{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Likely pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":39,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:8975","source":"HGNC:8975|phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","targets":["1333708|NM_006218.4(PIK3CA):c.3127A>C (p.Met1043Leu)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","13654|NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","13658|NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs)|Duplication|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","1511013|NM_006218.4(PIK3CA):c.3145G>T (p.Gly1049Cys)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","1691323|NM_006218.4(PIK3CA):c.32_52del (p.Trp11_Pro18delinsSer)|Deletion|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","1804027|NM_006218.4(PIK3CA):c.2173G>A (p.Asp725Asn)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","2505160|NM_006218.4(PIK3CA):c.2702G>T (p.Cys901Phe)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","2633421|NM_006218.4(PIK3CA):c.3074C>A (p.Thr1025Asn)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","3065356|NM_006218.4(PIK3CA):c.813+2T>C|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","3233413|NM_006218.4(PIK3CA):c.3196_3203del (p.Ala1066fs)|Deletion|Likely pathogenic|PIK3CA|no assertion criteria provided|3","3233414|NM_006218.4(PIK3CA):c.323_337del (p.Arg108_Ile112del)|Deletion|Likely pathogenic|PIK3CA|no assertion criteria provided|3","3238639|NM_006218.4(PIK3CA):c.1358_1361delinsG (p.Glu453_Asp454delinsGly)|Indel|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","3258061|NM_006218.4(PIK3CA):c.115G>A (p.Glu39Lys)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","3340439|NM_006218.4(PIK3CA):c.1345_1356del (p.Pro449_Leu452del)|Deletion|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","3359019|NM_006218.4(PIK3CA):c.316G>T (p.Gly106Cys)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","372875|NM_006218.4(PIK3CA):c.1259_1261dup (p.Cys420_Pro421insArg)|Duplication|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","376243|NM_006218.4(PIK3CA):c.1616C>G (p.Pro539Arg)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","376475|NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","376492|NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","376497|NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly)|single nucleotide variant|Likely pathogenic|PIK3CA|no assertion criteria provided|3","3774496|NM_006218.4(PIK3CA):c.1037T>G (p.Val346Gly)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","3774497|NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","3774504|NM_006218.4(PIK3CA):c.1353_1367del (p.Leu452_Leu456del)|Deletion|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","3774505|NM_006218.4(PIK3CA):c.1348_1374del (p.His450_Pro458del)|Deletion|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","3774530|NM_006218.4(PIK3CA):c.1637_1638inv (p.Gln546Pro)|Inversion|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","3775875|NM_006218.4(PIK3CA):c.333G>T (p.Lys111Asn)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","3897716|NM_006218.4(PIK3CA):c.322C>T (p.Arg108Cys)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","421698|NM_006218.4(PIK3CA):c.2758A>G (p.Asn920Asp)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","4279975|NM_006218.4(PIK3CA):c.315_323del (p.Gly106_Arg108del)|Deletion|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","4291761|NM_006218.4(PIK3CA):c.819A>G (p.Ile273Met)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","4292889|NM_006218.4(PIK3CA):c.3155C>A (p.Thr1052Lys)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","45465|NM_006218.4(PIK3CA):c.1359_1373del (p.Glu453_Pro458delinsAsp)|Deletion|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","495324|NM_006218.4(PIK3CA):c.3074C>G (p.Thr1025Ser)|single nucleotide variant|Likely pathogenic|PIK3CA|no assertion criteria provided|3","498669|NM_006218.4(PIK3CA):c.311_322del (p.Pro104_Asn107del)|Deletion|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","587630|NM_006218.4(PIK3CA):c.407dup (p.Gln137fs)|Duplication|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","802030|NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp)|single nucleotide variant|Likely pathogenic|PIK3CA|criteria provided, single submitter|3","873163|NM_006218.4(PIK3CA):c.452T>C (p.Val151Ala)|single nucleotide variant|Likely pathogenic|PIK3CA|no assertion criteria provided|3","988765|NM_006218.4(PIK3CA):c.2075del (p.Cys692fs)|Deletion|Likely pathogenic|PIK3CA|no assertion criteria provided|3","995382|NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)|Microsatellite|Likely pathogenic|PIK3CA|reviewed by expert panel|3"]}]}