{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":73,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:4177","source":"HGNC:4177|glucosylceramidase beta 1","targets":["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","1322984|NM_000157.4(GBA1):c.1388+1G>A|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","1342868|NM_000157.4(GBA1):c.1265_1320del (p.Leu422fs)|Deletion|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","1698486|NM_000157.4(GBA1):c.898del (p.Ala300fs)|Deletion|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","1799756|NM_000157.4(GBA1):c.236_237del (p.Arg78_Tyr79insTer)|Deletion|Pathogenic|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","242383|NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","2436490|NM_000157.4(GBA1):c.1260G>A (p.Trp420Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","2503944|NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","2578609|GRCh37/hg19 1q22(chr1:155207925-155210903)x1|copy number loss|Pathogenic|GBA1|criteria provided, single submitter|1","2579610|NM_000157.4(GBA1):c.1505+2T>C|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","2581173|NM_000157.4(GBA1):c.1054T>C (p.Tyr352His)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","281586|NM_000157.4(GBA1):c.580A>T (p.Lys194Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","3064209|NM_000157.4(GBA1):c.820G>A (p.Glu274Lys)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","3251365|NM_000157.4(GBA1):c.680A>T (p.Asn227Ile)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","3257292|NM_000157.4(GBA1):c.1193G>T (p.Arg398Leu)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","3383198|NM_000157.4(GBA1):c.622C>T (p.Gln208Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","3383384|NM_000157.4(GBA1):c.160G>A (p.Val54Met)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","3385311|NM_000157.4(GBA1):c.1193G>C (p.Arg398Pro)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","3769167|NM_000157.4(GBA1):c.702dup (p.Ser235fs)|Duplication|Pathogenic|GBA1|criteria provided, single submitter|1","4068448|NM_000157.4(GBA1):c.762-1G>T|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4079277|NM_000157.4(GBA1):c.245C>T (p.Thr82Ile)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","4289|NM_000157.4(GBA1):c.1361C>G (p.Pro454Arg)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4295|NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","4296|NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","4302|NM_000157.4(GBA1):c.84dup (p.Leu29fs)|Duplication|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","4305|NM_000157.4(GBA1):c.983C>T (p.Pro328Leu)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4307|NM_000157.4(GBA1):c.73del (p.Leu25fs)|Deletion|Pathogenic|GBA1|no assertion criteria provided|1","4308|NM_000157.4(GBA1):c.481C>T (p.Pro161Ser)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4313|NM_000157.4(GBA1):c.160G>T (p.Val54Leu)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4314|NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","4315|NM_000157.4(GBA1):c.763T>G (p.Phe255Val)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4317|NM_000157.4(GBA1):c.1053G>T (p.Trp351Cys)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4319|NM_000157.4(GBA1):c.1141T>G (p.Cys381Gly)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4321|NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","4323|NM_000157.4(GBA1):c.1174C>G (p.Arg392Gly)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4324|NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4326|NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","4328|NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","4331|NM_000157.4(GBA1):c.870C>A (p.Phe290Leu)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4332|NM_000157.4(GBA1):c.1228C>G (p.Leu410Val)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4333|NM_000157.4(GBA1):c.1506-1G>A|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","446213|NM_000157.4(GBA1):c.526G>A (p.Asp176Asn)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","4537286|NM_000157.4(GBA1):c.1389-2A>G|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","4687966|NM_000157.4(GBA1):c.745del (p.Ala249fs)|Deletion|Pathogenic|GBA1|criteria provided, single submitter|1","496079|NM_000157.4(GBA1):c.1029del (p.Lys342_Tyr343insTer)|Deletion|Pathogenic|GBA1|criteria provided, single submitter|1","496081|NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","496084|NM_000157.4(GBA1):c.630del (p.Val211fs)|Deletion|Pathogenic|GBA1|criteria provided, single submitter|1","496800|NM_000157.4(GBA1):c.1348T>A (p.Phe450Ile)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","558787|NM_000157.4(GBA1):c.886C>T (p.Arg296Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","558788|NM_000157.4(GBA1):c.701G>A (p.Gly234Glu)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","599275|NM_000157.4(GBA1):c.1294T>A (p.Trp432Arg)|single nucleotide variant|Pathogenic|GBA1|no assertion criteria provided|1","632834|NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","633241|NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","65570|NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","689500|NM_000157.4(GBA1):c.999+242C>A|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","813310|GRCh37/hg19 1q22(chr1:155188179-155209868)|copy number loss|Pathogenic|GBA1|criteria provided, single submitter|1","869105|NM_000157.4(GBA1):c.557del (p.Phe186fs)|Deletion|Pathogenic|GBA1|no assertion criteria provided|1","917862|NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","918140|NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","918141|NM_000157.4(GBA1):c.1259G>A (p.Trp420Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","928835|NM_000157.4(GBA1):c.689T>G (p.Val230Gly)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","931820|NM_000157.4(GBA1):c.1289C>T (p.Pro430Leu)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","932298|NM_000157.4(GBA1):c.403_404del (p.Leu135fs)|Deletion|Pathogenic|GBA1|no assertion criteria provided|1","93452|NM_000157.4(GBA1):c.487del (p.Ala163fs)|Deletion|Pathogenic|GBA1|criteria provided, single submitter|1","93453|NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","93459|NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1","974986|NM_000157.4(GBA1):c.108G>A (p.Trp36Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","984479|NM_000157.4(GBA1):c.334C>T (p.Gln112Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, single submitter|1","996254|NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)|single nucleotide variant|Pathogenic|GBA1|criteria provided, multiple submitters, no conflicts|1"]}]}