{"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:2505,10,HGNC:2505,61,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:2505","source":"HGNC:2505|cytotoxic T-lymphocyte associated protein 4","targets":["1002644|NM_005214.5(CTLA4):c.22C>T (p.Arg8Trp)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1014611|NM_005214.5(CTLA4):c.312G>A (p.Thr104=)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1015801|NM_005214.5(CTLA4):c.529dup (p.Tyr177fs)|Duplication|Conflicting classifications of pathogenicity|CTLA4|criteria provided, conflicting classifications|2","1029948|NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter)|single nucleotide variant|Pathogenic|CTLA4|criteria provided, multiple submitters, no conflicts|2","1035066|NM_005214.5(CTLA4):c.467C>T (p.Pro156Leu)|single nucleotide variant|Benign|CTLA4|reviewed by expert panel|2","1037921|NM_005214.5(CTLA4):c.567G>A (p.Met189Ile)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1044869|NM_005214.5(CTLA4):c.68C>T (p.Thr23Ile)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1055820|NM_005214.5(CTLA4):c.598G>T (p.Val200Phe)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1059071|NM_005214.5(CTLA4):c.397C>A (p.Leu133Ile)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1059615|NM_005214.5(CTLA4):c.626C>G (p.Pro209Arg)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1071971|NC_000002.11:g.(?_204731519)_(204732794_?)del|Deletion|Pathogenic|CTLA4|criteria provided, single submitter|2","1082699|NM_005214.5(CTLA4):c.42C>T (p.Asn14=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1082907|NM_005214.5(CTLA4):c.110-7A>G|single nucleotide variant|Benign|CTLA4|reviewed by expert panel|2","1084491|NM_005214.5(CTLA4):c.435C>T (p.Asn145=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1105012|NM_005214.5(CTLA4):c.30G>A (p.Lys10=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1107353|NM_005214.5(CTLA4):c.171G>A (p.Val57=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1143236|NM_005214.5(CTLA4):c.516G>A (p.Ser172=)|single nucleotide variant|Benign|CTLA4|reviewed by expert panel|2","1149425|NM_005214.5(CTLA4):c.457+12C>T|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1154997|NM_005214.5(CTLA4):c.159C>T (p.Ile53=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1166766|NM_005214.5(CTLA4):c.*375G>A|single nucleotide variant|Benign|CTLA4|criteria provided, single submitter|2","1166995|NC_000002.12:g.203866796C>T|single nucleotide variant|Benign|CTLA4|criteria provided, single submitter|2","1168343|NC_000002.12:g.203867624C>T|single nucleotide variant|Benign|CTLA4|criteria provided, multiple submitters, no conflicts|2","1176415|NM_005214.5(CTLA4):c.501T>C (p.Leu167=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, multiple submitters, no conflicts|2","1232853|NM_005214.5(CTLA4):c.109+76A>G|single nucleotide variant|Benign|CTLA4|reviewed by expert panel|2","1258268|NM_005214.5(CTLA4):c.457+154G>T|single nucleotide variant|Benign|CTLA4|reviewed by expert panel|2","1261285|NC_000002.12:g.203867500T>A|single nucleotide variant|Benign|CTLA4|criteria provided, single submitter|2","1307969|NM_005214.5(CTLA4):c.619A>G (p.Thr207Ala)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, multiple submitters, no conflicts|2","1312019|NM_005214.5(CTLA4):c.136G>A (p.Val46Ile)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1326454|NM_005214.5(CTLA4):c.496A>G (p.Ile166Val)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1337576|NM_005214.5(CTLA4):c.371C>T (p.Thr124Met)|single nucleotide variant|Likely benign|CTLA4|reviewed by expert panel|2","1348392|NM_005214.5(CTLA4):c.352G>A (p.Gly118Arg)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1358972|NM_005214.5(CTLA4):c.254G>A (p.Cys85Tyr)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1360957|NM_005214.5(CTLA4):c.463G>A (p.Glu155Lys)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1383567|NM_005214.5(CTLA4):c.522del (p.Leu174fs)|Deletion|Uncertain significance|CTLA4|criteria provided, single submitter|2","1391402|NM_005214.5(CTLA4):c.265T>C (p.Tyr89His)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, multiple submitters, no conflicts|2","1393552|NM_005214.5(CTLA4):c.137T>C (p.Val46Ala)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1394569|NM_005214.5(CTLA4):c.625C>G (p.Pro209Ala)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1414930|NM_005214.5(CTLA4):c.385T>A (p.Cys129Ser)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1418759|NM_005214.5(CTLA4):c.432C>T (p.Gly144=)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1420586|NM_005214.5(CTLA4):c.155G>T (p.Gly52Val)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1425050|NM_005214.5(CTLA4):c.482A>C (p.Asp161Ala)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1428023|NM_005214.5(CTLA4):c.596G>A (p.Gly199Glu)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1439020|NM_005214.5(CTLA4):c.71_72del (p.Leu24fs)|Microsatellite|Pathogenic|CTLA4|reviewed by expert panel|2","1439738|NM_005214.5(CTLA4):c.370A>T (p.Thr124Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|CTLA4|criteria provided, conflicting classifications|2","1445659|NM_005214.5(CTLA4):c.455T>C (p.Ile152Thr)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1449408|NM_005214.5(CTLA4):c.238C>T (p.Gln80Ter)|single nucleotide variant|Pathogenic|CTLA4|criteria provided, single submitter|2","1467277|NM_005214.5(CTLA4):c.110-3T>C|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1472488|NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser)|single nucleotide variant|Likely pathogenic|CTLA4|criteria provided, single submitter|2","1483087|NM_005214.5(CTLA4):c.141G>A (p.Leu47=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1487768|NM_005214.5(CTLA4):c.272T>G (p.Met91Arg)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1496303|NM_005214.5(CTLA4):c.97G>A (p.Val33Ile)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1507800|NM_005214.5(CTLA4):c.257C>G (p.Ala86Gly)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1545300|NM_005214.5(CTLA4):c.63C>T (p.Pro21=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1561952|NM_005214.5(CTLA4):c.345T>C (p.Thr115=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1574761|NM_005214.5(CTLA4):c.213G>C (p.Val71=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1576441|NM_005214.5(CTLA4):c.457+14T>C|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1585522|NM_005214.5(CTLA4):c.87C>T (p.Leu29=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1608668|NM_005214.5(CTLA4):c.417C>T (p.Tyr139=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","161109|NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)|single nucleotide variant|Pathogenic|CTLA4|reviewed by expert panel|2","161110|NM_005214.5(CTLA4):c.75del (p.Leu28fs)|Deletion|Pathogenic|CTLA4|reviewed by expert panel|2","161111|NM_005214.5(CTLA4):c.567+5G>C|single nucleotide variant|Pathogenic|CTLA4|no assertion criteria provided|2","161112|NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter)|single nucleotide variant|Pathogenic|CTLA4|reviewed by expert panel|2","161113|NM_005214.5(CTLA4):c.109+1G>T|single nucleotide variant|Likely pathogenic|CTLA4|criteria provided, single submitter|2","161114|NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp)|single nucleotide variant|Pathogenic/Likely pathogenic|CTLA4|criteria provided, multiple submitters, no conflicts|2","1613419|NM_005214.5(CTLA4):c.219G>C (p.Val73=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1642287|NM_005214.5(CTLA4):c.87C>G (p.Leu29=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1652750|NM_005214.5(CTLA4):c.421C>T (p.Leu141=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","16921|NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala)|single nucleotide variant|Benign|CTLA4|reviewed by expert panel|2","16922|NC_000002.12:g.203874196G>A|single nucleotide variant|Benign|CTLA4|reviewed by expert panel|2","1701406|NM_005214.5(CTLA4):c.366_367delinsAT (p.Met122_Asp123delinsIleTyr)|Indel|Uncertain significance|CTLA4|criteria provided, single submitter|2","1711524|NM_005214.5(CTLA4):c.407C>T (p.Pro136Leu)|single nucleotide variant|Likely pathogenic|CTLA4|reviewed by expert panel|2","1716663|NM_005214.5(CTLA4):c.238C>G (p.Gln80Glu)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1718934|NM_005214.5(CTLA4):c.143C>A (p.Ala48Asp)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","1801487|NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del)|Indel|Likely pathogenic|CTLA4|criteria provided, single submitter|2","187825|GRCh37/hg19 2q33.2-33.3(chr2:204032747-205890355)x1|copy number loss|Likely pathogenic|CTLA4|criteria provided, single submitter|2","1879517|NM_005214.5(CTLA4):c.171G>T (p.Val57=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1913423|NM_005214.5(CTLA4):c.390G>A (p.Lys130=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1938383|NM_005214.5(CTLA4):c.458-19G>A|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1957092|NM_005214.5(CTLA4):c.624G>A (p.Glu208=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","1992827|NM_005214.5(CTLA4):c.246T>C (p.Thr82=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","2000968|NM_005214.5(CTLA4):c.659T>C (p.Ile220Thr)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","2016051|NM_005214.5(CTLA4):c.506C>A (p.Ala169Glu)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","2018796|NM_005214.5(CTLA4):c.457G>T (p.Asp153Tyr)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","2022188|NM_005214.5(CTLA4):c.223C>A (p.Arg75=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","2050205|NM_005214.5(CTLA4):c.460C>A (p.Pro154Thr)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","2054311|NM_005214.5(CTLA4):c.304A>G (p.Ile102Val)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","2058334|NM_005214.5(CTLA4):c.110-16G>T|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","2068456|NM_005214.5(CTLA4):c.81T>C (p.Phe27=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","2073367|NM_005214.5(CTLA4):c.654T>C (p.Tyr218=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","2074380|NM_005214.5(CTLA4):c.344C>T (p.Thr115Ile)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","2092729|NM_005214.5(CTLA4):c.597G>T (p.Gly199=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","2095898|NM_005214.5(CTLA4):c.312G>C (p.Thr104=)|single nucleotide variant|Likely benign|CTLA4|criteria provided, single submitter|2","2097298|NM_005214.5(CTLA4):c.216dup (p.Val73fs)|Duplication|Pathogenic|CTLA4|criteria provided, single submitter|2","2109703|NM_005214.5(CTLA4):c.254G>C (p.Cys85Ser)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","2109704|NM_005214.5(CTLA4):c.263C>A (p.Thr88Asn)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","2118617|NM_005214.5(CTLA4):c.308G>A (p.Cys103Tyr)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, multiple submitters, no conflicts|2","2120347|NM_005214.5(CTLA4):c.568C>T (p.Leu190=)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","2128011|NM_005214.5(CTLA4):c.160G>C (p.Ala54Pro)|single nucleotide variant|Pathogenic|CTLA4|criteria provided, single submitter|2","2131328|NM_005214.5(CTLA4):c.50C>T (p.Thr17Ile)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, single submitter|2","2131343|NM_005214.5(CTLA4):c.430G>A (p.Gly144Ser)|single nucleotide variant|Uncertain significance|CTLA4|criteria provided, multiple submitters, no conflicts|2"]}]}