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Variants search result for All species
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318 records found for search term Dpp6
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150509586CV1247348deletionNM_130797.4(DPP6):c.-88delnot provided [RCV001659375]benign7154052721154052721Humanname
150337809CV1171692single nucleotide variantNM_130797.4(DPP6):c.-153C>Tnot provided [RCV001541862]benign7154052668154052668Humanname
150445319CV1215473single nucleotide variantNM_130797.4(DPP6):c.*113T>Anot provided [RCV001611066]benign7154892593154892593Humanname
150484971CV1222607single nucleotide variantNM_130797.4(DPP6):c.883+9T>CDPP6-related disorder [RCV003921276]|not provided [RCV001617610]benign7154727896154727896Human1name , trait , alternate_id
150439990CV1287121single nucleotide variantNM_130797.4(DPP6):c.458-4A>Gnot provided [RCV001725036]benign7154540528154540528Humanname
150520491CV1289691single nucleotide variantNM_130797.4(DPP6):c.244-1G>AHP:0000729 Autistic spectrum disorder [RCV004704643]pathogenic|uncertain significance7154446213154446213Humanname
243058153CV2412316single nucleotide variantNM_130797.4(DPP6):c.457+3G>AIntellectual disability, autosomal dominant 33 [RCV003146858]uncertain significance7154475040154475040Human1name
401909103CV2823429single nucleotide variantNM_130797.4(DPP6):c.680+6A>Gnot provided [RCV003423862]uncertain significance7154637879154637879Humanname
405287915CV3214680single nucleotide variantNM_130797.4(DPP6):c.458-9C>GDPP6-related disorder [RCV003924664]likely benign7154540523154540523Humanname , trait , alternate_id
405278450CV3216654single nucleotide variantNM_130797.4(DPP6):c.457+9A>GDPP6-related disorder [RCV003954551]likely benign7154475046154475046Humanname , trait , alternate_id
408366661CV3512027single nucleotide variantNM_130797.4(DPP6):c.628-9C>TDPP6-related disorder [RCV004756819]likely benign7154637812154637812Humanname , trait , alternate_id
596946448CV3548268single nucleotide variantNM_130797.4(DPP6):c.763-6A>Cnot provided [RCV004810093]benign7154727761154727761Humanname
150334831CV1164309single nucleotide variantNM_130797.4(DPP6):c.2304+3G>Anot provided [RCV004713025]|not specified [RCV001529898]benign7154887737154887737Humanname
150517049CV1227786deletionNM_130797.4(DPP6):c.243+13delnot provided [RCV001639589]benign7154053076154053076Humanname
150465884CV1240316single nucleotide variantNM_130797.4(DPP6):c.243+86T>Gnot provided [RCV001650077]benign7154053149154053149Humanname
150446372CV1278305single nucleotide variantNM_130797.4(DPP6):c.358+30C>Tnot provided [RCV001707448]benign7154446358154446358Humanname
150505046CV1286089single nucleotide variantNM_130797.4(DPP6):c.680+74T>Cnot provided [RCV001719512]benign7154637947154637947Humanname
150505126CV1286109single nucleotide variantNM_130797.4(DPP6):c.457+32G>Anot provided [RCV001719532]benign7154475069154475069Humanname
9832321CV178581single nucleotide variantNM_130797.4(DPP6):c.2246-6G>ACollapse (finding) [RCV000157169]uncertain significance7154887670154887670Human2name
401923791CV2823437single nucleotide variantNM_130797.4(DPP6):c.1714+7G>Cnot provided [RCV003435363]uncertain significance7154853834154853834Humanname
405282547CV3212934single nucleotide variantNM_130797.4(DPP6):c.2378-7T>GDPP6-related disorder [RCV003957051]likely benign7154889450154889450Humanname , trait , alternate_id
405279626CV3217625single nucleotide variantNM_130797.4(DPP6):c.2451+9C>TDPP6-related disorder [RCV003976993]likely benign7154889539154889539Humanname , trait , alternate_id
407502763CV3495712duplicationNM_130797.4(DPP6):c.1714+2dupnot provided [RCV004697552]uncertain significance7154853828154853829Humanname
597831958CV3864010single nucleotide variantNM_130797.4(DPP6):c.1667-4A>GVentricular fibrillation, paroxysmal familial, 2 [RCV005208426]uncertain significance7154853776154853776Human1name
13828428CV578456single nucleotide variantNM_130797.4(DPP6):c.1714+1G>TVentricular fibrillation, paroxysmal familial, type 1 [RCV000714733]uncertain significance7154853828154853828Human1name
21071697CV790713single nucleotide variantNM_130797.4(DPP6):c.2304+2T>CIntellectual disability, autosomal dominant 33 [RCV000988024]uncertain significance7154887736154887736Human1name
21069685CV796013single nucleotide variantNM_130797.4(DPP6):c.1666+8C>Tnot provided [RCV000998970]likely benign7154807120154807120Humanname
40889598CV972655single nucleotide variantNM_130797.4(DPP6):c.1547+4A>GNeurodevelopmental abnormality [RCV001264644]likely benign7154804968154804968Human2name
150336492CV1164970single nucleotide variantNM_130797.4(DPP6):c.458-261A>Gnot provided [RCV001530869]benign7154540271154540271Humanname
150510863CV1210601single nucleotide variantNM_130797.4(DPP6):c.628-306C>Gnot provided [RCV001597780]benign7154637515154637515Humanname
150510377CV1211619single nucleotide variantNM_130797.4(DPP6):c.458-203A>Gnot provided [RCV001597411]benign7154540329154540329Humanname
150502598CV1212273single nucleotide variantNM_130797.4(DPP6):c.2078+97C>Tnot provided [RCV001595146]benign7154876197154876197Humanname
150475071CV1217894single nucleotide variantNM_130797.4(DPP6):c.2079-47G>Cnot provided [RCV001615905]benign7154880841154880841Humanname
150457606CV1219638single nucleotide variantNM_130797.4(DPP6):c.552+131T>Cnot provided [RCV001612854]benign7154540757154540757Humanname
150494983CV1224992single nucleotide variantNM_130797.4(DPP6):c.2078+32G>Anot provided [RCV001619470]benign7154876132154876132Humanname
150487482CV1225916single nucleotide variantNM_130797.4(DPP6):c.762+140G>Anot provided [RCV001618077]benign7154669581154669581Humanname
150515699CV1227640single nucleotide variantNM_130797.4(DPP6):c.2133+10C>Tnot provided [RCV001638914]benign7154880952154880952Humanname
150517107CV1227844single nucleotide variantNM_130797.4(DPP6):c.2246-84T>Cnot provided [RCV001639647]benign7154887592154887592Humanname
150513289CV1228958single nucleotide variantNM_130797.4(DPP6):c.763-303G>Anot provided [RCV001637800]benign7154727464154727464Humanname
150454602CV1232304single nucleotide variantNM_130797.4(DPP6):c.680+238G>Tnot provided [RCV001648317]benign7154638111154638111Humanname
