{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":28,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:6893","source":"HGNC:6893|microtubule associated protein tau","targets":["14245|NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)|single nucleotide variant|Pathogenic|MAPT|criteria provided, multiple submitters, no conflicts|17","14246|NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val)|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","14247|NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)|single nucleotide variant|Pathogenic|MAPT|criteria provided, multiple submitters, no conflicts|17","14248|NM_001377265.1(MAPT):c.2091+14C>T|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","14251|NM_001377265.1(MAPT):c.2091+1G>A|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","14252|NM_001377265.1(MAPT):c.2185G>A (p.Val729Met)|single nucleotide variant|Pathogenic|MAPT|criteria provided, multiple submitters, no conflicts|17","14253|NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)|single nucleotide variant|Pathogenic|MAPT|criteria provided, multiple submitters, no conflicts|17","14254|NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn)|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","14256|NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser)|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","14257|NM_001377265.1(MAPT):c.2064T>C (p.Asn688=)|single nucleotide variant|Pathogenic|MAPT|criteria provided, multiple submitters, no conflicts|17","14258|NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val)|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","14259|NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr)|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","14260|NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile)|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","14262|NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)|single nucleotide variant|Pathogenic|MAPT|criteria provided, single submitter|17","14263|NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu)|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","14266|NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val)|single nucleotide variant|Pathogenic|MAPT|criteria provided, multiple submitters, no conflicts|17","14267|NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu)|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","14268|NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met)|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","14269|NM_001377265.1(MAPT):c.2084G>T (p.Gly695Val)|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","2573094|NM_001377265.1(MAPT):c.2266C>T (p.Pro756Ser)|single nucleotide variant|Pathogenic|MAPT|criteria provided, single submitter|17","564448|GRCh37/hg19 17q21.31(chr17:43688308-44163085)x1|copy number loss|Pathogenic|MAPT|no assertion criteria provided|17","98212|NM_001377265.1(MAPT):c.1999-10G>T|single nucleotide variant|Pathogenic|MAPT|criteria provided, multiple submitters, no conflicts|17","98218|NM_001377265.1(MAPT):c.2091+3G>A|single nucleotide variant|Pathogenic|MAPT|criteria provided, multiple submitters, no conflicts|17","98219|NM_001377265.1(MAPT):c.2091+11T>C|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","98221|NM_001377265.1(MAPT):c.2091+13A>G|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","98222|NM_001377265.1(MAPT):c.2091+16C>T|single nucleotide variant|Pathogenic|MAPT|criteria provided, multiple submitters, no conflicts|17","98226|NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg)|single nucleotide variant|Pathogenic|MAPT|no assertion criteria provided|17","98243|NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del)|Microsatellite|Pathogenic|MAPT|criteria provided, single submitter|17"]}]}