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300 records found for search term Pde3a
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405275870CV3199523single nucleotide variantNM_000921.5(PDE3A):c.-6T>GPDE3A-related disorder [RCV003916922]benign122036927920369279Humanname , trait , alternate_id
150450192CV1232649microsatelliteNM_000921.5(PDE3A):c.-93TG[8]not provided [RCV001647724]benign122036919120369194Humanname
150446906CV1261434microsatelliteNM_000921.5(PDE3A):c.-93TG[11]not provided [RCV001680108]benign122036919020369191Humanname
156021612CV2040681single nucleotide variantNM_000921.5(PDE3A):c.960+20C>Tnot provided [RCV002795613]likely benign122037026420370264Humanname
402525257CV2868522single nucleotide variantNM_000921.5(PDE3A):c.2366-7T>Anot provided [RCV003548060]likely benign122064674420646744Humanname
402484395CV2944879single nucleotide variantNM_000921.5(PDE3A):c.2139+9T>Cnot provided [RCV003659936]likely benign122063724620637246Humanname
408379981CV3508161single nucleotide variantNM_000921.5(PDE3A):c.2769+6T>GPDE3A-related disorder [RCV004753803]likely benign122064889720648897Humanname , trait , alternate_id
597972435CV3790277single nucleotide variantNM_000921.5(PDE3A):c.1540+1G>Anot provided [RCV005142700]uncertain significance122062141220621412Humanname
15119105CV776021single nucleotide variantNM_000921.5(PDE3A):c.2002-8C>TPDE3A-related disorder [RCV003933207]|not provided [RCV000940126]benign|likely benign122063709220637092Human1name , trait , alternate_id
15107846CV779773single nucleotide variantNM_000921.5(PDE3A):c.2565+4A>Gnot provided [RCV000960373]likely benign122064695420646954Humanname
150334307CV1172390duplicationNM_000921.5(PDE3A):c.960+155dupnot provided [RCV001539966]benign122037038920370390Humanname
150333060CV1172391single nucleotide variantNM_000921.5(PDE3A):c.1760+38A>CBrachydactyly-arterial hypertension syndrome [RCV001788588]|not provided [RCV001539297]benign122063016520630165Human1name
150516350CV1216817single nucleotide variantNM_000921.5(PDE3A):c.1760+39C>Tnot provided [RCV001608719]benign122063016620630166Humanname
150469681CV1219114single nucleotide variantNM_000921.5(PDE3A):c.2770-56A>Cnot provided [RCV001614866]benign122065038920650389Humanname
150494442CV1224900duplicationNM_000921.5(PDE3A):c.2769+52dupnot provided [RCV001619378]benign122064892720648928Humanname
150514028CV1228019single nucleotide variantNM_000921.5(PDE3A):c.960+166T>Gnot provided [RCV001638297]benign122037041020370410Humanname
150450853CV1232727single nucleotide variantNM_000921.5(PDE3A):c.1011+89G>Anot provided [RCV001647802]benign122055679920556799Humanname
150444720CV1233057single nucleotide variantNM_000921.5(PDE3A):c.2925+15T>CBrachydactyly-arterial hypertension syndrome [RCV001788670]|not provided [RCV001645730]benign122065061520650615Human1name
150463837CV1237690single nucleotide variantNM_000921.5(PDE3A):c.1269+51G>Cnot provided [RCV001649696]benign122061375120613751Humanname
150437552CV1249888single nucleotide variantNM_000921.5(PDE3A):c.960+167T>Gnot provided [RCV001665802]benign122037041120370411Humanname
150497765CV1256764single nucleotide variantNM_000921.5(PDE3A):c.1846+95T>Gnot provided [RCV001676256]benign122063387320633873Humanname
150468570CV1257070single nucleotide variantNM_000921.5(PDE3A):c.960+165G>Tnot provided [RCV001670716]benign122037040920370409Humanname
150506279CV1257299single nucleotide variantNM_000921.5(PDE3A):c.2769+30C>TBrachydactyly-arterial hypertension syndrome [RCV001788746]|not provided [RCV001678137]benign122064892120648921Human1name
150441602CV1265583single nucleotide variantNM_000921.5(PDE3A):c.1846+75T>Cnot provided [RCV001679287]benign122063385320633853Humanname
150465353CV1268595deletionNM_000921.5(PDE3A):c.960+165delnot provided [RCV001694291]benign122037040920370409Humanname
152058696CV1535949single nucleotide variantNM_000921.5(PDE3A):c.2769+16C>Tnot provided [RCV002146530]benign122064890720648907Humanname
152042523CV1618065single nucleotide variantNM_000921.5(PDE3A):c.2140-19G>Tnot provided [RCV002206535]benign122063982720639827Humanname
401918758CV2794668single nucleotide variantNM_000921.5(PDE3A):c.2139+12A>Gnot specified [RCV003388342]likely benign122063724920637249Humanname
405011146CV2933681single nucleotide variantNM_000921.5(PDE3A):c.2565+13A>Cnot provided [RCV003576743]likely benign122064696320646963Humanname
597895452CV3744170single nucleotide variantNM_000921.5(PDE3A):c.1847-20T>Cnot provided [RCV005071640]likely benign122063488220634882Humanname
597959346CV3752281single nucleotide variantNM_000921.5(PDE3A):c.2139+16A>Tnot provided [RCV005081231]likely benign122063725320637253Humanname
150513119CV1211823single nucleotide variantNM_000921.5(PDE3A):c.2565+136C>Tnot provided [RCV001598344]benign122064708620647086Humanname
150443860CV1216550single nucleotide variantNM_000921.5(PDE3A):c.2769+214T>Gnot provided [RCV001610849]benign122064910520649105Humanname
150491297CV1222733single nucleotide variantNM_000921.5(PDE3A):c.1846+110C>Tnot provided [RCV001618795]benign122063388820633888Human3name
150491297CV1222733single nucleotide variantNM_000921.5(PDE3A):c.1846+110C>Tnot provided [RCV001618795]benign122063388820633889Human3name
150504380CV1223938microsatelliteNM_000921.5(PDE3A):c.-103CGTG[4]not provided [RCV001621587]benign122036918020369181Humanname
150491489CV1225311single nucleotide variantNM_000921.5(PDE3A):c.3184+218G>Anot provided [RCV001618826]benign122065442320654423Humanname
150515547CV1227593single nucleotide variantNM_000921.5(PDE3A):c.1846+168C>Tnot provided [RCV001638867]benign122063394620633946Humanname
150513272CV1228953single nucleotide variantNM_000921.5(PDE3A):c.1540+119A>Gnot provided [RCV001637795]benign122062153020621530Humanname
150472420CV1236337single nucleotide variantNM_000921.5(PDE3A):c.1540+194A>Gnot provided [RCV001651422]benign122062160520621605Humanname
150489299CV1237631single nucleotide variantNM_000921.5(PDE3A):c.1269+257G>Anot provided [RCV001654480]benign122061395720613957Humanname
150480532CV1239598duplicationNM_000921.5(PDE3A):c.2925+228dupnot provided [RCV001652761]benign122065082320650824Humanname
150510043CV1248484single nucleotide variantNM_000921.5(PDE3A):c.2566-188T>Gnot provided [RCV001659552]benign122064850020648500Humanname