150473361CV1234266single nucleotide variantNM_130797.4(DPP6):c.1548-65G>Anot provided [RCV001651585]benign7154806929154806929Humanname
150431254CV1235386single nucleotide variantNM_130797.4(DPP6):c.358+144T>Cnot provided [RCV001641756]benign7154446472154446472Humanname
150463539CV1237647single nucleotide variantNM_130797.4(DPP6):c.1261-48G>Anot provided [RCV001649653]benign7154795797154795797Humanname
150501059CV1238307single nucleotide variantNM_130797.4(DPP6):c.883+296G>Anot provided [RCV001656737]benign7154728183154728183Humanname
150467062CV1240514duplicationNM_130797.4(DPP6):c.243+172dupnot provided [RCV001650275]benign7154053234154053235Humanname
150511440CV1242715single nucleotide variantNM_130797.4(DPP6):c.2305-72G>Tnot provided [RCV001661067]benign7154889200154889200Humanname
150442155CV1246846single nucleotide variantNM_130797.4(DPP6):c.1813+97A>Gnot provided [RCV001666500]benign7154868190154868190Humanname
150471104CV1248152single nucleotide variantNM_130797.4(DPP6):c.681-291T>Gnot provided [RCV001671189]benign7154669069154669069Humanname
150442953CV1249204single nucleotide variantNM_130797.4(DPP6):c.2078+26G>Anot provided [RCV001666636]benign7154876126154876126Humanname
150488925CV1250458single nucleotide variantNM_130797.4(DPP6):c.553-202T>Anot provided [RCV001674419]benign7154566640154566640Humanname
150492015CV1253857single nucleotide variantNM_130797.4(DPP6):c.883+295C>Tnot provided [RCV001674953]benign7154728182154728182Humanname
150470888CV1258687single nucleotide variantNM_130797.4(DPP6):c.1666+86A>Gnot provided [RCV001684233]benign7154807198154807198Humanname
150457308CV1260120single nucleotide variantNM_130797.4(DPP6):c.1408-37C>Tnot provided [RCV001681600]benign7154803827154803827Humanname
150483965CV1263080deletionNM_130797.4(DPP6):c.1136+40delnot provided [RCV001686480]benign7154772968154772968Humanname
150458803CV1265191single nucleotide variantNM_130797.4(DPP6):c.680+263A>Gnot provided [RCV001681825]benign7154638136154638136Humanname
150475472CV1271197single nucleotide variantNM_130797.4(DPP6):c.552+229G>Anot provided [RCV001696020]benign7154540855154540855Humanname
150460527CV1275834single nucleotide variantNM_130797.4(DPP6):c.680+221C>Gnot provided [RCV001709772]benign7154638094154638094Humanname
150499816CV1283015duplicationNM_130797.4(DPP6):c.1261-49dupnot provided [RCV001718263]benign7154795784154795785Humanname
150505079CV1286097single nucleotide variantNM_130797.4(DPP6):c.1667-84A>Gnot provided [RCV001719520]benign7154853696154853696Humanname
150505099CV1286102single nucleotide variantNM_130797.4(DPP6):c.2133+27A>Tnot provided [RCV001719525]benign7154880969154880969Humanname
150505103CV1286103single nucleotide variantNM_130797.4(DPP6):c.2133+65G>Anot provided [RCV001719526]benign7154881007154881007Humanname
150505357CV1286168single nucleotide variantNM_130797.4(DPP6):c.1300-18C>Anot provided [RCV001719593]benign7154801337154801337Humanname
150505367CV1286170single nucleotide variantNM_130797.4(DPP6):c.2133+51G>Anot provided [RCV001719595]benign7154880993154880993Humanname
150505439CV1286189single nucleotide variantNM_130797.4(DPP6):c.1714+39C>Tnot provided [RCV001719614]benign7154853866154853866Humanname
150505472CV1286198single nucleotide variantNM_130797.4(DPP6):c.553-113C>Tnot provided [RCV001719623]benign7154566729154566729Humanname
150439999CV1287122single nucleotide variantNM_130797.4(DPP6):c.458-159A>Gnot provided [RCV001725037]benign7154540373154540373Humanname
150440016CV1287124single nucleotide variantNM_130797.4(DPP6):c.1666+89G>Tnot provided [RCV001725039]benign7154807201154807201Humanname
150440028CV1287125single nucleotide variantNM_130797.4(DPP6):c.1813+86C>Gnot provided [RCV001725040]benign7154868179154868179Humanname
150440248CV1287156single nucleotide variantNM_130797.4(DPP6):c.1547+93C>Tnot provided [RCV001725071]benign7154805057154805057Humanname
155267640CV1705040single nucleotide variantNM_130797.4(DPP6):c.2134-11G>Anot provided [RCV002285645]likely benign7154885622154885622Humanname
401937967CV2797297single nucleotide variantNM_130797.4(DPP6):c.1299+68G>ADPP6-related disorder [RCV003417064]uncertain significance7154795951154795951Humanname , trait , alternate_id
405260659CV3204204single nucleotide variantNM_130797.4(DPP6):c.1299+18G>ADPP6-related disorder [RCV003944064]likely benign7154795901154795901Humanname , trait , alternate_id
405293820CV3214506single nucleotide variantNM_130797.4(DPP6):c.1299+51C>TDPP6-related disorder [RCV003932183]likely benign7154795934154795934Humanname , trait , alternate_id
616933468CV4011521single nucleotide variantNM_130797.4(DPP6):c.-165110G>Anot specified [RCV005407602]uncertain significance7153887711153887711Humanname
150340203CV1168114single nucleotide variantNM_130797.4(DPP6):c.1260+156C>Tnot provided [RCV001535106]benign7154794358154794358Humanname
150335235CV1171693single nucleotide variantNM_130797.4(DPP6):c.2304+167A>Cnot provided [RCV001540468]benign7154887901154887901Humanname
150510751CV1210561single nucleotide variantNM_130797.4(DPP6):c.1260+103G>Cnot provided [RCV001597740]benign7154794305154794305Humanname
150510330CV1211572single nucleotide variantNM_130797.4(DPP6):c.1547+310C>Tnot provided [RCV001597364]benign7154805274154805274Humanname
150510513CV1211743single nucleotide variantNM_130797.4(DPP6):c.1813+168A>Gnot provided [RCV001597638]benign7154868261154868261Humanname
150434320CV1215860single nucleotide variantNM_130797.4(DPP6):c.2304+166G>Cnot provided [RCV001609048]benign7154887900154887900Humanname
150477618CV1218651single nucleotide variantNM_130797.4(DPP6):c.2451+143T>Cnot provided [RCV001616278]benign7154889673154889673Humanname
150515246CV1227494single nucleotide variantNM_130797.4(DPP6):c.2451+123A>Tnot provided [RCV001638767]benign7154889653154889653Humanname
150515983CV1227731single nucleotide variantNM_130797.4(DPP6):c.1715-139T>Gnot provided [RCV001639006]benign7154867856154867856Humanname
150511212CV1229390single nucleotide variantNM_130797.4(DPP6):c.1715-163G>Anot provided [RCV001637319]benign7154867832154867832Humanname
150460923CV1231411single nucleotide variantNM_130797.4(DPP6):c.1260+332G>Anot provided [RCV001640976]benign7154794534154794534Humanname
150430226CV1232072single nucleotide variantNM_130797.4(DPP6):c.2133+187C>Tnot provided [RCV001641334]benign7154881129154881129Humanname
