{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:7765,10,HGNC:7765,125,6]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:7765","source":"HGNC:7765|neurofibromin 1","targets":["1003143|NM_001042492.3(NF1):c.6886_6903del (p.Ile2296_Leu2301del)|Deletion|Pathogenic|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","1012199|NM_001042492.3(NF1):c.598A>T (p.Lys200Ter)|single nucleotide variant|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","1037719|NM_001042492.3(NF1):c.2324A>C (p.Glu775Ala)|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1042357|NM_001042492.3(NF1):c.3496G>T (p.Gly1166Cys)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1042977|NM_001042492.3(NF1):c.725T>G (p.Met242Arg)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1044895|NM_001042492.3(NF1):c.4931A>C (p.Asp1644Ala)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1048673|NM_001042492.3(NF1):c.7171del (p.Val2391fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1048674|NM_001042492.3(NF1):c.7739-3_7743delCAGAAACT|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048676|NM_001042492.3(NF1):c.6488del (p.Leu2163fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1048677|NM_001042492.3(NF1):c.1714dup (p.Glu572fs)|Duplication|Pathogenic|NF1|no assertion criteria provided|17","1048679|NM_001042492.3(NF1):c.1702_1703dup (p.Thr569fs)|Duplication|Pathogenic|NF1|no assertion criteria provided|17","1048680|NM_001042492.3(NF1):c.3114-1G>C|single nucleotide variant|Pathogenic|NF1|no assertion criteria provided|17","1048682|NM_001042492.3(NF1):c.2034_2035insC (p.Ile679fs)|Insertion|Pathogenic|NF1|no assertion criteria provided|17","1048683|NM_001042492.3(NF1):c.1920del (p.Ser641fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1048684|NM_001042492.3(NF1):c.3641dup (p.Met1214fs)|Duplication|Pathogenic|NF1|no assertion criteria provided|17","1048685|NM_001042492.3(NF1):c.2248dup (p.Thr750fs)|Duplication|Pathogenic|NF1|no assertion criteria provided|17","1048686|NM_001042492.3(NF1):c.4327del (p.Ser1443fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048687|NM_001042492.3(NF1):c.546dup (p.Ile183fs)|Duplication|Pathogenic|NF1|no assertion criteria provided|17","1048688|NM_001042492.3(NF1):c.3641_3645del (p.Met1214fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048689|NM_001042492.3(NF1):c.4578-9T>A|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1048690|NM_001042492.3(NF1):c.3574G>T (p.Glu1192Ter)|single nucleotide variant|Pathogenic|NF1|no assertion criteria provided|17","1048691|NM_001042492.3(NF1):c.160del (p.Val54fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048694|NM_001042492.3(NF1):c.2847_2850+1del|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048695|NM_001042492.3(NF1):c.1691_1692insC (p.Ala565fs)|Insertion|Pathogenic|NF1|no assertion criteria provided|17","1048696|NM_001042492.3(NF1):c.3104del (p.Met1035fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1048698|NM_001042492.3(NF1):c.5040T>A (p.Tyr1680Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1048700|NM_001042492.3(NF1):c.6732del (p.Gln2245fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048701|NM_001042492.3(NF1):c.1358del (p.Gly453fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048702|NM_001042492.3(NF1):c.7048del (p.Ile2350fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048703|NM_001042492.3(NF1):c.3778del (p.Met1260fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048704|NM_001042492.3(NF1):c.693del (p.Phe231fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1048705|NM_001042492.3(NF1):c.1022_1023insGA (p.Ile342fs)|Insertion|Pathogenic|NF1|no assertion criteria provided|17","1048706|NM_001042492.3(NF1):c.501T>A (p.Cys167Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1048708|NM_001042492.3(NF1):c.6564dup (p.Pro2189fs)|Duplication|Pathogenic|NF1|criteria provided, single submitter|17","1048709|NM_001042492.3(NF1):c.7060A>T (p.Lys2354Ter)|single nucleotide variant|Pathogenic|NF1|no assertion criteria provided|17","1048711|NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1048713|NM_001042492.3(NF1):c.2957del (p.Ala986fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048714|NM_001042492.3(NF1):c.350dup (p.Cys118fs)|Duplication|Pathogenic|NF1|no assertion criteria provided|17","1048715|NM_001042492.3(NF1):c.3870_3871insTAG (p.Val1291Ter)|Insertion|Pathogenic|NF1|no assertion criteria provided|17","1048716|NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1048717|NM_001042492.3(NF1):c.6100dup (p.Thr2034fs)|Duplication|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1048719|NM_001042492.3(NF1):c.2858T>A (p.Leu953Ter)|single nucleotide variant|Pathogenic|NF1|no assertion criteria provided|17","1048722|NM_001042492.3(NF1):c.5390del (p.Asn1797fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048723|NM_001042492.3(NF1):c.7788_7789insG (p.Ser2597fs)|Insertion|Pathogenic|NF1|no assertion criteria provided|17","1048724|NM_001042492.3(NF1):c.2409_2409+4delinsC|Indel|Pathogenic|NF1|no assertion criteria provided|17","1048726|NM_001042492.3(NF1):c.4981A>T (p.Lys1661Ter)|single nucleotide variant|Pathogenic|NF1|no assertion criteria provided|17","1048727|NM_001042492.3(NF1):c.6820-2A>C|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1048728|NM_001042492.3(NF1):c.2831_2832insAAAA (p.Phe944fs)|Insertion|Pathogenic|NF1|no