150457175CV1248750single nucleotide variantNM_000921.5(PDE3A):c.2770-113G>Anot provided [RCV001668926]benign122065033220650332Humanname
150469145CV1249047single nucleotide variantNM_000921.5(PDE3A):c.3184+314C>Gnot provided [RCV001670808]benign122065451920654519Humanname
150447215CV1250794single nucleotide variantNM_000921.5(PDE3A):c.2251+104G>Anot provided [RCV001667299]benign122064006120640061Humanname
150458276CV1259018single nucleotide variantNM_000921.5(PDE3A):c.1425-145A>Gnot provided [RCV001681737]benign122062115120621151Humanname
150451846CV1260311single nucleotide variantNM_000921.5(PDE3A):c.2926-158A>Gnot provided [RCV001680801]benign122065378920653789Humanname
150444491CV1278002single nucleotide variantNM_000921.5(PDE3A):c.3185-108T>Cnot provided [RCV001707145]benign122067992220679922Humanname
150503680CV1285805single nucleotide variantNM_000921.5(PDE3A):c.1846+129T>Cnot provided [RCV001719228]benign122063390720633907Humanname
150503818CV1285833single nucleotide variantNM_000921.5(PDE3A):c.2139+187G>Anot provided [RCV001719256]benign122063742420637424Humanname
150503875CV1285844single nucleotide variantNM_000921.5(PDE3A):c.1270-176C>Tnot provided [RCV001719267]benign122061605420616054Humanname
8653802CV130377single nucleotide variantNM_000921.4(PDE3A):c.961-46114G>ALung cancer [RCV000110864]uncertain significance122051054620510546Humanname
8653803CV130378single nucleotide variantNM_000921.4(PDE3A):c.961-35559T>CLung cancer [RCV000110865]uncertain significance122052110120521101Humanname
8653804CV130379single nucleotide variantNM_000921.4(PDE3A):c.961-22350G>TLung cancer [RCV000110866]uncertain significance122053431020534310Humanname
8653805CV130380single nucleotide variantNM_000921.4(PDE3A):c.3185-5457T>CLung cancer [RCV000110867]uncertain significance122067457320674573Humanname
401929297CV2806783single nucleotide variantNM_000921.5(PDE3A):c.3185-1606G>Anot provided [RCV003390189]benign122067842420678424Humanname
150433805CV1230630single nucleotide variantNM_000921.5(PDE3A):c.1011+15147G>Cnot provided [RCV001643576]benign122057185720571857Humanname
150492623CV1268281single nucleotide variantNM_000921.5(PDE3A):c.1011+15344G>Anot provided [RCV001688013]benign122057205420572054Humanname
155984283CV1883854single nucleotide variantNM_000921.5(PDE3A):c.24A>G (p.Ala8=)PDE3A-related disorder [RCV003943768]|not provided [RCV003075812]benign122036930820369308Human1name , trait , alternate_id
156039759CV2043972single nucleotide variantNM_000921.5(PDE3A):c.5C>T (p.Ala2Val)not provided [RCV002781446]uncertain significance122036928920369289Humanname
156105010CV2096376single nucleotide variantNM_000921.5(PDE3A):c.246C>T (p.Arg82=)not provided [RCV002913549]likely benign122036953020369530Humanname
405199590CV2877038single nucleotide variantNM_000921.5(PDE3A):c.285G>A (p.Ala95=)not provided [RCV003551253]benign122036956920369569Humanname
405775795CV3375203single nucleotide variantNM_000921.5(PDE3A):c.25C>G (p.Arg9Gly)Inborn genetic diseases [RCV004503079]uncertain significance122036930920369309Human1name
597926259CV3840665single nucleotide variantNM_000921.5(PDE3A):c.102C>T (p.Asp34=)not provided [RCV005185136]likely benign122036938620369386Humanname
15197309CV725032single nucleotide variantNM_000921.5(PDE3A):c.231G>A (p.Leu77=)not provided [RCV000890021]benign122036951520369515Humanname
150514031CV1210824single nucleotide variantNM_000921.5(PDE3A):c.34G>A (p.Asp12Asn)not provided [RCV001598865]benign122036931820369318Humanname
152055303CV1590863single nucleotide variantNM_000921.5(PDE3A):c.402G>T (p.Ala134=)not provided [RCV002109463]benign|likely benign122036968620369686Humanname
156021987CV1899328single nucleotide variantNM_000921.5(PDE3A):c.465G>A (p.Val155=)not provided [RCV003100243]likely benign122036974920369749Humanname
156023450CV1899572single nucleotide variantNM_000921.5(PDE3A):c.585C>T (p.Leu195=)not provided [RCV003100311]likely benign122036986920369869Humanname
156328367CV1956572single nucleotide variantNM_000921.5(PDE3A):c.876C>T (p.Ser292=)not provided [RCV002579854]likely benign122037016020370160Humanname
156282186CV1964427deletionNM_000921.5(PDE3A):c.1425-19_1425-16delnot provided [RCV002577514]likely benign122062127420621277Humanname
156142742CV2106151single nucleotide variantNM_000921.5(PDE3A):c.459C>T (p.Ala153=)not provided [RCV002928614]likely benign122036974320369743Humanname
156100820CV2117174single nucleotide variantNM_000921.5(PDE3A):c.633C>T (p.Gly211=)not provided [RCV002952734]benign122036991720369917Humanname
243057843CV2405935single nucleotide variantNM_000921.5(PDE3A):c.507G>T (p.Gly169=)Brachydactyly-arterial hypertension syndrome [RCV003134777]uncertain significance122036979120369791Human1name
329393619CV2472004single nucleotide variantNM_000921.5(PDE3A):c.91C>T (p.His31Tyr)Inborn genetic diseases [RCV003218376]uncertain significance122036937520369375Human1name
401723708CV2675050single nucleotide variantNM_000921.5(PDE3A):c.46C>T (p.His16Tyr)Inborn genetic diseases [RCV003245256]uncertain significance122036933020369330Human1name
401745963CV2695474single nucleotide variantNM_000921.5(PDE3A):c.80G>A (p.Arg27Gln)Inborn genetic diseases [RCV003275608]uncertain significance122036936420369364Human1name
401737925CV2714256single nucleotide variantNM_000921.5(PDE3A):c.77G>A (p.Gly26Asp)Inborn genetic diseases [RCV003273567]uncertain significance122036936120369361Human1name
405236513CV2884646single nucleotide variantNM_000921.5(PDE3A):c.73G>A (p.Ala25Thr)not provided [RCV003556511]uncertain significance122036935720369357Humanname
405132570CV3051084single nucleotide variantNM_000921.5(PDE3A):c.381C>T (p.Ser127=)not provided [RCV003724834]likely benign122036966520369665Humanname
405126954CV3053623single nucleotide variantNM_000921.5(PDE3A):c.507G>C (p.Gly169=)PDE3A-related disorder [RCV003939159]|not provided [RCV003724463]benign|likely benign122036979120369791Human1name , trait , alternate_id
405194449CV3167659single nucleotide variantNM_000921.5(PDE3A):c.324A>G (p.Glu108=)not provided [RCV003860065]likely benign122036960820369608Humanname
597703334CV3713971single nucleotide variantNM_000921.5(PDE3A):c.94C>A (p.Arg32Ser)Brachydactyly-arterial hypertension syndrome [RCV005008994]uncertain significance122036937820369378Human1name
