{"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:4177,10,HGNC:4177,123,2]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:4177","source":"HGNC:4177|glucosylceramidase beta 1","targets":["1012742|NM_000157.4(GBA1):c.199C>G (p.Pro67Ala)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1028106|NM_000157.4(GBA1):c.145G>A (p.Gly49Ser)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, multiple submitters, no conflicts|1","1065557|NM_000157.4(GBA1):c.914C>T (p.Pro305Leu)|single nucleotide variant|Likely pathogenic|GBA1|criteria provided, single submitter|1","1081002|NM_000157.4(GBA1):c.1281A>G (p.Glu427=)|single nucleotide variant|Likely benign|GBA1|criteria provided, single submitter|1","1119997|NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)|single nucleotide variant|Pathogenic/Likely pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","1131714|NM_000157.4(GBA1):c.1272G>C (p.Leu424=)|single nucleotide variant|Likely benign|GBA1|criteria provided, single submitter|1","1139373|NM_000157.4(GBA1):c.1278C>T (p.Pro426=)|single nucleotide variant|Likely benign|GBA1|criteria provided, single submitter|1","1144024|NM_000157.4(GBA1):c.1293T>C (p.Asn431=)|single nucleotide variant|Likely benign|GBA1|criteria provided, single submitter|1","1146878|NM_000157.4(GBA1):c.1302T>C (p.Arg434=)|single nucleotide variant|Likely benign|GBA1|criteria provided, single submitter|1","1153308|NM_000157.4(GBA1):c.1314C>T (p.Asp438=)|single nucleotide variant|Likely benign|GBA1|criteria provided, single submitter|1","1162851|NM_000157.4(GBA1):c.593C>T (p.Pro198Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","1174629|NM_000157.4(GBA1):c.1475A>T (p.Asp492Val)|single nucleotide variant|Uncertain significance|GBA1|no assertion criteria provided|1","1175004|NM_000157.4(GBA1):c.1474G>C (p.Asp492His)|single nucleotide variant|Uncertain significance|GBA1|no assertion criteria provided|1","1176206|NM_000157.4(GBA1):c.850C>T (p.Pro284Ser)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1177278|NM_000157.4(GBA1):c.1506-12C>T|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","1184271|NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)|single nucleotide variant|Likely pathogenic|GBA1|criteria provided, single submitter|1","1199281|NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, multiple submitters, no conflicts|1","1199309|NM_000157.4(GBA1):c.1455A>G (p.Ala485=)|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","1210413|NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, multiple submitters, no conflicts|1","1210414|NM_000157.4(GBA1):c.898G>A (p.Ala300Thr)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1210415|NM_000157.4(GBA1):c.1474G>A (p.Asp492Asn)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, multiple submitters, no conflicts|1","1211295|NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)|single nucleotide variant|Pathogenic/Likely pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","1214070|NM_000157.4(GBA1):c.518C>A (p.Thr173Asn)|single nucleotide variant|Likely pathogenic|GBA1|criteria provided, single submitter|1","1302744|NM_000157.4(GBA1):c.1000G>A (p.Val334Ile)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1303174|NM_000157.4(GBA1):c.644C>A (p.Ala215Asp)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1303549|NM_000157.4(GBA1):c.901C>T (p.Arg301Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","1304539|NM_000157.4(GBA1):c.849C>A (p.Tyr283Ter)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1308050|NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, multiple submitters, no conflicts|1","1309398|NM_000157.4(GBA1):c.1489G>C (p.Val497Leu)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1311272|NM_000157.4(GBA1):c.10T>C (p.Ser4Pro)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, multiple submitters, no conflicts|1","1319931|NM_000157.4(GBA1):c.1312G>C (p.Asp438His)|single nucleotide variant|Likely pathogenic|GBA1|no assertion criteria provided|1","1321421|NM_000157.4(GBA1):c.256C>T (p.Arg86Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","1321450|NM_000157.4(GBA1):c.203del (p.Pro68fs)|Deletion|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","1322983|NM_000157.4(GBA1):c.1606C>T (p.Gln536Ter)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1322984|NM_000157.4(GBA1):c.1388+1G>A|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","1322986|NM_000157.4(GBA1):c.408_412del (p.Pro137fs)|Deletion|Pathogenic/Likely pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","1330880|NM_000157.4(GBA1):c.355G>C (p.Gly119Arg)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1331501|NM_000157.4(GBA1):c.1275C>A (p.Asn425Lys)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1333747|NM_000157.4(GBA1):c.1586A>G (p.His529Arg)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1333748|NM_000157.4(GBA1):c.695G>A (p.Gly232Glu)|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","1339116|NM_000157.4(GBA1):c.492C>G (p.Ser164Arg)|single nucleotide variant|Likely pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","1342868|NM_000157.4(GBA1):c.1265_1320del (p.Leu422fs)|Deletion|Pathogenic|GBA1|criteria provided, single submitter|1","1596677|NM_000157.4(GBA1):c.1290C>T (p.Pro430=)|single nucleotide variant|Likely benign|GBA1|criteria provided, single submitter|1","1598341|NM_000157.4(GBA1):c.1305C>T (p.Asn435=)|single nucleotide variant|Likely benign|GBA1|criteria provided, single submitter|1","1622253|NM_000157.4(GBA1):c.1311C>T (p.Val437=)|single nucleotide variant|Likely benign|GBA1|criteria provided, single submitter|1","167132|NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg)|Indel|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","1675378|NM_000157.4(GBA1):c.761+4A>G|single nucleotide variant|Likely pathogenic|GBA1|criteria provided, single submitter|1","1677224|NM_000157.4(GBA1):c.1439_1445del (p.Lys480fs)|Deletion|Pathogenic|GBA1|criteria provided, single submitter|1","1678026|NM_000157.4(GBA1):c.376_377del (p.Asp126fs)|Deletion|Likely pathogenic|GBA1|criteria provided, single submitter|1","1678338|NM_000157.4(GBA1):c.1225-3T>C|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","1678405|NM_000157.4(GBA1):c.1225-14T>C|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1678838|NM_000157.4(GBA1):c.546G>A (p.Gln182=)|single nucleotide variant|Likely benign|GBA1|criteria provided, multiple submitters, no conflicts|1","1683270|NM_000157.4(GBA1):c.454+1G>A|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","1691424|NM_000157.4(GBA1):c.314T>C (p.Leu105Pro)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1691430|NM_000157.4(GBA1):c.1537G>A (p.Asp513Asn)|single nucleotide variant|Likely pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","1691434|NM_000157.4(GBA1):c.816A>C (p.Glu272Asp)|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","1698486|NM_000157.4(GBA1):c.898del (p.Ala300fs)|Deletion|Pathogenic|GBA1|criteria provided, single submitter|1","1698566|NM_000157.4(GBA1):c.1505+2T>A|single nucleotide variant|Likely pathogenic|GBA1|criteria provided, single submitter|1","1700273|NM_000157.4(GBA1):c.1355A>G (p.Lys452Arg)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1701111|NM_000157.4(GBA1):c.1006A>T (p.Thr336Ser)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1705113|NM_001005741.3(GBA1):c.-68-82A>G|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1711226|NM_000157.4(GBA1):c.964G>A (p.Asp322Asn)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1711227|NM_000157.4(GBA1):c.82T>C (p.Leu28=)|single nucleotide variant|Likely benign|GBA1|criteria provided, multiple submitters, no conflicts|1","1711250|GRCh37/hg19 1q22(chr1:155204786-155205635)x1|copy number loss|Likely pathogenic|GBA1|criteria provided, single submitter|1","1722541|NM_000157.4(GBA1):c.1361C>T (p.Pro454Leu)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","1799687|NM_000157.4(GBA1):c.1214G>A (p.Ser405Asn)|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","1799703|NM_000157.4(GBA1):c.517A>G (p.Thr173Ala)|single nucleotide variant|Likely pathogenic|GBA1|criteria provided, single submitter|1","1799756|NM_000157.4(GBA1):c.236_237del (p.Arg78_Tyr79insTer)|Deletion|Pathogenic|GBA1|criteria