Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


217 records found for search term Dram
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
127291275CV1109283single nucleotide variantNM_001349884.2(DRAM2):c.601-6A>Gnot provided [RCV001451453]likely benign1111118903111118903Humanname
127335034CV1130197single nucleotide variantNM_001349884.2(DRAM2):c.518-8T>Cnot provided [RCV001491242]likely benign1111119967111119967Humanname
151870644CV1436882single nucleotide variantNM_001349884.2(DRAM2):c.199+1G>Anot provided [RCV002018892]likely pathogenic1111126226111126226Humanname
151833771CV1446688single nucleotide variantNM_001349884.2(DRAM2):c.199+6T>GCone-rod dystrophy 21 [RCV005254024]|not provided [RCV002031061]uncertain significance1111126221111126221Human2name
152159564CV1589794single nucleotide variantNM_001349884.2(DRAM2):c.199+9T>Cnot provided [RCV002203197]likely benign1111126218111126218Humanname
152076730CV1632759single nucleotide variantNM_001349884.2(DRAM2):c.694-7G>Tnot provided [RCV002170016]likely benign1111118274111118274Humanname
152055451CV1648837single nucleotide variantNM_001349884.2(DRAM2):c.340-9A>Gnot provided [RCV002072875]likely benign1111120702111120702Humanname
155901551CV1999064single nucleotide variantNM_001349884.2(DRAM2):c.199+7A>Tnot provided [RCV002681131]uncertain significance1111126220111126220Humanname
156009605CV2011378single nucleotide variantNM_001349884.2(DRAM2):c.340-9A>Cnot provided [RCV002690443]likely benign1111120702111120702Humanname
156239859CV2053042single nucleotide variantNM_001349884.2(DRAM2):c.200-8T>Cnot provided [RCV002791312]likely benign1111124889111124889Humanname
156031350CV2156445single nucleotide variantNM_001349884.2(DRAM2):c.601-1G>ACone-rod dystrophy 21 [RCV005362971]|not provided [RCV003018689]likely pathogenic1111118898111118898Human2name
156212838CV2170989single nucleotide variantNM_001349884.2(DRAM2):c.694-7G>Anot provided [RCV003042398]likely benign1111118274111118274Humanname
156011276CV2172238single nucleotide variantNM_001349884.2(DRAM2):c.517+5C>ACone-rod dystrophy [RCV003324585]|not provided [RCV003035255]likely pathogenic|uncertain significance1111120511111120511Human3name
405073405CV2940556single nucleotide variantNM_001349884.2(DRAM2):c.518-4A>Cnot provided [RCV003659557]likely benign1111119963111119963Humanname
405161888CV2960351single nucleotide variantNM_001349884.2(DRAM2):c.518-4A>Gnot provided [RCV003674741]likely benign1111119963111119963Humanname
405266618CV3213171single nucleotide variantNM_001349884.2(DRAM2):c.694-5T>ADRAM2-related disorder [RCV003969320]likely benign1111118272111118272Humanname , trait , alternate_id
405289913CV3219209single nucleotide variantNM_001349884.2(DRAM2):c.694-4C>ADRAM2-related disorder [RCV003962080]likely benign1111118271111118271Humanname , trait , alternate_id
405291864CV3221171single nucleotide variantNM_001349884.2(DRAM2):c.694-6T>GDRAM2-related disorder [RCV003964266]likely benign1111118273111118273Humanname , trait , alternate_id
617153514CV3703407single nucleotide variantNM_001349884.2(DRAM2):c.132-6T>CRetinitis pigmentosa sine pigmento with macular involvement [RCV005419802]uncertain significance1111126300111126300Humanname
597887275CV3859279single nucleotide variantNM_001349884.2(DRAM2):c.518-1G>Anot provided [RCV005199932]likely pathogenic1111119960111119960Humanname
14732586CV656946single nucleotide variantNM_001349884.2(DRAM2):c.601-9A>GCone-rod dystrophy 21 [RCV001664470]|not provided [RCV000836668]benign1111118906111118906Human2name
15145434CV786969single nucleotide variantNM_001349884.2(DRAM2):c.339+9T>Gnot provided [RCV000983664]likely benign1111124733111124733Humanname
26887259CV850706single nucleotide variantNM_001349884.2(DRAM2):c.600+6A>Tnot provided [RCV001056088]uncertain significance1111119871111119871Humanname
26910328CV857118single nucleotide variantNM_001349884.2(DRAM2):c.340-2A>GRetinal dystrophy [RCV001074769]|not provided [RCV003727842]likely pathogenic1111120695111120695Human2name
150456313CV1278482single nucleotide variantNM_001349884.2(DRAM2):c.517+98T>Cnot provided [RCV001709097]benign1111120418111120418Humanname
151754520CV1391350single nucleotide variantNM_001349884.2(DRAM2):c.693+10C>Tnot provided [RCV001969536]uncertain significance1111118795111118795Humanname
152162291CV1534997single nucleotide variantNM_001349884.2(DRAM2):c.600+11A>Gnot provided [RCV002141124]likely benign1111119866111119866Humanname
