>T (p.Ser253=)not provided [RCV003431578]likely benign214517646045176460Humanname
401920212CV2821850single nucleotide variantNM_001112.4(ADARB1):c.843G>A (p.Lys281=)not provided [RCV003431579]likely benign214517654445176544Humanname
15154704CV717259single nucleotide variantNM_001112.4(ADARB1):c.309C>T (p.Pro103=)not provided [RCV000968787]benign214517601045176010Humanname
15148780CV728964single nucleotide variantNM_001112.4(ADARB1):c.486C>T (p.Asn162=)not provided [RCV000879026]likely benign214517618745176187Humanname
150404589CV1179014single nucleotide variantNM_001112.4(ADARB1):c.1962G>A (p.Lys654=)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001548967]|not provided [RCV004714274]benign214522205345222053Human1name
155797391CV1860353single nucleotide variantNM_001112.4(ADARB1):c.139G>C (p.Gly47Arg)not provided [RCV002466995]uncertain significance214517584045175840Humanname
156244303CV2283337single nucleotide variantNM_001112.4(ADARB1):c.233T>G (p.Leu78Arg)Inborn genetic diseases [RCV002854436]uncertain significance214517593445175934Human1name
243063203CV2414550single nucleotide variantNM_001112.4(ADARB1):c.196C>T (p.Arg66Cys)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003141203]uncertain significance214517589745175897Human1name
401920214CV2821851single nucleotide variantNM_001112.4(ADARB1):c.1074A>G (p.Thr358=)not provided [RCV003431580]likely benign214518044045180440Humanname
401920217CV2821852single nucleotide variantNM_001112.4(ADARB1):c.1719C>G (p.Leu573=)not provided [RCV003431581]likely benign214520470845204708Humanname
405871692CV3398019single nucleotide variantNM_001112.4(ADARB1):c.1656C>T (p.His552=)not provided [RCV004575019]likely benign214520464545204645Humanname
407451671CV3423104single nucleotide variantNM_001112.4(ADARB1):c.134G>A (p.Gly45Asp)Inborn genetic diseases [RCV004608134]uncertain significance214517583545175835Human1name
598255963CV3940580single nucleotide variantNM_001112.4(ADARB1):c.197G>A (p.Arg66His)Inborn genetic diseases [RCV005324033]uncertain significance214517589845175898Human1name
617149509CV4021387single nucleotide variantNM_001112.4(ADARB1):c.1629G>A (p.Ser543=)not provided [RCV005425356]likely benign214520461845204618Humanname
15136689CV717260single nucleotide variantNM_001112.4(ADARB1):c.2091C>T (p.Phe697=)not provided [RCV000965493]benign214522218245222182Humanname
8637552CV92778single nucleotide variantNM_001112.3(ADARB1):c.1389C>T (p.Ile463=)Malignant melanoma [RCV000072876]not provided214518350345183503Humanname
156019708CV2272670single nucleotide variantNM_001112.4(ADARB1):c.985C>T (p.Arg329Cys)Inborn genetic diseases [RCV002844500]uncertain significance214518035145180351Human1name
155939247CV2376629single nucleotide variantNM_001112.4(ADARB1):c.488C>G (p.Thr163Arg)Inborn genetic diseases [RCV002729940]uncertain significance214517618945176189Human1name
243063207CV2414549single nucleotide variantNM_001112.4(ADARB1):c.713T>C (p.Met238Thr)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003141202]uncertain significance214517641445176414Human1name
329399234CV2470002single nucleotide variantNM_001112.4(ADARB1):c.766G>A (p.Gly256Arg)Inborn genetic diseases [RCV003220830]uncertain significance214517646745176467Human1name
329952888CV2670230single nucleotide variantNM_001112.4(ADARB1):c.730C>G (p.Arg244Gly)not provided [RCV003233440]uncertain significance214517643145176431Humanname
401753179CV2725222single nucleotide variantNM_001112.4(ADARB1):c.830C>T (p.Ser277Leu)Inborn genetic diseases [RCV003277606]uncertain significance214517653145176531Human1name
401889698CV2758391single nucleotide variantNM_001112.4(ADARB1):c.524C>T (p.Thr175Met)Inborn genetic diseases [RCV003368561]uncertain significance214517622545176225Human1name
405689934CV3246531single nucleotide variantNM_001112.4(ADARB1):c.610G>T (p.Gly204Trp)Inborn genetic diseases [RCV004373101]uncertain significance214517631145176311Human1name
