{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":52,"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":["1172583|NM_006218.4(PIK3CA):c.3104C>T (p.Ala1035Val)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, single submitter|3","1177432|NM_006218.4(PIK3CA):c.3202_3205delinsCTGATAACTGAGAAAATAACTGATAAAATGAAACTGA (p.Asn1068_Ter1069delinsLeuIleThrGluLysIleThrAspLysMetLysLeuArg)|Indel|Pathogenic|PIK3CA|no assertion criteria provided|3","13652|NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)|single nucleotide variant|Pathogenic|PIK3CA|reviewed by expert panel|3","13653|NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","13656|NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, single submitter|3","13657|NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","13659|NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","156446|NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","156447|NM_006218.4(PIK3CA):c.403G>A (p.Glu135Lys)|single nucleotide variant|Pathogenic|PIK3CA|no assertion criteria provided|3","156448|NM_006218.4(PIK3CA):c.652G>A (p.Glu218Lys)|single nucleotide variant|Pathogenic|PIK3CA|no assertion criteria provided|3","156449|NM_006218.4(PIK3CA):c.1066G>A (p.Val356Ile)|single nucleotide variant|Pathogenic|PIK3CA|no assertion criteria provided|3","156452|NM_006218.4(PIK3CA):c.1895T>G (p.Leu632Ter)|single nucleotide variant|Pathogenic|PIK3CA|no assertion criteria provided|3","1691324|NM_006218.4(PIK3CA):c.1342_1354del (p.Pro447_Val448insTer)|Deletion|Pathogenic|PIK3CA|criteria provided, single submitter|3","1691392|NM_006218.4(PIK3CA):c.1635_1636delinsTA (p.Glu545_Gln546delinsAspLys)|Indel|Pathogenic|PIK3CA|criteria provided, single submitter|3","217292|NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","217293|NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","218236|NM_006218.4(PIK3CA):c.335T>A (p.Ile112Asn)|single nucleotide variant|Pathogenic|PIK3CA|no assertion criteria provided|3","2580765|NM_006218.4(PIK3CA):c.1034A>G (p.Asn345Ser)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, single submitter|3","2582274|NM_006218.4(PIK3CA):c.3120G>A (p.Met1040Ile)|single nucleotide variant|Pathogenic|PIK3CA|no assertion criteria provided|3","2662642|NM_006218.4(PIK3CA):c.1798G>A (p.Glu600Lys)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, single submitter|3","2672088|NM_006218.4(PIK3CA):c.1632_1633delinsAA (p.Glu545Lys)|Indel|Pathogenic|PIK3CA|criteria provided, single submitter|3","31944|NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)|single nucleotide variant|Pathogenic|PIK3CA|reviewed by expert panel|3","31945|NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","376049|NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","376050|NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","376244|NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)|single nucleotide variant|Pathogenic|PIK3CA|no assertion criteria provided|3","376246|NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, single submitter|3","376247|NM_006218.4(PIK3CA):c.3145G>A (p.Gly1049Ser)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","376470|NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","376473|NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)|single nucleotide variant|Pathogenic|PIK3CA|no assertion criteria provided|3","376476|NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)|single nucleotide variant|Pathogenic|PIK3CA|reviewed by expert panel|3","376478|NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","376489|NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, single submitter|3","376498|NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","3777340|NM_006218.4(PIK3CA):c.3193C>T (p.His1065Tyr)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, single submitter|3","3778701|NM_006218.4(PIK3CA):c.3103G>A (p.Ala1035Thr)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, single submitter|3","39703|NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)|single nucleotide variant|Pathogenic|PIK3CA|reviewed by expert panel|3","39704|NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","39705|NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","39706|NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del)|Microsatellite|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","419128|NM_006218.4(PIK3CA):c.278G>A (p.Arg93Gln)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","419222|NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","419390|NM_006218.4(PIK3CA):c.3131A>G (p.Asn1044Ser)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","422905|NM_006218.4(PIK3CA):c.2646dup (p.Asp883fs)|Duplication|Pathogenic|PIK3CA|criteria provided, single submitter|3","45464|NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, single submitter|3","45466|NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","521363|NM_006218.4(PIK3CA):c.1049A>G (p.Asp350Gly)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","585023|NM_006218.4(PIK3CA):c.248T>C (p.Phe83Ser)|single nucleotide variant|Pathogenic|PIK3CA|no assertion criteria provided|3","917489|NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","995381|NM_006218.4(PIK3CA):c.2727C>A (p.Phe909Leu)|single nucleotide variant|Pathogenic|PIK3CA|no assertion criteria provided|3","995383|NM_006218.4(PIK3CA):c.271G>A (p.Asp91Asn)|single nucleotide variant|Pathogenic|PIK3CA|no assertion criteria provided|3","998149|NM_006218.4(PIK3CA):c.685del (p.Thr229fs)|Deletion|Pathogenic|PIK3CA|no assertion criteria provided|3"]}]}