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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


261 records found for search term Notch4
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150501845CV1224306single nucleotide variantNM_004557.4(NOTCH4):c.74-8A>Tnot provided [RCV001620947]benign63222309432223094Humanname
150497680CV1271382single nucleotide variantNM_004557.4(NOTCH4):c.-117C>Tnot provided [RCV001689072]benign63222404532224045Human3name
150515028CV1217355single nucleotide variantNM_004557.4(NOTCH4):c.73+13G>Anot provided [RCV001608259]benign63222384332223843Humanname
150457904CV1237140single nucleotide variantNM_004557.4(NOTCH4):c.73+89G>Anot provided [RCV001648819]benign63222376732223767Humanname
150469648CV1247856single nucleotide variantNM_004557.4(NOTCH4):c.73+52A>Tnot provided [RCV001670892]benign63222380432223804Human5name
150469648CV1247856single nucleotide variantNM_004557.4(NOTCH4):c.73+52A>Tnot provided [RCV001670892]benign63222380432223805Human5name
150441921CV1264351single nucleotide variantNM_004557.4(NOTCH4):c.73+26G>Anot provided [RCV001679334]benign63222383032223830Humanname
150331821CV1169176single nucleotide variantNM_004557.4(NOTCH4):c.73+176C>Tnot provided [RCV001536640]benign63222368032223680Human3name
150331821CV1169176single nucleotide variantNM_004557.4(NOTCH4):c.73+176C>Tnot provided [RCV001536640]benign63222368032223681Human3name
150495817CV1225169single nucleotide variantNM_004557.4(NOTCH4):c.74-178C>Tnot provided [RCV001619647]benign63222326432223264Humanname
150469319CV1249075single nucleotide variantNM_004557.4(NOTCH4):c.451+71A>Gnot provided [RCV001670837]benign63222244032222440Humanname
150509836CV1284671single nucleotide variantNM_004557.4(NOTCH4):c.156-37A>Gnot provided [RCV001720779]benign63222284332222843Humanname
15149082CV730419single nucleotide variantNM_004557.4(NOTCH4):c.1511-7T>Anot provided [RCV000879089]benign63221811532218115Humanname
15179420CV744265single nucleotide variantNM_004557.4(NOTCH4):c.5299-3C>Gnot provided [RCV000907106]likely benign63219615332196153Humanname
15148442CV759459single nucleotide variantNM_004557.4(NOTCH4):c.2527-8C>Tnot provided [RCV000923097]likely benign63221263532212635Humanname
15168631CV777618single nucleotide variantNM_004557.4(NOTCH4):c.2865+9G>Tnot provided [RCV000949297]benign63221074332210743Humanname
150330866CV1169175single nucleotide variantNM_004557.4(NOTCH4):c.4757-73T>Cnot provided [RCV001536181]benign63219766732197667Human2name
150330866CV1169175single nucleotide variantNM_004557.4(NOTCH4):c.4757-73T>Cnot provided [RCV001536181]benign63219766732197668Human2name
150507275CV1211135single nucleotide variantNM_004557.4(NOTCH4):c.1861+17C>Tnot provided [RCV001596253]benign63221692832216928Humanname
150497711CV1219451single nucleotide variantNM_004557.4(NOTCH4):c.2680+10G>Anot provided [RCV001620120]benign63221246432212464Humanname
150502074CV1224384single nucleotide variantNM_004557.4(NOTCH4):c.4617+42G>Cnot provided [RCV001621025]benign63219860732198607Humanname
150513508CV1229032single nucleotide variantNM_004557.4(NOTCH4):c.1160-38G>Anot provided [RCV001637874]benign63222032232220323Human6name
150513508CV1229032single nucleotide variantNM_004557.4(NOTCH4):c.1160-38G>Anot provided [RCV001637874]benign63222032232220322Human6name
150497268CV1236994deletionNM_004557.4(NOTCH4):c.4756+37delnot provided [RCV001656058]benign63219838432198384Humanname
150486914CV1237247single nucleotide variantNM_004557.4(NOTCH4):c.2527-27T>Anot provided [RCV001654095]benign63221265432212654Humanname
150511197CV1242637single nucleotide variantNM_004557.4(NOTCH4):c.1316-42T>Cnot provided [RCV001660989]benign63221982832219828Humanname
150430631CV1243403single nucleotide variantNM_004557.4(NOTCH4):c.1862-13C>Tnot provided [RCV001663021]benign63221539832215398Humanname
150508819CV1244926single nucleotide variantNM_004557.4(NOTCH4):c.5053-20C>Gnot provided [RCV001659177]benign63219709232197092Human1name
150508819CV1244926single nucleotide variantNM_004557.4(NOTCH4):c.5053-20C>Gnot provided [RCV001659177]benign63219709232197093Human1name
150483592CV1248257deletionNM_004557.4(NOTCH4):c.5200+36delnot provided [RCV001673472]benign63219688932196889Humanname
150460496CV1253116single nucleotide variantNM_004557.4(NOTCH4):c.3232-57G>Anot provided [RCV001669445]benign63220265632202656Humanname
150499102CV1254304single nucleotide variantNM_004557.4(NOTCH4):c.1316-74C>Anot provided [RCV001676478]benign63221986032219860Humanname
150467491CV1269239single nucleotide variantNM_004557.4(NOTCH4):c.4316-87C>Anot provided [RCV001694647]benign63219923232199232Humanname
150471816CV1270151single nucleotide variantNM_004557.4(NOTCH4):c.4618-44G>Cnot provided [RCV001695439]benign63219860332198603Humanname
150454098CV1276942single nucleotide variantNM_004557.4(NOTCH4):c.3232-31G>Cnot provided [RCV001708733]benign63220263032202630Humanname
150465264CV1277210single nucleotide variantNM_004557.4(NOTCH4):c.3119-24A>Gnot provided [RCV001710504]benign63220390632203906Human4name
