{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:6990,10,HGNC:6990,20,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:6990","source":"HGNC:6990|methyl-CpG binding protein 2","targets":["1000879|NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, multiple submitters, no conflicts|X","1002925|NM_001110792.2(MECP2):c.1165_1179del (p.Lys389_Pro393del)|Deletion|Conflicting classifications of pathogenicity|MECP2|criteria provided, conflicting classifications|X","1003411|NM_001110792.2(MECP2):c.1489G>C (p.Val497Leu)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1006465|NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, multiple submitters, no conflicts|X","1006548|NM_001110792.2(MECP2):c.933_968del (p.Leu313_Val324del)|Deletion|Pathogenic|MECP2|criteria provided, single submitter|X","1008696|NM_001110792.2(MECP2):c.1414G>T (p.Asp472Tyr)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, single submitter|X","1009081|NM_001110792.2(MECP2):c.1373C>T (p.Ala458Val)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1010655|NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr)|single nucleotide variant|Benign|MECP2|reviewed by expert panel|X","1014197|NM_001110792.2(MECP2):c.727G>T (p.Gly243Trp)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, single submitter|X","1016762|NM_001110792.2(MECP2):c.1118C>T (p.Pro373Leu)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1017954|NM_001110792.2(MECP2):c.80A>C (p.Asp27Ala)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, single submitter|X","1026306|NM_001110792.2(MECP2):c.628_645dup (p.Arg210_Thr215dup)|Duplication|Uncertain significance|MECP2|criteria provided, single submitter|X","1027605|NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu)|single nucleotide variant|Pathogenic/Likely pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","1029915|NM_001110792.2(MECP2):c.1146C>G (p.His382Gln)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, single submitter|X","1029916|NM_001110792.2(MECP2):c.465A>G (p.Glu155=)|single nucleotide variant|Conflicting classifications of pathogenicity|MECP2|criteria provided, conflicting classifications|X","1036330|NM_001110792.2(MECP2):c.73T>G (p.Ser25Ala)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, single submitter|X","1037061|NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, multiple submitters, no conflicts|X","1040244|NM_001110792.2(MECP2):c.1209T>A (p.Pro403=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1041240|NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|MECP2|criteria provided, conflicting classifications|X","1043602|NM_001110792.2(MECP2):c.1384T>C (p.Tyr462His)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, single submitter|X","1045960|NM_001110792.2(MECP2):c.1108G>T (p.Ala370Ser)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, single submitter|X","1053099|NM_001110792.2(MECP2):c.248C>G (p.Ala83Gly)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, single submitter|X","1054347|NC_000023.10:g.(?_153297634)_(153298028_?)dup|Duplication|Uncertain significance|MECP2|criteria provided, single submitter|X","1056746|NM_001110792.2(MECP2):c.905A>G (p.Glu302Gly)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, single submitter|X","1058494|NM_001110792.2(MECP2):c.1013C>A (p.Ser338Tyr)|single nucleotide variant|Benign|MECP2|criteria provided, single submitter|X","1062342|NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, multiple submitters, no conflicts|X","1063351|NM_001110792.2(MECP2):c.869C>T (p.Ala290Val)|single nucleotide variant|Conflicting classifications of pathogenicity|MECP2|criteria provided, conflicting classifications|X","1066884|NM_001110792.2(MECP2):c.215G>A (p.Gly72Asp)|single nucleotide variant|Likely 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","1078465|NM_001110792.2(MECP2):c.45A>C (p.Gly15=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1079195|NM_001110792.2(MECP2):c.861G>A (p.Val287=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1080859|NM_001110792.2(MECP2):c.414-10G>A|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1081296|NM_001110792.2(MECP2):c.852G>C (p.Pro284=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1082566|NM_001110792.2(MECP2):c.1191C>T (p.Pro397=)|single nucleotide variant|Likely benign|MECP2|criteria provided, multiple submitters, no conflicts|X","1083617|NM_001110792.2(MECP2):c.1287G>A (p.Lys429=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1084877|NM_001110792.2(MECP2):c.723G>A (p.Ser241=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1085142|NM_001110792.2(MECP2):c.1059C>T (p.Ser353=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1085388|NM_001110792.2(MECP2):c.549A>G (p.Lys183=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1085578|NM_001110792.2(MECP2):c.1311G>A (p.Glu437=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1086045|NM_001110792.2(MECP2):c.1236C>G (p.Thr412=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1091898|NM_001110792.2(MECP2):c.1014C>T (p.Ser338=)|single nucleotide variant|Likely benign|MECP2|criteria provided, multiple submitters, no conflicts|X","1092296|NM_001110792.2(MECP2):c.765C>A (p.Thr255=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1096199|NM_001110792.2(MECP2):c.480A>G (p.Thr160=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1097635|NM_001110792.2(MECP2):c.969G>A (p.Thr323=)|single nucleotide variant|Likely benign|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","1107862|NM_001110792.2(MECP2):c.753C>T (p.Ala251=)|single nucleotide variant|Likely benign|MECP2|criteria provided, multiple submitters, no conflicts|X","1107931|NM_001110792.2(MECP2):c.990A>G (p.Glu330=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1109062|NM_001110792.2(MECP2):c.813C>A (p.Ala271=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1109207|NM_001110792.2(MECP2):c.1167G>A (p.Lys389=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1112307|NM_001110792.2(MECP2):c.1185C>G (p.Leu395=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1113606|NM_001110792.2(MECP2):c.87C>T (p.Asp29=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1114532|NM_001110792.2(MECP2):c.1393C>A (p.Arg465=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1127365|NM_001110792.2(MECP2):c.954C>G (p.Arg318=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1128167|NM_001110792.2(MECP2):c.606C>T (p.Arg202=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1129106|NM_001110792.2(MECP2):c.1249C>T (p.Pro417Ser)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1131428|NM_001110792.2(MECP2):c.917G>A (p.Arg306Gln)|single nucleotide variant|Likely benign|MECP2|criteria provided, multiple submitters, no conflicts|X","1134169|NM_001110792.2(MECP2):c.483C>A (p.Ser161=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1134262|NM_001110792.2(MECP2):c.1371G>C (p.Thr457=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1134263|NM_001110792.2(MECP2):c.1035G>A (p.Gly345=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1134637|NM_001110792.2(MECP2):c.672C>A (p.Val224=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1135089|NM_001110792.2(MECP2):c.582A>G (p.Pro194=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1135970|NM_001110792.2(MECP2):c.669G>T (p.Arg223Ser)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1140275|NM_001110792.2(MECP2):c.186C>T (p.Ala62=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1142971|NM_001110792.2(MECP2):c.192C>G (p.His64Gln)|single nucleotide variant|Likely benign|MECP2|criteria provided, multiple submitters, no conflicts|X","1143545|NM_001110792.2(MECP2):c.1119C>T (p.Pro373=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1145612|NM_001110792.2(MECP2):c.420G>A (p.Gln140=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1148024|NM_001110792.2(MECP2):c.129G>A (p.Val43=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1149684|NM_001110792.2(MECP2):c.1476C>T (p.Pro492=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1152555|NM_001110792.2(MECP2):c.1086C>T (p.Ser362=)|single nucleotide variant|Conflicting classifications of pathogenicity|MECP2|criteria provided, conflicting classifications|X","1153890|NM_001110792.2(MECP2):c.855G>C (p.Gly285=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1157770|NM_001110792.2(MECP2):c.1350C>T (p.Pro450=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1161611|NM_001110792.2(MECP2):c.1095G>A (p.Gly365=)|single nucleotide variant|Likely benign|MECP2|criteria provided, single submitter|X","1163701|NM_001110792.2(MECP2):c.1193_1230del (p.Leu398fs)|Deletion|Uncertain significance|MECP2|criteria provided, single submitter|X","1165248|NM_001110792.2(MECP2):c.1439G>C (p.Arg480Thr)|single nucleotide variant|Benign|MECP2|criteria provided, single submitter|X","1166038|NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|MECP2|criteria provided, conflicting classifications|X","1166099|NM_001110792.2(MECP2):c.806C>G (p.Ala269Gly)|single nucleotide variant|Benign|MECP2|criteria provided, single submitter|X","1166268|NM_001110792.2(MECP2):c.75A>G (p.Ser25=)|single nucleotide variant|Benign|MECP2|criteria provided, single submitter|X","1167124|NM_001110792.2(MECP2):c.1359C>T (p.Ala453=)|single nucleotide variant|Benign|MECP2|criteria provided, single submitter|X","1168884|NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro)|single nucleotide variant|Benign/Likely benign|MECP2|criteria provided, multiple submitters, no conflicts|X","1169729|NM_001110792.2(MECP2):c.1102A>G (p.Ser368Gly)|single nucleotide variant|Benign|MECP2|criteria provided, single submitter|X","1170846|NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser)|single nucleotide variant|Benign|MECP2|reviewed by expert panel|X","1172794|NM_001110792.2(MECP2):c.1123AAG[1] (p.Lys376del)|Microsatellite|Uncertain significance|MECP2|criteria provided, single submitter|X","1174899|NM_001110792.2(MECP2):c.47_49dup (p.Gly16dup)|Duplication|Likely benign|MECP2|criteria provided, single submitter|X","1176610|NM_001110792.2(MECP2):c.840G>A (p.Arg280=)|single nucleotide variant|Likely benign|MECP2|criteria provided, multiple submitters, no conflicts|X","11809|NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)|single nucleotide variant|Pathogenic|MECP2|reviewed by expert panel|X","11810|NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser)|single nucleotide variant|Likely pathogenic|MECP2|criteria provided, single submitter|X","11811|NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)|single nucleotide variant|Pathogenic/Likely pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|X","11814|NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)|single nucleotide variant|Pathogenic/Likely pathogenic|MECP2|criteria provided, multiple submitters, no conflicts|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","1181967|NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp)|single nucleotide variant|Uncertain significance|MECP2|criteria provided, multiple submitters, no conflicts|X"]}]}