150443213CV1232548single nucleotide variantNM_130797.4(DPP6):c.1883+271G>Anot provided [RCV001645516]benign7154872964154872964Humanname
150475148CV1234553single nucleotide variantNM_130797.4(DPP6):c.1547+311G>Anot provided [RCV001651873]benign7154805275154805275Humanname
150498946CV1235651single nucleotide variantNM_130797.4(DPP6):c.2245+285G>Anot provided [RCV001656334]benign7154886029154886029Humanname
150458901CV1236004single nucleotide variantNM_130797.4(DPP6):c.1300-199T>Gnot provided [RCV001648975]benign7154801156154801156Humanname
150432350CV1236731single nucleotide variantNM_130797.4(DPP6):c.1261-188G>Anot provided [RCV001642136]benign7154795657154795657Humanname
150489019CV1237574single nucleotide variantNM_130797.4(DPP6):c.1300-296G>Anot provided [RCV001654423]benign7154801059154801059Humanname
150480649CV1239623single nucleotide variantNM_130797.4(DPP6):c.2079-306C>Tnot provided [RCV001652786]benign7154880582154880582Humanname
150502307CV1241210single nucleotide variantNM_130797.4(DPP6):c.1039-221G>Anot provided [RCV001657106]benign7154772624154772624Humanname
150503021CV1241705single nucleotide variantNM_130797.4(DPP6):c.1299+147A>GDPP6-related disorder [RCV003975816]|not provided [RCV001657296]benign7154796030154796030Human1name , trait , alternate_id
150482283CV1247429single nucleotide variantNM_130797.4(DPP6):c.1715-138T>Gnot provided [RCV001673254]benign7154867857154867857Humanname
150438903CV1247644single nucleotide variantNM_130797.4(DPP6):c.1715-154A>Cnot provided [RCV001666011]benign7154867841154867841Humanname
150509911CV1248420single nucleotide variantNM_130797.4(DPP6):c.1813+265A>Tnot provided [RCV001659488]benign7154868358154868358Humanname
150442832CV1249183single nucleotide variantNM_130797.4(DPP6):c.1299+200A>GDPP6-related disorder [RCV003975867]|not provided [RCV001666615]benign7154796083154796083Human1name , trait , alternate_id
150444184CV1249380single nucleotide variantNM_130797.4(DPP6):c.1884-143A>Gnot provided [RCV001666812]benign7154875763154875763Humanname
150436731CV1249741single nucleotide variantNM_130797.4(DPP6):c.1715-140T>Cnot provided [RCV001665655]benign7154867855154867855Humanname
150509840CV1249984single nucleotide variantNM_130797.4(DPP6):c.1300-279C>Tnot provided [RCV001659457]benign7154801076154801076Humanname
150444641CV1258548single nucleotide variantNM_130797.4(DPP6):c.2134-258G>Anot provided [RCV001679746]benign7154885375154885375Humanname
150470809CV1258667single nucleotide variantNM_130797.4(DPP6):c.2133+157G>Anot provided [RCV001684213]benign7154881099154881099Humanname
150470898CV1258689single nucleotide variantNM_130797.4(DPP6):c.2078+172G>Anot provided [RCV001684235]benign7154876272154876272Humanname
150441892CV1265855single nucleotide variantNM_130797.4(DPP6):c.1039-223C>Tnot provided [RCV001690580]benign7154772622154772622Humanname
150436169CV1270917single nucleotide variantNM_130797.4(DPP6):c.1884-259C>Anot provided [RCV001689467]benign7154875647154875647Humanname
150446561CV1271886single nucleotide variantNM_130797.4(DPP6):c.1260+292C>Gnot provided [RCV001691300]benign7154794494154794494Humanname
150484313CV1280418single nucleotide variantNM_130797.4(DPP6):c.2304+259T>Cnot provided [RCV001715349]benign7154887993154887993Humanname
150505055CV1286091single nucleotide variantNM_130797.4(DPP6):c.1500-110G>Anot provided [RCV001719514]benign7154804807154804807Humanname
150505063CV1286093single nucleotide variantNM_130797.4(DPP6):c.1300-100C>Tnot provided [RCV001719516]benign7154801255154801255Humanname
150505067CV1286094single nucleotide variantNM_130797.4(DPP6):c.1407+206C>Anot provided [RCV001719517]benign7154801668154801668Humanname
150505071CV1286095single nucleotide variantNM_130797.4(DPP6):c.1666+189G>Anot provided [RCV001719518]benign7154807301154807301Humanname
150505075CV1286096single nucleotide variantNM_130797.4(DPP6):c.1666+181A>Gnot provided [RCV001719519]benign7154807293154807293Humanname
150505327CV1286160single nucleotide variantNM_130797.4(DPP6):c.1883+107C>Tnot provided [RCV001719585]benign7154872800154872800Humanname
150505335CV1286162single nucleotide variantNM_130797.4(DPP6):c.1883+131C>Gnot provided [RCV001719587]benign7154872824154872824Humanname
150505347CV1286165single nucleotide variantNM_130797.4(DPP6):c.2078+109T>Gnot provided [RCV001719590]benign7154876209154876209Humanname
150505351CV1286166single nucleotide variantNM_130797.4(DPP6):c.1884-217T>Cnot provided [RCV001719591]benign7154875689154875689Humanname
150505556CV1286220single nucleotide variantNM_130797.4(DPP6):c.2245+198A>Gnot provided [RCV001719645]benign7154885942154885942Humanname
150505564CV1286222single nucleotide variantNM_130797.4(DPP6):c.2304+147G>Anot provided [RCV001719647]benign7154887881154887881Humanname
401909098CV2823420single nucleotide variantNM_130797.4(DPP6):c.243+5629A>Gnot provided [RCV003423858]benign7154058692154058692Humanname
401923775CV2823421single nucleotide variantNM_130797.4(DPP6):c.243+7980G>Anot provided [RCV003435352]benign7154061043154061043Humanname
405267474CV3219304single nucleotide variantNM_130797.4(DPP6):c.1299+179C>GDPP6-related disorder [RCV003969563]likely benign7154796062154796062Humanname , trait , alternate_id
150511519CV1212766microsatelliteNM_130797.4(DPP6):c.762+98TG[11]not provided [RCV001597998]benign7154669539154669544Humanname
150463195CV1214751single nucleotide variantNM_130797.4(DPP6):c.627+20891C>Tnot provided [RCV001613745]benign7154587807154587807Humanname
150446244CV1215629single nucleotide variantNM_130797.4(DPP6):c.627+21362G>Anot provided [RCV001611222]benign7154588278154588278Humanname
150506353CV1226326single nucleotide variantNM_130797.4(DPP6):c.627+20608T>Cnot provided [RCV001635694]benign7154587524154587524Human3name
150506353CV1226326single nucleotide variantNM_130797.4(DPP6):c.627+20608T>Cnot provided [RCV001635694]benign7154587524154587525Human3name
150430011CV1231887single nucleotide variantNM_130797.4(DPP6):c.627+21113C>Tnot provided [RCV001641148]benign7154588029154588029Humanname
150505035CV1286086microsatelliteNM_130797.4(DPP6):c.762+98TG[12]not provided [RCV001719509]benign7154669539154669542Humanname
11087745CV227765single nucleotide variantNM_130797.4(DPP6):c.244-71279T>Cantipsychotics response - Toxicity/ADR [RCV000211349]drug response7154374935154374935Humanname