597831522CV3759777single nucleotide variantNM_000921.5(PDE3A):c.490C>T (p.Leu164=)not provided [RCV005084715]likely benign122036977420369774Humanname
597974476CV3801806single nucleotide variantNM_000921.5(PDE3A):c.40C>T (p.Pro14Ser)not provided [RCV005143795]uncertain significance122036932420369324Humanname
597861573CV3822526single nucleotide variantNM_000921.5(PDE3A):c.475C>T (p.Leu159=)not provided [RCV005175056]likely benign122036975920369759Humanname
597954207CV3844367single nucleotide variantNM_000921.5(PDE3A):c.388C>T (p.Leu130=)not provided [RCV005191040]likely benign122036967220369672Humanname
598209032CV4007814single nucleotide variantNM_000921.5(PDE3A):c.41C>A (p.Pro14His)Brachydactyly-arterial hypertension syndrome [RCV005400128]uncertain significance122036932520369325Human1name
15172855CV713471single nucleotide variantNM_000921.5(PDE3A):c.660G>T (p.Ala220=)PDE3A-related disorder [RCV003943220]|not provided [RCV000972496]benign122036994420369944Human1name , trait , alternate_id
15197511CV725033single nucleotide variantNM_000921.5(PDE3A):c.318A>G (p.Gly106=)not provided [RCV000890078]benign122036960220369602Humanname
15103664CV753291single nucleotide variantNM_000921.5(PDE3A):c.732C>T (p.Ala244=)not provided [RCV000915207]likely benign122037001620370016Humanname
15112495CV784352single nucleotide variantNM_000921.5(PDE3A):c.519C>A (p.Leu173=)not provided [RCV000977830]likely benign122036980320369803Humanname
15120053CV784353single nucleotide variantNM_000921.5(PDE3A):c.792G>A (p.Glu264=)not provided [RCV000979223]likely benign122037007620370076Humanname
150475654CV1216697single nucleotide variantNM_000921.5(PDE3A):c.1194C>T (p.Val398=)Brachydactyly-arterial hypertension syndrome [RCV001788608]|not provided [RCV001615990]benign122061362520613625Human1name
151775482CV1402585single nucleotide variantNM_000921.5(PDE3A):c.293C>G (p.Ala98Gly)not provided [RCV001929937]uncertain significance122036957720369577Humanname
151749366CV1460532single nucleotide variantNM_000921.5(PDE3A):c.141G>A (p.Trp47Ter)not provided [RCV001894170]uncertain significance122036942520369425Humanname
151876408CV1484312duplicationNM_000921.5(PDE3A):c.511dup (p.Glu171fs)not provided [RCV001981955]uncertain significance122036978820369789Humanname
152165720CV1536778single nucleotide variantNM_000921.5(PDE3A):c.2508C>T (p.His836=)not provided [RCV002160504]likely benign122064689320646893Humanname
152165071CV1611260single nucleotide variantNM_000921.5(PDE3A):c.2073T>C (p.Thr691=)not provided [RCV002141648]likely benign122063717120637171Humanname
152125736CV1630289single nucleotide variantNM_000921.5(PDE3A):c.1080C>G (p.Leu360=)not provided [RCV002154846]likely benign122061351120613511Humanname
152112673CV1640641single nucleotide variantNM_000921.5(PDE3A):c.2580C>T (p.Asn860=)not provided [RCV002174531]benign122064870220648702Humanname
156251412CV1887179single nucleotide variantNM_000921.5(PDE3A):c.1044C>T (p.Ala348=)not provided [RCV003086116]likely benign122061347520613475Humanname
156267410CV1919017single nucleotide variantNM_000921.5(PDE3A):c.2049C>T (p.Asp683=)not provided [RCV002627977]likely benign122063714720637147Humanname
156231761CV1965704single nucleotide variantNM_000921.5(PDE3A):c.2172C>G (p.Leu724=)not provided [RCV002596836]likely benign122063987820639878Humanname
156327861CV1982364single nucleotide variantNM_000921.5(PDE3A):c.200C>T (p.Ala67Val)not provided [RCV002649657]uncertain significance122036948420369484Humanname
156099161CV2004828single nucleotide variantNM_000921.5(PDE3A):c.2748C>T (p.Phe916=)not provided [RCV002639515]likely benign122064887020648870Humanname
156003531CV2106910single nucleotide variantNM_000921.5(PDE3A):c.293C>A (p.Ala98Glu)not provided [RCV002947903]uncertain significance122036957720369577Humanname
156230093CV2235024single nucleotide variantNM_000921.5(PDE3A):c.103C>T (p.Pro35Ser)Inborn genetic diseases [RCV002767596]uncertain significance122036938720369387Human1name
156093199CV2309912single nucleotide variantNM_000921.5(PDE3A):c.242T>C (p.Val81Ala)Inborn genetic diseases [RCV002888150]uncertain significance122036952620369526Human1name
329352941CV2468048single nucleotide variantNM_000921.5(PDE3A):c.169A>G (p.Ser57Gly)Inborn genetic diseases [RCV003200872]uncertain significance122036945320369453Human1name
405020168CV2866250single nucleotide variantNM_000921.5(PDE3A):c.1797T>C (p.Asp599=)not provided [RCV003577503]likely benign122063372920633729Humanname
402498151CV2871686single nucleotide variantNM_000921.5(PDE3A):c.269A>G (p.Glu90Gly)Inborn genetic diseases [RCV004369026]|PDE3A-related disorder [RCV003954234]|not provided [RCV003545602]likely benign|uncertain significance122036955320369553Human2name , trait , alternate_id
405126780CV3053583single nucleotide variantNM_000921.5(PDE3A):c.1962G>A (p.Ser654=)not provided [RCV003724447]likely benign122063501720635017Humanname
405173800CV3150496single nucleotide variantNM_000921.5(PDE3A):c.2427G>A (p.Val809=)not provided [RCV003841770]likely benign122064681220646812Humanname
405270238CV3187658single nucleotide variantNM_000921.5(PDE3A):c.212C>G (p.Ser71Cys)not provided [RCV003887742]uncertain significance122036949620369496Humanname
405291816CV3207704single nucleotide variantNM_000921.5(PDE3A):c.1338G>C (p.Ser446=)PDE3A-related disorder [RCV003929398]likely benign122061629820616298Humanname , trait , alternate_id
405775790CV3375202single nucleotide variantNM_000921.5(PDE3A):c.230T>A (p.Leu77Gln)Inborn genetic diseases [RCV004503078]uncertain significance122036951420369514Human1name
597705761CV3568778single nucleotide variantNM_000921.5(PDE3A):c.281A>G (p.Glu94Gly)Inborn genetic diseases [RCV004957185]uncertain significance122036956520369565Human1name
597705014CV3568787single nucleotide variantNM_000921.5(PDE3A):c.137G>T (p.Cys46Phe)Inborn genetic diseases [RCV004957194]uncertain significance122036942120369421Human1name
597705022CV3568788single nucleotide variantNM_000921.5(PDE3A):c.104C>T (p.Pro35Leu)Inborn genetic diseases [RCV004957195]uncertain significance122036938820369388Human1name
597705057CV3568792single nucleotide variantNM_000921.5(PDE3A):c.248G>A (p.Gly83Glu)Inborn genetic diseases [RCV004957199]uncertain significance122036953220369532Human1name