152089242CV1550336single nucleotide variantNM_001349884.2(DRAM2):c.518-11T>Cnot provided [RCV002131835]likely benign1111119970111119970Humanname
152076196CV1551380single nucleotide variantNM_001349884.2(DRAM2):c.200-17G>Cnot provided [RCV002192441]likely benign1111124898111124898Humanname
152113491CV1586092single nucleotide variantNM_001349884.2(DRAM2):c.600+18A>Gnot provided [RCV002153362]likely benign1111119859111119859Humanname
152037167CV1605537single nucleotide variantNM_001349884.2(DRAM2):c.600+13A>Tnot provided [RCV002087411]likely benign1111119864111119864Humanname
152074520CV1630209single nucleotide variantNM_001349884.2(DRAM2):c.601-11C>Gnot provided [RCV002169726]likely benign1111118908111118908Humanname
152034825CV1639578single nucleotide variantNM_001349884.2(DRAM2):c.600+17T>Cnot provided [RCV002187320]likely benign1111119860111119860Humanname
152160073CV1651789single nucleotide variantNM_001349884.2(DRAM2):c.601-13T>Cnot provided [RCV002180777]likely benign1111118910111118910Humanname
156063324CV1975258single nucleotide variantNM_001349884.2(DRAM2):c.199+10G>Anot provided [RCV002591048]likely benign1111126217111126217Humanname
156393230CV1983376single nucleotide variantNM_001349884.2(DRAM2):c.517+18A>Gnot provided [RCV002604871]likely benign1111120498111120498Humanname
156341102CV1994181single nucleotide variantNM_001349884.2(DRAM2):c.132-20C>Tnot provided [RCV002650320]likely benign1111126314111126314Humanname
155911813CV2010926single nucleotide variantNM_001349884.2(DRAM2):c.200-14T>Gnot provided [RCV002681778]uncertain significance1111124895111124895Humanname
156230427CV2093782single nucleotide variantNM_001349884.2(DRAM2):c.131+18T>Cnot provided [RCV002894531]likely benign1111131406111131406Humanname
155968076CV2152323single nucleotide variantNM_001349884.2(DRAM2):c.340-11C>Gnot provided [RCV003015801]likely benign1111120704111120704Humanname
156310267CV2164006single nucleotide variantNM_001349884.2(DRAM2):c.132-12T>Gnot provided [RCV003045989]likely benign1111126306111126306Humanname
405043209CV2859639single nucleotide variantNM_001349884.2(DRAM2):c.199+14G>Anot provided [RCV003579270]likely benign1111126213111126213Humanname
402505315CV2947588single nucleotide variantNM_001349884.2(DRAM2):c.131+10A>Gnot provided [RCV003662002]likely benign1111131414111131414Humanname
405112855CV3118672single nucleotide variantNM_001349884.2(DRAM2):c.517+17A>Gnot provided [RCV003813900]likely benign1111120499111120499Humanname
405094586CV3118979single nucleotide variantNM_001349884.2(DRAM2):c.132-10T>Cnot provided [RCV003811430]likely benign1111126304111126304Humanname
405124476CV3136433deletionNM_001349884.2(DRAM2):c.339+11delnot provided [RCV003837763]benign1111124731111124731Humanname
597870928CV3749979single nucleotide variantNM_001349884.2(DRAM2):c.339+20A>Gnot provided [RCV005068660]likely benign1111124722111124722Humanname
597937657CV3774733single nucleotide variantNM_001349884.2(DRAM2):c.517+12T>Cnot provided [RCV005117766]likely benign1111120504111120504Humanname
597975769CV3828689single nucleotide variantNM_001349884.2(DRAM2):c.131+17C>Tnot provided [RCV005169318]likely benign1111131407111131407Humanname
597933326CV3858603single nucleotide variantNM_001349884.2(DRAM2):c.340-11C>Tnot provided [RCV005207072]likely benign1111120704111120704Humanname
14732588CV656955single nucleotide variantNM_001349884.2(DRAM2):c.693+14A>GCone-rod dystrophy 21 [RCV001664471]|not provided [RCV000836669]benign1111118791111118791Human2name
151734759CV1508737deletionNM_001349884.2(DRAM2):c.200-2_211delnot provided [RCV002021673]likely pathogenic1111124870111124883Humanname
127292040CV1109284inversionNM_001349884.2(DRAM2):c.601-10_601-9invnot provided [RCV001476226]likely benign1111118906111118907Humanname
127330588CV1130199microsatelliteNM_001349884.2(DRAM2):c.340-13_340-10delnot provided [RCV001488235]likely benign1111120703111120706Humanname
127298484CV1153179indelNM_001349884.2(DRAM2):c.693+14_693+15delinsGCnot provided [RCV001513275]benign1111118790111118791Humanname
126755203CV986806indelNM_001349884.2(DRAM2):c.693+13_693+14delinsGGnot provided [RCV001307805]uncertain significance1111118791111118792Humanname
10058943CV201011deletionDRAM2, 1-BP DEL, 140GCONE-ROD DYSTROPHY 21 [RCV000186601]pathogenicHuman1name
10058945CV201014deletionDRAM2, 3-BP DEL, NT64CONE-ROD DYSTROPHY 21 [RCV000186604]pathogenicHuman1name
