{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:644,10,HGNC:644,120,2]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:644","source":"HGNC:644|androgen receptor","targets":["1068775|NM_000044.6(AR):c.2225G>T (p.Trp742Leu)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1071361|NC_000023.10:g.(?_66905832)_(66905988_?)del|Deletion|Pathogenic|AR|criteria provided, single submitter|X","1071362|NC_000023.10:g.(?_66863078)_(66943703_?)del|Deletion|Pathogenic|AR|criteria provided, single submitter|X","1072748|NM_000044.6(AR):c.1737del (p.Cys580fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","1076800|NM_000044.6(AR):c.1063G>T (p.Glu355Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","1202584|NM_000044.6(AR):c.2607+2T>G|single nucleotide variant|Pathogenic|AR|no assertion criteria provided|X","1202585|NM_000044.6(AR):c.2657A>T (p.His886Leu)|single nucleotide variant|Pathogenic|AR|no assertion criteria provided|X","1244244|NM_000044.6(AR):c.2486A>T (p.Asp829Val)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1298359|NM_000044.6(AR):c.2255G>A (p.Trp752Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","1298364|NM_000044.6(AR):c.1567G>T (p.Glu523Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1298367|NM_000044.6(AR):c.175C>T (p.Gln59Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","1338498|NM_000044.6(AR):c.675_678del (p.Asn224_Tyr225insTer)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","1341693|NM_000044.6(AR):c.2226G>A (p.Trp742Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1342730|NM_000044.6(AR):c.2494C>T (p.Arg832Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","1344487|NM_000044.6(AR):c.2126G>A (p.Gly709Glu)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1344505|NM_000044.6(AR):c.2407dup (p.Gln803fs)|Duplication|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","1394063|NM_000044.6(AR):c.2319_2321dup (p.Tyr774Ter)|Duplication|Pathogenic|AR|criteria provided, single submitter|X","1410848|NM_000044.6(AR):c.1477C>T (p.Gln493Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1421027|NM_000044.6(AR):c.358C>T (p.Gln120Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1437090|NM_000044.6(AR):c.1885+2T>G|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1454388|NC_000023.10:g.(?_66941655)_(66943683_?)del|Deletion|Pathogenic|AR|criteria provided, single submitter|X","1454419|NM_000044.6(AR):c.1707del (p.Cys570fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","1454671|NM_000044.6(AR):c.829_833dup (p.Val279fs)|Duplication|Pathogenic|AR|criteria provided, single submitter|X","1455502|NM_000044.6(AR):c.2512G>T (p.Glu838Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1460010|NC_000023.10:g.(?_66931224)_(66931551_?)del|Deletion|Pathogenic|AR|criteria provided, single submitter|X","1460367|NM_000044.6(AR):c.2515C>A (p.Leu839Ile)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1470535|NM_000044.6(AR):c.1A>T (p.Met1Leu)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","151774|GRCh38/hg38 Xq12(chrX:67532311-68353901)x1|copy number loss|Pathogenic|AR|no assertion criteria provided|X","1518028|NM_000044.6(AR):c.2750del (p.Phe917fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","1526808|GRCh37/hg19 Xq12-13.1(chrX:65734663-68081523)|copy number loss|Pathogenic|AR|criteria provided, single submitter|X","1685531|NM_000044.6(AR):c.208C>T (p.Gln70Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1685535|NM_000044.6(AR):c.1195T>C (p.Trp399Arg)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1685537|NM_000044.6(AR):c.1208C>T (p.Ala403Val)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1685540|NM_000044.6(AR):c.2184C>G (p.Asn728Lys)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1686658|NM_000044.6(AR):c.2484T>A (p.Phe828Leu)|single nucleotide variant|Pathogenic|AR|no assertion criteria provided|X","1698789|NM_000044.6(AR):c.2505C>G (p.Tyr835Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1699233|NM_000044.6(AR):c.2494C>G (p.Arg832Gly)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1709252|NM_000044.6(AR):c.329_333del (p.Leu110fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","1722349|NC_000023.10:g.(66766605_66863097)_(66863250_66905851)del|Deletion|Pathogenic|AR|criteria provided, single submitter|X","1805479|NM_000044.6(AR):c.754G>T (p.Glu252Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","1999095|NM_000044.6(AR):c.1224T>A (p.Tyr408Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2001392|NM_000044.6(AR):c.304A>T (p.Arg102Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2016344|NM_000044.6(AR):c.2191_2199del (p.Val731_Asp733del)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","2017437|NM_000044.6(AR):c.733del (p.Val245fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","2067703|NM_000044.6(AR):c.2162dup (p.Ala722fs)|Duplication|Pathogenic|AR|criteria provided, single submitter|X","2077770|NM_000044.6(AR):c.1756A>T (p.Arg586Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2088069|NM_000044.6(AR):c.2220C>G (p.Tyr740Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2138586|NM_000044.6(AR):c.2156G>A (p.Trp719Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2138587|NM_000044.6(AR):c.2256G>A (p.Trp752Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2138588|NM_000044.6(AR):c.2407del (p.Gln803fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","235415|NM_000044.6(AR):c.1804T>G (p.Cys602Gly)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2422188|NC_000023.10:g.