401923777CV2823422single nucleotide variantNM_130797.4(DPP6):c.243+11150C>Anot provided [RCV003435353]likely benign7154064213154064213Humanname
401923778CV2823423single nucleotide variantNM_130797.4(DPP6):c.627+20797G>ADPP6-related disorder [RCV003929173]|not provided [RCV003435354]benign7154587713154587713Human1name , trait , alternate_id
401909099CV2823424single nucleotide variantNM_130797.4(DPP6):c.627+20824C>Tnot provided [RCV003423859]uncertain significance7154587740154587740Humanname
401923780CV2823425single nucleotide variantNM_130797.4(DPP6):c.627+21029G>Anot provided [RCV003435355]likely benign7154587945154587945Humanname
401909100CV2823426single nucleotide variantNM_130797.4(DPP6):c.627+21039A>Gnot provided [RCV003423860]likely benign7154587955154587955Humanname
401909102CV2823427single nucleotide variantNM_130797.4(DPP6):c.627+21114G>ADPP6-related disorder [RCV003908960]|not provided [RCV003423861]likely benign7154588030154588030Human1name , trait , alternate_id
405869523CV2832031single nucleotide variantNM_130797.4(DPP6):c.627+21098C>Gnot provided [RCV004573042]uncertain significance7154588014154588014Humanname
405261696CV3186231single nucleotide variantNM_130797.4(DPP6):c.627+20879G>Anot provided [RCV003885307]likely benign7154587795154587795Humanname
405287988CV3203458single nucleotide variantNM_130797.4(DPP6):c.627+21020C>TDPP6-related disorder [RCV003924646]benign7154587936154587936Humanname , trait , alternate_id
405289601CV3220814single nucleotide variantNM_130797.4(DPP6):c.627+21099G>ADPP6-related disorder [RCV003961845]benign7154588015154588015Humanname , trait , alternate_id
408380481CV3501150single nucleotide variantNM_130797.4(DPP6):c.627+20255G>Tnot provided [RCV004727238]benign7154587171154587171Humanname
408366453CV3510560single nucleotide variantNM_130797.4(DPP6):c.627+20753G>ADPP6-related disorder [RCV004756727]likely benign7154587669154587669Humanname , trait , alternate_id
408366752CV3515962deletionNM_130797.4(DPP6):c.627+20893delDPP6-related disorder [RCV004756993]uncertain significance7154587808154587808Humanname , trait , alternate_id
21071694CV790711single nucleotide variantNM_130797.4(DPP6):c.627+21101A>GIntellectual disability, autosomal dominant 33 [RCV000988022]|not provided [RCV001729776]|not specified [RCV001729777]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance7154588017154588017Human1name
21069681CV796009single nucleotide variantNM_130797.4(DPP6):c.627+20831G>Tnot provided [RCV000998966]uncertain significance7154587747154587747Humanname
21069682CV796010single nucleotide variantNM_130797.4(DPP6):c.627+20957T>Cnot provided [RCV000998967]uncertain significance7154587873154587873Humanname
150472717CV1217226single nucleotide variantNM_130797.4(DPP6):c.244-141092G>Anot provided [RCV001615521]benign7154305122154305122Humanname
150468875CV1243066single nucleotide variantNM_130797.4(DPP6):c.244-140444T>Cnot provided [RCV001650584]benign7154305770154305770Humanname
8565832CV31833single nucleotide variantNM_130797.4(DPP6):c.244-141059C>TVentricular fibrillation, paroxysmal familial, 2 [RCV000018285]|not provided [RCV001698943]pathogenic|risk factor7154305155154305155Human1name
408380232CV3510621deletionNM_001364501.2(DPP6):c.49_51+7delDPP6-related disorder [RCV004756735]uncertain significance7153887729153887738Humanname , trait , alternate_id
8594807CV125345single nucleotide variantNM_001039350.2(DPP6):c.51+38381C>TLung cancer [RCV000105864]uncertain significance7153926115153926115Humanname
8590652CV125346single nucleotide variantNM_001039350.2(DPP6):c.51+40280C>ALung cancer [RCV000105865]uncertain significance7153928014153928014Humanname
8590653CV125347single nucleotide variantNM_001039350.2(DPP6):c.51+42184C>ALung cancer [RCV000105866]uncertain significance7153929918153929918Humanname
8594808CV125348single nucleotide variantNM_001039350.2(DPP6):c.51+47858C>TLung cancer [RCV000105867]uncertain significance7153935592153935592Humanname
8590660CV125360single nucleotide variantNM_001039350.2(DPP6):c.52-85786G>CLung cancer [RCV000105879]uncertain significance7154360428154360428Humanname
8590661CV125361single nucleotide variantNM_001039350.2(DPP6):c.52-13131G>ALung cancer [RCV000105880]uncertain significance7154433083154433083Humanname
8590662CV125362single nucleotide variantNM_001039350.2(DPP6):c.435+1741G>TLung cancer [RCV000105881]uncertain significance7154568657154568657Humanname
8594815CV125364single nucleotide variantNM_001039350.2(DPP6):c.570+5702G>TLung cancer [RCV000105883]uncertain significance7154675143154675143Humanname
8594818CV125368single nucleotide variantNM_001039350.2(DPP6):c.691+6394G>TLung cancer [RCV000105887]uncertain significance7154734281154734281Humanname
8590664CV125370single nucleotide variantNM_001039350.2(DPP6):c.944+5620C>TLung cancer [RCV000105889]uncertain significance7154778562154778562Humanname
150502721CV1223289single nucleotide variantNM_001039350.3(DPP6):c.51+164385C>Gnot provided [RCV001621223]benign7154052119154052119Humanname
8594809CV125349single nucleotide variantNM_001039350.2(DPP6):c.51+180801G>ALung cancer [RCV000105868]uncertain significance7154068535154068535Humanname
8594810CV125350single nucleotide variantNM_001039350.2(DPP6):c.51+197980A>GLung cancer [RCV000105869]uncertain significance7154085714154085714Humanname
8590654CV125351single nucleotide variantNM_001039350.2(DPP6):c.51+232997G>TLung cancer [RCV000105870]uncertain significance7154120731154120731Humanname
8590655CV125352single nucleotide variantNM_001039350.2(DPP6):c.51+238023A>GLung cancer [RCV000105871]uncertain significance7154125757154125757Humanname
8590656CV125353single nucleotide variantNM_001039350.2(DPP6):c.51+263249G>CLung cancer [RCV000105872]uncertain significance7154150983154150983Humanname
8590657CV125354single nucleotide variantNM_001039350.2(DPP6):c.52-222549G>ALung cancer [RCV000105873]uncertain significance7154223665154223665Humanname
8594811CV125355single nucleotide variantNM_001039350.2(DPP6):c.52-217800A>TLung cancer [RCV000105874]uncertain significance7154228414154228414Humanname
8594812CV125356single nucleotide variantNM_001039350.2(DPP6):c.52-187073A>GLung cancer [RCV000105875]uncertain significance7154259141154259141Humanname
