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105 records found for search term Pml
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598210427CV4008013single nucleotide variantNM_033238.3(PML):c.1710+98G>APML-related disorder [RCV005400327]uncertain significance157403462874034628Humanname , trait , alternate_id
405288989CV3204906single nucleotide variantNM_033238.3(PML):c.1710+685C>TPML-related disorder [RCV003961553]likely benign157403521574035215Humanname , trait , alternate_id
405285690CV3209727single nucleotide variantNM_033238.3(PML):c.1710+833C>TPML-related disorder [RCV003959292]likely benign157403536374035363Humanname , trait , alternate_id
15200414CV778144single nucleotide variantNM_033238.3(PML):c.1710+948C>Tnot provided [RCV000957321]benign157403547874035478Humanname
15135526CV779712single nucleotide variantNM_033238.3(PML):c.1710+813G>APML-related disorder [RCV003916180]|not provided [RCV000965303]benign157403534374035343Humanname , trait , alternate_id
150457011CV1278574single nucleotide variantNM_033238.3(PML):c.1710+1705A>Gnot provided [RCV001709189]benign157403623574036235Human1name
405271621CV3209512single nucleotide variantNM_033238.3(PML):c.1710+1467G>APML-related disorder [RCV003949822]likely benign157403599774035997Humanname , trait , alternate_id
405273156CV3210328single nucleotide variantNM_033238.3(PML):c.1710+1029G>APML-related disorder [RCV003914555]likely benign157403555974035559Humanname , trait , alternate_id
405287550CV3217837single nucleotide variantNM_033238.3(PML):c.1710+1335G>CPML-related disorder [RCV003981960]likely benign157403586574035865Humanname , trait , alternate_id
12896348CV390172single nucleotide variantNM_033238.3(PML):c.1710+1245A>GPML-related disorder [RCV003972733]|not provided [RCV004715220]|not specified [RCV000455225]benign157403577574035775Human1name , trait , alternate_id
12896705CV390173single nucleotide variantNM_033238.3(PML):c.1710+1270G>TPML-related disorder [RCV003972734]|not provided [RCV004715221]|not specified [RCV000455707]benign157403580074035800Human6name , trait , alternate_id
12896705CV390173single nucleotide variantNM_033238.3(PML):c.1710+1270G>TPML-related disorder [RCV003972734]|not provided [RCV004715221]|not specified [RCV000455707]benign157403580074035801Human6name , trait , alternate_id
598210434CV4008014single nucleotide variantNM_033238.3(PML):c.1710+1152C>TPML-related disorder [RCV005400328]uncertain significance157403568274035682Humanname , trait , alternate_id
15183068CV731019single nucleotide variantNM_033238.3(PML):c.1710+1227G>Anot provided [RCV000886142]benign157403575774035757Humanname
156364182CV2262788single nucleotide variantNM_033238.3(PML):c.20G>T (p.Arg7Leu)not specified [RCV004130956]uncertain significance157399483273994832Humanname
405283724CV3218652single nucleotide variantNM_033238.3(PML):c.537C>T (p.Asp179=)PML-related disorder [RCV003957414]likely benign157399841173998411Humanname , trait , alternate_id
407471721CV3467661single nucleotide variantNM_033238.3(PML):c.73C>A (p.Pro25Thr)not specified [RCV004662353]uncertain significance157399488573994885Humanname
15200409CV703321single nucleotide variantNM_033238.3(PML):c.82A>C (p.Thr28Pro)not provided [RCV000957320]benign157399489473994894Humanname
15190470CV703322single nucleotide variantNM_033238.3(PML):c.792C>T (p.Ala264=)not provided [RCV000954485]benign157402301774023017Humanname