152170999CV1552513single nucleotide variantNM_001349884.2(DRAM2):c.126T>C (p.Tyr42=)DRAM2-related disorder [RCV004758877]|not provided [RCV002143304]likely benign1111131429111131429Human1name , trait , alternate_id
10058944CV201012variationDRAM2, TRP165TER (rs201422368)CONE-ROD DYSTROPHY 21 [RCV000186602]pathogenicHumanname
151884030CV1404922single nucleotide variantNM_001349884.2(DRAM2):c.3G>A (p.Met1Ile)not provided [RCV001962249]pathogenic|uncertain significance1111131552111131552Humanname
151772791CV1414266single nucleotide variantNM_001349884.2(DRAM2):c.5G>A (p.Trp2Ter)not provided [RCV001874615]pathogenic1111131550111131550Humanname
155964553CV2308395single nucleotide variantNM_018370.3(DRAM1):c.118C>T (p.Leu40Phe)not specified [RCV004164869]uncertain significance12101877907101877907Humanname
329367033CV2442053single nucleotide variantNM_018370.3(DRAM1):c.187T>G (p.Ser63Ala)not specified [RCV004262208]uncertain significance12101897918101897918Humanname
329356338CV2460262single nucleotide variantNM_018370.3(DRAM1):c.251C>A (p.Thr84Asn)not specified [RCV004266817]uncertain significance12101901342101901342Humanname
405713465CV3248067single nucleotide variantNM_018370.3(DRAM1):c.110A>T (p.Asn37Ile)not specified [RCV004377022]uncertain significance12101877899101877899Humanname
405713470CV3248068single nucleotide variantNM_018370.3(DRAM1):c.137C>T (p.Thr46Met)not specified [RCV004377023]uncertain significance12101897868101897868Humanname
597681160CV3663775single nucleotide variantNM_018370.3(DRAM1):c.164T>G (p.Ile55Ser)not specified [RCV004914309]uncertain significance12101897895101897895Humanname
598187462CV3960970single nucleotide variantNM_018370.3(DRAM1):c.161G>A (p.Gly54Asp)not specified [RCV005334212]uncertain significance12101897892101897892Humanname
15195483CV745564single nucleotide variantNM_001349884.2(DRAM2):c.39A>G (p.Ser13=)not provided [RCV000911430]likely benign1111131516111131516Humanname
127261398CV1058376duplicationNM_001349884.2(DRAM2):c.92dup (p.Thr32fs)not provided [RCV001387517]pathogenic1111131462111131463Humanname
127293156CV1109288single nucleotide variantNM_001349884.2(DRAM2):c.258C>T (p.Asn86=)not provided [RCV001451909]likely benign1111124823111124823Humanname
151800159CV1343982single nucleotide variantNM_001349884.2(DRAM2):c.279G>A (p.Lys93=)not provided [RCV002028014]likely benign|uncertain significance1111124802111124802Humanname
151729027CV1483065single nucleotide variantNM_001349884.2(DRAM2):c.189G>A (p.Ala63=)not provided [RCV001892049]likely benign|uncertain significance1111126237111126237Humanname
156227540CV1958918single nucleotide variantNM_001349884.2(DRAM2):c.16C>G (p.Gln6Glu)not provided [RCV002596684]uncertain significance1111131539111131539Humanname
156167529CV1993420single nucleotide variantNM_001349884.2(DRAM2):c.291A>G (p.Val97=)not provided [RCV002642623]likely benign1111124790111124790Humanname
155962355CV2140659single nucleotide variantNM_001349884.2(DRAM2):c.276C>T (p.Asn92=)not provided [RCV003015531]likely benign1111124805111124805Humanname
155906915CV2302114single nucleotide variantNM_018370.3(DRAM1):c.505G>A (p.Ala169Thr)not specified [RCV004159135]uncertain significance12101908348101908348Humanname
329356110CV2442416single nucleotide variantNM_018370.3(DRAM1):c.316G>A (p.Gly106Arg)not specified [RCV004266664]uncertain significance12101901407101901407Humanname
329380443CV2444385single nucleotide variantNM_018370.3(DRAM1):c.556C>A (p.Leu186Met)not specified [RCV004263129]uncertain significance12101914209101914209Humanname
401721230CV2673645single nucleotide variantNM_018370.3(DRAM1):c.451T>G (p.Trp151Gly)not specified [RCV004282379]uncertain significance12101908294101908294Humanname
401778850CV2705773single nucleotide variantNM_018370.3(DRAM1):c.409A>G (p.Thr137Ala)not specified [RCV004318609]uncertain significance12101908252101908252Humanname
401891243CV2779160single nucleotide variantNM_018370.3(DRAM1):c.560A>C (p.Glu187Ala)not specified [RCV004349072]uncertain significance12101914213101914213Humanname
405713482CV3248069single nucleotide variantNM_018370.3(DRAM1):c.595G>A (p.Val199Ile)not specified [RCV004377024]uncertain significance12101920124101920124Humanname
405713489CV3248070single nucleotide variantNM_018370.3(DRAM1):c.704A>G (p.Asn235Ser)not specified [RCV004377025]uncertain significance12101921247101921247Humanname
597681154CV3663774single nucleotide variantNM_018370.3(DRAM1):c.527T>C (p.Val176Ala)not specified [RCV004914308]likely benign12101914180101914180Humanname