150465561CV1277259single nucleotide variantNM_004557.4(NOTCH4):c.5053-25G>Tnot provided [RCV001710553]benign63219709732197097Humanname
150509839CV1284672deletionNM_004557.4(NOTCH4):c.3232-89delnot provided [RCV001720780]benign63220268832202688Humanname
150509857CV1284678single nucleotide variantNM_004557.4(NOTCH4):c.2681-60A>Gnot provided [RCV001720786]benign63221099632210996Humanname
150510448CV1211690single nucleotide variantNM_004557.4(NOTCH4):c.4757-212C>Tnot provided [RCV001597584]benign63219780632197806Humanname
150502587CV1212270single nucleotide variantNM_004557.4(NOTCH4):c.2681-189A>Gnot provided [RCV001595143]benign63221112532211125Humanname
150480287CV1221940single nucleotide variantNM_004557.4(NOTCH4):c.2022-229A>Gnot provided [RCV001616736]benign63221448432214484Humanname
150460717CV1234679single nucleotide variantNM_004557.4(NOTCH4):c.1510+167A>Gnot provided [RCV001649261]benign63221942532219425Humanname
150458122CV1237171single nucleotide variantNM_004557.4(NOTCH4):c.2021+128A>Gnot provided [RCV001648850]benign63221509832215098Humanname
150438171CV1237985single nucleotide variantNM_004557.4(NOTCH4):c.1861+148C>Tnot provided [RCV001644483]benign63221679732216797Humanname
150478680CV1240538single nucleotide variantNM_004557.4(NOTCH4):c.2680+105T>Cnot provided [RCV001652413]benign63221236932212369Humanname
150470921CV1248107single nucleotide variantNM_004557.4(NOTCH4):c.3231+179A>Gnot provided [RCV001671143]benign63220359132203591Humanname
150450039CV1254060single nucleotide variantNM_004557.4(NOTCH4):c.1316-158T>Anot provided [RCV001667697]benign63221994432219944Humanname
150450177CV1260924single nucleotide variantNM_004557.4(NOTCH4):c.2321-153C>Tnot provided [RCV001680593]benign63221340532213405Humanname
150474365CV1263350single nucleotide variantNM_004557.4(NOTCH4):c.1624+167C>Tnot provided [RCV001684872]benign63221782832217828Humanname
150460282CV1268473single nucleotide variantNM_004557.4(NOTCH4):c.1316-159G>Anot provided [RCV001693470]benign63221994532219945Humanname
150446182CV1278276single nucleotide variantNM_004557.4(NOTCH4):c.1625-203A>Cnot provided [RCV001707419]benign63221746932217469Humanname
150509848CV1284675single nucleotide variantNM_004557.4(NOTCH4):c.1511-165C>Tnot provided [RCV001720783]benign63221827332218273Humanname
150477533CV1218639single nucleotide variantNM_004557.4(NOTCH4):c.255C>T (p.Pro85=)not provided [RCV001616266]benign63222270732222707Humanname
150457051CV1260090duplicationNM_004557.4(NOTCH4):c.1315+67_1315+68dupnot provided [RCV001681570]benign63222005932220060Humanname
150444527CV1266543single nucleotide variantNM_004557.4(NOTCH4):c.852G>A (p.Gln284=)not provided [RCV001690980]benign63222082632220826Humanname
150447263CV1270287single nucleotide variantNM_004557.4(NOTCH4):c.522A>G (p.Thr174=)not provided [RCV001691422]benign63222125532221255Humanname
150450796CV1272425deletionNM_004557.4(NOTCH4):c.1511-39_1511-38delnot provided [RCV001691906]benign63221814632218147Humanname
150475877CV1279147single nucleotide variantNM_004557.4(NOTCH4):c.813A>G (p.Pro271=)not provided [RCV001713904]benign63222086532220865Humanname
150495673CV1283025single nucleotide variantNM_004557.4(NOTCH4):c.333T>C (p.Gly111=)not provided [RCV001717435]benign63222262932222629Humanname
597675132CV3559571single nucleotide variantNM_004557.4(NOTCH4):c.552G>A (p.Pro184=)not specified [RCV004830144]likely benign63222122532221225Humanname
15149086CV721967single nucleotide variantNM_004557.4(NOTCH4):c.645G>A (p.Leu215=)not provided [RCV000879090]benign63222113232221132Humanname
15151865CV721969single nucleotide variantNM_004557.4(NOTCH4):c.570C>T (p.Ala190=)not provided [RCV000879688]benign63222120732221207Humanname
15149097CV721970single nucleotide variantNM_004557.4(NOTCH4):c.558C>T (p.Phe186=)not provided [RCV000879092]benign63222121932221219Humanname
15117343CV765631single nucleotide variantNM_004557.4(NOTCH4):c.801T>A (p.Gly267=)not provided [RCV000939817]likely benign63222087732220877Humanname
8626175CV81319single nucleotide variantNM_004557.3(NOTCH4):c.555C>T (p.Gly185=)Malignant melanoma [RCV000061397]not provided63222122232221222Humanname
127330865CV1137487single nucleotide variantNM_004557.4(NOTCH4):c.190T>A (p.Phe64Ile)not provided [RCV001488420]likely benign63222277232222772Humanname
150514347CV1211961single nucleotide variantNM_004557.4(NOTCH4):c.1044C>G (p.Gly348=)not provided [RCV001599030]benign63222052032220520Human7name
150514347CV1211961single nucleotide variantNM_004557.4(NOTCH4):c.1044C>G (p.Gly348=)not provided [RCV001599030]benign63222052032220521Human7name
150440923CV1266993single nucleotide variantNM_004557.4(NOTCH4):c.2967A>C (p.Gly989=)not provided [RCV001690429]benign63220428832204288Humanname
155934186CV2229102single nucleotide variantNM_004557.4(NOTCH4):c.256G>C (p.Ala86Pro)not specified [RCV004098871]uncertain significance63222270632222706Humanname
156108802CV2313824single nucleotide variantNM_004557.4(NOTCH4):c.244G>A (p.Ala82Thr)not specified [RCV004164149]uncertain significance63222271832222718Humanname