(?_66788225)_(67021550_?)del|Deletion|Pathogenic|AR|criteria provided, single submitter|X","2430348|NM_000044.6(AR):c.2561C>G (p.Ser854Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2430349|NM_000044.6(AR):c.2384_2385del (p.Phe795fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","2635610|NM_000044.6(AR):c.1531A>T (p.Arg511Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","265460|NM_000044.6(AR):c.2257C>T (p.Arg753Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","2662489|NM_000044.6(AR):c.70del (p.Gln24fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","279682|NM_000044.6(AR):c.1822C>T (p.Arg608Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","279683|NM_000044.6(AR):c.220C>T (p.Gln74Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","279684|NM_000044.6(AR):c.1847G>A (p.Arg616His)|single nucleotide variant|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","279685|NM_000044.6(AR):c.1886-1G>A|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","279686|NM_000044.6(AR):c.2301del (p.Asp768fs)|Deletion|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","279687|NM_000044.6(AR):c.2566C>T (p.Arg856Cys)|single nucleotide variant|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","279688|NM_000044.6(AR):c.2567G>T (p.Arg856Leu)|single nucleotide variant|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","279690|NM_000044.6(AR):c.2668G>A (p.Val890Met)|single nucleotide variant|Pathogenic|AR|criteria provided, multiple submitters, no conflicts|X","280062|NM_000044.6(AR):c.2314A>C (p.Asn772His)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2921352|NM_000044.6(AR):c.1339_1342dup (p.Gly448fs)|Duplication|Pathogenic|AR|criteria provided, single submitter|X","2921730|NM_000044.6(AR):c.2268del (p.Asn757fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","2922012|NM_000044.6(AR):c.559G>T (p.Glu187Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2925675|NM_000044.6(AR):c.1605C>G (p.Tyr535Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2925676|NM_000044.6(AR):c.1972C>T (p.Gln658Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2925681|NM_000044.6(AR):c.2491C>T (p.Leu831Phe)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2925682|NM_000044.6(AR):c.2677C>T (p.Pro893Ser)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2941648|NM_000044.6(AR):c.1150dup (p.His384fs)|Duplication|Pathogenic|AR|criteria provided, single submitter|X","2941909|NM_000044.6(AR):c.2225G>A (p.Trp742Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2942759|NM_000044.6(AR):c.190C>T (p.Gln64Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2947606|NM_000044.6(AR):c.546dup (p.Asp183fs)|Duplication|Pathogenic|AR|criteria provided, single submitter|X","2949018|NM_000044.6(AR):c.187C>T (p.Gln63Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2949326|NM_000044.6(AR):c.2319-1G>C|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","2951162|NM_000044.6(AR):c.2505del (p.Asn834_Tyr835insTer)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","2951291|NM_000044.6(AR):c.239_240insGCAGCAGCAGTAGCAGCAGCAGCAGCA (p.Gln80_Glu81insGlnGlnGlnTer)|Microsatellite|Pathogenic|AR|criteria provided, single submitter|X","2952341|NM_000044.6(AR):c.1844del (p.Cys615fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","2952522|NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)|Insertion|Pathogenic|AR|criteria provided, single submitter|X","3061398|NM_000044.6(AR):c.2743del (p.Ile915fs)|Deletion|Pathogenic|AR|no assertion criteria provided|X","3061774|NM_000044.6(AR):c.2059T>C (p.Cys687Arg)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","3062519|GRCh37/hg19 Xq12(chrX:66671409-66776303)|copy number loss|Pathogenic|AR|criteria provided, single submitter|X","3244216|NC_000023.10:g.(?_66863078)_(66863269_?)del|Deletion|Pathogenic|AR|criteria provided, single submitter|X","3336686|NM_000044.6(AR):c.3G>A (p.Met1Ile)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","3336688|NM_000044.6(AR):c.1344_1345insTA (p.Pro449fs)|Insertion|Pathogenic|AR|criteria provided, single submitter|X","3337810|NM_000044.6(AR):c.2293T>C (p.Phe765Leu)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","3340452|NM_000044.6(AR):c.1277C>A (p.Ser426Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","3340490|NM_000044.6(AR):c.1095C>A (p.Tyr365Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","3349323|NM_000044.6(AR):c.260dup (p.Gln88fs)|Duplication|Pathogenic|AR|no assertion criteria provided|X","3382976|NM_000044.6(AR):c.154_220del (p.Ala52fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","3598420|NM_000044.6(AR):c.610G>T (p.Glu204Ter)|single nucleotide variant|Pathogenic|AR|criteria provided, single submitter|X","3602178|NM_000044.6(AR):c.2317_2318+2del|Deletion|Pathogenic|AR|criteria provided, single submitter|X","373055|NM_000044.6(AR):c.2039_2056del (p.Ala680_Val685del)|Deletion|Pathogenic|AR|criteria provided, single submitter|X","373921|NM_000044.6(AR):c.865G>T (p.Glu289Ter)|single nucleotide variant|Pathogenic|AR|no assertion criteria provided|X","3752625|NM_000044.6(AR):c.239_240insGC (p.Glu81fs)|Insertion|Pathogenic|AR|criteria provided, single submitter|X","3755704|NM_000044.6(AR):c.928_929del (p.Ser310fs)|Deletion|Pathogenic|AR|criteria provided, single submitter|X"]}]}