598187456CV3960969single nucleotide variantNM_018370.3(DRAM1):c.464C>T (p.Ser155Leu)not specified [RCV005334211]uncertain significance12101908307101908307Humanname
598187469CV3960971single nucleotide variantNM_018370.3(DRAM1):c.477A>G (p.Ile159Met)not specified [RCV005334213]uncertain significance12101908320101908320Humanname
126758198CV1022533single nucleotide variantNM_001349884.2(DRAM2):c.70A>G (p.Ile24Val)not provided [RCV001339784]uncertain significance1111131485111131485Humanname
127271148CV1066023single nucleotide variantNM_001349884.2(DRAM2):c.717C>T (p.Ala239=)not provided [RCV001405263]likely benign1111118244111118244Humanname
127242383CV1066024single nucleotide variantNM_001349884.2(DRAM2):c.480G>A (p.Leu160=)not provided [RCV001393331]likely benign1111120553111120553Humanname
127230782CV1066025single nucleotide variantNM_001349884.2(DRAM2):c.318T>C (p.Leu106=)not provided [RCV001394914]likely benign1111124763111124763Humanname
127236955CV1087792single nucleotide variantNM_001349884.2(DRAM2):c.594G>A (p.Glu198=)not provided [RCV001422626]likely benign1111119883111119883Humanname
127292117CV1109285single nucleotide variantNM_001349884.2(DRAM2):c.582T>C (p.His194=)not provided [RCV001458901]likely benign1111119895111119895Humanname
127323229CV1109286single nucleotide variantNM_001349884.2(DRAM2):c.465C>T (p.Val155=)not provided [RCV001467833]likely benign1111120568111120568Humanname
127292930CV1109287single nucleotide variantNM_001349884.2(DRAM2):c.387T>C (p.Phe129=)not provided [RCV001476444]likely benign1111120646111120646Humanname
127318641CV1130198single nucleotide variantNM_001349884.2(DRAM2):c.426T>G (p.Leu142=)not provided [RCV001483583]likely benign1111120607111120607Humanname
150543965CV1313065duplicationNM_001349884.2(DRAM2):c.80dup (p.Tyr27Ter)Cone-rod dystrophy 21 [RCV001783143]|not provided [RCV002541140]pathogenic1111131474111131475Human2name
151810516CV1359278single nucleotide variantNM_001349884.2(DRAM2):c.47T>C (p.Val16Ala)not provided [RCV001991784]uncertain significance1111131508111131508Humanname
151812518CV1498078single nucleotide variantNM_001349884.2(DRAM2):c.82A>C (p.Ile28Leu)not provided [RCV001953966]uncertain significance1111131473111131473Humanname
152092147CV1528969single nucleotide variantNM_001349884.2(DRAM2):c.703T>C (p.Leu235=)not provided [RCV002094335]likely benign1111118258111118258Humanname
152036966CV1605470single nucleotide variantNM_001349884.2(DRAM2):c.534A>G (p.Ser178=)not provided [RCV002087377]likely benign1111119943111119943Humanname
152064455CV1606867single nucleotide variantNM_001349884.2(DRAM2):c.348C>A (p.Thr116=)not provided [RCV002209123]likely benign1111120685111120685Humanname
152168972CV1614017single nucleotide variantNM_001349884.2(DRAM2):c.612T>G (p.Leu204=)not provided [RCV002161292]likely benign1111118886111118886Humanname
152170432CV1651085single nucleotide variantNM_001349884.2(DRAM2):c.396C>T (p.Gly132=)not provided [RCV002143115]likely benign1111120637111120637Humanname
152113063CV1665180single nucleotide variantNM_001349884.2(DRAM2):c.708G>A (p.Arg236=)not provided [RCV002097112]likely benign1111118253111118253Humanname
156200280CV1882933single nucleotide variantNM_001349884.2(DRAM2):c.516C>T (p.Ser172=)not provided [RCV003084191]uncertain significance1111120517111120517Humanname
10046802CV190036deletionNM_001349884.2(DRAM2):c.140del (p.Gly47fs)Cone-rod dystrophy 21 [RCV000186601]|Retinal dystrophy [RCV000172832]pathogenic1111126286111126286Human4name
10047037CV190038single nucleotide variantNM_001349884.2(DRAM2):c.79T>C (p.Tyr27His)Retinal dystrophy [RCV000172834]pathogenic1111131476111131476Human2name
156350830CV2001402deletionNM_001349884.2(DRAM2):c.296del (p.Gly99fs)not provided [RCV002675580]pathogenic1111124785111124785Humanname
155941131CV2022306single nucleotide variantNM_001349884.2(DRAM2):c.98T>G (p.Leu33Arg)not provided [RCV002730122]uncertain significance1111131457111131457Humanname
156170222CV2041516single nucleotide variantNM_001349884.2(DRAM2):c.651T>C (p.Phe217=)not provided [RCV002741837]likely benign1111118847111118847Humanname
156212513CV2142063single nucleotide variantNM_001349884.2(DRAM2):c.72A>G (p.Ile24Met)not provided [RCV002985648]uncertain significance1111131483111131483Humanname
156049127CV2144490single nucleotide variantNM_001349884.2(DRAM2):c.71T>C (p.Ile24Thr)not provided [RCV002999810]uncertain significance1111131484111131484Humanname