597848317CV3736765single nucleotide variantNM_000921.5(PDE3A):c.295G>A (p.Glu99Lys)not provided [RCV005065924]uncertain significance122036957920369579Humanname
597876302CV3747846single nucleotide variantNM_000921.5(PDE3A):c.2853C>A (p.Ile951=)not provided [RCV005069337]likely benign122065052820650528Humanname
597891061CV3805057single nucleotide variantNM_000921.5(PDE3A):c.1032T>C (p.Thr344=)not provided [RCV005151319]likely benign122061346320613463Humanname
598166766CV4006216single nucleotide variantNM_000921.5(PDE3A):c.178A>C (p.Lys60Gln)Inborn genetic diseases [RCV005391431]uncertain significance122036946220369462Human1name
598166760CV4006217single nucleotide variantNM_000921.5(PDE3A):c.176G>A (p.Arg59Gln)Inborn genetic diseases [RCV005391432]uncertain significance122036946020369460Human1name
598166731CV4006222single nucleotide variantNM_000921.5(PDE3A):c.239T>C (p.Leu80Pro)Inborn genetic diseases [RCV005391437]uncertain significance122036952320369523Human1name
15101419CV702269single nucleotide variantNM_000921.5(PDE3A):c.296A>C (p.Glu99Ala)not provided [RCV000959086]benign|likely benign122036958020369580Humanname
15117681CV713474single nucleotide variantNM_000921.5(PDE3A):c.2568G>C (p.Ala856=)PDE3A-related disorder [RCV003943115]|not provided [RCV000962245]benign122064869020648690Human1name , trait , alternate_id
15158011CV725035single nucleotide variantNM_000921.5(PDE3A):c.1512T>C (p.His504=)PDE3A-related disorder [RCV003910382]|not provided [RCV000880927]benign122062138320621383Human1name , trait , alternate_id
15178541CV725036single nucleotide variantNM_000921.5(PDE3A):c.2742T>C (p.Phe914=)not provided [RCV000885085]benign122064886420648864Humanname
15100098CV753292single nucleotide variantNM_000921.5(PDE3A):c.1779C>T (p.Ser593=)not provided [RCV000914556]benign122063371120633711Humanname
15112829CV753293single nucleotide variantNM_000921.5(PDE3A):c.2775T>C (p.Asn925=)not provided [RCV000916984]likely benign122065045020650450Humanname
150512086CV1228420microsatelliteNM_000921.5(PDE3A):c.3185-119_3185-117delnot provided [RCV001637552]benign122067990820679910Humanname
150503078CV1257707deletionNM_000921.5(PDE3A):c.3185-166_3185-111delnot provided [RCV001677395]benign122067986420679919Humanname
151757822CV1475238single nucleotide variantNM_000921.5(PDE3A):c.973T>C (p.Ser325Pro)Inborn genetic diseases [RCV002562825]|not provided [RCV001969845]uncertain significance122055667220556672Human1name
152033798CV1573049single nucleotide variantNM_000921.5(PDE3A):c.505G>T (p.Gly169Trp)PDE3A-related disorder [RCV003978534]|not provided [RCV002187154]likely benign122036978920369789Human1name , trait , alternate_id
152114036CV1624041single nucleotide variantNM_000921.5(PDE3A):c.3090C>T (p.Ser1030=)not provided [RCV002134862]benign122065411120654111Humanname
155266476CV1699042single nucleotide variantNM_000921.5(PDE3A):c.905G>A (p.Gly302Asp)not provided [RCV005096027]|not specified [RCV002282836]uncertain significance122037018920370189Humanname
156004128CV2057639single nucleotide variantNM_000921.5(PDE3A):c.3234C>T (p.His1078=)not provided [RCV002819794]uncertain significance122068007920680079Humanname
156099302CV2087915single nucleotide variantNM_000921.5(PDE3A):c.875C>G (p.Ser292Cys)not provided [RCV002848021]uncertain significance122037015920370159Humanname
156000126CV2106708single nucleotide variantNM_000921.5(PDE3A):c.617T>C (p.Leu206Pro)not provided [RCV002947745]likely benign|uncertain significance122036990120369901Humanname
156203253CV2110152single nucleotide variantNM_000921.5(PDE3A):c.3012C>T (p.Phe1004=)not provided [RCV002957459]benign122065403320654033Humanname
155900774CV2126902single nucleotide variantNM_000921.5(PDE3A):c.506G>C (p.Gly169Ala)Inborn genetic diseases [RCV002949664]|not provided [RCV002967403]uncertain significance122036979020369790Human1name
155998871CV2153111single nucleotide variantNM_000921.5(PDE3A):c.577G>C (p.Val193Leu)not provided [RCV002996922]uncertain significance122036986120369861Humanname
156347634CV2172780single nucleotide variantNM_000921.5(PDE3A):c.718C>G (p.Leu240Val)not provided [RCV003030646]uncertain significance122037000220370002Humanname
155974642CV2211192single nucleotide variantNM_000921.5(PDE3A):c.661G>A (p.Val221Ile)Inborn genetic diseases [RCV002687809]uncertain significance122036994520369945Human1name
156035506CV2246785single nucleotide variantNM_000921.5(PDE3A):c.846T>A (p.Asp282Glu)Inborn genetic diseases [RCV002758377]likely benign122037013020370130Human1name
156001206CV2257829single nucleotide variantNM_000921.5(PDE3A):c.609G>T (p.Trp203Cys)Inborn genetic diseases [RCV002794530]uncertain significance122036989320369893Human1name
156110027CV2261557single nucleotide variantNM_000921.5(PDE3A):c.703G>T (p.Ala235Ser)Inborn genetic diseases [RCV002799667]uncertain significance122036998720369987Human1name
156178129CV2298270single nucleotide variantNM_000921.5(PDE3A):c.596C>T (p.Ala199Val)Inborn genetic diseases [RCV002891806]uncertain significance122036988020369880Human1name
156155401CV2314295single nucleotide variantNM_000921.5(PDE3A):c.782A>G (p.Gln261Arg)Inborn genetic diseases [RCV002915645]uncertain significance122037006620370066Human1name
156169872CV2315487single nucleotide variantNM_000921.5(PDE3A):c.920C>T (p.Ser307Phe)Inborn genetic diseases [RCV002916493]uncertain significance122037020420370204Human1name
156281054CV2338436single nucleotide variantNM_000921.5(PDE3A):c.438G>A (p.Met146Ile)Inborn genetic diseases [RCV002960956]uncertain significance122036972220369722Human1name
156188658CV2375407single nucleotide variantNM_000921.5(PDE3A):c.695T>A (p.Phe232Tyr)Inborn genetic diseases [RCV002699816]uncertain significance122036997920369979Human1name
329401973CV2467707single nucleotide variantNM_000921.5(PDE3A):c.787G>A (p.Ala263Thr)Inborn genetic diseases [RCV003221170]uncertain significance122037007120370071Human1name
401722993CV2677162single nucleotide variantNM_000921.5(PDE3A):c.640A>G (p.Met214Val)Inborn genetic diseases [RCV003245031]uncertain significance122036992420369924Human1name
401772150CV2708150single nucleotide variantNM_000921.5(PDE3A):c.569C>T (p.Ala190Val)Inborn genetic diseases [RCV003261741]uncertain significance122036985320369853Human1name
