{"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:7551,10,HGNC:7551,22,9]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:7551","source":"HGNC:7551|myosin binding protein C3","targets":["1027653|NM_000256.3(MYBPC3):c.2132G>A (p.Trp711Ter)|single nucleotide variant|Pathogenic|MYBPC3|no assertion criteria provided|11","1069672|NC_000011.9:g.(?_47364119)_(47374208_?)del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1069713|NM_000256.3(MYBPC3):c.3688_3691dup (p.Ser1231fs)|Duplication|Pathogenic|MYBPC3|criteria provided, single submitter|11","1069832|NC_000011.9:g.(?_47353958)_47355505del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|","1069833|NC_000011.9:g.(?_47360865)_(47369466_?)del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1069890|NM_000256.3(MYBPC3):c.1730G>A (p.Trp577Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1069891|NM_000256.3(MYBPC3):c.1546G>T (p.Glu516Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1069892|NM_000256.3(MYBPC3):c.1420G>T (p.Glu474Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1069893|NM_000256.3(MYBPC3):c.1269_1282del (p.Ser424fs)|Deletion|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1070193|NM_000256.3(MYBPC3):c.514dup (p.Ile172fs)|Duplication|Pathogenic|MYBPC3|criteria provided, single submitter|11","1070637|NM_000256.3(MYBPC3):c.2012_2013insGG (p.Pro672fs)|Insertion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1071502|NC_000011.10:g.47350113del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1072518|NM_000256.3(MYBPC3):c.718_724del (p.Glu240fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1073146|NM_000256.3(MYBPC3):c.3424C>T (p.Gln1142Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1074065|NM_000256.3(MYBPC3):c.318del (p.Ala107fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1074099|NC_000011.10:g.47335210del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1074339|NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1074856|NM_000256.3(MYBPC3):c.1353del (p.Glu451fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1074858|NM_000256.3(MYBPC3):c.1048_1049del (p.Lys350fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1074948|NM_000256.3(MYBPC3):c.3357C>G (p.Tyr1119Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1075725|NC_000011.9:g.(?_47363401)_47367757del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|","1075727|NC_000011.9:g.(?_47357416)_(47360310_?)del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1076196|NM_000256.3(MYBPC3):c.405del (p.Ser137fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1076719|NM_000256.3(MYBPC3):c.1831G>T (p.Glu611Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1076969|NM_000256.3(MYBPC3):c.1839del (p.Tyr614fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1120154|Single allele|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1175163|NM_000256.3(MYBPC3):c.688del (p.Gln230fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1195305|NM_000256.3(MYBPC3):c.1900del (p.Val634fs)|Deletion|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1208791|NM_000256.3(MYBPC3):c.1516del (p.Asp506fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1284521|NM_000256.3(MYBPC3):c.1624+1G>A|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1284776|NM_000256.3(MYBPC3):c.2842_2843del (p.Asn948fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1285121|NM_000256.3(MYBPC3):c.3257_3258dup (p.Lys1087fs)|Duplication|Pathogenic|MYBPC3|no assertion criteria provided|11","1299840|NM_000256.3(MYBPC3):c.2749del (p.Val917fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1327787|NM_000256.3(MYBPC3):c.2149-2A>G|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1333262|NM_000256.3(MYBPC3):c.3313_3314insGG (p.Ala1105fs)|Insertion|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1333510|NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1343363|NM_000256.3(MYBPC3):c.2250_2251insTAG (p.Val751Ter)|Insertion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1359238|NC_000011.9:g.(?