{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:7881,10,HGNC:7881,99,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:7881","source":"HGNC:7881|notch receptor 1","targets":["1000120|NM_017617.5(NOTCH1):c.3724G>A (p.Gly1242Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1000234|NM_017617.5(NOTCH1):c.7114C>T (p.Arg2372Trp)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1000281|NM_017617.5(NOTCH1):c.3683C>T (p.Pro1228Leu)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1000465|NM_017617.5(NOTCH1):c.5795T>C (p.Leu1932Ser)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1000697|NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1000850|NM_017617.5(NOTCH1):c.7175T>A (p.Met2392Lys)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1001405|NM_017617.5(NOTCH1):c.4906G>A (p.Glu1636Lys)|single nucleotide variant|Benign|NOTCH1|criteria provided, single submitter|9","1001513|NM_017617.5(NOTCH1):c.1384C>G (p.Gln462Glu)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1001892|NM_017617.5(NOTCH1):c.230T>G (p.Val77Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1002174|NM_017617.5(NOTCH1):c.2435G>C (p.Gly812Ala)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1003369|NM_017617.5(NOTCH1):c.5434G>A (p.Glu1812Lys)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1004914|NM_017617.5(NOTCH1):c.748A>T (p.Thr250Ser)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1006021|NM_017617.5(NOTCH1):c.1027G>A (p.Ala343Thr)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1006482|NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1007757|NM_017617.5(NOTCH1):c.1266C>G (p.Pro422=)|single nucleotide variant|Benign/Likely benign|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1008586|NM_017617.5(NOTCH1):c.4587-8C>A|single nucleotide variant|Likely benign|NOTCH1|criteria provided, single submitter|9","1008841|NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1008845|NM_017617.5(NOTCH1):c.3544GAG[1] (p.Glu1183del)|Microsatellite|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1009777|NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1010210|NM_017617.5(NOTCH1):c.6668T>C (p.Phe2223Ser)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1011208|NM_017617.5(NOTCH1):c.7382G>T (p.Ser2461Ile)|single nucleotide variant|Likely benign|NOTCH1|criteria provided, single submitter|9","1011533|NM_017617.5(NOTCH1):c.6536G>C (p.Arg2179Pro)|single nucleotide variant|Likely benign|NOTCH1|criteria provided, single submitter|9","1014759|NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1014951|NM_017617.5(NOTCH1):c.5473-8C>G|single nucleotide variant|Likely benign|NOTCH1|criteria provided, single submitter|9","1016511|NM_017617.5(NOTCH1):c.7472C>A (p.Ser2491Tyr)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1016736|NM_017617.5(NOTCH1):c.2558T>G (p.Phe853Cys)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1016900|NM_017617.5(NOTCH1):c.3771G>A (p.Pro1257=)|single nucleotide variant|Benign/Likely benign|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1017356|NM_017617.5(NOTCH1):c.4237C>T (p.Arg1413Cys)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1018252|NM_017617.5(NOTCH1):c.5472+9C>T|single nucleotide variant|Likely benign|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1019643|NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1020628|NM_017617.5(NOTCH1):c.3230C>T (p.Thr1077Ile)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1020714|NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn)|Indel|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1022512|NM_017617.5(NOTCH1):c.6311G>A (p.Arg2104His)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1023083|NM_017617.5(NOTCH1):c.700C>T (p.Arg234Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1023930|NM_017617.5(NOTCH1):c.4130C>T (p.Pro1377Leu)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1024141|NM_017617.5(NOTCH1):c.3879C>T (p.Cys1293=)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1024500|NM_017617.5(NOTCH1):c.6451C>T (p.Pro2151Ser)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1025041|NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1025308|NM_017617.5(NOTCH1):c.3547G>A (p.Glu1183Lys)|single nucleotide variant|Likely benign|NOTCH1|criteria provided, single submitter|9","1025481|NM_017617.5(NOTCH1):c.5870A>C (p.Gln1957Pro)|single nucleotide variant|Benign|NOTCH1|criteria provided, single submitter|9","1026412|NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1027328|NM_017617.5(NOTCH1):c.3609C>A (p.Asn1203Lys)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1029477|NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1029624|NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1029625|NM_017617.5(NOTCH1):c.4294T>A (p.Phe1432Ile)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1029626|NM_017617.5(NOTCH1):c.5384+3G>C|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1033430|NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del)|Deletion|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1033431|NM_017617.5(NOTCH1):c.1256-15G>A|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1033432|NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1033433|NM_017617.5(NOTCH1):c.5661C>G (p.Ile1887Met)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1035741|NM_017617.5(NOTCH1):c.7126C>A (p.Gln2376Lys)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1036234|NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1036564|NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1036675|NM_017617.5(NOTCH1):c.2995G>A (p.Val999Met)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1038004|NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1039599|NM_017617.5(NOTCH1):c.4297G>C (p.Gly1433Arg)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1039617|NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr)|single nucleotide variant|Conflicting classifications of pathogenicity; other|NOTCH1|criteria provided, conflicting classifications|9","1040567|NM_017617.5(NOTCH1):c.2207+6C>T|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1040810|NM_017617.5(NOTCH1):c.3866A>G (p.Asn1289Ser)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1040831|NM_017617.5(NOTCH1):c.2420T>C (p.Ile807Thr)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1041305|NM_017617.5(NOTCH1):c.712G>A (p.Asp238Asn)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1041970|NM_017617.5(NOTCH1):c.3353A>G (p.His1118Arg)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1042240|NM_017617.5(NOTCH1):c.4741C>T (p.Pro1581Ser)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1042365|NM_017617.5(NOTCH1):c.6585C>T (p.Gly2195=)|single nucleotide variant|Likely benign|NOTCH1|criteria provided, single submitter|9","1042480|NC_000009.11:g.(?_139390513)_(139440248_?)dup|Duplication|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1042519|NM_017617.5(NOTCH1):c.6413dup (p.Leu2139fs)|Duplication|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1042691|NM_017617.5(NOTCH1):c.1461C>T (p.Cys487=)|single nucleotide variant|Benign/Likely benign|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1043690|NM_017617.5(NOTCH1):c.365T>G (p.Leu122Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1043782|NM_017617.5(NOTCH1):c.6456C>T (p.Gly2152=)|single nucleotide variant|Benign/Likely benign|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1044217|NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1044635|NM_017617.5(NOTCH1):c.4675C>T (p.Leu1559=)|single nucleotide variant|Likely benign|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1045128|NM_017617.5(NOTCH1):c.2630C>T (p.Pro877Leu)|single nucleotide variant|Benign|NOTCH1|criteria provided, single submitter|9","1045132|NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1045662|NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1045800|NM_017617.5(NOTCH1):c.5050C>A (p.Gln1684Lys)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1046118|NM_017617.5(NOTCH1):c.3520G>A (p.Gly1174Ser)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1047056|NM_017617.5(NOTCH1):c.1988A>T (p.Glu663Val)|single nucleotide variant|Likely benign|NOTCH1|criteria provided, single submitter|9","1048775|NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1049066|NM_017617.5(NOTCH1):c.3332A>G (p.Asp1111Gly)|single nucleotide variant|Uncertain significance|NOTCH1|no assertion criteria provided|9","1050916|NM_017617.5(NOTCH1):c.242G>A (p.Gly81Asp)|single nucleotide variant|Likely benign|NOTCH1|criteria provided, single submitter|9","1051166|NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1051533|NM_017617.5(NOTCH1):c.1661G>A (p.Cys554Tyr)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1052183|NM_017617.5(NOTCH1):c.4103G>A (p.Arg1368His)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1052402|NM_017617.5(NOTCH1):c.374A>T (p.Tyr125Phe)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1052903|NM_017617.5(NOTCH1):c.5570C>G (p.Ala1857Gly)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1053105|NM_017617.5(NOTCH1):c.1868A>G (p.Asn623Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1053846|NM_017617.5(NOTCH1):c.499C>T (p.Pro167Ser)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1054160|NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1055377|NM_017617.5(NOTCH1):c.4312C>A (p.Arg1438Ser)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1056079|NM_017617.5(NOTCH1):c.3644-7C>G|single nucleotide variant|Likely benign|NOTCH1|criteria provided, single submitter|9","1056126|NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1056177|NM_017617.5(NOTCH1):c.7235C>G (p.Pro2412Arg)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1056311|NM_017617.5(NOTCH1):c.4444A>G (p.Asn1482Asp)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1056512|NM_017617.5(NOTCH1):c.4941G>A (p.Gln1647=)|single nucleotide variant|Likely benign|NOTCH1|criteria provided, single submitter|9","1056935|NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1058227|NM_017617.5(NOTCH1):c.226G>A (p.Val76Met)|single nucleotide variant|Benign|NOTCH1|criteria provided, single submitter|9","1058715|NM_017617.5(NOTCH1):c.3510+3G>C|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9","1059556|NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1059669|NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)|single nucleotide variant|Conflicting classifications of pathogenicity|NOTCH1|criteria provided, conflicting classifications|9","1060820|NM_017617.5(NOTCH1):c.7327G>T (p.Val2443Leu)|single nucleotide variant|Uncertain significance|NOTCH1|criteria provided, single submitter|9"]}]}