401861967CV2766524single nucleotide variantNM_000921.5(PDE3A):c.575G>A (p.Gly192Glu)Inborn genetic diseases [RCV003342983]uncertain significance122036985920369859Human1name
401864309CV2767870single nucleotide variantNM_000921.5(PDE3A):c.593T>G (p.Leu198Trp)Inborn genetic diseases [RCV003359318]uncertain significance122036987720369877Human1name
401882014CV2784932single nucleotide variantNM_000921.5(PDE3A):c.838A>C (p.Lys280Gln)Inborn genetic diseases [RCV003365130]uncertain significance122037012220370122Human1name
401892400CV2785395single nucleotide variantNM_000921.5(PDE3A):c.458C>T (p.Ala153Val)Inborn genetic diseases [RCV003369977]uncertain significance122036974220369742Human1name
401905886CV2804664single nucleotide variantNM_000921.5(PDE3A):c.454C>A (p.Arg152Ser)PDE3A-related disorder [RCV003420939]uncertain significance122036973820369738Humanname , trait , alternate_id
405022447CV2877523single nucleotide variantNM_000921.5(PDE3A):c.3378A>G (p.Lys1126=)not provided [RCV003577719]likely benign122068022320680223Humanname
405166777CV2902207single nucleotide variantNM_000921.5(PDE3A):c.761A>G (p.Tyr254Cys)PDE3A-related disorder [RCV003939113]|not provided [RCV003562747]benign|likely benign122037004520370045Human1name , trait , alternate_id
402467590CV2910448single nucleotide variantNM_000921.5(PDE3A):c.3336T>C (p.Ser1112=)not provided [RCV003569653]likely benign122068018120680181Humanname
405080865CV3046640single nucleotide variantNM_000921.5(PDE3A):c.506G>T (p.Gly169Val)Inborn genetic diseases [RCV004953433]|not provided [RCV003717125]|not specified [RCV005407228]likely benign|uncertain significance122036979020369790Human1name
405088184CV3047853single nucleotide variantNM_000921.5(PDE3A):c.419T>A (p.Leu140Gln)not provided [RCV003717546]uncertain significance122036970320369703Humanname
405147182CV3067328single nucleotide variantNM_000921.5(PDE3A):c.803G>A (p.Arg268Lys)not provided [RCV003726146]uncertain significance122037008720370087Humanname
405154579CV3068782single nucleotide variantNM_000921.5(PDE3A):c.3267C>G (p.Val1089=)not provided [RCV003726654]likely benign122068011220680112Humanname
405168126CV3122298single nucleotide variantNM_000921.5(PDE3A):c.340G>A (p.Gly114Arg)not provided [RCV003818887]uncertain significance122036962420369624Humanname
405080737CV3137197single nucleotide variantNM_000921.5(PDE3A):c.946A>G (p.Ile316Val)not provided [RCV003834096]uncertain significance122037023020370230Humanname
405775806CV3375205single nucleotide variantNM_000921.5(PDE3A):c.311C>T (p.Ala104Val)Inborn genetic diseases [RCV004503081]uncertain significance122036959520369595Human1name
405775831CV3375209single nucleotide variantNM_000921.5(PDE3A):c.344C>G (p.Pro115Arg)Inborn genetic diseases [RCV004503085]uncertain significance122036962820369628Human1name
405775842CV3375211single nucleotide variantNM_000921.5(PDE3A):c.931A>G (p.Thr311Ala)Inborn genetic diseases [RCV004503087]uncertain significance122037021520370215Human1name
407524009CV3460170single nucleotide variantNM_000921.5(PDE3A):c.673T>C (p.Ser225Pro)Inborn genetic diseases [RCV004653498]uncertain significance122036995720369957Human1name
407524011CV3460171single nucleotide variantNM_000921.5(PDE3A):c.634G>C (p.Val212Leu)Inborn genetic diseases [RCV004653499]uncertain significance122036991820369918Human1name
407524013CV3460174single nucleotide variantNM_000921.5(PDE3A):c.494C>A (p.Ala165Asp)Inborn genetic diseases [RCV004653500]uncertain significance122036977820369778Human1name
407463339CV3460176single nucleotide variantNM_000921.5(PDE3A):c.970C>A (p.His324Asn)Inborn genetic diseases [RCV004659657]uncertain significance122055666920556669Human1name
407501356CV3495591single nucleotide variantNM_000921.5(PDE3A):c.401C>T (p.Ala134Val)not provided [RCV004697431]uncertain significance122036968520369685Humanname
596948204CV3549285single nucleotide variantNM_000921.5(PDE3A):c.710G>A (p.Arg237Lys)not provided [RCV004812105]uncertain significance122036999420369994Humanname
597705774CV3568776single nucleotide variantNM_000921.5(PDE3A):c.343C>T (p.Pro115Ser)Inborn genetic diseases [RCV004957183]uncertain significance122036962720369627Human1name
597705730CV3568782single nucleotide variantNM_000921.5(PDE3A):c.958C>G (p.Gln320Glu)Inborn genetic diseases [RCV004957189]uncertain significance122037024220370242Human1name
597705722CV3568783single nucleotide variantNM_000921.5(PDE3A):c.736G>C (p.Val246Leu)Inborn genetic diseases [RCV004957190]uncertain significance122037002020370020Human1name
597705048CV3568791single nucleotide variantNM_000921.5(PDE3A):c.643A>G (p.Ile215Val)Inborn genetic diseases [RCV004957198]uncertain significance122036992720369927Human1name
597705068CV3568794single nucleotide variantNM_000921.5(PDE3A):c.413G>C (p.Ser138Thr)Inborn genetic diseases [RCV004957201]uncertain significance122036969720369697Human1name
597943512CV3812353single nucleotide variantNM_000921.5(PDE3A):c.717C>G (p.Tyr239Ter)not provided [RCV005159563]uncertain significance122037000120370001Humanname
597934032CV3844801single nucleotide variantNM_000921.5(PDE3A):c.3339A>G (p.Ser1113=)not provided [RCV005186307]benign122068018420680184Humanname
598166742CV4006220single nucleotide variantNM_000921.5(PDE3A):c.542G>C (p.Gly181Ala)Inborn genetic diseases [RCV005391435]uncertain significance122036982620369826Human1name
15198767CV725034single nucleotide variantNM_000921.5(PDE3A):c.578T>C (p.Val193Ala)not provided [RCV000890451]benign|likely benign122036986220369862Humanname
15144586CV738583single nucleotide variantNM_000921.5(PDE3A):c.3174T>C (p.Asn1058=)not provided [RCV000900026]benign122065419520654195Humanname
15152458CV753294single nucleotide variantNM_000921.5(PDE3A):c.3237C>G (p.Leu1079=)not provided [RCV000923876]likely benign122068008220680082Humanname
126912261CV1038141single nucleotide variantNM_000921.5(PDE3A):c.1450A>T (p.Met484Leu)not provided [RCV001356330]uncertain significance122062132120621321Humanname
126913540CV1038142single nucleotide variantNM_000921.5(PDE3A):c.1657A>G (p.Thr553Ala)not provided [RCV001357457]uncertain significance122063002420630024Humanname
