{"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:7765,10,HGNC:7765,78,2]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:7765","source":"HGNC:7765|neurofibromin 1","targets":["1000129|NM_001042492.3(NF1):c.1339C>G (p.Leu447Val)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1000208|NM_001042492.3(NF1):c.4540A>C (p.Asn1514His)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1000212|NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1000531|NM_001042492.3(NF1):c.3833A>G (p.Asn1278Ser)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1000652|NM_001042492.3(NF1):c.4682G>C (p.Ser1561Thr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1000664|NM_001042492.3(NF1):c.7144T>A (p.Phe2382Ile)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1000709|NM_001042492.3(NF1):c.8443C>T (p.His2815Tyr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1001163|NM_001042492.3(NF1):c.3064A>G (p.Met1022Val)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1001184|NM_001042492.3(NF1):c.8182G>A (p.Ala2728Thr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1001317|NM_001042492.3(NF1):c.3708+3A>G|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1001908|NM_001042492.3(NF1):c.7685G>T (p.Gly2562Val)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1002109|NM_001042492.3(NF1):c.4808A>G (p.Asn1603Ser)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1002110|NM_001042492.3(NF1):c.4931A>G (p.Asp1644Gly)|single nucleotide variant|Pathogenic/Likely pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1002111|NM_001042492.3(NF1):c.5270T>A (p.Val1757Asp)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1002112|NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1002113|NM_001042492.3(NF1):c.7009CTT[1] (p.Leu2338del)|Microsatellite|Conflicting classifications of pathogenicity|NF1|criteria provided, conflicting classifications|17","1002141|NM_001042492.3(NF1):c.7241A>C (p.His2414Pro)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1002156|NM_001042492.3(NF1):c.2705T>G (p.Met902Arg)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1002183|NM_001042492.3(NF1):c.5015A>G (p.Asp1672Gly)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1002219|NM_001042492.3(NF1):c.6642+6G>A|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1002286|NM_001042492.3(NF1):c.6147+5T>C|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1002598|NM_001042492.3(NF1):c.2409+5G>C|single nucleotide variant|Conflicting classifications of pathogenicity|NF1|criteria provided, conflicting classifications|17","1002863|NM_001042492.3(NF1):c.4471G>A (p.Ala1491Thr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1003143|NM_001042492.3(NF1):c.6886_6903del (p.Ile2296_Leu2301del)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1003217|NM_001042492.3(NF1):c.6242T>C (p.Leu2081Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|NF1|criteria provided, conflicting classifications|17","1003270|NM_001042492.3(NF1):c.3757C>T (p.Leu1253Phe)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1003484|NM_001042492.3(NF1):c.6566C>T (p.Pro2189Leu)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1003594|NM_001042492.3(NF1):c.5997C>A (p.Ser1999Arg)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1003818|NM_001042492.3(NF1):c.730+4A>G|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1003831|NM_001042492.3(NF1):c.2851-23_2851-7del|Deletion|Uncertain significance|NF1|criteria provided, single submitter|17","1003964|NM_001042492.3(NF1):c.3709-3C>T|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1004008|NM_001042492.3(NF1):c.3539T>G (p.Met1180Arg)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1004034|NM_001042492.3(NF1):c.1762C>A (p.His588Asn)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1004202|NM_001042492.3(NF1):c.7496G>C (p.Gly2499Ala)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1004269|NM_001042492.3(NF1):c.172C>T (p.Leu58Phe)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1004375|NM_001042492.3(NF1):c.7526C>G (p.Pro2509Arg)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1004725|NM_001042492.3(NF1):c.1831CTT[1] (p.Leu612del)|Microsatellite|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1004756|NM_001042492.3(NF1):c.7540A>G (p.Thr2514Ala)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1005000|NM_001042492.3(NF1):c.6044T>C (p.Ile2015Thr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1005064|NM_001042492.3(NF1):c.562G>A (p.Ala188Thr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1005065|NM_001042492.3(NF1):c.1955G>T (p.Arg652Leu)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1005302|NM_001042492.3(NF1):c.508G>T (p.Asp170Tyr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1005316|NM_001042492.3(NF1):c.5816T>G (p.Ile1939Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|NF1|criteria provided, conflicting classifications|17","1005455|NM_001042492.3(NF1):c.1940A>C (p.His647Pro)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1005475|NM_001042492.3(NF1):c.4247C>G (p.Pro1416Arg)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1005591|NM_001042492.3(NF1):c.3598G>T (p.Val1200Leu)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1005725|NM_001042492.3(NF1):c.7374A>C (p.Arg2458Ser)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1006015|NM_001042492.3(NF1):c.4221T>G (p.Ser1407Arg)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1006086|NM_001042492.3(NF1):c.8237T>C (p.Ile2746Thr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1006103|NM_001042492.3(NF1):c.6781C>G (p.His2261Asp)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1006219|NM_001042492.3(NF1):c.769G>C (p.Ala257Pro)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1006225|NM_001042492.3(NF1):c.4828G>A (p.Ala1610Thr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1006552|NM_001042492.3(NF1):c.5564T>C (p.Leu1855Pro)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1006747|NM_001042492.3(NF1):c.1746C>G (p.Cys582Trp)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1006776|NC_000017.10:g.