155931166CV2362480single nucleotide variantNM_004557.4(NOTCH4):c.211G>A (p.Ala71Thr)not specified [RCV004213101]uncertain significance63222275132222751Humanname
329400275CV2437550single nucleotide variantNM_004557.4(NOTCH4):c.182C>T (p.Thr61Met)not specified [RCV004258833]uncertain significance63222278032222780Humanname
401915615CV2822921single nucleotide variantNM_004557.4(NOTCH4):c.1488C>T (p.Thr496=)not provided [RCV003428815]likely benign63221961432219614Humanname
405678844CV3351956single nucleotide variantNM_004557.4(NOTCH4):c.131T>C (p.Leu44Pro)not specified [RCV004488257]uncertain significance63222302932223029Humanname
407453899CV3416414single nucleotide variantNM_004557.4(NOTCH4):c.2400G>A (p.Pro800=)not provided [RCV004597672]likely benign63221317332213173Humanname
597674039CV3559553single nucleotide variantNM_004557.4(NOTCH4):c.134C>T (p.Ser45Phe)not specified [RCV004830126]uncertain significance63222302632223026Humanname
598207728CV4000859single nucleotide variantNM_004557.4(NOTCH4):c.295C>T (p.Pro99Ser)not specified [RCV005377169]uncertain significance63222266732222667Humanname
617153313CV4021198single nucleotide variantNM_004557.4(NOTCH4):c.1044C>T (p.Gly348=)not provided [RCV005428951]likely benign63222052032220520Humanname
15184411CV710429single nucleotide variantNM_004557.4(NOTCH4):c.1578G>A (p.Ala526=)not provided [RCV000975106]benign63221804132218041Humanname
15198439CV721964single nucleotide variantNM_004557.4(NOTCH4):c.2388C>A (p.Gly796=)not provided [RCV000890357]likely benign63221318532213185Humanname
15149072CV721965single nucleotide variantNM_004557.4(NOTCH4):c.2052G>A (p.Thr684=)not provided [RCV000879087]benign63221422532214225Humanname
15149077CV721966single nucleotide variantNM_004557.4(NOTCH4):c.1866G>A (p.Gln622=)not provided [RCV000879088]benign63221538132215381Humanname
150501571CV1224219single nucleotide variantNM_004557.4(NOTCH4):c.731C>T (p.Ser244Leu)not provided [RCV001620860]benign63222104632221046Human2name
150502042CV1224373single nucleotide variantNM_004557.4(NOTCH4):c.5952C>T (p.Asp1984=)not provided [RCV001621014]benign63219549732195497Humanname
150450432CV1232680single nucleotide variantNM_004557.4(NOTCH4):c.5685T>G (p.Ser1895=)not provided [RCV001647755]benign63219576432195764Humanname
150509221CV1247253single nucleotide variantNM_004557.4(NOTCH4):c.4152C>A (p.Val1384=)not provided [RCV001659280]benign63220099432200994Human7name
150440959CV1266999single nucleotide variantNM_004557.4(NOTCH4):c.5562G>A (p.Gly1854=)not provided [RCV001690435]benign63219588732195887Humanname
150454868CV1277082single nucleotide variantNM_004557.4(NOTCH4):c.815A>G (p.Asp272Gly)not provided [RCV001708874]benign63222086332220863Humanname
150491688CV1280544single nucleotide variantNM_004557.4(NOTCH4):c.5427A>G (p.Gln1809=)not provided [RCV001716682]benign63219602232196022Humanname
150509851CV1284676single nucleotide variantNM_004557.4(NOTCH4):c.349A>C (p.Lys117Gln)not provided [RCV001720784]benign63222261332222613Humanname
150439036CV1286986single nucleotide variantNM_004557.4(NOTCH4):c.958A>G (p.Thr320Ala)not provided [RCV001724901]benign63222060632220606Humanname
156113818CV2263886single nucleotide variantNM_004557.4(NOTCH4):c.773C>G (p.Thr258Ser)not specified [RCV004137937]uncertain significance63222100432221004Humanname
156053429CV2269497single nucleotide variantNM_004557.4(NOTCH4):c.551C>T (p.Pro184Leu)not specified [RCV004124609]uncertain significance63222122632221226Humanname
156048591CV2271736single nucleotide variantNM_004557.4(NOTCH4):c.640A>G (p.Thr214Ala)not specified [RCV004130582]uncertain significance63222113732221137Humanname
156196883CV2293507single nucleotide variantNM_004557.4(NOTCH4):c.431C>T (p.Ser144Phe)not specified [RCV004153043]uncertain significance63222253132222531Humanname
156257747CV2368987single nucleotide variantNM_004557.4(NOTCH4):c.413C>T (p.Ser138Leu)not specified [RCV004207929]uncertain significance63222254932222549Humanname
156083223CV2381864single nucleotide variantNM_004557.4(NOTCH4):c.589G>A (p.Glu197Lys)not specified [RCV004225809]uncertain significance63222118832221188Humanname
401729564CV2683723single nucleotide variantNM_004557.4(NOTCH4):c.566A>G (p.His189Arg)not specified [RCV004284465]uncertain significance63222121132221211Humanname
401860846CV2758659single nucleotide variantNM_004557.4(NOTCH4):c.937G>A (p.Glu313Lys)not specified [RCV004337728]uncertain significance63222062732220627Humanname
401867682CV2780776single nucleotide variantNM_004557.4(NOTCH4):c.523T>C (p.Tyr175His)not specified [RCV004352099]uncertain significance63222125432221254Humanname
401920558CV2822920single nucleotide variantNM_004557.4(NOTCH4):c.3927C>T (p.Asp1309=)not provided [RCV003431786]likely benign63220132932201329Humanname
405264167CV3185062single nucleotide variantNM_004557.4(NOTCH4):c.4101G>A (p.Thr1367=)not provided [RCV003885626]benign63220115532201155Humanname
405678937CV3351975single nucleotide variantNM_004557.4(NOTCH4):c.719C>G (p.Pro240Arg)not specified [RCV004488276]uncertain significance63222105832221058Humanname
