{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":63,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:3236","source":"HGNC:3236|epidermal growth factor receptor","targets":["1005727|NM_005228.5(EGFR):c.1605C>A (p.Cys535Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","1016241|NM_005228.5(EGFR):c.2917C>T (p.Arg973Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","1016463|NM_005228.5(EGFR):c.1536del (p.Glu513fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","1023925|NM_005228.5(EGFR):c.2545C>T (p.Gln849Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","1042058|NC_000007.13:g.(?_55086755)_(55274084_?)del|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","1043841|NM_005228.5(EGFR):c.2577del (p.Lys860fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","1045120|NM_005228.5(EGFR):c.1418del (p.Asn473fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","1058215|NM_005228.5(EGFR):c.2650G>T (p.Glu884Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","1425739|NM_005228.5(EGFR):c.2921_2928del (p.Asp974fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","1429922|NM_005228.5(EGFR):c.877A>T (p.Lys293Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","1441678|NM_005228.5(EGFR):c.3061C>T (p.Gln1021Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","1444704|NM_005228.5(EGFR):c.2289del (p.Tyr764fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","1453945|NM_005228.5(EGFR):c.1860_1861delinsAA (p.Cys620_His621delinsTer)|Indel|Pathogenic|EGFR|criteria provided, single submitter|7","1456059|NC_000007.13:g.(?_55221694)_(55225456_?)del|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","1457850|NM_005228.5(EGFR):c.113del (p.Leu38fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","1459376|NM_005228.5(EGFR):c.763C>T (p.Arg255Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","1508578|NM_005228.5(EGFR):c.2720T>A (p.Leu907Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","157499|NM_005228.5(EGFR):c.1283G>A (p.Gly428Asp)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","177620|NM_005228.5(EGFR):c.2236_2250del (p.Glu746_Ala750del)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","2032844|NM_005228.5(EGFR):c.492_511del (p.Trp164_Asp171delinsTer)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","2115063|NM_005228.5(EGFR):c.977_978del (p.Lys325_Cys326insTer)|Microsatellite|Pathogenic|EGFR|criteria provided, single submitter|7","2129131|NM_005228.5(EGFR):c.2927del (p.Gln976fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","2425326|NC_000007.13:g.(?_55223561)_(55233842_?)del|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","254143|NM_005228.5(EGFR):c.977G>T (p.Cys326Phe)|single nucleotide variant|Pathogenic|EGFR|no assertion criteria provided|7","2578363|NM_005228.5(EGFR):c.2317delinsAACCCCT (p.His773delinsAsnProTyr)|Indel|Pathogenic|EGFR|criteria provided, single submitter|7","2582257|NM_005228.5(EGFR):c.1792G>A (p.Gly598Arg)|single nucleotide variant|Pathogenic|EGFR|no assertion criteria provided|7","2582258|NM_005228.5(EGFR):c.2561C>T (p.Thr854Ile)|single nucleotide variant|Pathogenic|EGFR|no assertion criteria provided|7","2582280|NM_005228.5(EGFR):c.1786C>T (p.Pro596Ser)|single nucleotide variant|Pathogenic|EGFR|no assertion criteria provided|7","2582281|NM_005228.5(EGFR):c.2287G>A (p.Ala763Thr)|single nucleotide variant|Pathogenic|EGFR|no assertion criteria provided|7","2695031|NM_005228.5(EGFR):c.2090_2091dup (p.Ala698fs)|Duplication|Pathogenic|EGFR|criteria provided, single submitter|7","2700802|NM_005228.5(EGFR):c.213_228del (p.Gln71fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","2701755|NM_005228.5(EGFR):c.357_361del (p.Leu119fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","2708436|NM_005228.5(EGFR):c.2956_2959del (p.Arg986fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","2746255|NM_005228.5(EGFR):c.2005C>T (p.Arg669Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","2757002|NM_005228.5(EGFR):c.2852G>A (p.Trp951Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","2812743|NM_005228.5(EGFR):c.132del (p.Phe44fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","2819404|NM_005228.5(EGFR):c.1103del (p.Asp368fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","2820973|NM_005228.5(EGFR):c.889del (p.Arg297fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","2844629|NM_005228.5(EGFR):c.439del (p.Ala147fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","2866103|NM_005228.5(EGFR):c.879del (p.Lys294fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","2907450|NM_005228.5(EGFR):c.2371C>T (p.Gln791Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","3012073|NM_005228.5(EGFR):c.797dup (p.Leu267fs)|Duplication|Pathogenic|EGFR|criteria provided, single submitter|7","3245831|NC_000007.13:g.(?_55086755)_(55087068_?)del|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","3338124|NM_005228.5(EGFR):c.1094T>A (p.Ile365Asn)|single nucleotide variant|Pathogenic|EGFR|no assertion criteria provided|7","3630431|NM_005228.5(EGFR):c.2791G>T (p.Glu931Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","3639152|NM_005228.5(EGFR):c.1382del (p.Val461fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","3639224|NM_005228.5(EGFR):c.3212C>G (p.Ser1071Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","3644154|NM_005228.5(EGFR):c.1441_1444del (p.Phe481fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","3651305|NM_005228.5(EGFR):c.2451G>A (p.Trp817Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","3714966|NM_005228.5(EGFR):c.339C>G (p.Tyr113Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","3722497|NM_005228.5(EGFR):c.1309del (p.Ser437fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","3726208|NM_005228.5(EGFR):c.1430G>A (p.Trp477Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","3729636|NM_005228.5(EGFR):c.1643_1644del (p.Glu548fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","3729655|NM_005228.5(EGFR):c.1150_1160del (p.Thr384fs)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","45220|NM_005228.5(EGFR):c.2127_2129del (p.Glu709_Thr710delinsAsp)|Deletion|Pathogenic|EGFR|criteria provided, single submitter|7","45225|NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","45251|NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","45252|NM_005228.5(EGFR):c.2303_2304delinsTT (p.Ser768Ile)|Indel|Pathogenic|EGFR|criteria provided, single submitter|7","45257|NM_005228.5(EGFR):c.2310_2311insGGGTTG (p.Asp770_Asn771insGlyLeu)|Insertion|Pathogenic|EGFR|no assertion criteria provided|7","45279|NM_005228.5(EGFR):c.2500G>T (p.Val834Leu)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","638163|NM_005228.5(EGFR):c.2303_2305delinsTCT (p.Ser768_Val769delinsIleLeu)|Indel|Pathogenic|EGFR|criteria provided, single submitter|7","962242|NM_005228.5(EGFR):c.2745T>A (p.Tyr915Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7","971184|NM_005228.5(EGFR):c.3147C>A (p.Cys1049Ter)|single nucleotide variant|Pathogenic|EGFR|criteria provided, single submitter|7"]}]}