156186191CV2178679single nucleotide variantNM_001349884.2(DRAM2):c.744C>T (p.Asp248=)not provided [RCV003057684]likely benign1111118217111118217Humanname
405121553CV2888157single nucleotide variantNM_001349884.2(DRAM2):c.711G>T (p.Val237=)not provided [RCV003559147]likely benign1111118250111118250Humanname
405243048CV3164708single nucleotide variantNM_001349884.2(DRAM2):c.795T>C (p.Asp265=)not provided [RCV003867789]likely benign1111118166111118166Humanname
597936719CV3759835single nucleotide variantNM_001349884.2(DRAM2):c.492C>T (p.Ile164=)not provided [RCV005076757]likely benign1111120541111120541Humanname
597974218CV3801833single nucleotide variantNM_001349884.2(DRAM2):c.525T>C (p.Thr175=)not provided [RCV005143822]likely benign1111119952111119952Humanname
15185503CV731574single nucleotide variantNM_001349884.2(DRAM2):c.306T>C (p.Ser102=)not provided [RCV000908548]likely benign1111124775111124775Humanname
26910212CV855850single nucleotide variantNM_001349884.2(DRAM2):c.89C>T (p.Ala30Val)Retinal dystrophy [RCV001074582]|not provided [RCV001862834]uncertain significance1111131466111131466Human2name
126756560CV1002026single nucleotide variantNM_001349884.2(DRAM2):c.284G>T (p.Gly95Val)not provided [RCV001317232]uncertain significance1111124797111124797Humanname
126764766CV1002028single nucleotide variantNM_001349884.2(DRAM2):c.115G>A (p.Ala39Thr)not provided [RCV001319781]uncertain significance1111131440111131440Humanname
126922361CV1039349single nucleotide variantNM_001349884.2(DRAM2):c.246T>G (p.Ser82Arg)Retinal dystrophy [RCV004815466]|not provided [RCV001364582]uncertain significance1111124835111124835Human2name
151811947CV1345423single nucleotide variantNM_001349884.2(DRAM2):c.111C>A (p.Asp37Glu)not provided [RCV001878358]uncertain significance1111131444111131444Humanname
151810836CV1350310single nucleotide variantNM_001349884.2(DRAM2):c.113C>T (p.Pro38Leu)Inborn genetic diseases [RCV005331158]|not provided [RCV002048839]uncertain significance1111131442111131442Human1name
151773185CV1357485single nucleotide variantNM_001349884.2(DRAM2):c.188C>T (p.Ala63Val)not provided [RCV001864273]uncertain significance1111126238111126238Humanname
151848419CV1362126single nucleotide variantNM_001349884.2(DRAM2):c.152C>T (p.Pro51Leu)not provided [RCV001937030]uncertain significance1111126274111126274Humanname
151800992CV1369229single nucleotide variantNM_001349884.2(DRAM2):c.242T>C (p.Leu81Pro)not provided [RCV002028089]uncertain significance1111124839111124839Humanname
151788708CV1374096single nucleotide variantNM_001349884.2(DRAM2):c.125A>T (p.Tyr42Phe)not provided [RCV001951830]uncertain significance1111131430111131430Humanname
151835290CV1394497single nucleotide variantNM_001349884.2(DRAM2):c.233T>A (p.Val78Asp)not provided [RCV002051138]uncertain significance1111124848111124848Humanname
151766885CV1418908deletionNM_001349884.2(DRAM2):c.758del (p.Pro253fs)not provided [RCV001929137]uncertain significance1111118203111118203Humanname
151799731CV1426355single nucleotide variantNM_001349884.2(DRAM2):c.109G>C (p.Asp37His)not provided [RCV001990837]uncertain significance1111131446111131446Humanname
151852705CV1459034single nucleotide variantNM_001349884.2(DRAM2):c.135C>G (p.Asp45Glu)not provided [RCV002016800]uncertain significance1111126291111126291Humanname
151851955CV1476056single nucleotide variantNM_001349884.2(DRAM2):c.133G>A (p.Asp45Asn)not provided [RCV001996078]uncertain significance1111126293111126293Humanname
151765932CV1485894single nucleotide variantNM_001349884.2(DRAM2):c.221G>A (p.Arg74His)not provided [RCV002044777]uncertain significance1111124860111124860Humanname
151739612CV1492338single nucleotide variantNM_001349884.2(DRAM2):c.278A>G (p.Lys93Arg)Inborn genetic diseases [RCV003346711]|not provided [RCV002042102]uncertain significance1111124803111124803Human1name
151867757CV1493723single nucleotide variantNM_001349884.2(DRAM2):c.238G>C (p.Ala80Pro)not provided [RCV001960035]uncertain significance1111124843111124843Humanname
151812777CV1498181duplicationNM_001349884.2(DRAM2):c.642dup (p.Met215fs)not provided [RCV001953993]pathogenic|uncertain significance1111118855111118856Humanname
151718186CV1513426single nucleotide variantNM_001349884.2(DRAM2):c.134A>G (p.Asp45Gly)Cone-rod dystrophy 21 [RCV005253923]|not provided [RCV001890662]uncertain significance1111126292111126292Human2name
151770926CV1514808single nucleotide variantNM_001349884.2(DRAM2):c.259G>A (p.Val87Ile)not provided [RCV002045236]uncertain significance1111124822111124822Humanname
