{"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:6990,10,HGNC:6990,72,9]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:6990","source":"HGNC:6990|methyl-CpG binding protein 2","targets":["1006548|NM_001110792.2(MECP2):c.933_968del (p.Leu313_Val324del)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1069856|NC_000023.10:g.(?_153296154)_153302832del|Deletion|Pathogenic|MECP2|criteria provided, single submitter|","1071768|NM_001110792.2(MECP2):c.74C>G (p.Ser25Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","1071811|NM_001110792.2(MECP2):c.674dup (p.Glu226fs)|Duplication|Pathogenic|MECP2|criteria provided, single submitter|X","1073280|NM_001110792.2(MECP2):c.984_1023del (p.Lys329fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1075736|NC_000023.10:g.(?_153292375)_(153296122_?)del|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1075737|NC_000023.10:g.(?_153357622)_(153363142_?)del|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1076185|NM_001110792.2(MECP2):c.231del (p.Glu78fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1076937|NM_001110792.2(MECP2):c.954_962del (p.Lys319_Arg321del)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","11809|NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)|single nucleotide variant|Pathogenic|MECP2|reviewed by expert panel|X","11815|NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","11817|NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, single submitter|X","11818|NM_001110792.2(MECP2):c.203_204del (p.Pro68fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","11819|NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)|single nucleotide variant|Pathogenic|MECP2|reviewed by expert panel|X","11824|NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)|single nucleotide variant|Pathogenic|MECP2|reviewed by expert panel|X","11828|NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","11833|NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","11834|NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, single submitter|X","11835|NM_001110792.2(MECP2):c.334C>G (p.Leu112Val)|single nucleotide variant|Pathogenic|MECP2|reviewed by expert panel|X","11842|NM_001110792.2(MECP2):c.1192_1224del (p.Leu398_Ser408del)|Deletion|Pathogenic|MECP2|no assertion criteria provided|X","11846|NM_001110792.2(MECP2):c.746del (p.Gly249fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","1206780|NM_001110792.2(MECP2):c.62+2T>A|single nucleotide variant|Pathogenic|MECP2|criteria provided, single submitter|X","1301354|NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","1308657|NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1354117|NM_001110792.2(MECP2):c.140_144del (p.Lys47fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1386387|NC_000023.10:g.(?_153296109)_(153297633_?)del|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1389127|NM_001110792.2(MECP2):c.1201_1237del (p.Pro401fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1401512|NM_001110792.2(MECP2):c.1199del (p.Pro400fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","1402665|NM_001110792.2(MECP2):c.573_574insT (p.Lys192Ter)|Insertion|Pathogenic|MECP2|criteria provided, single submitter|X","1403027|NM_001110792.2(MECP2):c.798_837del (p.Lys266fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1409597|NM_001110792.2(MECP2):c.1120_1252del (p.Pro374fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1419223|NM_001110792.2(MECP2):c.1172_1215del (p.Pro391fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","1429829|NM_001110792.2(MECP2):c.283C>T (p.Gln95Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, single submitter|X","1432561|NM_001110792.2(MECP2):c.1180dup (p.Leu394fs)|Duplication|Pathogenic|MECP2|criteria provided, single submitter|X","143300|NM_004992.3(MECP2):c.(?_-1)_(26_?)del|Deletion|Pathogenic|MECP2|no assertion criteria provided|","143304|NM_001110792.2(MECP2):c.136_139del (p.Asp46fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143307|NM_001110792.2(MECP2):c.1065del (p.Arg356fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143322|NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143323|NM_001110792.2(MECP2):c.143_144del (p.Lys48fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143326|NM_001110792.2(MECP2):c.1123A>T (p.Lys375Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, single submitter|X","143328|NM_001110792.2(MECP2):c.144_147del (p.Glu49fs)|Microsatellite|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143334|NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143337|NM_001110792.2(MECP2):c.1163_1173del (p.Pro388fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143342|NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143343|NM_001110792.2(MECP2):c.1172_1178del (p.Pro391fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143345|NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)|Deletion|Pathogenic|MECP2|reviewed by expert panel|X","143347|NM_001110792.2(MECP2):c.1181_1230del (p.Leu394fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143349|NM_001110792.2(MECP2):c.1186_1228del (p.Pro396fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143351|NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143352|NM_001110792.2(MECP2):c.1187_1227del (p.Pro396fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143354|NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143356|NM_001110792.2(MECP2):c.1190_1221del (p.Pro397fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143357|NM_001110792.2(MECP2):c.1190_1233del (p.Pro397fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143362|NM_001110792.2(MECP2):c.1192_1208del (p.Pro397_Leu398insTer)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143365|NM_001110792.2(MECP2):c.1193_1223del (p.Leu398fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143366|NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143367|NM_001110792.2(MECP2):c.1193_1227del (p.Leu398fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143371|NM_001110792.2(MECP2):c.1193_1235del (p.Leu398fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143372|NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143373|NM_001110792.2(MECP2):c.1194_1203del (p.Pro399fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143374|NM_001110792.2(MECP2):c.1194_1222del (p.Pro399fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143375|NM_001110792.2(MECP2):c.1194_1222delinsCCA (p.Pro399fs)|Indel|Pathogenic|MECP2|criteria provided, single submitter|X","143376|NM_001110792.2(MECP2):c.1194_1234del (p.Pro399fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143377|NM_001110792.2(MECP2):c.1194_1236del (p.Pro399fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143379|NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs)|Indel|Pathogenic|MECP2|criteria provided, single submitter|X","143382|NM_001110792.2(MECP2):c.1195_1237del (p.Pro399fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143384|NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143386|NM_001110792.2(MECP2):c.1196_1221del (p.Pro399fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143387|NM_001110792.2(MECP2):c.1196_1224del (p.Pro399fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143392|NM_001110792.2(MECP2):c.1197_1241delinsA (p.Pro400_Pro401insTer)|Indel|Pathogenic|MECP2|criteria provided, single submitter|X","143395|NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)|Indel|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143400|NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143401|NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143405|NM_001110792.2(MECP2):c.1200_1242del (p.Pro401fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143406|NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)|Deletion|Pathogenic|MECP2|reviewed by expert panel|X","143409|NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143410|NM_001110792.2(MECP2):c.1203_1212del (p.Pro403fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143411|NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143413|NM_004992.3(MECP2):c.(?_1169)_(1170_?)del (p.(?))|Deletion|Pathogenic|MECP2|no assertion criteria provided|","143420|NM_001110792.2(MECP2):c.153dup (p.Glu52fs)|Duplication|Pathogenic|MECP2|criteria provided, single submitter|X","143422|NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143423|NM_001110792.2(MECP2):c.1217_1227del (p.Glu406fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143424|NM_001110792.2(MECP2):c.1221_1227del (p.Ser407fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143425|NM_001110792.2(MECP2):c.1225G>T (p.Glu409Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, single submitter|X","143429|NM_001110792.2(MECP2):c.1230_1231insT (p.Pro411fs)|Insertion|Pathogenic|MECP2|criteria provided, single submitter|X","143434|NM_001110792.2(MECP2):c.1236dup (p.Ser413fs)|Duplication|Pathogenic|MECP2|criteria provided, single submitter|X","143441|NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143457|NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs)|Deletion|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143459|NM_001110792.2(MECP2):c.1356dup (p.Ala453fs)|Duplication|Pathogenic|MECP2|criteria provided, single submitter|X","143462|NM_001110792.2(MECP2):c.1360_1400del (p.Thr454fs)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","143467|NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143469|NM_001110792.2(MECP2):c.1400_1401insC (p.Glu467fs)|Insertion|Pathogenic|MECP2|criteria provided, single submitter|X","143471|NM_004992.3(MECP2):c.(?_1367)_(1431_?)del (p.(?))|Deletion|Pathogenic|MECP2|no assertion criteria provided|","143473|NM_001110792.2(MECP2):c.176dup (p.Pro60fs)|Duplication|Pathogenic|MECP2|criteria provided, single submitter|X","143482|NM_001110792.2(MECP2):c.1486_1489del (p.Arg496fs)|Microsatellite|Pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","143484|NM_001110792.2(MECP2):c.1488_1489dup (p.Val497fs)|Microsatellite|Pathogenic|MECP2|criteria provided, single submitter|X","143485|NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs)|Deletion|Pathogenic|MECP2|reviewed by expert panel|X","143486|NM_001110792.2(MECP2):c.1491_1492dup (p.Ser498fs)|Duplication|Pathogenic|MECP2|criteria provided, single submitter|X","143490|NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp)|single nucleotide variant|Pathogenic|MECP2|reviewed by expert panel|X","143491|NM_001110792.2(MECP2):c.182C>A (p.Ser61Ter)|single nucleotide variant|Pathogenic|MECP2|criteria provided, single submitter|X"]}]}