assertion criteria provided|17","1048729|NM_001042492.3(NF1):c.4563T>G (p.Tyr1521Ter)|single nucleotide variant|Pathogenic|NF1|no assertion criteria provided|17","1048731|NM_001042492.3(NF1):c.6720_6721dup (p.Asn2241fs)|Microsatellite|Pathogenic|NF1|no assertion criteria provided|17","1048732|NM_001042492.3(NF1):c.654+2T>C|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1048733|NM_001042492.3(NF1):c.6591del (p.Phe2197fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1048734|NM_001042492.3(NF1):c.3595del (p.Thr1199fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048735|NM_001042492.3(NF1):c.4509dup (p.Val1504fs)|Duplication|Pathogenic|NF1|criteria provided, single submitter|17","1048737|NM_001042492.3(NF1):c.4313del (p.Gly1438fs)|Deletion|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1048738|NM_001042492.3(NF1):c.7376del (p.Lys2459fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048739|NM_001042492.3(NF1):c.2729del (p.Gly910fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1048741|NM_001042492.3(NF1):c.288_288+2del|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048742|NM_001042492.3(NF1):c.3789del (p.Glu1264fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048743|NM_001042492.3(NF1):c.586G>T (p.Glu196Ter)|single nucleotide variant|Pathogenic|NF1|no assertion criteria provided|17","1048744|NM_001042492.3(NF1):c.376G>T (p.Glu126Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1048745|NM_001042492.3(NF1):c.2082del (p.Leu695fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1048746|NM_001042492.3(NF1):c.5473_5506del (p.Ile1825fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048747|NM_001042492.3(NF1):c.4432_4433insAA (p.Phe1478Ter)|Insertion|Pathogenic|NF1|no assertion criteria provided|17","1048748|NM_001042492.3(NF1):c.385C>T (p.Gln129Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1048749|NM_001042492.3(NF1):c.5609+1G>T|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1048750|NM_001042492.3(NF1):c.2009_2016dup (p.Cys673fs)|Duplication|Pathogenic|NF1|no assertion criteria provided|17","1048752|NM_001042492.3(NF1):c.1101del (p.Ser368fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048753|NM_001042492.3(NF1):c.7814del (p.Leu2605fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1048754|NM_001042492.3(NF1):c.6004del (p.Gln2002fs)|Deletion|Pathogenic|NF1|no assertion criteria provided|17","1051408|NM_001042492.3(NF1):c.2868_2873del (p.Asn957_Thr958del)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1055262|NM_001042492.3(NF1):c.4915T>A (p.Tyr1639Asn)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1064549|NM_001042492.3(NF1):c.1250_1251insTT (p.Ile418fs)|Insertion|Pathogenic|NF1|criteria provided, single submitter|17","1064550|NM_001042492.3(NF1):c.3639_3640del (p.Met1214fs)|Deletion|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1064551|NM_001042492.3(NF1):c.889A>T (p.Lys297Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1066182|NM_001042492.3(NF1):c.4577+1G>C|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1066465|NM_001042492.3(NF1):c.6148-1G>A|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1068190|NM_001042492.3(NF1):c.6427+1G>A|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1068415|NM_001042492.3(NF1):c.888+2T>A|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1068504|NM_001042492.3(NF1):c.2986_2987del (p.Val996fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1068554|NM_001042492.3(NF1):c.6186C>A (p.Cys2062Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1068562|NM_001042492.3(NF1):c.2276_2277del (p.Val759fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1068657|NM_001042492.3(NF1):c.2353G>T (p.Glu785Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1068661|NM_001042492.3(NF1):c.2614G>T (p.Glu872Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1068701|NM_001042492.3(NF1):c.3528_3544del (p.Arg1176fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1068930|NM_001042492.3(NF1):c.3122dup (p.Met1041fs)|Duplication|Pathogenic|NF1|criteria provided, single submitter|17","1068971|NM_001042492.3(NF1):c.6204_6211del (p.Leu2069fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1068972|NM_001042492.3(NF1):c.3141del (p.Trp1048fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1069051|NM_001042492.3(NF1):c.288+5G>C|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1069058|NM_001042492.3(NF1):c.2398G>T (p.Glu800Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, multiple submitters, no conflicts|17","1069088|NM_001042492.3(NF1):c.2111del (p.Leu704fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1069148|NM_001042492.3(NF1):c.5246_5247del (p.Lys1749fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1069219|NM_001042492.3(NF1):c.3602T>A (p.Leu1201Ter)|single nucleotide variant|Pathogenic|NF1|criteria provided, single submitter|17","1069240|NM_001042492.3(NF1):c.6593del (p.Ala2198fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1069302|NM_001042492.3(NF1):c.7173_7174del (p.Gly2392fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17","1069318|NM_001042492.3(NF1):c.3604_3607dup (p.Asp1203delinsGlyTer)|Duplication|Pathogenic|NF1|criteria provided, single submitter|17","1069442|NM_001042492.3(NF1):c.3940del (p.Trp1314fs)|Deletion|Pathogenic|NF1|criteria provided, single submitter|17"]}]}