150474612CV1234477insertionNM_000921.5(PDE3A):c.3185-109_3185-108insCnot provided [RCV001651797]benign122067992120679922Humanname
150528607CV1288403single nucleotide variantNM_000921.5(PDE3A):c.2551A>G (p.Thr851Ala)not provided [RCV001726871]likely pathogenic122064693620646936Humanname
152131162CV1523707single nucleotide variantNM_000921.5(PDE3A):c.1512T>A (p.His504Gln)PDE3A-related disorder [RCV003913748]|not provided [RCV002136934]benign|likely benign122062138320621383Human1name , trait , alternate_id
152030393CV1622165single nucleotide variantNM_000921.5(PDE3A):c.2119T>C (p.Cys707Arg)not provided [RCV002186458]benign122063721720637217Humanname
10049295CV190181single nucleotide variantNM_000921.5(PDE3A):c.1334C>A (p.Thr445Asn)Brachydactyly-arterial hypertension syndrome [RCV000173038]pathogenic122061629420616294Human1name
10049296CV190182single nucleotide variantNM_000921.5(PDE3A):c.1333A>G (p.Thr445Ala)Brachydactyly-arterial hypertension syndrome [RCV000173039]pathogenic122061629320616293Human1name
10047448CV190183single nucleotide variantNM_000921.5(PDE3A):c.1334C>G (p.Thr445Ser)Brachydactyly-arterial hypertension syndrome [RCV000173040]pathogenic122061629420616294Human1name
10049297CV190184single nucleotide variantNM_000921.5(PDE3A):c.1339G>A (p.Ala447Thr)Brachydactyly-arterial hypertension syndrome [RCV000173041]|Inborn genetic diseases [RCV001265739]pathogenic122061629920616299Human2name
10049298CV190185single nucleotide variantNM_000921.5(PDE3A):c.1340C>T (p.Ala447Val)Brachydactyly-arterial hypertension syndrome [RCV000173042]pathogenic122061630020616300Human1name
10049299CV190186single nucleotide variantNM_000921.5(PDE3A):c.1346G>T (p.Gly449Val)Brachydactyly-arterial hypertension syndrome [RCV000173043]|not provided [RCV003556219]pathogenic122061630620616306Human1name
156418672CV1922475single nucleotide variantNM_000921.5(PDE3A):c.1289C>T (p.Pro430Leu)Brachydactyly-arterial hypertension syndrome [RCV005399133]|Inborn genetic diseases [RCV003161985]|not provided [RCV002611873]uncertain significance122061624920616249Human2name
156287242CV1929806single nucleotide variantNM_000921.5(PDE3A):c.2420A>G (p.Tyr807Cys)not provided [RCV002628667]likely benign|uncertain significance122064680520646805Humanname
156257349CV1957101single nucleotide variantNM_000921.5(PDE3A):c.1271G>A (p.Arg424His)not provided [RCV002576729]uncertain significance122061623120616231Humanname
156021456CV2105738single nucleotide variantNM_000921.5(PDE3A):c.1898G>T (p.Ser633Ile)Inborn genetic diseases [RCV002923084]|not provided [RCV002923085]uncertain significance122063495320634953Human1name
156239917CV2203700single nucleotide variantNM_000921.5(PDE3A):c.2053A>G (p.Ile685Val)Inborn genetic diseases [RCV002645494]|not provided [RCV004546770]likely benign|uncertain significance122063715120637151Human1name
10767386CV221036single nucleotide variantNM_000921.5(PDE3A):c.2832G>C (p.Met944Ile)Prostate cancer [RCV000204616]uncertain significance122065050720650507Human2name
156140119CV2246993single nucleotide variantNM_000921.5(PDE3A):c.1025G>A (p.Ser342Asn)Inborn genetic diseases [RCV002763477]uncertain significance122061345620613456Human1name
156291491CV2306086single nucleotide variantNM_000921.5(PDE3A):c.1828C>T (p.Arg610Trp)Inborn genetic diseases [RCV002897212]uncertain significance122063376020633760Human1name
156043980CV2307966single nucleotide variantNM_000921.5(PDE3A):c.1493C>A (p.Ala498Asp)Inborn genetic diseases [RCV002910809]uncertain significance122062136420621364Human1name
156202441CV2313220single nucleotide variantNM_000921.5(PDE3A):c.1177C>A (p.Pro393Thr)Inborn genetic diseases [RCV002893221]uncertain significance122061360820613608Human1name
155970966CV2392398single nucleotide variantNM_000921.5(PDE3A):c.1192G>A (p.Val398Ile)Inborn genetic diseases [RCV002754882]uncertain significance122061362320613623Human1name
243055114CV2405934single nucleotide variantNM_000921.5(PDE3A):c.1903G>C (p.Asp635His)Brachydactyly-arterial hypertension syndrome [RCV003131891]uncertain significance122063495820634958Human1name
329361853CV2448096single nucleotide variantNM_000921.5(PDE3A):c.1133G>A (p.Ser378Asn)Inborn genetic diseases [RCV003180638]uncertain significance122061356420613564Human1name
329954078CV2669404single nucleotide variantNM_000921.5(PDE3A):c.1358T>G (p.Leu453Trp)not provided [RCV003231912]uncertain significance122061631820616318Humanname
401757374CV2692961single nucleotide variantNM_000921.5(PDE3A):c.1394G>A (p.Ser465Asn)Inborn genetic diseases [RCV003256020]uncertain significance122061635420616354Human1name
401777848CV2734242single nucleotide variantNM_000921.5(PDE3A):c.1943A>T (p.Glu648Val)Brachydactyly-arterial hypertension syndrome [RCV005399320]|Inborn genetic diseases [RCV003306537]uncertain significance122063499820634998Human2name
401894697CV2785195single nucleotide variantNM_000921.5(PDE3A):c.1157C>A (p.Thr386Asn)Inborn genetic diseases [RCV003371781]uncertain significance122061358820613588Human1name
401924573CV2804963single nucleotide variantNM_000921.5(PDE3A):c.1801C>T (p.Pro601Ser)not specified [RCV003404782]uncertain significance122063373320633733Humanname
401906005CV2806781single nucleotide variantNM_000921.5(PDE3A):c.1253A>G (p.Lys418Arg)not provided [RCV003396267]uncertain significance122061368420613684Humanname
401906006CV2806782single nucleotide variantNM_000921.5(PDE3A):c.2455G>C (p.Gly819Arg)not provided [RCV003396268]uncertain significance122064684020646840Humanname
401916961CV2829588single nucleotide variantNM_000921.5(PDE3A):c.1182A>C (p.Arg394Ser)not provided [RCV003443632]uncertain significance122061361320613613Humanname
401964222CV2843562single nucleotide variantNM_000921.5(PDE3A):c.1955A>C (p.Lys652Thr)not specified [RCV003479905]uncertain significance122063501020635010Humanname
405157957CV2961065single nucleotide variantNM_000921.5(PDE3A):c.2584C>T (p.Arg862Cys)not provided [RCV003670524]uncertain significance122064870620648706Humanname
405196205CV2975991single nucleotide variantNM_000921.5(PDE3A):c.1252A>C (p.Lys418Gln)not provided [RCV003677683]uncertain significance122061368320613683Humanname
405231040CV2988273single nucleotide variantNM_000921.5(PDE3A):c.1792G>A (p.Ala598Thr)not provided [RCV003711526]uncertain significance122063372420633724Humanname