8590658CV125357single nucleotide variantNM_001039350.2(DPP6):c.52-125782C>GLung cancer [RCV000105876]uncertain significance7154320432154320432Humanname
8590659CV125358single nucleotide variantNM_001039350.2(DPP6):c.52-111518G>CLung cancer [RCV000105877]uncertain significance7154334696154334696Humanname
8594813CV125359single nucleotide variantNM_001039350.2(DPP6):c.52-102209C>ALung cancer [RCV000105878]uncertain significance7154344005154344005Humanname
8594814CV125363single nucleotide variantNM_001039350.2(DPP6):c.436-21739T>GLung cancer [RCV000105882]uncertain significance7154616082154616082Humanname
8590663CV125365single nucleotide variantNM_001039350.2(DPP6):c.570+24620C>ALung cancer [RCV000105884]uncertain significance7154694061154694061Humanname
8594816CV125366single nucleotide variantNM_001039350.2(DPP6):c.571-26666C>TLung cancer [RCV000105885]uncertain significance7154701101154701101Humanname
8594817CV125367single nucleotide variantNM_001039350.2(DPP6):c.571-26337G>TLung cancer [RCV000105886]uncertain significance7154701430154701430Humanname
8594819CV125369single nucleotide variantNM_001039350.2(DPP6):c.691+20225A>TLung cancer [RCV000105888]uncertain significance7154748112154748112Humanname
8590665CV125371single nucleotide variantNM_001039350.2(DPP6):c.1474+7975A>TLung cancer [RCV000105890]uncertain significance7154815087154815087Humanname
8590666CV125373single nucleotide variantNM_001039350.2(DPP6):c.1522+1511A>GLung cancer [RCV000105892]uncertain significance7154855338154855338Humanname
8590667CV125374single nucleotide variantNM_001039350.2(DPP6):c.1692-1508C>ALung cancer [RCV000105893]uncertain significance7154874398154874398Humanname
150487660CV1262777single nucleotide variantNM_001039350.3(DPP6):c.51+164472A>Cnot provided [RCV001687175]benign7154052206154052206Humanname
150460357CV1268485single nucleotide variantNM_001039350.3(DPP6):c.51+164609G>Cnot provided [RCV001693482]benign7154052343154052343Humanname
401923772CV2823415single nucleotide variantNM_130797.4(DPP6):c.27T>C (p.Thr9=)not provided [RCV003435350]likely benign7154052847154052847Humanname
405270224CV3186936single nucleotide variantNM_001364497.2(DPP6):c.60+138721G>Anot provided [RCV003887019]uncertain significance7153887729153887729Humanname
8632490CV87698single nucleotide variantNM_001039350.2(DPP6):c.435+20987G>AMalignant melanoma [RCV000067790]not provided7154587903154587903Humanname
8632491CV87699single nucleotide variantNM_001039350.2(DPP6):c.435+20988G>AMalignant melanoma [RCV000067791]not provided7154587904154587904Humanname
8594820CV125372single nucleotide variantNM_001039350.2(DPP6):c.1475-21842T>CLung cancer [RCV000105891]uncertain significance7154831938154831938Humanname
401924461CV2795124single nucleotide variantNM_130797.4(DPP6):c.3G>A (p.Met1Ile)Intellectual disability, autosomal dominant 33 [RCV003388898]uncertain significance7154052823154052823Human1name
401909094CV2823416single nucleotide variantNM_130797.4(DPP6):c.99C>G (p.Pro33=)not provided [RCV003423855]likely benign7154052919154052919Humanname
150480779CV1235067single nucleotide variantNM_130797.4(DPP6):c.114C>T (p.Gly38=)not provided [RCV001649649]|not specified [RCV001700796]benign7154052934154052934Humanname
150516525CV1287402single nucleotide variantNM_130797.4(DPP6):c.141G>T (p.Arg47=)not provided [RCV001723381]likely benign7154052961154052961Humanname
401909095CV2823417single nucleotide variantNM_130797.4(DPP6):c.132C>T (p.Leu44=)not provided [RCV003423856]likely benign7154052952154052952Humanname
401923774CV2823418single nucleotide variantNM_130797.4(DPP6):c.150G>A (p.Ala50=)not provided [RCV003435351]likely benign7154052970154052970Humanname
401909097CV2823419single nucleotide variantNM_130797.4(DPP6):c.225C>T (p.Ser75=)not provided [RCV003423857]likely benign7154053045154053045Humanname
405261722CV3186237single nucleotide variantNM_130797.4(DPP6):c.183C>T (p.Gly61=)not provided [RCV003885313]likely benign7154053003154053003Humanname
126733957CV1020347single nucleotide variantNM_130797.4(DPP6):c.88G>A (p.Gly30Ser)Intellectual disability, autosomal dominant 33 [RCV001334471]uncertain significance7154052908154052908Human1name
126911639CV1037766single nucleotide variantNM_130797.4(DPP6):c.58G>A (p.Ala20Thr)Ventricular fibrillation, paroxysmal familial, 2 [RCV002504574]|not provided [RCV001355584]uncertain significance7154052878154052878Human1name
150335015CV1164307single nucleotide variantNM_130797.4(DPP6):c.657C>T (p.Tyr219=)not provided [RCV001647365]|not specified [RCV001530022]benign7154637850154637850Humanname
150333223CV1164308single nucleotide variantNM_130797.4(DPP6):c.723A>G (p.Lys241=)Ventricular fibrillation, paroxysmal familial, 2 [RCV002476844]|not provided [RCV004713021]|not specified [RCV001528757]benign7154669402154669402Human1name
150464815CV1215336duplicationNM_130797.4(DPP6):c.1667-68_1667-64dupnot provided [RCV001614035]benign7154853709154853710Humanname
150504113CV1240690microsatelliteNM_130797.4(DPP6):c.1261-43_1261-34delnot provided [RCV001657533]benign7154795793154795802Humanname
150505038CV1286087single nucleotide variantNM_130797.4(DPP6):c.945C>T (p.Tyr315=)not provided [RCV001719510]benign7154769478154769478Humanname
150505051CV1286090deletionNM_130797.4(DPP6):c.1261-48_1261-40delnot provided [RCV001719513]benign7154795794154795802Humanname
150438864CV1286958single nucleotide variantNM_130797.4(DPP6):c.813G>A (p.Gln271=)DPP6-related disorder [RCV003913346]|Ventricular fibrillation, paroxysmal familial, 2 [RCV002477900]|not provided [RCV001724873]benign7154727817154727817Human2name , trait , alternate_id
401923781CV2823428single nucleotide variantNM_130797.4(DPP6):c.666C>T (p.Ser222=)not provided [RCV003435356]benign|likely benign7154637859154637859Humanname
401923783CV2823430single nucleotide variantNM_130797.4(DPP6):c.744C>G (p.Gly248=)not provided [RCV003435357]likely benign7154669423154669423Humanname
405259583CV3186332single nucleotide variantNM_130797.4(DPP6):c.804C>T (p.Val268=)not provided [RCV003884091]likely benign7154727808154727808Humanname
405292143CV3192307single nucleotide variantNM_130797.4(DPP6):c.939C>T (p.Leu313=)DPP6-related disorder [RCV003929589]|not provided [RCV003992806]benign|likely benign7154769472154769472Human1name , trait , alternate_id