329373695CV2447333single nucleotide variantNM_033238.3(PML):c.121C>T (p.Pro41Ser)not specified [RCV004262615]uncertain significance157399493373994933Humanname
405261414CV3186190single nucleotide variantNM_033238.3(PML):c.1245C>T (p.Asp415=)not provided [RCV003885266]likely benign157402491874024918Humanname
405265593CV3220751single nucleotide variantNM_033238.3(PML):c.1149G>A (p.Leu383=)PML-related disorder [RCV003968941]likely benign157402337474023374Humanname , trait , alternate_id
405652138CV3376415single nucleotide variantNM_033238.3(PML):c.250T>G (p.Ser84Ala)not specified [RCV004509624]uncertain significance157399812473998124Humanname
598186514CV4003337single nucleotide variantNM_033238.3(PML):c.143C>T (p.Ser48Leu)not specified [RCV005395771]uncertain significance157399801773998017Humanname
15200418CV703323single nucleotide variantNM_033238.3(PML):c.2025C>T (p.Ala675=)not provided [RCV000957322]benign157404438474044384Humanname
15110281CV714591single nucleotide variantNM_033238.3(PML):c.2283G>A (p.Pro761=)not provided [RCV000960868]benign157404464274044642Humanname
15131067CV714592single nucleotide variantNM_033238.3(PML):c.2373C>G (p.Pro791=)not provided [RCV000964541]benign|likely benign157404473274044732Humanname
15138373CV754662single nucleotide variantNM_033238.3(PML):c.1074C>G (p.Arg358=)not provided [RCV000921321]likely benign157402329974023299Humanname
156041177CV2261363single nucleotide variantNM_033238.3(PML):c.905A>T (p.Asp302Val)not specified [RCV004130005]uncertain significance157402313074023130Humanname
155936969CV2379936single nucleotide variantNM_033238.3(PML):c.632T>A (p.Leu211Gln)not specified [RCV004222082]uncertain significance157402285774022857Humanname
329372753CV2451636single nucleotide variantNM_033238.3(PML):c.587C>A (p.Thr196Asn)not specified [RCV004274556]uncertain significance157399846173998461Humanname
329381562CV2471286single nucleotide variantNM_033238.3(PML):c.782T>C (p.Met261Thr)not specified [RCV004280305]uncertain significance157402300774023007Humanname
401775217CV2692300single nucleotide variantNM_033238.3(PML):c.902T>C (p.Val301Ala)not specified [RCV004310292]uncertain significance157402312774023127Humanname
401738244CV2711718single nucleotide variantNM_033238.3(PML):c.971A>G (p.Gln324Arg)not specified [RCV004309383]uncertain significance157402319674023196Humanname
401891364CV2769104single nucleotide variantNM_033238.3(PML):c.776C>T (p.Ala259Val)not specified [RCV004348959]uncertain significance157402300174023001Humanname
404981392CV2850826single nucleotide variantNM_033238.3(PML):c.919C>T (p.Arg307Cys)not provided [RCV003488288]uncertain significance157402314474023144Humanname
405652139CV3376416single nucleotide variantNM_033238.3(PML):c.365T>C (p.Ile122Thr)not specified [RCV004509625]uncertain significance157399823973998239Humanname
405652141CV3376417single nucleotide variantNM_033238.3(PML):c.944G>A (p.Arg315Gln)not specified [RCV004509626]likely benign157402316974023169Humanname
407519479CV3467662single nucleotide variantNM_033238.3(PML):c.689G>A (p.Ser230Asn)not specified [RCV004651518]uncertain significance157402291474022914Humanname
597768678CV3580423single nucleotide variantNM_033238.3(PML):c.855G>C (p.Gln285His)not specified [RCV004850736]uncertain significance157402308074023080Humanname
597743049CV3580424single nucleotide variantNM_033238.3(PML):c.859G>A (p.Val287Ile)not specified [RCV004844986]uncertain significance157402308474023084Humanname
