{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":85,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:7881","source":"HGNC:7881|notch receptor 1","targets":["1072334|NM_017617.5(NOTCH1):c.4363C>T (p.Gln1455Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","1074216|NM_017617.5(NOTCH1):c.4396C>T (p.Gln1466Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","1075050|NM_017617.5(NOTCH1):c.1784_1787del (p.Tyr595fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","12476|NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, multiple submitters, no conflicts|9","12477|NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs)|Deletion|Pathogenic|NOTCH1|no assertion criteria provided|9","1279937|NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","1344732|NM_017617.5(NOTCH1):c.2272G>T (p.Glu758Ter)|single nucleotide variant|Pathogenic|NOTCH1|no assertion criteria provided|9","1344783|NM_017617.5(NOTCH1):c.3463C>T (p.Gln1155Ter)|single nucleotide variant|Pathogenic|NOTCH1|no assertion criteria provided|9","1344870|NM_017617.5(NOTCH1):c.2155G>T (p.Glu719Ter)|single nucleotide variant|Pathogenic|NOTCH1|no assertion criteria provided|9","1409179|NM_017617.5(NOTCH1):c.1800_1801dup (p.Glu601fs)|Duplication|Pathogenic|NOTCH1|criteria provided, single submitter|9","1428655|NM_017617.5(NOTCH1):c.428del (p.Pro143fs)|Deletion|Pathogenic|NOTCH1|criteria provided, multiple submitters, no conflicts|9","1453811|NM_017617.5(NOTCH1):c.763_773del (p.Glu255fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","1456559|NC_000009.11:g.(?_139404165)_(139405277_?)del|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","1698389|NM_017617.5(NOTCH1):c.1116_1118delinsAC (p.Asn373fs)|Indel|Pathogenic|NOTCH1|criteria provided, single submitter|9","1723182|NM_017617.5(NOTCH1):c.6626_6629del (p.Tyr2209fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","1784431|NM_017617.5(NOTCH1):c.2012_2013dup (p.Gly672fs)|Microsatellite|Pathogenic|NOTCH1|criteria provided, single submitter|9","1961662|NM_017617.5(NOTCH1):c.2759dup (p.Ser921fs)|Duplication|Pathogenic|NOTCH1|criteria provided, single submitter|9","208337|NM_017617.5(NOTCH1):c.4775T>G (p.Phe1592Cys)|single nucleotide variant|Pathogenic|NOTCH1|no assertion criteria provided|9","2123517|NM_017617.5(NOTCH1):c.410C>A (p.Ser137Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","2131756|NM_017617.5(NOTCH1):c.5310_5314dup (p.Gly1772fs)|Duplication|Pathogenic|NOTCH1|criteria provided, single submitter|9","219375|NM_017617.5(NOTCH1):c.1343G>A (p.Arg448Gln)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","219378|NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter)|Duplication|Pathogenic|NOTCH1|criteria provided, single submitter|9","219380|NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","219381|NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs)|Duplication|Pathogenic|NOTCH1|criteria provided, single submitter|9","221997|NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter)|single nucleotide variant|Pathogenic|NOTCH1|no assertion criteria provided|9","221998|NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","221999|NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp)|single nucleotide variant|Pathogenic|NOTCH1|no assertion criteria provided|9","2631128|NM_017617.5(NOTCH1):c.2536C>T (p.Gln846Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","2632882|NM_017617.5(NOTCH1):c.4315_4318dup (p.Ile1440fs)|Duplication|Pathogenic|NOTCH1|criteria provided, single submitter|9","2633308|NM_017617.5(NOTCH1):c.2436del (p.Tyr813fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","2636214|NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, multiple submitters, no conflicts|9","2671929|NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)|Deletion|Pathogenic|NOTCH1|criteria provided, multiple submitters, no conflicts|9","2691765|NM_017617.5(NOTCH1):c.5078T>C (p.Phe1693Ser)|single nucleotide variant|Pathogenic|NOTCH1|no assertion criteria provided|9","2695701|NM_017617.5(NOTCH1):c.2880C>A (p.Cys960Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","2822065|NM_017617.5(NOTCH1):c.4021G>T (p.Glu1341Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","2843383|NM_017617.5(NOTCH1):c.3792_3793del (p.Cys1264_Glu1265delinsTer)|Microsatellite|Pathogenic|NOTCH1|criteria provided, single submitter|9","2844046|NM_017617.5(NOTCH1):c.5906dup (p.Ser1970fs)|Duplication|Pathogenic|NOTCH1|criteria provided, single submitter|9","2895682|NM_017617.5(NOTCH1):c.4483_4504del (p.Gln1495fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","3027324|NM_017617.5(NOTCH1):c.2407C>T (p.Gln803Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","3051738|NM_017617.5(NOTCH1):c.3170del (p.Gln1057fs)|Deletion|Pathogenic|NOTCH1|no assertion criteria provided|9","3075683|NM_017617.5(NOTCH1):c.6919C>T (p.Gln2307Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","3235929|NM_017617.5(NOTCH1):c.2278_2282del (p.Asn760fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","3245274|NC_000009.11:g.