(?_29482991)_(29534143_?)dup|Duplication|Uncertain significance|NF1|criteria provided, single submitter|17","1006777|NC_000017.10:g.(?_29679265)_(29701183_?)dup|Duplication|Uncertain significance|NF1|criteria provided, single submitter|17","1006988|NM_001042492.3(NF1):c.3971C>T (p.Thr1324Ile)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1007112|NM_001042492.3(NF1):c.1183A>C (p.Lys395Gln)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1007531|NM_001042492.3(NF1):c.7072G>C (p.Glu2358Gln)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1007592|NM_001042492.3(NF1):c.1930_1935del (p.Ser644_Met645del)|Deletion|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1007597|NM_001042492.3(NF1):c.5831T>C (p.Leu1944Pro)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1007726|NM_001042492.3(NF1):c.2822T>C (p.Ile941Thr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1007821|NM_001042492.3(NF1):c.4531C>G (p.Leu1511Val)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1008058|NM_001042492.3(NF1):c.3387C>T (p.Gly1129=)|single nucleotide variant|Likely benign|NF1|criteria provided, single submitter|17","1008114|NM_001042492.3(NF1):c.6548G>A (p.Arg2183Gln)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1008150|NM_001042492.3(NF1):c.230A>C (p.Lys77Thr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1008265|NM_001042492.3(NF1):c.6620_6622del (p.Glu2207del)|Deletion|Uncertain significance|NF1|criteria provided, single submitter|17","1008291|NM_001042492.3(NF1):c.4390T>C (p.Phe1464Leu)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1008294|NM_001042492.3(NF1):c.1073T>A (p.Phe358Tyr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1008786|NM_001042492.3(NF1):c.4267G>A (p.Glu1423Lys)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1008922|NM_001042492.3(NF1):c.2254A>G (p.Arg752Gly)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1009113|NM_001042492.3(NF1):c.1222T>G (p.Tyr408Asp)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1009132|NM_001042492.3(NF1):c.61C>G (p.Leu21Val)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1009223|NM_001042492.3(NF1):c.6292G>A (p.Ala2098Thr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1009231|NM_001042492.3(NF1):c.6861T>G (p.Ser2287Arg)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1009308|NM_001042492.3(NF1):c.5419G>A (p.Gly1807Ser)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1009326|NM_001042492.3(NF1):c.3988G>C (p.Glu1330Gln)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1009543|NM_001042492.3(NF1):c.3695C>T (p.Pro1232Leu)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1009689|NM_001042492.3(NF1):c.4286A>G (p.Lys1429Arg)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1009869|NM_001042492.3(NF1):c.3338T>C (p.Leu1113Pro)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1009951|NM_001042492.3(NF1):c.101T>C (p.Val34Ala)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1010091|NM_001042492.3(NF1):c.3475A>G (p.Ser1159Gly)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1010168|NM_001042492.3(NF1):c.7204T>G (p.Ser2402Ala)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1010306|NM_001042492.3(NF1):c.8395G>C (p.Val2799Leu)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1010353|NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1010838|NM_001042492.3(NF1):c.7036G>C (p.Asp2346His)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1011493|NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1011694|NM_001042492.3(NF1):c.4197G>C (p.Gln1399His)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1012106|NM_001042492.3(NF1):c.4775T>C (p.Ile1592Thr)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1012133|NM_001042492.3(NF1):c.6787C>A (p.Gln2263Lys)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1012198|NM_001042492.3(NF1):c.238del (p.Tyr80fs)|Deletion|Likely pathogenic|NF1|criteria provided, single submitter|17","1012199|NM_001042492.3(NF1):c.598A>T (p.Lys200Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1013131|NM_001042492.3(NF1):c.587-3C>A|single nucleotide variant|Likely pathogenic|NF1|criteria provided, single submitter|17","1013132|NM_001042492.3(NF1):c.978dup (p.Leu327fs)|Duplication|Pathogenic|NF1|criteria provided, single submitter|17","1013391|GRCh37/hg19 17q11.2(chr17:29679275-29679432)x1|copy number loss|Pathogenic|NF1|criteria provided, single submitter|17","1013776|NM_001042492.3(NF1):c.2877A>G (p.Gln959=)|single nucleotide variant|Conflicting classifications of pathogenicity|NF1|criteria provided, conflicting classifications|17","1014107|NM_001042492.3(NF1):c.2002G>A (p.Asp668Asn)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1014272|NM_001042492.3(NF1):c.2818A>G (p.Thr940Ala)|single nucleotide variant|Uncertain significance|NF1|criteria provided, single submitter|17","1014352|NM_001042492.3(NF1):c.1940A>G (p.His647Arg)|single nucleotide variant|Uncertain significance|NF1|criteria provided, multiple submitters, no conflicts|17","1014532|NC_000017.10:g.(?_29687495)_(29701173_?)dup|Duplication|Uncertain significance|NF1|criteria provided, single submitter|17"]}]}