597743062CV3580426single nucleotide variantNM_033238.3(PML):c.872G>A (p.Arg291Gln)not specified [RCV004844988]likely benign157402309774023097Humanname
597743125CV3580437single nucleotide variantNM_033238.3(PML):c.998T>G (p.Val333Gly)not specified [RCV004844998]uncertain significance157402322374023223Humanname
598186532CV4003340single nucleotide variantNM_033238.3(PML):c.895G>A (p.Glu299Lys)not specified [RCV005395774]uncertain significance157402312074023120Humanname
598186544CV4003342single nucleotide variantNM_033238.3(PML):c.322T>G (p.Phe108Val)not specified [RCV005395776]uncertain significance157399819673998196Humanname
598186550CV4003343single nucleotide variantNM_033238.3(PML):c.937G>A (p.Ala313Thr)not specified [RCV005395777]uncertain significance157402316274023162Humanname
598186575CV4003347single nucleotide variantNM_033238.3(PML):c.332G>C (p.Ser111Thr)not specified [RCV005395781]uncertain significance157399820673998206Humanname
8635562CV90784single nucleotide variantNM_033238.2(PML):c.753T>A (p.Asp251Glu)Malignant melanoma [RCV000070882]not provided157402297874022978Humanname
156258532CV2204667single nucleotide variantNM_033238.3(PML):c.2218G>A (p.Glu740Lys)not specified [RCV004081771]uncertain significance157404457774044577Humanname
11039593CV223048single nucleotide variantNM_033238.3(PML):c.2264G>C (p.Arg755Pro)Breast ductal adenocarcinoma [RCV000207284]uncertain significance157404462374044623Human2name
155916707CV2239821single nucleotide variantNM_033238.3(PML):c.1910G>A (p.Arg637His)not specified [RCV004108339]uncertain significance157404426974044269Humanname
155929551CV2278209single nucleotide variantNM_033238.3(PML):c.1507C>T (p.Arg503Trp)not specified [RCV004141398]uncertain significance157403326474033264Humanname
156168216CV2279974single nucleotide variantNM_033238.3(PML):c.1279G>A (p.Ala427Thr)not specified [RCV004146343]uncertain significance157403259674032596Humanname
156161779CV2323481single nucleotide variantNM_033238.3(PML):c.1946A>G (p.Tyr649Cys)not specified [RCV004165690]uncertain significance157404430574044305Humanname
155900896CV2345693single nucleotide variantNM_033238.3(PML):c.2518G>T (p.Ala840Ser)not specified [RCV004205634]uncertain significance157404487774044877Humanname
155925858CV2348526single nucleotide variantNM_033238.3(PML):c.2375G>A (p.Arg792Gln)not specified [RCV004193709]uncertain significance157404473474044734Humanname
156135645CV2379935single nucleotide variantNM_033238.3(PML):c.2515C>G (p.Pro839Ala)not specified [RCV004222081]uncertain significance157404487474044874Humanname
156059504CV2391758single nucleotide variantNM_033238.3(PML):c.1346C>T (p.Ala449Val)not specified [RCV004235640]uncertain significance157403266374032663Humanname
329360300CV2446664single nucleotide variantNM_033238.3(PML):c.1519G>A (p.Glu507Lys)not specified [RCV004251550]uncertain significance157403327674033276Humanname
329376878CV2460610single nucleotide variantNM_033238.3(PML):c.1220C>T (p.Ala407Val)not specified [RCV004268878]uncertain significance157402489374024893Humanname
329362261CV2466225single nucleotide variantNM_033238.3(PML):c.2231T>A (p.Met744Lys)not specified [RCV004279860]uncertain significance157404459074044590Humanname
401728532CV2693620single nucleotide variantNM_033238.3(PML):c.2114C>T (p.Ser705Leu)not specified [RCV004297961]uncertain significance157404447374044473Humanname
401873677CV2761531single nucleotide variantNM_033238.3(PML):c.2615G>A (p.Arg872His)not specified [RCV004334701]likely benign157404497474044974Humanname
