{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":23,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:620","source":"HGNC:620|amyloid beta precursor protein","targets":["1353302|NC_000021.8:g.(?_27251861)_(27544138_?)dup|Duplication|Pathogenic|APP|criteria provided, single submitter|21","1457308|NM_000484.4(APP):c.2145_2146delinsTG (p.Ile716Val)|Indel|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21","1526702|GRCh37/hg19 21q11.2-21.3(chr21:15006457-27430623)|copy number gain|Pathogenic|APP|criteria provided, single submitter|21","1807236|Single allele|Duplication|Pathogenic|APP|criteria provided, single submitter|21","18087|NM_000484.4(APP):c.2077G>C (p.Glu693Gln)|single nucleotide variant|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21","18088|NM_000484.4(APP):c.2149G>A (p.Val717Ile)|single nucleotide variant|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21","18089|NM_000484.4(APP):c.2149G>T (p.Val717Phe)|single nucleotide variant|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21","18090|NM_000484.4(APP):c.2150T>G (p.Val717Gly)|single nucleotide variant|Pathogenic|APP|criteria provided, single submitter|21","18091|NM_000484.4(APP):c.2075C>G (p.Ala692Gly)|single nucleotide variant|Pathogenic|APP|no assertion criteria provided|21","18093|NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu)|Inversion|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21","18096|NM_000484.4(APP):c.2146A>G (p.Ile716Val)|single nucleotide variant|Pathogenic|APP|criteria provided, single submitter|21","18098|NM_000484.4(APP):c.2078A>G (p.Glu693Gly)|single nucleotide variant|Pathogenic|APP|no assertion criteria provided|21","18099|NM_000484.4(APP):c.2077G>A (p.Glu693Lys)|single nucleotide variant|Pathogenic|APP|no assertion criteria provided|21","18100|NM_000484.4(APP):c.2141C>T (p.Thr714Ile)|single nucleotide variant|Pathogenic|APP|criteria provided, single submitter|21","18101|NM_000484.4(APP):c.2080G>A (p.Asp694Asn)|single nucleotide variant|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21","18102|NM_000484.4(APP):c.2140A>G (p.Thr714Ala)|single nucleotide variant|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21","18105|NM_000484.4(APP):c.2149G>C (p.Val717Leu)|single nucleotide variant|Pathogenic|APP|criteria provided, single submitter|21","18106|NM_000484.4(APP):c.2018C>T (p.Ala673Val)|single nucleotide variant|Pathogenic|APP|no assertion criteria provided|21","2423147|NC_000021.8:g.(?_27113910)_(27542938_?)dup|Duplication|Pathogenic|APP|criteria provided, single submitter|21","2498894|NM_000484.4(APP):c.2146A>T (p.Ile716Phe)|single nucleotide variant|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21","3338917|NC_000021.8:g.(?_27252860)_(27543089_?)dup|Duplication|Pathogenic|APP|criteria provided, single submitter|21","98238|NM_000484.4(APP):c.2144T>C (p.Val715Ala)|single nucleotide variant|Pathogenic|APP|no assertion criteria provided|21","98240|NM_000484.4(APP):c.2147T>C (p.Ile716Thr)|single nucleotide variant|Pathogenic|APP|criteria provided, single submitter|21"]}]}