405678943CV3351976single nucleotide variantNM_004557.4(NOTCH4):c.769T>G (p.Ser257Ala)not specified [RCV004488277]uncertain significance63222100832221008Humanname
405852876CV3393304single nucleotide variantNM_004557.4(NOTCH4):c.299G>A (p.Ser100Asn)not provided [RCV004546034]benign63222266332222663Humanname
407515981CV3469305single nucleotide variantNM_004557.4(NOTCH4):c.622G>A (p.Gly208Ser)not specified [RCV004650116]uncertain significance63222115532221155Humanname
407498341CV3469307single nucleotide variantNM_004557.4(NOTCH4):c.967C>T (p.Pro323Ser)not specified [RCV004643987]uncertain significance63222059732220597Humanname
597674059CV3559555single nucleotide variantNM_004557.4(NOTCH4):c.314G>A (p.Cys105Tyr)not specified [RCV004830128]uncertain significance63222264832222648Humanname
598240402CV4000848single nucleotide variantNM_004557.4(NOTCH4):c.905G>A (p.Cys302Tyr)not specified [RCV005383127]uncertain significance63222077332220773Humanname
598207690CV4000851single nucleotide variantNM_004557.4(NOTCH4):c.482C>T (p.Ser161Leu)not specified [RCV005377163]uncertain significance63222129532221295Humanname
15166010CV699537single nucleotide variantNM_004557.4(NOTCH4):c.4828T>C (p.Leu1610=)not provided [RCV000948731]benign63219752332197523Humanname
15149090CV721968single nucleotide variantNM_004557.4(NOTCH4):c.611C>T (p.Pro204Leu)not provided [RCV000879091]benign63222116632221166Humanname
15181558CV735601single nucleotide variantNM_004557.4(NOTCH4):c.4407G>A (p.Gln1469=)not provided [RCV000907607]benign|likely benign63219905432199054Humanname
15194676CV750021single nucleotide variantNM_004557.4(NOTCH4):c.5103G>A (p.Gly1701=)not provided [RCV000911192]benign63219702232197022Humanname
15166836CV750022single nucleotide variantNM_004557.4(NOTCH4):c.3957G>A (p.Leu1319=)not provided [RCV000926959]likely benign63220129932201299Humanname
150502474CV1212242single nucleotide variantNM_004557.4(NOTCH4):c.1600G>A (p.Gly534Ser)not provided [RCV001595115]benign63221801932218019Humanname
150483516CV1263003single nucleotide variantNM_004557.4(NOTCH4):c.2824G>A (p.Gly942Arg)not provided [RCV001686403]benign63221079332210793Humanname
10449776CV215339microsatelliteNM_004557.4(NOTCH4):c.18GCT[9] (p.Leu16del)not provided [RCV001711609]|not specified [RCV000202881]benign63222388232223884Humanname
156075194CV2198076single nucleotide variantNM_004557.4(NOTCH4):c.1867C>G (p.Leu623Val)not specified [RCV004079678]uncertain significance63221538032215380Humanname
156380680CV2208347single nucleotide variantNM_004557.4(NOTCH4):c.2689G>A (p.Val897Ile)not specified [RCV004088780]uncertain significance63221092832210928Humanname
156389954CV2222881single nucleotide variantNM_004557.4(NOTCH4):c.1451G>A (p.Cys484Tyr)not specified [RCV004101703]uncertain significance63221965132219651Humanname
155925831CV2230512single nucleotide variantNM_004557.4(NOTCH4):c.2727C>G (p.Asp909Glu)not specified [RCV004097487]uncertain significance63221089032210890Humanname
11040254CV223623single nucleotide variantNM_004557.4(NOTCH4):c.2443T>G (p.Cys815Gly)Anophthalmia-microphthalmia syndrome [RCV000207397]|not provided [RCV000886825]benign|likely benign63221290732212907Human2name
11040254CV223623single nucleotide variantNM_004557.4(NOTCH4):c.2443T>G (p.Cys815Gly)Anophthalmia-microphthalmia syndrome [RCV000207397]|not provided [RCV000886825]benign|likely benign63221290732212908Human2name
156096558CV2253127single nucleotide variantNM_004557.4(NOTCH4):c.1412G>A (p.Arg471His)not specified [RCV004120907]uncertain significance63221969032219690Humanname
156218983CV2254006single nucleotide variantNM_004557.4(NOTCH4):c.2363C>T (p.Thr788Ile)not specified [RCV004129462]uncertain significance63221321032213210Humanname
155969177CV2262082single nucleotide variantNM_004557.4(NOTCH4):c.2218A>T (p.Asn740Tyr)not specified [RCV004126550]uncertain significance63221379032213790Humanname
156259633CV2322246single nucleotide variantNM_004557.4(NOTCH4):c.1100G>A (p.Gly367Glu)not specified [RCV004176017]uncertain significance63222046432220464Humanname
156354078CV2324204single nucleotide variantNM_004557.4(NOTCH4):c.1022G>A (p.Cys341Tyr)not specified [RCV004176945]uncertain significance63222054232220542Humanname
156288943CV2327457single nucleotide variantNM_004557.4(NOTCH4):c.1538A>G (p.Glu513Gly)not specified [RCV004174871]uncertain significance63221808132218081Humanname
156053172CV2333274single nucleotide variantNM_004557.4(NOTCH4):c.1097C>T (p.Pro366Leu)not specified [RCV004197023]uncertain significance63222046732220467Humanname
156168917CV2345489single nucleotide variantNM_004557.4(NOTCH4):c.1024G>A (p.Val342Met)not specified [RCV004198255]uncertain significance63222054032220540Humanname
156252465CV2369068single nucleotide variantNM_004557.4(NOTCH4):c.2419C>T (p.Arg807Cys)not specified [RCV004207995]uncertain significance63221315432213154Humanname
155998661CV2373322single nucleotide variantNM_004557.4(NOTCH4):c.1267G>A (p.Gly423Ser)not specified [RCV004220032]uncertain significance63222017732220177Humanname
329401589CV2457182single nucleotide variantNM_004557.4(NOTCH4):c.1548G>T (p.Glu516Asp)not specified [RCV004265266]uncertain significance63221807132218071Humanname