10047040CV190037single nucleotide variantNM_001349884.2(DRAM2):c.131G>A (p.Ser44Asn)Cone-rod dystrophy 21 [RCV000186603]|Retinal dystrophy [RCV000172837]pathogenic1111131424111131424Human4name
156233280CV1965808single nucleotide variantNM_001349884.2(DRAM2):c.107T>C (p.Ile36Thr)not provided [RCV002596885]uncertain significance1111131448111131448Humanname
156097383CV2010841single nucleotide variantNM_001349884.2(DRAM2):c.104A>G (p.His35Arg)not provided [RCV002695171]uncertain significance1111131451111131451Humanname
156368246CV2021088single nucleotide variantNM_001349884.2(DRAM2):c.236A>G (p.His79Arg)not provided [RCV002721331]uncertain significance1111124845111124845Humanname
156377375CV2024858single nucleotide variantNM_001349884.2(DRAM2):c.292C>T (p.Leu98Phe)not provided [RCV002722034]uncertain significance1111124789111124789Humanname
156311768CV2063463single nucleotide variantNM_001349884.2(DRAM2):c.214T>G (p.Tyr72Asp)not provided [RCV002834164]uncertain significance1111124867111124867Humanname
156116512CV2174005single nucleotide variantNM_001349884.2(DRAM2):c.206C>T (p.Ala69Val)not provided [RCV003055296]uncertain significance1111124875111124875Humanname
401775508CV2692398single nucleotide variantNM_001349884.2(DRAM2):c.143C>T (p.Thr48Ile)Inborn genetic diseases [RCV003286117]uncertain significance1111126283111126283Human1name
405713868CV3248071single nucleotide variantNM_001349884.2(DRAM2):c.163T>G (p.Leu55Val)Inborn genetic diseases [RCV004377026]uncertain significance1111126263111126263Human1name
405713501CV3248072single nucleotide variantNM_001349884.2(DRAM2):c.191C>G (p.Ala64Gly)Inborn genetic diseases [RCV004377027]uncertain significance1111126235111126235Human1name
405713508CV3248073single nucleotide variantNM_001349884.2(DRAM2):c.220C>T (p.Arg74Cys)Inborn genetic diseases [RCV004377028]uncertain significance1111124861111124861Human1name
596945810CV3409139single nucleotide variantNM_001349884.2(DRAM2):c.231A>T (p.Gln77His)Retinal dystrophy [RCV004818773]likely pathogenic1111124850111124850Human2name
597935396CV3807266single nucleotide variantNM_001349884.2(DRAM2):c.209C>T (p.Thr70Ile)not provided [RCV005157837]uncertain significance1111124872111124872Humanname
597968847CV3821277deletionNM_001349884.2(DRAM2):c.618del (p.Met206fs)not provided [RCV005165919]pathogenic1111118880111118880Humanname
38470233CV929955microsatelliteNM_001349884.2(DRAM2):c.5GGT[1] (p.Trp3del)Cone-rod dystrophy 21 [RCV005253742]|not provided [RCV001213512]uncertain significance1111131545111131547Humanname
126733342CV1002023single nucleotide variantNM_001349884.2(DRAM2):c.689T>G (p.Phe230Cys)not provided [RCV001313376]uncertain significance1111118809111118809Humanname
126769505CV1002024single nucleotide variantNM_001349884.2(DRAM2):c.328G>A (p.Ala110Thr)not provided [RCV001322000]uncertain significance1111124753111124753Humanname
126757509CV1002025single nucleotide variantNM_001349884.2(DRAM2):c.320C>G (p.Ser107Cys)Inborn genetic diseases [RCV004978309]|not provided [RCV001317509]uncertain significance1111124761111124761Human1name
126771008CV1022531single nucleotide variantNM_001349884.2(DRAM2):c.719A>G (p.Asn240Ser)Retinal dystrophy [RCV004815419]|not provided [RCV001344792]uncertain significance1111118242111118242Human2name
126754759CV1022532single nucleotide variantNM_001349884.2(DRAM2):c.626C>T (p.Thr209Ile)not provided [RCV001338893]uncertain significance1111118872111118872Humanname
126911501CV1039348single nucleotide variantNM_001349884.2(DRAM2):c.607G>A (p.Val203Met)Inborn genetic diseases [RCV004980392]|not provided [RCV001369242]uncertain significance1111118891111118891Human1name
150529636CV1289190deletionNM_001349884.2(DRAM2):c.98_99del (p.Leu33fs)Cone-rod dystrophy 21 [RCV001728030]likely pathogenic1111131456111131457Human2name
151724891CV1351001single nucleotide variantNM_001349884.2(DRAM2):c.678C>A (p.Tyr226Ter)not provided [RCV001891594]pathogenic|uncertain significance1111118820111118820Humanname
151861535CV1353761single nucleotide variantNM_001349884.2(DRAM2):c.502G>A (p.Val168Ile)not provided [RCV001959284]uncertain significance1111120531111120531Humanname
151717319CV1368353single nucleotide variantNM_001349884.2(DRAM2):c.479T>C (p.Leu160Pro)not provided [RCV001965419]uncertain significance1111120554111120554Humanname