405696574CV3226746single nucleotide variantNM_130797.4(DPP6):c.924G>A (p.Pro308=)not provided [RCV003993139]likely benign7154769457154769457Humanname
408380231CV3509601single nucleotide variantNM_001364501.2(DPP6):c.15C>T (p.Ala5=)DPP6-related disorder [RCV004756672]benign7153887698153887698Humanname , trait , alternate_id
150513089CV1211813single nucleotide variantNM_130797.4(DPP6):c.2205C>T (p.Cys735=)not provided [RCV001598334]benign7154885704154885704Humanname
150440508CV1220171microsatelliteNM_130797.4(DPP6):c.244-141195CCCCAG[6]not provided [RCV001610154]benign7154305019154305048Humanname
150512596CV1228515microsatelliteNM_130797.4(DPP6):c.244-141195CCCCAG[7]not provided [RCV001637647]benign7154305019154305042Humanname
150497941CV1236443single nucleotide variantNM_130797.4(DPP6):c.2427G>A (p.Arg809=)not provided [RCV001656168]benign7154889506154889506Humanname
150477084CV1271995microsatelliteNM_130797.4(DPP6):c.244-141195CCCCAG[4]not provided [RCV001696280]benign7154305019154305060Humanname
150451954CV1274994single nucleotide variantNM_130797.4(DPP6):c.1095C>T (p.Thr365=)not provided [RCV001703273]likely benign7154772901154772901Humanname
150458618CV1278798microsatelliteNM_130797.4(DPP6):c.244-141195CCCCAG[8]not provided [RCV001709415]benign7154305019154305036Humanname
150495645CV1283010single nucleotide variantNM_130797.4(DPP6):c.2373C>T (p.Ala791=)not provided [RCV001717428]benign7154889340154889340Humanname
150505086CV1286099single nucleotide variantNM_130797.4(DPP6):c.1911G>A (p.Val637=)not provided [RCV001719522]benign7154875933154875933Humanname
150505090CV1286100single nucleotide variantNM_130797.4(DPP6):c.2127T>C (p.Phe709=)not provided [RCV001719523]benign7154880936154880936Humanname
150516502CV1287390single nucleotide variantNM_130797.4(DPP6):c.140G>T (p.Arg47Leu)not provided [RCV001723369]likely benign7154052960154052960Humanname
151353523CV1326674single nucleotide variantNM_130797.4(DPP6):c.127C>G (p.Pro43Ala)not provided [RCV001816489]uncertain significance7154052947154052947Humanname
151353033CV1326675single nucleotide variantNM_130797.4(DPP6):c.1635T>C (p.His545=)not provided [RCV001815968]likely benign7154807081154807081Humanname
153305257CV1687647single nucleotide variantNM_130797.4(DPP6):c.235G>A (p.Glu79Lys)not provided [RCV002263468]likely benign7154053055154053055Humanname
11526001CV247019single nucleotide variantNM_130797.4(DPP6):c.193G>T (p.Gly65Cys)not provided [RCV003430801]|not specified [RCV000239201]uncertain significance7154053013154053013Humanname
11525691CV247020single nucleotide variantNM_130797.4(DPP6):c.194G>T (p.Gly65Val)not provided [RCV003430802]|not specified [RCV000238716]uncertain significance7154053014154053014Humanname
11525833CV247021single nucleotide variantNM_130797.4(DPP6):c.227A>T (p.Asp76Val)not provided [RCV000513626]|not specified [RCV000238936]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance7154053047154053047Humanname
401727206CV2736256single nucleotide variantNM_130797.4(DPP6):c.2193G>A (p.Gln731=)not provided [RCV003312704]benign|likely benign7154885692154885692Humanname
401923787CV2823434single nucleotide variantNM_130797.4(DPP6):c.1221C>T (p.Ile407=)not provided [RCV003435360]likely benign7154794163154794163Humanname
401923788CV2823435single nucleotide variantNM_130797.4(DPP6):c.1446C>T (p.Ser482=)not provided [RCV003435361]likely benign7154803902154803902Humanname
401923790CV2823436single nucleotide variantNM_130797.4(DPP6):c.1515G>A (p.Thr505=)not provided [RCV003435362]likely benign7154804932154804932Humanname
401909105CV2823439single nucleotide variantNM_130797.4(DPP6):c.1941G>A (p.Thr647=)not provided [RCV003423864]likely benign7154875963154875963Humanname
401909107CV2823441single nucleotide variantNM_130797.4(DPP6):c.2532G>A (p.Val844=)not provided [RCV003423865]likely benign7154892414154892414Humanname
401923795CV2823442single nucleotide variantNM_130797.4(DPP6):c.2580G>A (p.Glu860=)not provided [RCV003435366]likely benign7154892462154892462Humanname
401944858CV2840657single nucleotide variantNM_130797.4(DPP6):c.1914T>G (p.Ala638=)not provided [RCV003457529]likely benign7154875936154875936Humanname
405263583CV3185188single nucleotide variantNM_130797.4(DPP6):c.2331C>T (p.Ser777=)not provided [RCV003885752]likely benign7154889298154889298Humanname
405259544CV3186316single nucleotide variantNM_130797.4(DPP6):c.136C>T (p.Pro46Ser)not provided [RCV003884075]uncertain significance7154052956154052956Humanname
405266830CV3186713single nucleotide variantNM_130797.4(DPP6):c.1410C>T (p.Pro470=)not provided [RCV003886794]likely benign7154803866154803866Humanname
405268713CV3199055single nucleotide variantNM_130797.4(DPP6):c.1257G>T (p.Thr419=)DPP6-related disorder [RCV003912160]likely benign7154794199154794199Humanname , trait , alternate_id
405266049CV3201864single nucleotide variantNM_130797.4(DPP6):c.1608C>T (p.Cys536=)DPP6-related disorder [RCV003911354]likely benign7154807054154807054Humanname , trait , alternate_id
405277101CV3214399single nucleotide variantNM_130797.4(DPP6):c.1995C>T (p.Ser665=)DPP6-related disorder [RCV003917343]likely benign7154876017154876017Humanname , trait , alternate_id
405287966CV3214817single nucleotide variantNM_130797.4(DPP6):c.2334G>A (p.Ala778=)DPP6-related disorder [RCV003924688]likely benign7154889301154889301Humanname , trait , alternate_id
405278343CV3216588single nucleotide variantNM_130797.4(DPP6):c.1764C>T (p.Asp588=)DPP6-related disorder [RCV003954496]likely benign7154868044154868044Humanname , trait , alternate_id
405852985CV3393415single nucleotide variantNM_130797.4(DPP6):c.1599T>G (p.Val533=)not provided [RCV004546145]likely benign7154807045154807045Humanname
407425465CV3409521single nucleotide variantNM_130797.4(DPP6):c.2082G>A (p.Thr694=)not provided [RCV004585453]likely benign7154880891154880891Humanname
407453924CV3416420single nucleotide variantNM_130797.4(DPP6):c.160C>G (p.Arg54Gly)not provided [RCV004597678]benign7154052980154052980Humanname
596946572CV3548396single nucleotide variantNM_130797.4(DPP6):c.2121C>T (p.Ala707=)not provided [RCV004810222]likely benign7154880930154880930Humanname