405253487CV3054248single nucleotide variantNM_000921.5(PDE3A):c.1385G>A (p.Arg462His)not provided [RCV003722551]uncertain significance122061634520616345Humanname
405193858CV3066353single nucleotide variantNM_000921.5(PDE3A):c.1751T>C (p.Ile584Thr)not provided [RCV003729977]uncertain significance122063011820630118Humanname
405134856CV3115612single nucleotide variantNM_000921.5(PDE3A):c.1826C>G (p.Thr609Ser)Inborn genetic diseases [RCV005387267]|not provided [RCV003816269]uncertain significance122063375820633758Human1name
405144270CV3126143single nucleotide variantNM_000921.5(PDE3A):c.2397G>A (p.Met799Ile)not provided [RCV003817059]uncertain significance122064678220646782Humanname
405204058CV3144054single nucleotide variantNM_000921.5(PDE3A):c.1543G>A (p.Ala515Thr)not provided [RCV003844844]uncertain significance122062991020629910Humanname
402521320CV3179521single nucleotide variantNM_000921.5(PDE3A):c.1964C>T (p.Ala655Val)not provided [RCV003879773]uncertain significance122063501920635019Humanname
405691612CV3227567single nucleotide variantNM_000921.5(PDE3A):c.2593T>G (p.Leu865Val)Brachydactyly-arterial hypertension syndrome [RCV003991912]uncertain significance122064871520648715Human1name
405775754CV3375196single nucleotide variantNM_000921.5(PDE3A):c.1298T>C (p.Leu433Ser)Inborn genetic diseases [RCV004503072]uncertain significance122061625820616258Human1name
405775759CV3375197single nucleotide variantNM_000921.5(PDE3A):c.1525A>C (p.Lys509Gln)Inborn genetic diseases [RCV004503073]uncertain significance122062139620621396Human1name
405775765CV3375198single nucleotide variantNM_000921.5(PDE3A):c.1814G>A (p.Ser605Asn)Inborn genetic diseases [RCV004503074]uncertain significance122063374620633746Human1name
405775773CV3375199single nucleotide variantNM_000921.5(PDE3A):c.1901G>A (p.Ser634Asn)Inborn genetic diseases [RCV004503075]uncertain significance122063495620634956Human1name
405775779CV3375200single nucleotide variantNM_000921.5(PDE3A):c.2108T>C (p.Ile703Thr)Inborn genetic diseases [RCV004503076]uncertain significance122063720620637206Human1name
405775784CV3375201single nucleotide variantNM_000921.5(PDE3A):c.2219A>G (p.His740Arg)Inborn genetic diseases [RCV004503077]uncertain significance122063992520639925Human1name
407524005CV3460167single nucleotide variantNM_000921.5(PDE3A):c.1214A>C (p.Tyr405Ser)Inborn genetic diseases [RCV004653496]uncertain significance122061364520613645Human1name
407463330CV3460168single nucleotide variantNM_000921.5(PDE3A):c.2909A>G (p.Asn970Ser)Inborn genetic diseases [RCV004659654]uncertain significance122065058420650584Human1name
407524007CV3460169single nucleotide variantNM_000921.5(PDE3A):c.1766G>T (p.Gly589Val)Inborn genetic diseases [RCV004653497]uncertain significance122063369820633698Human1name
407463333CV3460172single nucleotide variantNM_000921.5(PDE3A):c.1805T>C (p.Leu602Pro)Inborn genetic diseases [RCV004659655]uncertain significance122063373720633737Human1name
407463336CV3460173single nucleotide variantNM_000921.5(PDE3A):c.1228T>C (p.Ser410Pro)Inborn genetic diseases [RCV004659656]uncertain significance122061365920613659Human1name
407524016CV3460175single nucleotide variantNM_000921.5(PDE3A):c.1802C>A (p.Pro601His)Inborn genetic diseases [RCV004653501]uncertain significance122063373420633734Human1name
407463341CV3460177single nucleotide variantNM_000921.5(PDE3A):c.1523A>C (p.Lys508Thr)Inborn genetic diseases [RCV004659658]uncertain significance122062139420621394Human1name
407506092CV3496106single nucleotide variantNM_000921.5(PDE3A):c.1307G>A (p.Arg436Gln)not provided [RCV004697946]uncertain significance122061626720616267Humanname
408383619CV3506964single nucleotide variantNM_000921.5(PDE3A):c.1532G>C (p.Ser511Thr)PDE3A-related disorder [RCV004730760]uncertain significance122062140320621403Humanname , trait , alternate_id
408379983CV3509303single nucleotide variantNM_000921.5(PDE3A):c.2467G>T (p.Ala823Ser)Inborn genetic diseases [RCV005387310]|PDE3A-related disorder [RCV004753862]uncertain significance122064685220646852Human2name , trait , alternate_id
596946850CV3548684single nucleotide variantNM_000921.5(PDE3A):c.2514T>A (p.Tyr838Ter)not provided [RCV004810512]uncertain significance122064689920646899Humanname
597623041CV3552368single nucleotide variantNM_000921.5(PDE3A):c.1564C>T (p.Leu522Phe)Brachydactyly-arterial hypertension syndrome [RCV004821226]uncertain significance122062993120629931Human1name
597705751CV3568779single nucleotide variantNM_000921.5(PDE3A):c.2357G>C (p.Ser786Thr)Inborn genetic diseases [RCV004957186]uncertain significance122064659520646595Human1name
597705741CV3568780single nucleotide variantNM_000921.5(PDE3A):c.2639G>A (p.Arg880Gln)Inborn genetic diseases [RCV004957187]uncertain significance122064876120648761Human1name
597705736CV3568781single nucleotide variantNM_000921.5(PDE3A):c.1108G>A (p.Val370Met)Inborn genetic diseases [RCV004957188]uncertain significance122061353920613539Human1name
597705506CV3568784single nucleotide variantNM_000921.5(PDE3A):c.2834G>A (p.Cys945Tyr)Inborn genetic diseases [RCV004957191]uncertain significance122065050920650509Human1name
597705319CV3568785single nucleotide variantNM_000921.5(PDE3A):c.2126G>A (p.Arg709His)Inborn genetic diseases [RCV004957192]uncertain significance122063722420637224Human1name
597705152CV3568786single nucleotide variantNM_000921.5(PDE3A):c.2305A>G (p.Thr769Ala)Inborn genetic diseases [RCV004957193]uncertain significance122064654320646543Human1name
597705030CV3568789single nucleotide variantNM_000921.5(PDE3A):c.2906T>C (p.Val969Ala)Inborn genetic diseases [RCV004957196]uncertain significance122065058120650581Human1name
597705039CV3568790single nucleotide variantNM_000921.5(PDE3A):c.1718A>G (p.Asp573Gly)Inborn genetic diseases [RCV004957197]uncertain significance122063008520630085Human1name
597705061CV3568793single nucleotide variantNM_000921.5(PDE3A):c.2630T>G (p.Phe877Cys)Inborn genetic diseases [RCV004957200]uncertain significance122064875220648752Human1name
597703345CV3713972single nucleotide variantNM_000921.5(PDE3A):c.1306C>T (p.Arg436Ter)Brachydactyly-arterial hypertension syndrome [RCV005008995]uncertain significance122061626620616266Human1name