151835652CV1374809single nucleotide variantNM_001349884.2(DRAM2):c.629C>T (p.Ala210Val)not provided [RCV001920946]uncertain significance1111118869111118869Humanname
151722041CV1389159single nucleotide variantNM_001349884.2(DRAM2):c.433C>A (p.Gln145Lys)not provided [RCV002040227]uncertain significance1111120600111120600Humanname
151790066CV1413319single nucleotide variantNM_001349884.2(DRAM2):c.581A>G (p.His194Arg)Inborn genetic diseases [RCV002564354]|not provided [RCV001989990]uncertain significance1111119896111119896Human1name
151841465CV1428696single nucleotide variantNM_001349884.2(DRAM2):c.638G>A (p.Trp213Ter)not provided [RCV001994803]pathogenic1111118860111118860Humanname
151711368CV1440050single nucleotide variantNM_001349884.2(DRAM2):c.760A>G (p.Ile254Val)not provided [RCV001908077]uncertain significance1111118201111118201Humanname
151730520CV1441280single nucleotide variantNM_001349884.2(DRAM2):c.539T>G (p.Leu180Trp)not provided [RCV001945999]uncertain significance1111119938111119938Humanname
151735179CV1465718single nucleotide variantNM_001349884.2(DRAM2):c.679A>G (p.Ile227Val)Inborn genetic diseases [RCV004980751]|not provided [RCV002041627]uncertain significance1111118819111118819Human1name
151713944CV1473295single nucleotide variantNM_001349884.2(DRAM2):c.386T>C (p.Phe129Ser)Inborn genetic diseases [RCV002552238]|not provided [RCV001889949]uncertain significance1111120647111120647Human1name
151815452CV1475754single nucleotide variantNM_001349884.2(DRAM2):c.415C>G (p.Gln139Glu)not provided [RCV001992239]uncertain significance1111120618111120618Humanname
151845324CV1489822single nucleotide variantNM_001349884.2(DRAM2):c.682C>T (p.Arg228Cys)not provided [RCV001881862]uncertain significance1111118816111118816Humanname
151721065CV1491656single nucleotide variantNM_001349884.2(DRAM2):c.731T>G (p.Leu244Ter)not provided [RCV002003675]pathogenic|uncertain significance1111118230111118230Humanname
151765733CV1495874single nucleotide variantNM_001349884.2(DRAM2):c.395G>A (p.Gly132Asp)Inborn genetic diseases [RCV005330936]|not provided [RCV001863584]uncertain significance1111120638111120638Human1name
151718803CV1505740single nucleotide variantNM_001349884.2(DRAM2):c.740A>G (p.Tyr247Cys)not provided [RCV002039754]uncertain significance1111118221111118221Humanname
151829116CV1514113single nucleotide variantNM_001349884.2(DRAM2):c.744C>G (p.Asp248Glu)not provided [RCV001955503]uncertain significance1111118217111118217Humanname
10046731CV190033single nucleotide variantNM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter)Cone-rod dystrophy 21 [RCV000186602]|Retinal dystrophy [RCV000172838]|not provided [RCV001243723]pathogenic1111120539111120539Human4name
10047039CV190034single nucleotide variantNM_001349884.2(DRAM2):c.362A>T (p.His121Leu)Cone-rod dystrophy 21 [RCV000186605]|Retinal dystrophy [RCV000172836]pathogenic1111120671111120671Human4name
156317634CV1971299single nucleotide variantNM_001349884.2(DRAM2):c.625A>G (p.Thr209Ala)not provided [RCV002630152]uncertain significance1111118873111118873Humanname
156413725CV1979111single nucleotide variantNM_001349884.2(DRAM2):c.725A>G (p.His242Arg)not provided [RCV002608927]uncertain significance1111118236111118236Humanname
155906907CV1983263single nucleotide variantNM_001349884.2(DRAM2):c.772C>T (p.Arg258Ter)not provided [RCV002613728]uncertain significance1111118189111118189Humanname
156351749CV1985667single nucleotide variantNM_001349884.2(DRAM2):c.727G>A (p.Gly243Arg)not provided [RCV002632026]uncertain significance1111118234111118234Humanname
156227384CV2048406single nucleotide variantNM_001349884.2(DRAM2):c.779G>A (p.Arg260Gln)Inborn genetic diseases [RCV004973649]|not provided [RCV002790864]uncertain significance1111118182111118182Human1name
155940150CV2071563single nucleotide variantNM_001349884.2(DRAM2):c.745A>C (p.Thr249Pro)not provided [RCV002861719]uncertain significance1111118216111118216Humanname
156126877CV2104193single nucleotide variantNM_001349884.2(DRAM2):c.740A>C (p.Tyr247Ser)not provided [RCV002914394]uncertain significance1111118221111118221Humanname
156240932CV2177119single nucleotide variantNM_001349884.2(DRAM2):c.333C>A (p.Asn111Lys)not provided [RCV003043440]uncertain significance1111124748111124748Humanname
156138296CV2177701single nucleotide variantNM_001349884.2(DRAM2):c.574A>G (p.Lys192Glu)not provided [RCV003039946]uncertain significance1111119903111119903Humanname