401897764CV2776574single nucleotide variantNM_033238.3(PML):c.1960T>C (p.Ser654Pro)not specified [RCV004355669]uncertain significance157404431974044319Humanname
401880413CV2780078single nucleotide variantNM_033238.3(PML):c.1748G>C (p.Ser583Thr)not specified [RCV004355741]uncertain significance157404302674043026Humanname
405293476CV3192649single nucleotide variantNM_033238.3(PML):c.2509G>A (p.Ala837Thr)PML-related disorder [RCV003931861]likely benign157404486874044868Humanname , trait , alternate_id
405284342CV3213673single nucleotide variantNM_033238.3(PML):c.2174A>G (p.Lys725Arg)PML-related disorder [RCV003922241]likely benign157404453374044533Humanname , trait , alternate_id
405652075CV3376407single nucleotide variantNM_033238.3(PML):c.1174C>A (p.Gln392Lys)not specified [RCV004509616]uncertain significance157402339974023399Humanname
405652077CV3376408single nucleotide variantNM_033238.3(PML):c.1666G>A (p.Val556Ile)not specified [RCV004509617]likely benign157403448674034486Humanname
405652079CV3376409single nucleotide variantNM_033238.3(PML):c.1957G>A (p.Val653Met)not specified [RCV004509618]uncertain significance157404431674044316Humanname
405652129CV3376410single nucleotide variantNM_033238.3(PML):c.1981C>T (p.His661Tyr)not specified [RCV004509619]uncertain significance157404434074044340Humanname
405652130CV3376411single nucleotide variantNM_033238.3(PML):c.2056A>C (p.Asn686His)not specified [RCV004509620]uncertain significance157404441574044415Humanname
405652132CV3376412single nucleotide variantNM_033238.3(PML):c.2176C>T (p.Leu726Phe)not specified [RCV004509621]uncertain significance157404453574044535Humanname
405652134CV3376413single nucleotide variantNM_033238.3(PML):c.2192A>G (p.Gln731Arg)not specified [RCV004509622]uncertain significance157404455174044551Humanname
405652136CV3376414single nucleotide variantNM_033238.3(PML):c.2437C>T (p.Arg813Cys)not specified [RCV004509623]uncertain significance157404479674044796Humanname
407471713CV3467658single nucleotide variantNM_033238.3(PML):c.2251C>T (p.Arg751Cys)not specified [RCV004662351]uncertain significance157404461074044610Humanname
407519477CV3467659single nucleotide variantNM_033238.3(PML):c.1705A>T (p.Asn569Tyr)not specified [RCV004651517]uncertain significance157403452574034525Humanname
407471717CV3467660single nucleotide variantNM_033238.3(PML):c.2462A>G (p.Lys821Arg)not specified [RCV004662352]uncertain significance157404482174044821Humanname
407471727CV3467663single nucleotide variantNM_033238.3(PML):c.1028A>G (p.Gln343Arg)not specified [RCV004662354]uncertain significance157402325374023253Humanname
597743035CV3580421single nucleotide variantNM_033238.3(PML):c.1562A>C (p.His521Pro)not specified [RCV004844984]uncertain significance157403331974033319Humanname
597743042CV3580422single nucleotide variantNM_033238.3(PML):c.1382G>C (p.Gly461Ala)not specified [RCV004844985]uncertain significance157403269974032699Humanname
597743056CV3580425single nucleotide variantNM_033238.3(PML):c.1808C>G (p.Pro603Arg)not specified [RCV004844987]uncertain significance157404308674043086Humanname
597743068CV3580427single nucleotide variantNM_033238.3(PML):c.1957G>C (p.Val653Leu)not specified [RCV004844989]uncertain significance157404431674044316Humanname
597743081CV3580429single nucleotide variantNM_033238.3(PML):c.2297C>T (p.Ala766Val)not specified [RCV004844991]uncertain significance157404465674044656Humanname