12849161CV364016single nucleotide variantNM_130797.4(DPP6):c.226G>A (p.Asp76Asn)not provided [RCV000425085]|not specified [RCV001727713]benign|likely benign7154053046154053046Humanname
598122596CV3884528single nucleotide variantNM_130797.4(DPP6):c.235G>T (p.Glu79Ter)not specified [RCV005237220]uncertain significance7154053055154053055Humanname
598129572CV3886989single nucleotide variantNM_130797.4(DPP6):c.1776T>C (p.Pro592=)not provided [RCV005245049]likely benign7154868056154868056Humanname
21069686CV796014single nucleotide variantNM_130797.4(DPP6):c.1956C>T (p.Ser652=)not provided [RCV000998971]benign|likely benign7154875978154875978Humanname
38459464CV919094single nucleotide variantNM_130797.4(DPP6):c.109G>T (p.Gly37Cys)Intellectual disability, autosomal dominant 33 [RCV001195855]uncertain significance7154052929154052929Human1name
126740798CV1016869single nucleotide variantNM_001039350.3(DPP6):c.19A>G (p.Ile7Val)Intellectual disability, autosomal dominant 33 [RCV001329530]uncertain significance7153887702153887702Human1name
152981705CV1677009single nucleotide variantNM_130797.4(DPP6):c.421T>C (p.Phe141Leu)not specified [RCV002248077]benign7154475001154475001Humanname
155741385CV1779982single nucleotide variantNM_130797.4(DPP6):c.397G>A (p.Val133Ile)not specified [RCV002302586]uncertain significance7154474977154474977Humanname
11040092CV224352single nucleotide variantNM_130797.4(DPP6):c.674C>T (p.Pro225Leu)Sudden cardiac death [RCV000208337]uncertain significance7154637867154637867Human2name
243058148CV2412314single nucleotide variantNM_130797.4(DPP6):c.668A>G (p.Lys223Arg)Intellectual disability, autosomal dominant 33 [RCV003146856]|not provided [RCV003427699]uncertain significance7154637861154637861Human1name
243058151CV2412315single nucleotide variantNM_130797.4(DPP6):c.975C>G (p.Ile325Met)Intellectual disability, autosomal dominant 33 [RCV003146857]uncertain significance7154769508154769508Human1name
401923784CV2823431single nucleotide variantNM_130797.4(DPP6):c.949G>A (p.Ala317Thr)not provided [RCV003435358]uncertain significance7154769482154769482Humanname
405261760CV3186246single nucleotide variantNM_130797.4(DPP6):c.580A>G (p.Ile194Val)not provided [RCV003885322]uncertain significance7154566869154566869Humanname
405266770CV3186702single nucleotide variantNM_130797.4(DPP6):c.940G>A (p.Ala314Thr)not provided [RCV003886783]uncertain significance7154769473154769473Humanname
407429728CV3414161duplicationNM_130797.4(DPP6):c.2183dup (p.Asn728fs)Intellectual disability, autosomal dominant 33 [RCV004595748]pathogenic|uncertain significance7154885678154885679Human1name
408384752CV3503471single nucleotide variantNM_130797.4(DPP6):c.613T>A (p.Tyr205Asn)DPP6-related disorder [RCV004732079]uncertain significance7154566902154566902Humanname , trait , alternate_id
408383871CV3505958single nucleotide variantNM_130797.4(DPP6):c.415G>A (p.Glu139Lys)DPP6-related disorder [RCV004731352]uncertain significance7154474995154474995Humanname , trait , alternate_id
408366802CV3517048single nucleotide variantNM_130797.4(DPP6):c.800A>T (p.His267Leu)DPP6-related disorder [RCV004757041]uncertain significance7154727804154727804Humanname , trait , alternate_id
597702586CV3718987single nucleotide variantNM_130797.4(DPP6):c.685C>A (p.Pro229Thr)Complex neurodevelopmental disorder [RCV005358192]|Ventricular fibrillation, paroxysmal familial, 2 [RCV005033666]uncertain significance7154669364154669364Human2name
597702599CV3718988single nucleotide variantNM_130797.4(DPP6):c.965G>A (p.Arg322His)Ventricular fibrillation, paroxysmal familial, 2 [RCV005033667]uncertain significance7154769498154769498Human1name
598216922CV3895271single nucleotide variantNM_130797.4(DPP6):c.620T>C (p.Val207Ala)Complex neurodevelopmental disorder [RCV005360168]uncertain significance7154566909154566909Human1name
598243908CV3895272single nucleotide variantNM_130797.4(DPP6):c.799C>T (p.His267Tyr)Complex neurodevelopmental disorder [RCV005365604]uncertain significance7154727803154727803Human1name
21069683CV796011single nucleotide variantNM_130797.4(DPP6):c.764T>C (p.Ile255Thr)not provided [RCV000998968]uncertain significance7154727768154727768Humanname
28895739CV859597single nucleotide variantNM_130797.4(DPP6):c.932C>T (p.Thr311Met)not provided [RCV001092782]uncertain significance7154769465154769465Humanname
40815017CV970852single nucleotide variantNM_130797.4(DPP6):c.914G>A (p.Trp305Ter)Intellectual disability, autosomal dominant 33 [RCV001262400]likely pathogenic|uncertain significance7154769447154769447Human1name
126731587CV1000586single nucleotide variantNM_130797.4(DPP6):c.1480G>A (p.Asp494Asn)not provided [RCV001310616]uncertain significance7154803936154803936Humanname
126911269CV1037767single nucleotide variantNM_130797.4(DPP6):c.1621G>A (p.Ala541Thr)Ventricular fibrillation, paroxysmal familial, 2 [RCV002493819]|not provided [RCV001355174]uncertain significance7154807067154807067Human1name
150453480CV1203809single nucleotide variantNM_001364497.2(DPP6):c.39T>A (p.Cys13Ter)Intellectual disability, autosomal dominant 33 [RCV001591765]uncertain significance7153748987153748987Human1name
150487270CV1225881single nucleotide variantNM_130797.4(DPP6):c.2561T>C (p.Leu854Pro)not provided [RCV001618042]benign7154892443154892443Humanname
151663679CV1334145single nucleotide variantNM_130797.4(DPP6):c.1391C>T (p.Thr464Met)Intellectual disability, autosomal dominant 33 [RCV001839319]uncertain significance7154801446154801446Human1name
152039267CV1669399single nucleotide variantNM_130797.4(DPP6):c.1330C>T (p.Arg444Ter)not provided [RCV002224451]uncertain significance7154801385154801385Humanname
152034697CV1669561single nucleotide variantNM_130797.4(DPP6):c.2471A>G (p.His824Arg)not provided [RCV002223552]uncertain significance7154892353154892353Humanname
153350065CV1694151single nucleotide variantNM_130797.4(DPP6):c.1888G>A (p.Gly630Ser)Intellectual disability, autosomal dominant 33 [RCV002276503]uncertain significance7154875910154875910Human1name
10042792CV187269single nucleotide variantNM_130797.4(DPP6):c.1153A>C (p.Met385Leu)Intellectual disability, autosomal dominant 33 [RCV000169782]pathogenic|no classifications from unflagged records|not provided7154794095154794095Human1name