156279765CV2186770single nucleotide variantNM_001349884.2(DRAM2):c.487G>A (p.Val163Ile)not provided [RCV003044741]uncertain significance1111120546111120546Humanname
156195364CV2251842single nucleotide variantNM_001349884.2(DRAM2):c.548G>A (p.Gly183Asp)Inborn genetic diseases [RCV002803113]uncertain significance1111119929111119929Human1name
402507544CV2944482single nucleotide variantNM_001349884.2(DRAM2):c.701C>A (p.Ser234Tyr)not provided [RCV003662219]uncertain significance1111118260111118260Humanname
402498295CV3015897single nucleotide variantNM_001349884.2(DRAM2):c.323T>G (p.Ile108Ser)not provided [RCV003688231]uncertain significance1111124758111124758Humanname
405107380CV3136276single nucleotide variantNM_001349884.2(DRAM2):c.439C>T (p.Gln147Ter)not provided [RCV003835622]pathogenic1111120594111120594Humanname
11634359CV354157single nucleotide variantNM_001349884.2(DRAM2):c.568G>T (p.Glu190Ter)Cone-rod dystrophy 21 [RCV000408797]likely pathogenic1111119909111119909Human2name
617153512CV3703408single nucleotide variantNM_001349884.2(DRAM2):c.314G>T (p.Gly105Val)End-stage retinitis pigmentosa [RCV005419803]likely pathogenic1111124767111124767Humanname
597943050CV3780075single nucleotide variantNM_001349884.2(DRAM2):c.601G>A (p.Gly201Ser)not provided [RCV005119084]uncertain significance1111118897111118897Humanname
597944847CV3812832single nucleotide variantNM_001349884.2(DRAM2):c.571C>T (p.Gln191Ter)not provided [RCV005159845]pathogenic1111119906111119906Humanname
598187477CV3960972single nucleotide variantNM_001349884.2(DRAM2):c.617T>C (p.Met206Thr)Inborn genetic diseases [RCV005334214]uncertain significance1111118881111118881Human1name
598187480CV3960973single nucleotide variantNM_001349884.2(DRAM2):c.652T>C (p.Ser218Pro)Inborn genetic diseases [RCV005334215]uncertain significance1111118846111118846Human1name
12898800CV404880single nucleotide variantNM_001349884.2(DRAM2):c.419C>G (p.Thr140Ser)not provided [RCV000478714]uncertain significance1111120614111120614Humanname
15155726CV706568single nucleotide variantNM_001349884.2(DRAM2):c.778C>T (p.Arg260Trp)not provided [RCV000968977]benign1111118183111118183Humanname
26904617CV822504single nucleotide variantNM_001349884.2(DRAM2):c.737T>C (p.Leu246Pro)Cone-rod dystrophy 21 [RCV001727838]|Retinal dystrophy [RCV004813715]|not provided [RCV001070897]pathogenic|conflicting interpretations of pathogenicity|uncertain significance1111118224111118224Human4name
26892837CV822505duplicationNM_001349884.2(DRAM2):c.677dup (p.Tyr226Ter)not provided [RCV001062198]pathogenic|uncertain significance1111118820111118821Humanname
26919806CV822506single nucleotide variantNM_001349884.2(DRAM2):c.632C>G (p.Ala211Gly)Inborn genetic diseases [RCV002553144]|not provided [RCV001046416]uncertain significance1111118866111118866Human1name
26919130CV822507single nucleotide variantNM_001349884.2(DRAM2):c.483G>T (p.Leu161Phe)Inborn genetic diseases [RCV004973280]|not provided [RCV001044873]uncertain significance1111120550111120550Human1name
26915705CV822508single nucleotide variantNM_001349884.2(DRAM2):c.403T>C (p.Tyr135His)not provided [RCV001039320]uncertain significance1111120630111120630Humanname
26920014CV822509single nucleotide variantNM_001349884.2(DRAM2):c.322A>G (p.Ile108Val)Inborn genetic diseases [RCV004031455]|not provided [RCV001046808]likely benign|uncertain significance1111124759111124759Human1name
28880812CV858827single nucleotide variantNM_001349884.2(DRAM2):c.683G>A (p.Arg228His)not provided [RCV001092062]uncertain significance1111118815111118815Humanname
126761752CV986805single nucleotide variantNM_001349884.2(DRAM2):c.707G>A (p.Arg236Gln)not provided [RCV001300187]uncertain significance1111118254111118254Humanname
126762149CV986807single nucleotide variantNM_001349884.2(DRAM2):c.571C>G (p.Gln191Glu)not provided [RCV001309804]uncertain significance1111119906111119906Humanname
10047036CV190039microsatelliteNM_001349884.2(DRAM2):c.61GCT[1] (p.Ala22del)Cone-rod dystrophy 21 [RCV000186604]|Retinal dystrophy [RCV000172833]pathogenic1111131489111131491Humanname
405211759CV2974340microsatelliteNM_001349884.2(DRAM2):c.263TCA[1] (p.Ile89del)not provided [RCV003679500]uncertain significance1111124813111124815Humanname
10047038CV190035deletionNM_001349884.2(DRAM2):c.217_225del (p.Val73_Tyr75del)Retinal dystrophy [RCV000172835]pathogenic1111124856111124864Human2name
156119824CV2055255indelNM_001349884.2(DRAM2):c.440_441delinsCC (p.Gln147Pro)not provided [RCV002825254]uncertain significance1111120592111120593Humanname