329357073CV2457528single nucleotide variantNM_004557.4(NOTCH4):c.2836A>G (p.Met946Val)not specified [RCV004267337]likely benign63221078132210781Humanname
329396530CV2462717single nucleotide variantNM_004557.4(NOTCH4):c.2828C>T (p.Ala943Val)not specified [RCV004278648]uncertain significance63221078932210789Humanname
329352849CV2470527single nucleotide variantNM_004557.4(NOTCH4):c.1684A>G (p.Asn562Asp)not specified [RCV004273540]uncertain significance63221720732217207Humanname
401767935CV2678107single nucleotide variantNM_004557.4(NOTCH4):c.1247C>T (p.Thr416Ile)not specified [RCV004296621]uncertain significance63222019732220197Humanname
401732292CV2698273single nucleotide variantNM_004557.4(NOTCH4):c.1907C>T (p.Pro636Leu)not specified [RCV004304824]uncertain significance63221534032215340Humanname
401738022CV2700904single nucleotide variantNM_004557.4(NOTCH4):c.1954C>T (p.Pro652Ser)not specified [RCV004307170]uncertain significance63221529332215293Humanname
401717847CV2703452single nucleotide variantNM_004557.4(NOTCH4):c.1120G>A (p.Val374Met)not specified [RCV004317643]uncertain significance63222044432220444Humanname
401717850CV2703453single nucleotide variantNM_004557.4(NOTCH4):c.2677C>A (p.Gln893Lys)not specified [RCV004317644]uncertain significance63221247732212477Humanname
401739092CV2708314single nucleotide variantNM_004557.4(NOTCH4):c.2969T>A (p.Phe990Tyr)not specified [RCV004311648]uncertain significance63220428632204286Humanname
401742972CV2715364single nucleotide variantNM_004557.4(NOTCH4):c.2758C>G (p.Pro920Ala)not specified [RCV004324693]uncertain significance63221085932210859Humanname
401766493CV2725579single nucleotide variantNM_004557.4(NOTCH4):c.2342C>T (p.Thr781Ile)not specified [RCV004321967]uncertain significance63221323132213231Humanname
401880523CV2780217single nucleotide variantNM_004557.4(NOTCH4):c.1244C>T (p.Ser415Phe)not specified [RCV004355859]uncertain significance63222020032220200Humanname
401882004CV2784927single nucleotide variantNM_004557.4(NOTCH4):c.1387T>C (p.Cys463Arg)not specified [RCV004354666]uncertain significance63221971532219715Humanname
405678833CV3351953single nucleotide variantNM_004557.4(NOTCH4):c.1045G>T (p.Gly349Cys)not specified [RCV004488254]uncertain significance63222051932220519Humanname
405678838CV3351954single nucleotide variantNM_004557.4(NOTCH4):c.1061A>T (p.Glu354Val)not specified [RCV004488255]uncertain significance63222050332220503Humanname
405678841CV3351955single nucleotide variantNM_004557.4(NOTCH4):c.1208G>C (p.Gly403Ala)not specified [RCV004488256]uncertain significance63222023632220236Humanname
405678850CV3351957single nucleotide variantNM_004557.4(NOTCH4):c.1905G>C (p.Gln635His)not specified [RCV004488258]uncertain significance63221534232215342Humanname
405678855CV3351958single nucleotide variantNM_004557.4(NOTCH4):c.1911G>T (p.Lys637Asn)not specified [RCV004488259]uncertain significance63221533632215336Humanname
405678860CV3351959single nucleotide variantNM_004557.4(NOTCH4):c.2713G>A (p.Gly905Ser)not specified [RCV004488260]uncertain significance63221090432210904Humanname
405678864CV3351960single nucleotide variantNM_004557.4(NOTCH4):c.2791G>A (p.Val931Met)not specified [RCV004488261]uncertain significance63221082632210826Humanname
405678870CV3351961single nucleotide variantNM_004557.4(NOTCH4):c.2840C>G (p.Ala947Gly)not specified [RCV004488262]uncertain significance63221077732210777Humanname
407498323CV3469298single nucleotide variantNM_004557.4(NOTCH4):c.1657G>A (p.Asp553Asn)not specified [RCV004643982]likely benign63221723432217234Humanname
407515984CV3469306single nucleotide variantNM_004557.4(NOTCH4):c.2129C>T (p.Pro710Leu)not specified [RCV004650117]uncertain significance63221414832214148Humanname
597674011CV3559550single nucleotide variantNM_004557.4(NOTCH4):c.1274C>T (p.Ser425Leu)not specified [RCV004830123]uncertain significance63222017032220170Humanname
597674022CV3559551single nucleotide variantNM_004557.4(NOTCH4):c.2485C>T (p.Arg829Cys)not specified [RCV004830124]uncertain significance63221286532212865Humanname
597675295CV3559557single nucleotide variantNM_004557.4(NOTCH4):c.1976C>T (p.Ala659Val)not specified [RCV004830130]uncertain significance63221527132215271Humanname
597675226CV3559563single nucleotide variantNM_004557.4(NOTCH4):c.1594C>T (p.Leu532Phe)not specified [RCV004830136]uncertain significance63221802532218025Humanname
597675181CV3559567single nucleotide variantNM_004557.4(NOTCH4):c.2665G>A (p.Ala889Thr)not specified [RCV004830140]uncertain significance63221248932212489Humanname
597675158CV3559569single nucleotide variantNM_004557.4(NOTCH4):c.2240G>T (p.Ser747Ile)not specified [RCV004830142]uncertain significance63221376832213768Humanname
598207684CV4000850single nucleotide variantNM_004557.4(NOTCH4):c.2008G>A (p.Gly670Arg)not specified [RCV005377162]uncertain significance63221523932215239Humanname
598207696CV4000852single nucleotide variantNM_004557.4(NOTCH4):c.2147C>T (p.Thr716Ile)not specified [RCV005377164]uncertain significance63221413032214130Humanname
