{"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:1884,10,HGNC:1884,159,9]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:1884","source":"HGNC:1884|CF transmembrane conductance regulator","targets":["1048778|NM_000492.4(CFTR):c.89dup (p.Arg31fs)|Duplication|Pathogenic|CFTR|criteria provided, single submitter|7","1069281|NM_000492.4(CFTR):c.2560dup (p.Thr854fs)|Duplication|Pathogenic|CFTR|criteria provided, single submitter|7","1069526|NM_000492.4(CFTR):c.489+1G>A|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1069549|NM_000492.4(CFTR):c.300_301del (p.Leu101fs)|Microsatellite|Pathogenic|CFTR|criteria provided, single submitter|7","1070381|NC_000007.13:g.(?_117304664)_(117306195_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1070382|NC_000007.13:g.(?_117174320)_(117176752_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1073653|NM_000492.4(CFTR):c.1573del (p.Gln525fs)|Deletion|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1074249|NC_000007.13:g.(?_117218381)_(117254777_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1074251|NC_000007.13:g.(?_117246713)_(117251872_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1185022|NM_000492.4(CFTR):c.2335C>T (p.Gln779Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1244250|NM_000492.4(CFTR):c.2917C>T (p.Leu973Phe)|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1275739|NM_000492.4(CFTR):c.2620-674_3367+232del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1300161|NM_000492.3:c.54-5842_489+401del|Deletion|Pathogenic|CFTR|reviewed by expert panel|","1300162|NM_000492.3:c.(273+1_274-1)_(1584+1_1585-1)del|Deletion|Pathogenic|CFTR|reviewed by expert panel|","1300163|NM_000492.4(CFTR):c.761del (p.Lys254fs)|Deletion|Pathogenic|CFTR|reviewed by expert panel|7","1300164|NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)|single nucleotide variant|Pathogenic|CFTR|reviewed by expert panel|7","1300165|NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter)|single nucleotide variant|Pathogenic|CFTR|reviewed by expert panel|7","1300166|NM_000492.4(CFTR):c.3600del (p.Asp1201fs)|Deletion|Pathogenic|CFTR|reviewed by expert panel|7","1322070|NM_000492.4(CFTR):c.2909-1G>A|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1328993|NM_000492.4(CFTR):c.396del (p.Ile132fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1330378|NM_000492.4(CFTR):c.3741_3745dup (p.Gly1249fs)|Duplication|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1330401|NM_000492.4(CFTR):c.580G>T (p.Gly194Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1331481|NC_000007.13:g.(117120202_117144306)_(117149197_117170952)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1332860|NM_000492.4(CFTR):c.2848del (p.His950fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1353073|NM_000492.4(CFTR):c.307G>T (p.Gly103Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1361726|NM_000492.4(CFTR):c.3185_3191del (p.Leu1062fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1373833|NM_000492.4(CFTR):c.831G>A (p.Trp277Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1374672|NM_000492.4(CFTR):c.3725del (p.Leu1242fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1387407|NM_000492.4(CFTR):c.3736del (p.Thr1246fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1397987|NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1400413|NM_000492.4(CFTR):c.2872C>T (p.Gln958Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1406009|NM_000492.4(CFTR):c.503C>G (p.Ser168Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1418433|NM_000492.4(CFTR):c.2956del (p.Leu986fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1418949|NM_000492.4(CFTR):c.922_926del (p.Ser308fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1425559|NM_000492.4(CFTR):c.2012T>A (p.Leu671Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1443618|NM_000492.4(CFTR):c.2261del (p.Val754fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1450404|NM_000492.4(CFTR):c.2994del (p.Leu998fs)|Deletion|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1451980|NM_000492.4(CFTR):c.2435dup (p.Leu812fs)|Duplication|Pathogenic|CFTR|criteria provided, single submitter|7","1452452|NM_000492.4(CFTR):c.2959_2960dup (p.Pro988fs)|Duplication|Pathogenic|CFTR|criteria provided, single submitter|7","1452482|NC_000007.13:g.(?_117266272)_(117292995_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1453519|NM_000492.4(CFTR):c.4387_4388del (p.Gln1463fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1453724|NM_000492.4(CFTR):c.326_327del (p.Ser108_Tyr109insTer)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1455020|NC_000007.13:g.(?_117176588)_(117176752_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1457083|NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer)|Microsatellite|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1457561|NC_000007.13:g.(?_117227774)_(117227921_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1457828|NM_000492.4(CFTR):c.2301del (p.Gln767fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1458639|NM_000492.4(CFTR):c.579+1_579+2insACAT|Insertion|Pathogenic|CFTR|criteria provided, single submitter|7","1459174|NC_000007.13:g.(?