597655851CV3731520single nucleotide variantNM_000921.5(PDE3A):c.2728C>G (p.Leu910Val)not provided [RCV005001701]uncertain significance122064885020648850Humanname
597865414CV3767398single nucleotide variantNM_000921.5(PDE3A):c.1207G>A (p.Glu403Lys)not provided [RCV005106734]uncertain significance122061363820613638Humanname
597861353CV3770214single nucleotide variantNM_000921.5(PDE3A):c.1561C>T (p.Pro521Ser)not provided [RCV005106066]uncertain significance122062992820629928Humanname
598166747CV4006219single nucleotide variantNM_000921.5(PDE3A):c.2374A>C (p.Ser792Arg)Inborn genetic diseases [RCV005391434]uncertain significance122064675920646759Human1name
598166735CV4006221single nucleotide variantNM_000921.5(PDE3A):c.1367C>A (p.Ala456Glu)Inborn genetic diseases [RCV005391436]uncertain significance122061632720616327Human1name
598166725CV4006223single nucleotide variantNM_000921.5(PDE3A):c.1384C>A (p.Arg462Ser)Inborn genetic diseases [RCV005391438]uncertain significance122061634420616344Human1name
598166713CV4006225single nucleotide variantNM_000921.5(PDE3A):c.2207T>C (p.Met736Thr)Inborn genetic diseases [RCV005391440]uncertain significance122063991320639913Human1name
598209022CV4007812single nucleotide variantNM_000921.5(PDE3A):c.2255A>G (p.His752Arg)Brachydactyly-arterial hypertension syndrome [RCV005400126]uncertain significance122064649320646493Human1name
598209027CV4007813single nucleotide variantNM_000921.5(PDE3A):c.2863G>C (p.Ala955Pro)Brachydactyly-arterial hypertension syndrome [RCV005400127]uncertain significance122065053820650538Human1name
617150450CV4018988single nucleotide variantNM_000921.5(PDE3A):c.1343C>A (p.Thr448Lys)not provided [RCV005423396]uncertain significance122061630320616303Humanname
15199489CV702270single nucleotide variantNM_000921.5(PDE3A):c.1801C>A (p.Pro601Thr)not provided [RCV000957052]benign|conflicting interpretations of pathogenicity122063373320633733Humanname
15158949CV713473single nucleotide variantNM_000921.5(PDE3A):c.1045G>A (p.Val349Ile)PDE3A-related disorder [RCV003918411]|not provided [RCV000969619]likely benign122061347620613476Human1name , trait , alternate_id
15144818CV738582single nucleotide variantNM_000921.5(PDE3A):c.1376G>A (p.Arg459Gln)Brachydactyly-arterial hypertension syndrome [RCV002495445]|PDE3A-related disorder [RCV003922950]|not provided [RCV000900063]benign|likely benign122061633620616336Human8name , trait , alternate_id
15109738CV784354single nucleotide variantNM_000921.5(PDE3A):c.1490A>G (p.Tyr497Cys)PDE3A-related disorder [RCV003943261]|not provided [RCV000977298]benign122062136120621361Human1name , trait , alternate_id
39456362CV964119single nucleotide variantNM_000921.5(PDE3A):c.1346G>A (p.Gly449Asp)Brachydactyly-arterial hypertension syndrome [RCV001254931]|not provided [RCV003727957]pathogenic122061630620616306Human1name
151888633CV1402191single nucleotide variantNM_000921.5(PDE3A):c.3392G>A (p.Gly1131Asp)not provided [RCV001942625]likely benign|uncertain significance122068023720680237Humanname
151788534CV1479303single nucleotide variantNM_000921.5(PDE3A):c.3283C>T (p.Arg1095Trp)not provided [RCV002046871]uncertain significance122068012820680128Humanname
156385153CV1874821single nucleotide variantNM_000921.5(PDE3A):c.3161C>T (p.Thr1054Ile)not provided [RCV003050800]uncertain significance122065418220654182Humanname
329383260CV2434483single nucleotide variantNM_000921.5(PDE3A):c.3163T>A (p.Cys1055Ser)Inborn genetic diseases [RCV003188710]uncertain significance122065418420654184Human1name
401931423CV2798492single nucleotide variantNM_000921.5(PDE3A):c.3025G>T (p.Val1009Leu)PDE3A-related disorder [RCV003391396]uncertain significance122065404620654046Humanname , trait , alternate_id
405192169CV3157164single nucleotide variantNM_000921.5(PDE3A):c.3023T>C (p.Ile1008Thr)not provided [RCV003859852]uncertain significance122065404420654044Humanname
405775801CV3375204single nucleotide variantNM_000921.5(PDE3A):c.3088A>G (p.Ser1030Gly)Inborn genetic diseases [RCV004503080]uncertain significance122065410920654109Human1name
405775812CV3375206single nucleotide variantNM_000921.5(PDE3A):c.3190A>G (p.Lys1064Glu)Inborn genetic diseases [RCV004503082]uncertain significance122068003520680035Human1name
405775818CV3375207single nucleotide variantNM_000921.5(PDE3A):c.3193A>G (p.Thr1065Ala)Inborn genetic diseases [RCV004503083]uncertain significance122068003820680038Human1name
405775824CV3375208single nucleotide variantNM_000921.5(PDE3A):c.3379G>A (p.Gly1127Arg)Inborn genetic diseases [RCV004503084]uncertain significance122068022420680224Human1name
408379989CV3509369single nucleotide variantNM_000921.5(PDE3A):c.3320C>A (p.Thr1107Asn)PDE3A-related disorder [RCV004753866]uncertain significance122068016520680165Humanname , trait , alternate_id
597705769CV3568777single nucleotide variantNM_000921.5(PDE3A):c.3058G>C (p.Gly1020Arg)Inborn genetic diseases [RCV004957184]uncertain significance122065407920654079Human1name
597703353CV3713973single nucleotide variantNM_000921.5(PDE3A):c.3329C>T (p.Ser1110Leu)Brachydactyly-arterial hypertension syndrome [RCV005008996]uncertain significance122068017420680174Human1name
597889480CV3739410single nucleotide variantNM_000921.5(PDE3A):c.3289G>A (p.Ala1097Thr)not provided [RCV005070957]uncertain significance122068013420680134Humanname
597964535CV3754379single nucleotide variantNM_000921.5(PDE3A):c.3200A>G (p.Lys1067Arg)not provided [RCV005082486]uncertain significance122068004520680045Humanname
597891769CV3763052single nucleotide variantNM_000921.5(PDE3A):c.3394G>A (p.Glu1132Lys)not provided [RCV005110825]uncertain significance122068023920680239Humanname
598166753CV4006218single nucleotide variantNM_000921.5(PDE3A):c.3391G>A (p.Gly1131Ser)Inborn genetic diseases [RCV005391433]uncertain significance122068023620680236Human1name
15015398CV678051microsatelliteNM_000921.5(PDE3A):c.1324ACC[3] (p.Thr445del)Brachydactyly-arterial hypertension syndrome [RCV000853625]likely pathogenic122061628420616286Humanname
597830621CV3743158microsatelliteNM_000921.5(PDE3A):c.3363AGA[3] (p.Glu1125del)not provided [RCV005062166]uncertain significance122068020620680208Humanname
405035775CV2923591microsatelliteNM_000921.5(PDE3A):c.284CGG[5] (p.Ala98_Glu99insAla)not provided [RCV003578690]likely benign122036956520369566Humanname