407451697CV3423110single nucleotide variantNM_001112.4(ADARB1):c.724G>A (p.Glu242Lys)Inborn genetic diseases [RCV004608140]uncertain significance214517642545176425Human1name
407451730CV3423121single nucleotide variantNM_001112.4(ADARB1):c.731G>A (p.Arg244His)Inborn genetic diseases [RCV004608151]uncertain significance214517643245176432Human1name
408368273CV3500560single nucleotide variantNM_001112.4(ADARB1):c.827G>T (p.Gly276Val)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV004723686]uncertain significance214517652845176528Human1name
596929574CV3531090deletionNM_001112.4(ADARB1):c.1827del (p.Ile609fs)not provided [RCV004779664]uncertain significance214522091445220914Humanname
597647237CV3660302single nucleotide variantNM_001112.4(ADARB1):c.860G>T (p.Arg287Leu)Inborn genetic diseases [RCV004973965]uncertain significance214517656145176561Human1name
597647247CV3660322single nucleotide variantNM_001112.4(ADARB1):c.860G>A (p.Arg287Gln)Inborn genetic diseases [RCV004973967]uncertain significance214517656145176561Human1name
598255960CV3940579single nucleotide variantNM_001112.4(ADARB1):c.913C>G (p.Pro305Ala)Inborn genetic diseases [RCV005324032]uncertain significance214517661445176614Human1name
598255965CV3940581single nucleotide variantNM_001112.4(ADARB1):c.457C>G (p.Leu153Val)Inborn genetic diseases [RCV005324034]uncertain significance214517615845176158Human1name
598255969CV3940583single nucleotide variantNM_001112.4(ADARB1):c.331A>G (p.Met111Val)Inborn genetic diseases [RCV005324036]uncertain significance214517603245176032Human1name
8628632CV83776single nucleotide variantNM_001112.3(ADARB1):c.931C>T (p.Pro311Ser)Malignant melanoma [RCV000063857]not provided214517663245176632Humanname
26903847CV858619single nucleotide variantNM_001112.4(ADARB1):c.379A>G (p.Lys127Glu)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001090011]pathogenic214517608045176080Human1name
40815535CV971156duplicationNM_001112.4(ADARB1):c.1299dup (p.Phe434fs)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001262982]uncertain significance214518340745183408Human1name
10449901CV215593single nucleotide variantNM_001112.4(ADARB1):c.1582A>G (p.Ile528Val)not provided [RCV001531971]|not specified [RCV000203084]likely benign|uncertain significance214520457145204571Humanname
155963347CV2197855single nucleotide variantNM_001112.4(ADARB1):c.1825A>G (p.Ile609Val)Inborn genetic diseases [RCV002686829]uncertain significance214522091345220913Human1name
156239630CV2285984single nucleotide variantNM_001112.4(ADARB1):c.1969G>A (p.Val657Met)Inborn genetic diseases [RCV002854160]likely benign214522206045222060Human1name
156286184CV2289136single nucleotide variantNM_001112.4(ADARB1):c.1564C>T (p.Arg522Cys)Inborn genetic diseases [RCV002878518]uncertain significance214518509045185090Human1name
156199414CV2293794single nucleotide variantNM_001112.4(ADARB1):c.1657G>A (p.Gly553Arg)Inborn genetic diseases [RCV002874730]|Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV005254728]uncertain significance214520464645204646Human2name
156265137CV2312181single nucleotide variantNM_001112.4(ADARB1):c.1822G>A (p.Ala608Thr)Inborn genetic diseases [RCV002920753]uncertain significance214522091045220910Human1name
155922874CV2347399single nucleotide variantNM_001112.4(ADARB1):c.1481G>A (p.Arg494His)Inborn genetic diseases [RCV002992203]uncertain significance214518500745185007Human1name
156278741CV2348258single nucleotide variantNM_001112.4(ADARB1):c.1253A>G (p.Lys418Arg)Inborn genetic diseases [RCV002989239]uncertain significance214518336745183367Human1name
156240018CV2350311single nucleotide variantNM_001112.4(ADARB1):c.2021G>A (p.Arg674His)Inborn genetic diseases [RCV002987315]uncertain significance214522211245222112Human1name
243063924CV2405453single nucleotide variantNM_001112.4(ADARB1):c.1573G>A (p.Val525Met)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003142532]uncertain significance214520456245204562Human1name
243050927CV2417651single nucleotide variantNM_001112.4(ADARB1):c.1769G>A (p.Arg590Gln)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003152522]pathogenic214522085745220857Human1name