598240408CV4000853single nucleotide variantNM_004557.4(NOTCH4):c.1911G>C (p.Lys637Asn)not specified [RCV005383128]uncertain significance63221533632215336Humanname
598207710CV4000856single nucleotide variantNM_004557.4(NOTCH4):c.2840C>T (p.Ala947Val)not specified [RCV005377166]uncertain significance63221077732210777Humanname
598207722CV4000858single nucleotide variantNM_004557.4(NOTCH4):c.2775C>G (p.Ser925Arg)not specified [RCV005377168]uncertain significance63221084232210842Humanname
598207733CV4000861single nucleotide variantNM_004557.4(NOTCH4):c.1534G>A (p.Val512Met)not specified [RCV005377170]uncertain significance63221808532218085Humanname
598207744CV4000864single nucleotide variantNM_004557.4(NOTCH4):c.2549A>G (p.Gln850Arg)not specified [RCV005377172]uncertain significance63221260532212605Humanname
598207749CV4000867single nucleotide variantNM_004557.4(NOTCH4):c.1094C>G (p.Ala365Gly)not specified [RCV005377173]uncertain significance63222047032220470Humanname
598207753CV4000869single nucleotide variantNM_004557.4(NOTCH4):c.2530C>G (p.Leu844Val)not specified [RCV005377174]uncertain significance63221262432212624Humanname
15174145CV679071single nucleotide variantNM_004557.4(NOTCH4):c.1118G>A (p.Arg373Gln)Aganglionic megacolon [RCV000984699]uncertain significance63222044632220446Human2name
15181563CV735602single nucleotide variantNM_004557.4(NOTCH4):c.1798G>C (p.Val600Leu)not provided [RCV000907608]likely benign63221700832217008Humanname
127305968CV1116548single nucleotide variantNM_004557.4(NOTCH4):c.3581C>T (p.Pro1194Leu)not provided [RCV001462634]|not specified [RCV004038614]likely benign|uncertain significance63220225032202250Humanname
150439008CV1247661microsatelliteNM_004557.4(NOTCH4):c.18GCT[11] (p.Leu16dup)not provided [RCV001666028]benign63222388132223882Humanname
156132114CV2192836single nucleotide variantNM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met)Cerebral arteriovenous malformation [RCV002640755]uncertain significance63219749632197496Human2name
156254091CV2193199single nucleotide variantNM_004557.4(NOTCH4):c.4748G>A (p.Arg1583His)not specified [RCV004071189]uncertain significance63219842932198429Humanname
156252386CV2196724single nucleotide variantNM_004557.4(NOTCH4):c.5920C>T (p.Pro1974Ser)not specified [RCV004069408]uncertain significance63219552932195529Humanname
156267556CV2198829single nucleotide variantNM_004557.4(NOTCH4):c.3320A>G (p.Lys1107Arg)not specified [RCV004077869]uncertain significance63220251132202511Humanname
156290747CV2226223single nucleotide variantNM_004557.4(NOTCH4):c.5738G>C (p.Gly1913Ala)not specified [RCV004099481]uncertain significance63219571132195711Humanname
155915408CV2243766single nucleotide variantNM_004557.4(NOTCH4):c.4766C>T (p.Thr1589Ile)not specified [RCV004114459]uncertain significance63219758532197585Humanname
155962457CV2254401single nucleotide variantNM_004557.4(NOTCH4):c.5062C>T (p.Arg1688Cys)not specified [RCV004123786]uncertain significance63219706332197063Humanname
156150273CV2268870single nucleotide variantNM_004557.4(NOTCH4):c.5750C>T (p.Ser1917Phe)not specified [RCV004128288]uncertain significance63219569932195699Humanname
155967598CV2280460single nucleotide variantNM_004557.4(NOTCH4):c.3140T>C (p.Ile1047Thr)not specified [RCV004140629]uncertain significance63220386132203861Humanname
156283473CV2288902single nucleotide variantNM_004557.4(NOTCH4):c.5464G>A (p.Ala1822Thr)not specified [RCV004149875]uncertain significance63219598532195985Humanname
156088220CV2290667single nucleotide variantNM_004557.4(NOTCH4):c.5693G>A (p.Arg1898Gln)not specified [RCV004149198]uncertain significance63219575632195756Humanname
156088116CV2295482single nucleotide variantNM_004557.4(NOTCH4):c.4427G>A (p.Arg1476Gln)not specified [RCV004160596]uncertain significance63219903432199034Humanname
155942575CV2301238single nucleotide variantNM_004557.4(NOTCH4):c.3505C>T (p.Arg1169Trp)not specified [RCV004160141]uncertain significance63220232632202326Humanname
156014518CV2301486single nucleotide variantNM_004557.4(NOTCH4):c.5059C>T (p.Leu1687Phe)not specified [RCV004162408]uncertain significance63219706632197066Humanname
156292553CV2306237single nucleotide variantNM_004557.4(NOTCH4):c.4198C>T (p.Arg1400Cys)not specified [RCV004162970]uncertain significance63220094832200948Humanname
156100327CV2306612single nucleotide variantNM_004557.4(NOTCH4):c.3034G>C (p.Asp1012His)not specified [RCV004157212]uncertain significance63220422132204221Humanname
155919597CV2333225single nucleotide variantNM_004557.4(NOTCH4):c.5143G>A (p.Asp1715Asn)not specified [RCV004196558]uncertain significance63219698232196982Humanname
155987226CV2363785single nucleotide variantNM_004557.4(NOTCH4):c.4774A>T (p.Met1592Leu)not specified [RCV004218769]uncertain significance63219757732197577Humanname
155932142CV2364343single nucleotide variantNM_004557.4(NOTCH4):c.4768C>A (p.Pro1590Thr)not specified [RCV004223563]uncertain significance63219758332197583Humanname
156386915CV2364886single nucleotide variantNM_004557.4(NOTCH4):c.3601G>A (p.Gly1201Arg)not specified [RCV004221790]uncertain significance63220223032202230Humanname