provided, single submitter|1","1799843|NM_000157.4(GBA1):c.1072C>T (p.Pro358Ser)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1799848|NM_000157.4(GBA1):c.28-12T>G|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","1799861|NM_000157.4(GBA1):c.364G>C (p.Gly122Arg)|single nucleotide variant|Likely pathogenic|GBA1|criteria provided, single submitter|1","1800141|NM_000157.4(GBA1):c.152G>T (p.Ser51Ile)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, multiple submitters, no conflicts|1","1800198|NM_000157.4(GBA1):c.845G>A (p.Gly282Glu)|single nucleotide variant|Likely pathogenic|GBA1|criteria provided, single submitter|1","1804121|NC_000001.10:g.155183259_(155210558_155210826)del|Deletion|Likely pathogenic|GBA1|criteria provided, single submitter|","1809693|NM_000157.4(GBA1):c.*92G>A|single nucleotide variant|Likely benign|GBA1|criteria provided, single submitter|1","193611|NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)|Deletion|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","193827|NM_000157.4(GBA1):c.1431C>G (p.Ala477=)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","193828|NM_000157.4(GBA1):c.1505+10A>T|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","196296|NM_000157.4(GBA1):c.38A>G (p.Lys13Arg)|single nucleotide variant|Benign|GBA1|criteria provided, multiple submitters, no conflicts|1","197701|NM_000157.4(GBA1):c.431T>G (p.Leu144Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","197702|NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","198110|NM_000157.4(GBA1):c.485T>C (p.Met162Thr)|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","198756|NM_000157.4(GBA1):c.762-18T>A|single nucleotide variant|Benign/Likely benign|GBA1|criteria provided, multiple submitters, no conflicts|1","198757|NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)|single nucleotide variant|Likely pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","199044|NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)|single nucleotide variant|Conflicting classifications of pathogenicity; risk factor|GBA1|criteria provided, conflicting classifications|1","199045|NM_000157.4(GBA1):c.1030G>A (p.Val344Ile)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","209102|NM_000157.4(GBA1):c.221G>C (p.Gly74Ala)|single nucleotide variant|Uncertain significance|GBA1|no assertion criteria provided|1","209103|NM_000157.4(GBA1):c.1440G>C (p.Lys480Asn)|single nucleotide variant|Uncertain significance|GBA1|no assertion criteria provided|1","209104|NM_000157.4(GBA1):c.1277C>T (p.Pro426Leu)|single nucleotide variant|Uncertain significance|GBA1|no assertion criteria provided|1","21070|NM_000157.4(GBA1):c.1505G>A (p.Arg502His)|single nucleotide variant|Pathogenic/Likely pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","21072|NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)|single nucleotide variant|Pathogenic/Likely pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","212789|NM_000157.4(GBA1):c.1220T>C (p.Ile407Thr)|single nucleotide variant|Uncertain significance|GBA1|no assertion criteria provided|1","2205183|NM_000157.4(GBA1):c.474C>G (p.Ile158Met)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","2227653|NM_000157.4(GBA1):c.44T>C (p.Leu15Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","2227654|NM_000157.4(GBA1):c.46A>G (p.Ser16Gly)|single nucleotide variant|Likely benign|GBA1|criteria provided, single submitter|1","2252580|NM_000157.4(GBA1):c.124C>T (p.Pro42Ser)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","225285|NM_000157.4(GBA1):c.474C>T (p.Ile158=)|single nucleotide variant|Conflicting classifications of pathogenicity|GBA1|criteria provided, conflicting classifications|1","2263732|NM_000157.4(GBA1):c.677C>G (p.Thr226Ser)|single nucleotide variant|Uncertain significance|GBA1|criteria provided, single submitter|1","236399|NM_000157.4(GBA1):c.415G>C (p.Ala139Pro)|single nucleotide variant|Likely pathogenic|GBA1|no assertion criteria provided|1","236400|NM_000157.4(GBA1):c.1177C>G (p.Leu393Val)|single nucleotide variant|Likely pathogenic|GBA1|no assertion criteria provided|1"]}]}