597768683CV3580430single nucleotide variantNM_033238.3(PML):c.1924C>T (p.Pro642Ser)not specified [RCV004850737]uncertain significance157404428374044283Humanname
597743087CV3580431single nucleotide variantNM_033238.3(PML):c.1747A>G (p.Ser583Gly)not specified [RCV004844992]uncertain significance157404302574043025Humanname
597743094CV3580432single nucleotide variantNM_033238.3(PML):c.1258G>A (p.Glu420Lys)not specified [RCV004844993]uncertain significance157403257574032575Humanname
597743100CV3580433single nucleotide variantNM_033238.3(PML):c.1782G>C (p.Arg594Ser)not specified [RCV004844994]uncertain significance157404306074043060Humanname
597743106CV3580434single nucleotide variantNM_033238.3(PML):c.2081T>A (p.Ile694Asn)not specified [RCV004844995]uncertain significance157404444074044440Humanname
597743112CV3580435single nucleotide variantNM_033238.3(PML):c.1824A>T (p.Arg608Ser)not specified [RCV004844996]uncertain significance157404310274043102Humanname
597743119CV3580436single nucleotide variantNM_033238.3(PML):c.2498C>T (p.Thr833Met)not specified [RCV004844997]uncertain significance157404485774044857Humanname
597743131CV3580438single nucleotide variantNM_033238.3(PML):c.2143C>T (p.Arg715Trp)not specified [RCV004844999]uncertain significance157404450274044502Humanname
598186495CV4003334single nucleotide variantNM_033238.3(PML):c.1909C>T (p.Arg637Cys)not specified [RCV005395768]uncertain significance157404426874044268Humanname
598186501CV4003335single nucleotide variantNM_033238.3(PML):c.2158G>A (p.Gly720Arg)not specified [RCV005395769]uncertain significance157404451774044517Humanname
598186508CV4003336single nucleotide variantNM_033238.3(PML):c.2281C>G (p.Pro761Ala)not specified [RCV005395770]uncertain significance157404464074044640Humanname
598186521CV4003338single nucleotide variantNM_033238.3(PML):c.1111G>T (p.Val371Leu)not specified [RCV005395772]uncertain significance157402333674023336Humanname
598186527CV4003339single nucleotide variantNM_033238.3(PML):c.1508G>A (p.Arg503Gln)not specified [RCV005395773]uncertain significance157403326574033265Humanname
598186538CV4003341single nucleotide variantNM_033238.3(PML):c.1471A>C (p.Met491Leu)not specified [RCV005395775]uncertain significance157403322874033228Humanname
598186561CV4003345single nucleotide variantNM_033238.3(PML):c.1477T>A (p.Ser493Thr)not specified [RCV005395779]uncertain significance157403323474033234Humanname
598186567CV4003346single nucleotide variantNM_033238.3(PML):c.2036T>C (p.Leu679Pro)not specified [RCV005395780]uncertain significance157404439574044395Humanname
598186581CV4003348single nucleotide variantNM_033238.3(PML):c.2453G>A (p.Gly818Glu)not specified [RCV005395782]uncertain significance157404481274044812Humanname
598210421CV4008012single nucleotide variantNM_033238.3(PML):c.1033G>A (p.Val345Met)PML-related disorder [RCV005400326]uncertain significance157402325874023258Humanname , trait , alternate_id
15154908CV726239single nucleotide variantNM_033238.3(PML):c.1645G>A (p.Ala549Thr)not provided [RCV000880310]benign157403340274033402Humanname
404981397CV2850827duplicationNM_033238.3(PML):c.929_941dup (p.Ser314fs)not provided [RCV003488289]uncertain significance157402315274023153Humanname
598210440CV4008015microsatelliteNM_033238.3(PML):c.1710+675TCCTCGCCAGCCCAC[2]PML-related disorder [RCV005400329]uncertain significance157403520574035219Humanname , trait , alternate_id