156154477CV2369509single nucleotide variantNM_004557.4(NOTCH4):c.5612G>A (p.Arg1871His)not specified [RCV004210444]uncertain significance63219583732195837Humanname
156001216CV2378789single nucleotide variantNM_004557.4(NOTCH4):c.5497C>A (p.Pro1833Thr)not specified [RCV004231238]uncertain significance63219595232195952Humanname
156190278CV2391060single nucleotide variantNM_004557.4(NOTCH4):c.4283C>T (p.Pro1428Leu)not specified [RCV004235052]uncertain significance63220086332200863Humanname
329396445CV2462677single nucleotide variantNM_004557.4(NOTCH4):c.3748G>A (p.Ala1250Thr)not specified [RCV004278612]likely benign63220208332202083Humanname
401736327CV2682992single nucleotide variantNM_004557.4(NOTCH4):c.3202C>T (p.Pro1068Ser)not specified [RCV004283779]uncertain significance63220379932203799Humanname
11639746CV269862single nucleotide variantNM_004557.4(NOTCH4):c.4927C>T (p.Arg1643Ter)not provided [RCV000326235]uncertain significance63219742432197424Humanname
401769953CV2718965single nucleotide variantNM_004557.4(NOTCH4):c.5696G>C (p.Ser1899Thr)not specified [RCV004322556]uncertain significance63219575332195753Humanname
401893347CV2756615single nucleotide variantNM_004557.4(NOTCH4):c.5917A>T (p.Thr1973Ser)not specified [RCV004345137]uncertain significance63219553232195532Humanname
405678875CV3351962single nucleotide variantNM_004557.4(NOTCH4):c.3161C>T (p.Pro1054Leu)not specified [RCV004488263]uncertain significance63220384032203840Humanname
405678878CV3351963single nucleotide variantNM_004557.4(NOTCH4):c.3200C>T (p.Ser1067Leu)not specified [RCV004488264]uncertain significance63220380132203801Humanname
405678884CV3351964single nucleotide variantNM_004557.4(NOTCH4):c.3392C>T (p.Pro1131Leu)not specified [RCV004488265]uncertain significance63220243932202439Humanname
405678889CV3351965single nucleotide variantNM_004557.4(NOTCH4):c.3793A>G (p.Asn1265Asp)not specified [RCV004488266]uncertain significance63220146332201463Humanname
405678894CV3351966single nucleotide variantNM_004557.4(NOTCH4):c.3796G>A (p.Gly1266Arg)not specified [RCV004488267]uncertain significance63220146032201460Humanname
405678899CV3351967single nucleotide variantNM_004557.4(NOTCH4):c.4024T>C (p.Tyr1342His)not specified [RCV004488268]uncertain significance63220123232201232Humanname
405678904CV3351968single nucleotide variantNM_004557.4(NOTCH4):c.4063C>T (p.Arg1355Trp)not specified [RCV004488269]uncertain significance63220119332201193Humanname
405678909CV3351969single nucleotide variantNM_004557.4(NOTCH4):c.4064G>A (p.Arg1355Gln)not specified [RCV004488270]uncertain significance63220119232201192Humanname
405678914CV3351970single nucleotide variantNM_004557.4(NOTCH4):c.4070C>T (p.Pro1357Leu)not specified [RCV004488271]uncertain significance63220118632201186Humanname
405678918CV3351971single nucleotide variantNM_004557.4(NOTCH4):c.4196C>T (p.Ser1399Phe)not specified [RCV004488272]uncertain significance63220095032200950Humanname
405678924CV3351972single nucleotide variantNM_004557.4(NOTCH4):c.4475G>A (p.Arg1492Gln)not specified [RCV004488273]uncertain significance63219898632198986Humanname
405678927CV3351973single nucleotide variantNM_004557.4(NOTCH4):c.5548G>T (p.Val1850Leu)not specified [RCV004488274]uncertain significance63219590132195901Humanname
405678933CV3351974single nucleotide variantNM_004557.4(NOTCH4):c.5818C>T (p.Arg1940Cys)not specified [RCV004488275]uncertain significance63219563132195631Humanname
407515966CV3469294single nucleotide variantNM_004557.4(NOTCH4):c.5651T>C (p.Val1884Ala)not specified [RCV004650111]uncertain significance63219579832195798Humanname
407498319CV3469295single nucleotide variantNM_004557.4(NOTCH4):c.5405C>A (p.Ala1802Glu)not specified [RCV004643981]uncertain significance63219604432196044Humanname
407515968CV3469296single nucleotide variantNM_004557.4(NOTCH4):c.3274G>A (p.Gly1092Ser)not specified [RCV004650112]uncertain significance63220255732202557Humanname
407515971CV3469297single nucleotide variantNM_004557.4(NOTCH4):c.3656G>T (p.Arg1219Leu)not specified [RCV004650113]uncertain significance63220217532202175Humanname
407498327CV3469299single nucleotide variantNM_004557.4(NOTCH4):c.3998G>C (p.Arg1333Pro)not specified [RCV004643983]uncertain significance63220125832201258Humanname
407498330CV3469300single nucleotide variantNM_004557.4(NOTCH4):c.5915T>C (p.Leu1972Pro)not specified [RCV004643984]uncertain significance63219553432195534Humanname
407515974CV3469301single nucleotide variantNM_004557.4(NOTCH4):c.4415G>A (p.Arg1472Gln)not specified [RCV004650114]uncertain significance63219904632199046Humanname
407498334CV3469302single nucleotide variantNM_004557.4(NOTCH4):c.4051C>G (p.Leu1351Val)not specified [RCV004643985]uncertain significance63220120532201205Humanname
407515978CV3469304single nucleotide variantNM_004557.4(NOTCH4):c.5269G>C (p.Gly1757Arg)not specified [RCV004650115]uncertain significance63219635332196353Humanname