_117254648)_(117254777_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1459556|NM_000492.4(CFTR):c.156del (p.Lys52fs)|Deletion|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","161997|NM_000492.4(CFTR):c.2700T>A (p.Asn900Lys)|single nucleotide variant|Pathogenic|CFTR|no assertion criteria provided|7","161999|NM_000492.4(CFTR):c.2443G>T (p.Glu815Ter)|single nucleotide variant|Pathogenic|CFTR|no assertion criteria provided|7","162000|NM_000492.4(CFTR):c.830G>A (p.Trp277Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1677121|NM_000492.4(CFTR):c.1551C>G (p.Tyr517Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1685614|NM_000492.4(CFTR):c.532G>C (p.Gly178Arg)|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1685616|NM_000492.4(CFTR):c.1227_1228del (p.Phe409fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1685617|NM_000492.4(CFTR):c.1343_1350del (p.Ile448fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1685618|NM_000492.4(CFTR):c.1547_1548del (p.Arg516fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1685620|NM_000492.4(CFTR):c.2278dup (p.Thr760fs)|Duplication|Pathogenic|CFTR|criteria provided, single submitter|7","1685621|NM_000492.4(CFTR):c.2988+2T>G|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1685622|NM_000492.4(CFTR):c.3301del (p.Gln1100_Met1101insTer)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1685623|NM_000492.4(CFTR):c.3639dup (p.Asp1214fs)|Duplication|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1704256|NM_000492.4(CFTR):c.433C>G (p.Leu145Val)|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1704258|NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1704381|NM_000492.4(CFTR):c.3468_3468+6delinsATAAAAAGCTTATAAAAAG|Indel|Pathogenic|CFTR|criteria provided, single submitter|7","1704404|NM_000492.4(CFTR):c.844G>T (p.Glu282Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1705865|NM_000492.4(CFTR):c.870-12T>A|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1705866|NM_000492.4(CFTR):c.2637_2644del (p.Val880fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1705867|NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG|Indel|Pathogenic|CFTR|criteria provided, single submitter|7","1705868|NM_000492.4(CFTR):c.1579_1584+11del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1705869|NM_000492.4(CFTR):c.2919_2920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT|Insertion|Pathogenic|CFTR|criteria provided, single submitter|7","1705870|NC_000007.14:g.117660798_117670251delinsTAACT|Indel|Pathogenic|CFTR|criteria provided, single submitter|7","1705871|NM_000492.4(CFTR):c.613_870-1547del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1705873|NM_000492.4(CFTR):c.54-5811_164+2186delinsGGGAATTCATTCTTGATTTGCCTCTCTGCTGCCTGTTGTTGGTGTAAACAAAATTCATTTCTTGTTCTTATTTGTGAAATTTTGGAACCAAATCTATTTTCAAATTAGAAATTGCTTGTGATAATGGTTTTGCAACTTAGACTGGATATGAGACGATGAGATATTAGTTCTTTCATTCCTTT|Indel|Pathogenic|CFTR|criteria provided, single submitter|7","1705874|NM_000492.4(CFTR):c.1792A>T (p.Lys598Ter)|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1705875|NM_000492.4(CFTR):c.2743_2745delinsA (p.Val915fs)|Indel|Pathogenic|CFTR|criteria provided, single submitter|7","1705876|NM_000492.4(CFTR):c.4071_4073delinsAA (p.Arg1358fs)|Indel|Pathogenic|CFTR|criteria provided, single submitter|7","1705877|NM_000492.4(CFTR):c.274-3397_489+710del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1705878|NM_000492.4(CFTR):c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC|Indel|Pathogenic|CFTR|criteria provided, single submitter|7","1705983|NM_000492.4:c.(2988+1_2989-1)_(3468+1_3469-1)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1705984|NM_000492.4:c.(53+1_54-1)_(164+1_165-1)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1705985|NM_000492.4:c.53+9713_1392+2669del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1705992|NM_000492.4(CFTR):c.1592_1593delinsG (p.Ile530_Ser531insTer)|Indel|Pathogenic|CFTR|criteria provided, single submitter|7","1706001|NM_000492.4(CFTR):c.3140-16T>A|single nucleotide variant|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1706002|NM_000492.4(CFTR):c.1949del (p.Phe650fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1706009|NM_000492.4(CFTR):c.3525_3537del (p.Thr1176fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1706010|NM_000492.4(CFTR):c.3180del (p.Gly1061fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1706011|NM_000492.4(CFTR):c.3322_3323del (p.Val1108fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1706013|NM_000492.4(CFTR):c.3411_3414del (p.Met1137fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1706021|NM_000492.4(CFTR):c.3889del (p.Ser1297fs)|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1706024|NM_000492.4:c.(2908+1_2909-1)_(4242+1_4243-1)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1706025|NM_000492.4:c.(3468+1_3469-1)_(3717+1_3718-1)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1706029|NM_000492.4:c.(3963+1_3964-1)_(*1_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1706031|NM_000492.4:c.(53+1_54-1)_(1209+1_1210+1)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1706032|NM_000492.4:c.(3468+1_3469-1)_(3963+1_3964-1)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1706033|NM_000492.4:c.(?_-1)_(*1_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1706034|NM_000492.4:c.(4136+1_4137-1)_(4242+1_4243-1)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1706035|NM_000492.4:c.(3139+1_3140-1)_(3367+1_3368-1)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1706036|NM_000492.4:c.(3873+1_3874-1)_(3963+1_3964-1)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|","1706039|NM_000492.4:c.(743+1_744-1)_(1584+1_1585-1)dup|Duplication|Pathogenic|CFTR|criteria provided, single submitter|","1706044|NM_000492.4:c.(1766+1_1767-1)_(2619+1_2620-1)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|"]}]}