329384998CV2454555single nucleotide variantNM_001112.4(ADARB1):c.1457C>T (p.Ser486Phe)Inborn genetic diseases [RCV003214277]uncertain significance214518498345184983Human1name
401887956CV2768898single nucleotide variantNM_001112.4(ADARB1):c.1102G>T (p.Val368Leu)Inborn genetic diseases [RCV003352670]uncertain significance214518260845182608Human1name
401890514CV2778818single nucleotide variantNM_001112.4(ADARB1):c.1868G>A (p.Arg623His)Inborn genetic diseases [RCV003368975]uncertain significance214522095645220956Human1name
405689856CV3246517single nucleotide variantNM_001112.4(ADARB1):c.1987C>G (p.Leu663Val)Inborn genetic diseases [RCV004373087]uncertain significance214522207845222078Human1name
407451682CV3423107single nucleotide variantNM_001112.4(ADARB1):c.1204T>G (p.Ser402Ala)Inborn genetic diseases [RCV004608137]uncertain significance214518271045182710Human1name
407451710CV3423114single nucleotide variantNM_001112.4(ADARB1):c.1273A>G (p.Ile425Val)Inborn genetic diseases [RCV004608144]uncertain significance214518338745183387Human1name
407451744CV3423127single nucleotide variantNM_001112.4(ADARB1):c.1178G>C (p.Cys393Ser)Inborn genetic diseases [RCV004608157]uncertain significance214518268445182684Human1name
407574627CV3499638single nucleotide variantNM_001112.4(ADARB1):c.1847C>A (p.Thr616Asn)not provided [RCV004720131]uncertain significance214522093545220935Humanname
408389553CV3529453single nucleotide variantNM_001112.4(ADARB1):c.1628C>T (p.Ser543Leu)not provided [RCV004774275]uncertain significance214520461745204617Humanname
596926590CV3539854single nucleotide variantNM_001112.4(ADARB1):c.1034C>T (p.Pro345Leu)not provided [RCV004790845]uncertain significance214518040045180400Humanname
597647224CV3660279single nucleotide variantNM_001112.4(ADARB1):c.1898A>G (p.Tyr633Cys)Inborn genetic diseases [RCV004973963]uncertain significance214522098645220986Human1name
597647231CV3660291single nucleotide variantNM_001112.4(ADARB1):c.1489G>A (p.Ala497Thr)Inborn genetic diseases [RCV004973964]uncertain significance214518501545185015Human1name
597647240CV3660313single nucleotide variantNM_001112.4(ADARB1):c.2077G>A (p.Glu693Lys)Inborn genetic diseases [RCV004973966]uncertain significance214522216845222168Human1name
598216402CV3891420single nucleotide variantNM_001112.4(ADARB1):c.1442G>A (p.Arg481Gln)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV005252262]uncertain significance214518496845184968Human1name
598255971CV3940584single nucleotide variantNM_001112.4(ADARB1):c.1400C>T (p.Pro467Leu)Inborn genetic diseases [RCV005324037]uncertain significance214518492645184926Human1name
598255975CV3940586single nucleotide variantNM_001112.4(ADARB1):c.1511G>A (p.Gly504Glu)Inborn genetic diseases [RCV005324039]uncertain significance214518503745185037Human1name
26903845CV858617single nucleotide variantNM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001090009]|Syndromic intellectual disability [RCV001254727]pathogenic|uncertain significance214518260745182607Human2name
26903846CV858618single nucleotide variantNM_001112.4(ADARB1):c.1492A>G (p.Ser498Gly)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001090010]pathogenic214518501845185018Human1name
26903848CV858620single nucleotide variantNM_001112.4(ADARB1):c.1688G>A (p.Arg563Gln)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001090012]pathogenic214520467745204677Human1name
26903850CV858621single nucleotide variantNM_001112.4(ADARB1):c.2045C>T (p.Ala682Val)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV001090013]pathogenic214522213645222136Human1name
39456359CV965446single nucleotide variantNM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser)Microcephaly [RCV001254918]benign214522208445222084Human2name
243062545CV2405018deletionNM_001112.4(ADARB1):c.409_411del (p.Lys137del)Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [RCV003140568]uncertain significance214517610845176110Human1name