155966979CV2048974single nucleotide variantNM_130797.4(DPP6):c.1033C>T (p.Pro345Ser)Intellectual disability, autosomal dominant 33 [RCV002776542]uncertain significance7154769566154769566Human1name
10449779CV215358single nucleotide variantNM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)DPP6-related disorder [RCV003927866]|not provided [RCV001528743]|not specified [RCV000202886]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance7154853824154853824Human1name , trait , alternate_id
11040188CV224353single nucleotide variantNM_130797.4(DPP6):c.1039G>A (p.Ala347Thr)Cardiac arrest [RCV000208521]uncertain significance7154772845154772845Human2name
11040323CV224354single nucleotide variantNM_130797.4(DPP6):c.2077C>T (p.Arg693Trp)Primary dilated cardiomyopathy [RCV000208161]uncertain significance7154876099154876099Human1name
329353244CV2477041single nucleotide variantNM_130797.4(DPP6):c.1370G>A (p.Arg457Gln)not provided [RCV003223273]likely benign7154801425154801425Humanname
401751380CV2738978single nucleotide variantNM_130797.4(DPP6):c.1249G>A (p.Val417Ile)Long QT syndrome [RCV003318460]uncertain significance7154794191154794191Human2name
401867688CV2749022single nucleotide variantNM_130797.4(DPP6):c.2252C>T (p.Ala751Val)not specified [RCV003331846]uncertain significance7154887682154887682Humanname
401909104CV2823432single nucleotide variantNM_130797.4(DPP6):c.1015G>T (p.Val339Leu)DPP6-related disorder [RCV003929174]|not provided [RCV003423863]benign7154769548154769548Human1name , trait , alternate_id
401923785CV2823433single nucleotide variantNM_130797.4(DPP6):c.1213G>A (p.Val405Met)not provided [RCV003435359]uncertain significance7154794155154794155Humanname
401923793CV2823438single nucleotide variantNM_130797.4(DPP6):c.1802T>C (p.Ile601Thr)not provided [RCV003435364]likely benign7154868082154868082Humanname
401923794CV2823440single nucleotide variantNM_130797.4(DPP6):c.1964C>T (p.Ala655Val)not provided [RCV003435365]likely benign7154875986154875986Humanname
405269376CV3187335single nucleotide variantNM_130797.4(DPP6):c.1979G>A (p.Cys660Tyr)not provided [RCV003887419]uncertain significance7154876001154876001Humanname
405286788CV3205491single nucleotide variantNM_130797.4(DPP6):c.2333C>T (p.Ala778Val)DPP6-related disorder [RCV003959652]likely benign7154889300154889300Humanname , trait , alternate_id
405279527CV3206957single nucleotide variantNM_130797.4(DPP6):c.2332G>A (p.Ala778Thr)DPP6-related disorder [RCV003919513]likely benign7154889299154889299Humanname , trait , alternate_id
405853760CV3393687single nucleotide variantNM_130797.4(DPP6):c.2114G>A (p.Arg705His)not provided [RCV004546912]uncertain significance7154880923154880923Humanname
407456744CV3415966single nucleotide variantNM_130797.4(DPP6):c.2036G>A (p.Arg679Gln)not provided [RCV004598843]uncertain significance7154876058154876058Humanname
407572734CV3497223single nucleotide variantNM_130797.4(DPP6):c.1916A>T (p.Glu639Val)not provided [RCV004699043]uncertain significance7154875938154875938Humanname
596920520CV3533969single nucleotide variantNM_130797.4(DPP6):c.2302G>A (p.Glu768Lys)not specified [RCV004783187]uncertain significance7154887732154887732Humanname
597702610CV3718989single nucleotide variantNM_130797.4(DPP6):c.1578G>C (p.Gln526His)Ventricular fibrillation, paroxysmal familial, 2 [RCV005033668]uncertain significance7154807024154807024Human1name
598126265CV3881842single nucleotide variantNM_130797.4(DPP6):c.1741C>T (p.His581Tyr)not provided [RCV005233394]uncertain significance7154868021154868021Humanname
598243900CV3895270single nucleotide variantNM_130797.4(DPP6):c.2431A>G (p.Lys811Glu)Complex neurodevelopmental disorder [RCV005365603]uncertain significance7154889510154889510Human1name
13612938CV480697single nucleotide variantNM_130797.4(DPP6):c.1091C>G (p.Pro364Arg)Wolff-Parkinson-White pattern [RCV000656170]uncertain significance7154772897154772897Human1name
13612967CV480698single nucleotide variantNM_130797.4(DPP6):c.1154T>C (p.Met385Thr)Wolff-Parkinson-White pattern [RCV000656188]uncertain significance7154794096154794096Human1name
13592734CV513578single nucleotide variantNM_130797.4(DPP6):c.1388T>C (p.Ile463Thr)Intellectual disability, autosomal dominant 33 [RCV000626220]uncertain significance7154801443154801443Human1name
21071695CV790712single nucleotide variantNM_130797.4(DPP6):c.2304G>C (p.Glu768Asp)Intellectual disability, autosomal dominant 33 [RCV000988023]uncertain significance7154887734154887734Human1name
21069679CV796007single nucleotide variantNM_001039350.3(DPP6):c.51G>T (p.Met17Ile)not provided [RCV000998964]uncertain significance7153887734153887734Humanname
21069684CV796012single nucleotide variantNM_130797.4(DPP6):c.1072G>A (p.Val358Ile)not provided [RCV000998969]uncertain significance7154772878154772878Humanname
40903220CV975793single nucleotide variantNM_130797.4(DPP6):c.1820C>T (p.Pro607Leu)not specified [RCV001269102]uncertain significance7154872630154872630Humanname
41408079CV980699single nucleotide variantNM_130797.4(DPP6):c.1565A>G (p.Asn522Ser)Intellectual disability, autosomal dominant 33 [RCV002275336]uncertain significance7154807011154807011Human1name
150520896CV1289978microsatelliteNM_130797.4(DPP6):c.167GCG[6] (p.Gly62del)not provided [RCV001730363]likely benign7154052987154052989Humanname
152039049CV1669366deletionNM_130797.4(DPP6):c.157_184del (p.Pro53fs)See cases [RCV003156147]|not provided [RCV002224418]likely pathogenic|uncertain significance7154052967154052994Humanname
21069680CV796008microsatelliteNM_130797.4(DPP6):c.167GCG[8] (p.Gly62dup)Ventricular fibrillation, paroxysmal familial, 2 [RCV005359735]|not provided [RCV000998965]|not specified [RCV001725207]benign|likely benign|uncertain significance7154052986154052987Humanname
12849232CV364083microsatelliteNM_130797.4(DPP6):c.382AAG[2] (p.Lys130del)not provided [RCV000426462]uncertain significance7154474962154474964Humanname
150493263CV1267111deletionNM_001039350.3(DPP6):c.51+164380_51+164383delnot provided [RCV001688138]benign7154052114154052117Humanname
407453937CV3416423microsatelliteNM_130797.4(DPP6):c.167GCG[5] (p.Gly61_Gly62del)not provided [RCV004597681]likely benign7154052987154052992Humanname
405871633CV3397988microsatelliteNM_130797.4(DPP6):c.167GCG[9] (p.Gly62_Ala63insGlyGly)not provided [RCV004574988]likely benign7154052986154052987Humanname