407498345CV3469308single nucleotide variantNM_004557.4(NOTCH4):c.4345G>A (p.Val1449Met)not specified [RCV004643988]uncertain significance63219911632199116Humanname
597674000CV3559549single nucleotide variantNM_004557.4(NOTCH4):c.3338G>A (p.Arg1113His)not specified [RCV004830122]uncertain significance63220249332202493Humanname
597674030CV3559552single nucleotide variantNM_004557.4(NOTCH4):c.5509G>A (p.Ala1837Thr)not specified [RCV004830125]uncertain significance63219594032195940Humanname
597674048CV3559554single nucleotide variantNM_004557.4(NOTCH4):c.5843A>G (p.Asp1948Gly)not specified [RCV004830127]uncertain significance63219560632195606Humanname
597674067CV3559556single nucleotide variantNM_004557.4(NOTCH4):c.3116C>T (p.Thr1039Ile)not specified [RCV004830129]uncertain significance63220413932204139Humanname
597675283CV3559558single nucleotide variantNM_004557.4(NOTCH4):c.3064G>A (p.Ala1022Thr)not specified [RCV004830131]uncertain significance63220419132204191Humanname
597675270CV3559559single nucleotide variantNM_004557.4(NOTCH4):c.5671G>T (p.Gly1891Cys)not specified [RCV004830132]uncertain significance63219577832195778Humanname
597675257CV3559560single nucleotide variantNM_004557.4(NOTCH4):c.4123G>A (p.Asp1375Asn)not specified [RCV004830133]uncertain significance63220113332201133Humanname
597675245CV3559561single nucleotide variantNM_004557.4(NOTCH4):c.3758C>T (p.Pro1253Leu)not specified [RCV004830134]uncertain significance63220149832201498Humanname
597675234CV3559562single nucleotide variantNM_004557.4(NOTCH4):c.4079A>G (p.Gln1360Arg)not specified [RCV004830135]uncertain significance63220117732201177Humanname
597675215CV3559564single nucleotide variantNM_004557.4(NOTCH4):c.5510C>T (p.Ala1837Val)not specified [RCV004830137]uncertain significance63219593932195939Humanname
597675207CV3559565single nucleotide variantNM_004557.4(NOTCH4):c.5728A>T (p.Thr1910Ser)not specified [RCV004830138]uncertain significance63219572132195721Humanname
597675193CV3559566single nucleotide variantNM_004557.4(NOTCH4):c.3338G>T (p.Arg1113Leu)not specified [RCV004830139]uncertain significance63220249332202493Humanname
597675170CV3559568single nucleotide variantNM_004557.4(NOTCH4):c.4039G>A (p.Ala1347Thr)not specified [RCV004830141]uncertain significance63220121732201217Humanname
597675146CV3559570single nucleotide variantNM_004557.4(NOTCH4):c.4789T>C (p.Cys1597Arg)not specified [RCV004830143]uncertain significance63219756232197562Humanname
597675121CV3559572single nucleotide variantNM_004557.4(NOTCH4):c.3650A>G (p.His1217Arg)not specified [RCV004830145]uncertain significance63220218132202181Humanname
598207677CV4000849single nucleotide variantNM_004557.4(NOTCH4):c.5792G>A (p.Arg1931Gln)not specified [RCV005377161]uncertain significance63219565732195657Humanname
598240415CV4000854single nucleotide variantNM_004557.4(NOTCH4):c.3499G>A (p.Gly1167Arg)not specified [RCV005383129]uncertain significance63220233232202332Humanname
598207704CV4000855single nucleotide variantNM_004557.4(NOTCH4):c.4496G>A (p.Arg1499Gln)not specified [RCV005377165]uncertain significance63219896532198965Humanname
598207716CV4000857single nucleotide variantNM_004557.4(NOTCH4):c.4142T>C (p.Phe1381Ser)not specified [RCV005377167]uncertain significance63220100432201004Humanname
598240421CV4000860single nucleotide variantNM_004557.4(NOTCH4):c.5210C>T (p.Ala1737Val)not specified [RCV005383130]uncertain significance63219641232196412Humanname
598240604CV4000862single nucleotide variantNM_004557.4(NOTCH4):c.3528G>C (p.Lys1176Asn)not specified [RCV005383131]uncertain significance63220230332202303Humanname
598207737CV4000863single nucleotide variantNM_004557.4(NOTCH4):c.4516G>A (p.Glu1506Lys)not specified [RCV005377171]uncertain significance63219894532198945Humanname
598240610CV4000865single nucleotide variantNM_004557.4(NOTCH4):c.5588C>T (p.Thr1863Met)not specified [RCV005383132]uncertain significance63219586132195861Humanname
598240616CV4000866single nucleotide variantNM_004557.4(NOTCH4):c.5419G>A (p.Ala1807Thr)not specified [RCV005383133]uncertain significance63219603032196030Humanname
598240622CV4000868single nucleotide variantNM_004557.4(NOTCH4):c.5081T>C (p.Val1694Ala)not specified [RCV005383134]uncertain significance63219704432197044Humanname
15145405CV710428single nucleotide variantNM_004557.4(NOTCH4):c.3637G>C (p.Gly1213Arg)not provided [RCV000966991]benign63220219432202194Humanname
15155332CV721963single nucleotide variantNM_004557.4(NOTCH4):c.5083G>A (p.Asp1695Asn)not provided [RCV000880396]likely benign63219704232197042Humanname
15128946CV750023single nucleotide variantNM_004557.4(NOTCH4):c.3295G>A (p.Gly1099Arg)not provided [RCV000919741]benign63220253632202536Humanname
10449667CV215340microsatelliteNM_004557.4(NOTCH4):c.18GCT[6] (p.Leu13_Leu16del)not specified [RCV000202715]benign63222388232223893Humanname
401920560CV2822922microsatelliteNM_004557.4(NOTCH4):c.18GCT[5] (p.Leu12_Leu16del)not provided [RCV003431787]likely benign63222388232223896Humanname
150494070CV1267278microsatelliteNM_004557.4(NOTCH4):c.18GCT[12] (p.Leu15_Leu16dup)not provided [RCV001688306]benign63222388132223882Humanname