{"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:12687,10,HGNC:12687,188,7]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:12687","source":"HGNC:12687|von Hippel-Lindau tumor suppressor","targets":["1071196|NM_000551.4(VHL):c.244_259dup (p.Val87fs)|Duplication|Pathogenic|VHL|criteria provided, single submitter|3","1072069|NM_000551.4(VHL):c.241_244dup (p.Arg82fs)|Duplication|Pathogenic|VHL|criteria provided, single submitter|3","1073436|NC_000003.11:g.(?_10183532)_(10188330_?)del|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","1076108|NM_000551.4(VHL):c.298del (p.Thr100fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","1297059|NM_000551.4(VHL):c.244C>G (p.Arg82Gly)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","1426858|NM_000551.4(VHL):c.193T>A (p.Ser65Thr)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","1448469|NM_000551.4(VHL):c.314dup (p.Arg107fs)|Duplication|Pathogenic|VHL|criteria provided, single submitter|3","1452589|NC_000003.11:g.(?_10183579)_(10185909_?)del|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","1780385|NM_000551.4(VHL):c.180_193del (p.Pro61fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","1782641|NM_000551.4(VHL):c.191dup (p.Ser65fs)|Duplication|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","1785035|NM_000551.4(VHL):c.204dup (p.Arg69fs)|Duplication|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","1785370|NM_000551.4(VHL):c.207_208dup (p.Glu70fs)|Microsatellite|Pathogenic|VHL|criteria provided, single submitter|3","1786236|NM_000551.4(VHL):c.212_213dup (p.Ser72fs)|Duplication|Pathogenic|VHL|criteria provided, single submitter|3","1792371|NM_000551.4(VHL):c.250del (p.Val84fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","1793789|NM_000551.4(VHL):c.261_262dup (p.Trp88fs)|Duplication|Pathogenic|VHL|criteria provided, single submitter|3","182975|NM_000551.4(VHL):c.194C>T (p.Ser65Leu)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","182977|NM_000551.4(VHL):c.257C>T (p.Pro86Leu)|single nucleotide variant|Pathogenic|VHL|reviewed by expert panel|3","182978|NM_000551.4(VHL):c.263G>A (p.Trp88Ter)|single nucleotide variant|Pathogenic|VHL|reviewed by expert panel|3","182986|NM_000551.4(VHL):c.180del (p.Val62fs)|Deletion|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","182988|NM_000551.4(VHL):c.219_220del (p.Gln73fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","193118|NM_000551.4(VHL):c.245G>C (p.Arg82Pro)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","1999272|NM_000551.4(VHL):c.329dup (p.His110fs)|Duplication|Pathogenic|VHL|criteria provided, single submitter|3","2028206|NM_000551.4(VHL):c.231C>A (p.Cys77Ter)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","2085211|NM_000551.4(VHL):c.184del (p.Val62fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","2128789|NM_000551.4(VHL):c.189_193dup (p.Ser65fs)|Duplication|Pathogenic|VHL|criteria provided, single submitter|3","2203305|NM_000551.4(VHL):c.330_331delinsTT (p.Ser111Cys)|Indel|Pathogenic|VHL|criteria provided, single submitter|3","220414|NM_000551.4(VHL):c.337C>T (p.Arg113Ter)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","220487|NM_000551.4(VHL):c.258del (p.Val87fs)|Deletion|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","2214|NM_000551.4(VHL):c.223_225del (p.Ile75del)|Deletion|Pathogenic|VHL|no assertion criteria provided|3","2220|NM_000551.4(VHL):c.263G>C (p.Trp88Ser)|single nucleotide variant|Pathogenic|VHL|no assertion criteria provided|3","2223|NM_000551.4(VHL):c.292T>C (p.Tyr98His)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","2226|NM_000551.4(VHL):c.191G>C (p.Arg64Pro)|single nucleotide variant|Pathogenic|VHL|reviewed by expert panel|3","2228|NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223159|NM_000551.4(VHL):c.163dup (p.Glu55fs)|Duplication|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223161|NM_000551.4(VHL):c.194C>A (p.Ser65Ter)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223162|NM_000551.4(VHL):c.203C>A (p.Ser68Ter)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223164|NM_000551.4(VHL):c.217C>T (p.Gln73Ter)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223165|NM_000551.4(VHL):c.221del (p.Val74fs)|Deletion|Pathogenic|VHL|no assertion criteria provided|3","223168|NM_000551.4(VHL):c.233A>C (p.Asn78Thr)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223173|NM_000551.4(VHL):c.269del (p.Asn90fs)|Deletion|Pathogenic|VHL|no assertion criteria provided|3","223175|NM_000551.4(VHL):c.277G>T (p.Gly93Cys)|single nucleotide variant|Pathogenic|VHL|no assertion criteria provided|3","223176|NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223177|NM_000551.4(VHL):c.293dup (p.Tyr98Ter)|Duplication|Pathogenic|VHL|no assertion criteria provided|3","223178|NM_000551.4(VHL):c.296dup (p.Thr100fs)|Duplication|Pathogenic|VHL|no assertion criteria provided|3","223179|NM_000551.4(VHL):c.300dup (p.Leu101fs)|Duplication|Pathogenic|VHL|no assertion criteria provided|3","223180|NM_000551.4(VHL):c.309del (p.Gly104fs)|Deletion|Pathogenic|VHL|no assertion criteria provided|3","223181|NM_000551.4(VHL):c.309dup (p.Gly104fs)|Duplication|Pathogenic|VHL|no assertion criteria provided|3","223184|NM_000551.4(VHL):c.320G>A (p.Arg107His)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223186|NM_000551.4(VHL):c.332G>A (p.Ser111Asn)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223187|NM_000551.4(VHL):c.333C>G (p.Ser111Arg)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223190|NM_000551.4(VHL):c.340+1G>A|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223191|NM_000551.4(VHL):c.340+2_340+6del|Deletion|Pathogenic|VHL|no assertion criteria provided|3","223193|NM_000551.4(VHL):c.340G>C (p.Gly114Arg)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","223202|NM_000551.4(VHL):c.374_375del (p.His125fs)|Microsatellite|Pathogenic|VHL|criteria provided, single submitter|3","223205|NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer)|Deletion|Pathogenic|VHL|no assertion criteria provided|3","2236|NM_000551.4(VHL):c.250G>T (p.Val84Leu)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","2237|NM_000551.4(VHL):c.277G>A (p.Gly93Ser)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","229860|NM_000551.4(VHL):c.250G>C (p.Val84Leu)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","2573291|NM_000551.4(VHL):c.213del (p.Ser72fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","2627292|NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","2673948|NM_000551.4(VHL):c.331A>C (p.Ser111Arg)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","2674005|NM_000551.4(VHL):c.259_260del (p.Val87fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","2674430|NM_000551.4(VHL):c.170_177del (p.Gly57fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","280053|NM_000551.4(VHL):c.164_171dup (p.Arg60fs)|Duplication|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","2922021|NM_000551.4(VHL):c.182_183del (p.Pro61fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","2925342|NM_000551.4(VHL):c.202T>C (p.Ser68Pro)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","2940951|NM_000551.4(VHL):c.291_292delinsAC (p.Tyr98His)|Indel|Pathogenic|VHL|criteria provided, single submitter|3","2942065|NM_000551.4(VHL):c.319C>A (p.Arg107Ser)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","2943402|NM_000551.4(VHL):c.305dup (p.Pro103fs)|Duplication|Pathogenic|VHL|criteria provided, single submitter|3","2945027|NM_000551.4(VHL):c.340+2T>G|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","2948152|NM_000551.4(VHL):c.310_311insC (p.Gly104fs)|Insertion|Pathogenic|VHL|criteria provided, single submitter|3","3148656|NM_000551.4(VHL):c.179_182del (p.Arg60fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","3232217|NM_000551.4(VHL):c.246dup (p.Val83fs)|Duplication|Pathogenic|VHL|criteria provided, single submitter|3","3246835|NC_000003.11:g.(?_10184445)_(10188340_?)del|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","3246836|NC_000003.12:g.(?_10146504)_(10150035_?)del|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","3246839|NC_000003.11:g.(?_10180443)_(10183830_?)del|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","3383006|NM_000551.4(VHL):c.314del (p.Thr105fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","3754754|NM_000551.4(VHL):c.210_211insA (p.Pro71fs)|Insertion|Pathogenic|VHL|criteria provided, single submitter|3","3757968|NM_000551.4(VHL):c.216_217delinsAT (p.Gln73Ter)|Indel|Pathogenic|VHL|criteria provided, single submitter|3","3759978|NM_000551.4(VHL):c.285_308del (p.Gln96_Pro103del)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","4086019|GRCh37/hg19 3p25.3(chr3:10190384-10195592)x1|copy number loss|Pathogenic|VHL|criteria provided, single submitter|3","411961|NM_000551.4(VHL):c.226_227del (p.Phe76fs)|Deletion|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","417616|NC_000003.12:g.(?_10141635)_(10142187_?)del|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","4198749|NM_000551.4(VHL):c.209dup (p.Pro71fs)|Duplication|Pathogenic|VHL|criteria provided, single submitter|3","428800|NM_000551.4(VHL):c.163del (p.Glu55fs)|Deletion|Pathogenic|VHL|criteria provided, single submitter|3","428804|NM_000551.4(VHL):c.286C>T (p.Gln96Ter)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","428806|NM_000551.4(VHL):c.208G>T (p.Glu70Ter)|single nucleotide variant|Pathogenic|VHL|reviewed by expert panel|3","428811|NM_000551.4(VHL):c.278del (p.Gly93fs)|Deletion|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","43597|NM_000551.4(VHL):c.194C>G (p.Ser65Trp)|single nucleotide variant|Pathogenic|VHL|reviewed by expert panel|3","4538538|NM_000551.4(VHL):c.340+1G>T|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","456577|NM_000551.4(VHL):c.262T>A (p.Trp88Arg)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","478820|NM_000551.4(VHL):c.206dup (p.Glu70fs)|Duplication|Pathogenic|VHL|no assertion criteria provided|3","496052|NM_000551.4(VHL):c.238A>C (p.Ser80Arg)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","496053|NM_000551.4(VHL):c.262T>C (p.Trp88Arg)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","496055|NM_000551.4(VHL):c.313A>C (p.Thr105Pro)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","547829|NM_000551.4(VHL):c.193T>C (p.Ser65Pro)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","560741|NM_000551.4(VHL):c.329del (p.His110fs)|Deletion|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3","565557|NM_000551.4(VHL):c.331A>T (p.Ser111Cys)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","580847|NM_000551.4(VHL):c.264G>C (p.Trp88Cys)|single nucleotide variant|Pathogenic|VHL|criteria provided, single submitter|3","583094|NM_000551.4(VHL):c.340G>A (p.Gly114Ser)|single nucleotide variant|Pathogenic|VHL|criteria provided, multiple submitters, no conflicts|3"]}]}