{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Likely pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:6990,10,HGNC:6990,83,13]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:6990","source":"HGNC:6990|methyl-CpG binding protein 2","targets":["1066884|NM_001110792.2(MECP2):c.215G>A (p.Gly72Asp)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","1098273|NM_001110792.2(MECP2):c.398A>T (p.Asp133Val)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","11810|NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","11841|NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","11844|NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)|single nucleotide variant|Likely pathogenic|MECP2|reviewed by expert panel|X","1324711|NM_001110792.2(MECP2):c.337C>A (p.Pro113Thr)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143302|NM_001110792.2(MECP2):c.1040_1073del (p.Gly347fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143303|NM_001110792.2(MECP2):c.1045_1063del (p.Lys349fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143311|NM_001110792.2(MECP2):c.1079_1092del (p.Glu360fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143313|NM_001110792.2(MECP2):c.1087_1090del (p.Pro363fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143315|NM_001110792.2(MECP2):c.1095_1108del (p.Arg366fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143318|NM_001110792.2(MECP2):c.1097_1110del (p.Arg366fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143327|NM_001110792.2(MECP2):c.1124_1151del (p.Lys375fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143329|NM_001110792.2(MECP2):c.1135_1154del (p.His379fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143333|NM_001110792.2(MECP2):c.1141del (p.His381fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143335|NM_001110792.2(MECP2):c.1161_1173del (p.Pro388fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143338|NM_001110792.2(MECP2):c.1165_1169delinsGAGT (p.Lys389fs)|Indel|Likely pathogenic|MECP2|criteria provided, single submitter|X","143339|NM_001110792.2(MECP2):c.1168_1195del (p.Ala390fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143355|NM_001110792.2(MECP2):c.1189_1226del (p.Pro397fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143359|NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143361|NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs)|Duplication|Likely pathogenic|MECP2|criteria provided, single submitter|X","143394|NM_001110792.2(MECP2):c.1198_1199del (p.Pro400fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143399|NM_001110792.2(MECP2):c.1199_1209del (p.Pro400fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143408|NM_001110792.2(MECP2):c.1200del (p.Pro401fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143415|NM_001110792.2(MECP2):c.1209_1224del (p.Glu404fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143426|NM_001110792.2(MECP2):c.1225_1232del (p.Glu409fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143428|NM_001110792.2(MECP2):c.1226dup (p.Asp410fs)|Duplication|Likely pathogenic|MECP2|criteria provided, single submitter|X","143432|NM_001110792.2(MECP2):c.1233dup (p.Thr412fs)|Duplication|Likely pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143433|NM_001110792.2(MECP2):c.155_156del (p.Glu52fs)|Microsatellite|Likely pathogenic|MECP2|criteria provided, single submitter|X","143436|NM_001110792.2(MECP2):c.1238dup (p.Ser413fs)|Duplication|Likely pathogenic|MECP2|criteria provided, single submitter|X","143442|NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143444|NM_001110792.2(MECP2):c.1268_1272del (p.Ser423fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143447|NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143448|NM_001110792.2(MECP2):c.1274_1302del (p.Cys425fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143451|NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG (p.Gly434fs)|Indel|Likely pathogenic|MECP2|criteria provided, single submitter|X","143453|NM_001110792.2(MECP2):c.162dup (p.His55fs)|Duplication|Likely pathogenic|MECP2|criteria provided, single submitter|X","143464|NM_001110792.2(MECP2):c.1366_1378del (p.Ala456fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143481|NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143487|NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143488|NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143489|NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143506|NM_001110792.2(MECP2):c.265_274del (p.Ala89fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143512|NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143513|NM_001110792.2(MECP2):c.311dup (p.Pro105fs)|Duplication|Likely pathogenic|MECP2|criteria provided, single submitter|X","143517|NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143519|NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143521|NM_001110792.2(MECP2):c.331_333del (p.Thr111del)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143525|NM_001110792.2(MECP2):c.338C>A (p.Pro113His)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143527|NM_001110792.2(MECP2):c.338C>T (p.Pro113Leu)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143531|NM_001110792.2(MECP2):c.347_359del (p.Trp116fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143533|NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143536|NM_001110792.2(MECP2):c.359T>A (p.Leu120His)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143538|NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143542|NM_001110792.2(MECP2):c.381del (p.Ser128fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143545|NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143555|NM_001110792.2(MECP2):c.422G>T (p.Gly141Val)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143558|NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143561|NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143565|NM_001110792.2(MECP2):c.447del (p.Glu149fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143566|NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143568|NM_001110792.2(MECP2):c.456del (p.Tyr153fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143571|NM_001110792.2(MECP2):c.464_465insT (p.Glu155fs)|Insertion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143576|NM_001110792.2(MECP2):c.475del (p.Asp159fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143577|NM_001110792.2(MECP2):c.487del (p.Asp163fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143578|NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)|single nucleotide variant|Likely pathogenic|MECP2|reviewed by expert panel|X","143580|NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143581|NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143582|NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143585|NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile)|single nucleotide variant|Likely pathogenic|MECP2|reviewed by expert panel|X","143588|NM_001110792.2(MECP2):c.506dup (p.Thr170fs)|Duplication|Likely pathogenic|MECP2|criteria provided, single submitter|X","143592|NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143595|NM_001110792.2(MECP2):c.516del (p.Arg174fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143596|NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143597|NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143598|NM_001110792.2(MECP2):c.518G>T (p.Gly173Val)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143599|NM_001110792.2(MECP2):c.519del (p.Arg174fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143602|NM_001110792.2(MECP2):c.531del (p.Ser178fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143610|NM_001110792.2(MECP2):c.559A>T (p.Lys187Ter)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143614|NM_001110792.2(MECP2):c.567del (p.Lys189fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143619|NM_001110792.2(MECP2):c.590del (p.Gly197fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143632|NM_001110792.2(MECP2):c.637dup (p.Ala213fs)|Duplication|Likely pathogenic|MECP2|criteria provided, single submitter|X","143633|NM_001110792.2(MECP2):c.644_645insA (p.Ser216fs)|Insertion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143639|NM_001110792.2(MECP2):c.653del (p.Gly218fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143667|NM_001110792.2(MECP2):c.751del (p.Ala251fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143676|NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs)|Insertion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143693|NM_001110792.2(MECP2):c.796A>T (p.Lys266Ter)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143697|NM_001110792.2(MECP2):c.828_829del (p.Pro277fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143704|NM_001110792.2(MECP2):c.848_854del (p.Lys283fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143710|NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)|single nucleotide variant|Likely pathogenic|MECP2|reviewed by expert panel|X","143713|NM_001110792.2(MECP2):c.890dup (p.Lys298fs)|Duplication|Likely pathogenic|MECP2|criteria provided, single submitter|X","143717|NM_001110792.2(MECP2):c.900dup (p.Lys301fs)|Duplication|Likely pathogenic|MECP2|criteria provided, single submitter|X","143718|NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143719|NM_001110792.2(MECP2):c.901_902del (p.Lys301fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143723|NM_001110792.2(MECP2):c.916_920del (p.Arg306fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143726|NM_001110792.2(MECP2):c.919del (p.Ser307fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143729|NM_001110792.2(MECP2):c.934_940del (p.Val312fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143730|NM_001110792.2(MECP2):c.934del (p.Val312fs)|Deletion|Likely pathogenic|MECP2|criteria provided, single submitter|X","143733|NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","143742|NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu)|single nucleotide variant|Likely pathogenic|MECP2|reviewed by expert panel|X","143744|NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X"]}]}