(?_139391202)_(139531567_?)del|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","3245275|NC_000009.11:g.(?_139440158)_(139440238_?)del|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","3245276|NC_000009.11:g.(?_139438456)_(139440238_?)del|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","3340287|NM_017617.5(NOTCH1):c.1904-2A>G|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","3340288|NM_017617.5(NOTCH1):c.1650C>G (p.Tyr550Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","3345218|NM_017617.5(NOTCH1):c.3332_3347del (p.Asp1111fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","3376671|NM_017617.5(NOTCH1):c.5496_5505delinsGGT (p.Asp1833fs)|Indel|Pathogenic|NOTCH1|criteria provided, single submitter|9","3384227|NM_017617.5(NOTCH1):c.5678del (p.Gly1893fs)|Deletion|Pathogenic|NOTCH1|no assertion criteria provided|9","3389911|NM_017617.5(NOTCH1):c.3656_3666del (p.Glu1219fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","3647160|NM_017617.5(NOTCH1):c.5315del (p.Gly1772fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","3658668|NM_017617.5(NOTCH1):c.1847del (p.Gly616fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","3709099|NM_017617.5(NOTCH1):c.4913G>A (p.Trp1638Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","3719865|NM_017617.5(NOTCH1):c.4458dup (p.Trp1487fs)|Duplication|Pathogenic|NOTCH1|criteria provided, single submitter|9","3723115|NM_017617.5(NOTCH1):c.5524C>T (p.Gln1842Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","374271|NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter)|single nucleotide variant|Pathogenic|NOTCH1|no assertion criteria provided|9","3880477|NM_017617.5(NOTCH1):c.3909_3919del (p.Cys1304fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","4056882|NM_017617.5(NOTCH1):c.5934+1G>A|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","4121673|NM_017617.5(NOTCH1):c.3129C>G (p.Tyr1043Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","422753|NM_017617.5(NOTCH1):c.2023del (p.Cys675fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","426360|NM_017617.5(NOTCH1):c.6593C>A (p.Ser2198Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","4291131|NM_017617.5(NOTCH1):c.3316C>T (p.Gln1106Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","4293949|NM_017617.5(NOTCH1):c.873C>G (p.Tyr291Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","4532122|NM_017617.5(NOTCH1):c.4584C>A (p.Cys1528Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","4635489|NM_017617.5(NOTCH1):c.1896del (p.Thr633fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","4687945|NM_017617.5(NOTCH1):c.1987G>T (p.Glu663Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","520577|NM_017617.5(NOTCH1):c.3052del (p.Cys1018fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","521568|NM_017617.5(NOTCH1):c.166C>T (p.Arg56Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, multiple submitters, no conflicts|9","523583|NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","523584|NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs)|Indel|Pathogenic|NOTCH1|criteria provided, single submitter|9","523585|NM_017617.5(NOTCH1):c.1935_1936del (p.Ala646fs)|Microsatellite|Pathogenic|NOTCH1|criteria provided, single submitter|9","523594|NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","523596|NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","523597|NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","544178|NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, multiple submitters, no conflicts|9","544179|NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","566177|NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","572044|NM_017617.5(NOTCH1):c.1396del (p.Thr466fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","635566|NOTCH1, PRO1797HIS|single nucleotide variant|Pathogenic|NOTCH1|no assertion criteria provided|","642523|NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs)|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","645087|NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter)|single nucleotide variant|Pathogenic|NOTCH1|criteria provided, single submitter|9","817997|NM_017617.5(NOTCH1):c.2448dup (p.Cys817fs)|Duplication|Pathogenic|NOTCH1|criteria provided, multiple submitters, no conflicts|9","832844|NC_000009.12:g.(?_136496061)_(136523989_?)del|Deletion|Pathogenic|NOTCH1|criteria provided, single submitter|9","845149|NM_017617.5(NOTCH1):c.1017_1018del (p.Ala340fs)|Microsatellite|Pathogenic|NOTCH1|criteria provided, single submitter|9"]}]}