_47353422)_(47356780_?)del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1361860|NM_000256.3(MYBPC3):c.3231dup (p.Trp1078fs)|Duplication|Pathogenic|MYBPC3|criteria provided, single submitter|11","1362183|NM_000256.3(MYBPC3):c.2761C>T (p.Gln921Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1365234|NM_000256.3(MYBPC3):c.965G>A (p.Trp322Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1373143|NM_000256.3(MYBPC3):c.3302_3308del (p.Thr1101fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1380559|NM_000256.3(MYBPC3):c.1364_1374del (p.Leu455fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1384488|NM_000256.3(MYBPC3):c.887_891del (p.Ser296fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1387917|NM_000256.3(MYBPC3):c.3124del (p.Thr1042fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1389170|NM_000256.3(MYBPC3):c.1953C>A (p.Cys651Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1394085|NM_000256.3(MYBPC3):c.2071_2072del (p.Gly690_Asn691insTer)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1396529|NC_000011.10:g.47336007_47336016del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1404109|NM_000256.3(MYBPC3):c.1903A>T (p.Lys635Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1424922|NM_000256.3(MYBPC3):c.178G>T (p.Glu60Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1444924|NM_000256.3(MYBPC3):c.2812del (p.Ala938fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1446713|NM_000256.3(MYBPC3):c.3702_3703del (p.Leu1236fs)|Deletion|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1446989|NM_000256.3(MYBPC3):c.537_540del (p.Gly180fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1451679|NM_000256.3(MYBPC3):c.3129C>G (p.Tyr1043Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1452187|NC_000011.9:g.(?_47371305)_(47374198_?)del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1452287|NM_000256.3(MYBPC3):c.1194del (p.Asn399fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1452999|NM_000256.3(MYBPC3):c.3773T>A (p.Leu1258Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1453071|NM_000256.3(MYBPC3):c.403A>T (p.Lys135Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1454298|NM_000256.3(MYBPC3):c.2494G>T (p.Glu832Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1455319|NM_000256.3(MYBPC3):c.2512dup (p.Glu838fs)|Duplication|Pathogenic|MYBPC3|criteria provided, single submitter|11","1455717|NM_000256.3(MYBPC3):c.3309_3328del (p.Gln1103fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1455826|NM_000256.3(MYBPC3):c.3215_3216insG (p.Arg1073fs)|Insertion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1455948|NM_000256.3(MYBPC3):c.2334dup (p.Lys779fs)|Duplication|Pathogenic|MYBPC3|criteria provided, single submitter|11","1456628|NM_000256.3(MYBPC3):c.2857_2858insCAGGGGCTGACAGAGCACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTGCTTTTCCGAGTGCGGGCACACAATATGGCAGGGCCTGG (p.Gly953fs)|Insertion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1457802|NM_000256.3(MYBPC3):c.3328del (p.Met1110fs)|Deletion|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1459506|NM_000256.3(MYBPC3):c.2221dup (p.Ala741fs)|Duplication|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1460174|NM_000256.3(MYBPC3):c.3746del (p.Gly1249fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1460336|NM_000256.3(MYBPC3):c.890C>G (p.Ser297Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1460339|NM_000256.3(MYBPC3):c.787G>T (p.Gly263Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1460465|NM_000256.3(MYBPC3):c.2980del (p.Leu994fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1492081|NM_000256.3(MYBPC3):c.3190+1del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","164042|NC_000011.10:g.47333236del|Deletion|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","164047|NM_000256.3(MYBPC3):c.3166dup (p.Ala1056fs)|Duplication|Pathogenic|MYBPC3|criteria provided, single submitter|11","164048|NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","164049|NM_000256.3(MYBPC3):c.3089_3101del (p.Leu1030fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","164055|NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","164059|NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs)|Deletion|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","164071|NM_000256.3(MYBPC3):c.2556del (p.Ile852fs)|Deletion|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","164073|NC_000011.10:g.47337455_47337476del|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","164107|NM_000256.3(MYBPC3):c.1624+2T>C|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","164118|NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs)|Deletion|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","164134|NM_000256.3(MYBPC3):c.993dup (p.Glu332Ter)|Duplication|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","164135|NM_000256.3(MYBPC3):c.979C>T (p.Gln327Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","164136|NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","164148|NM_000256.3(MYBPC3):c.533del (p.Val178fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1687241|NM_000256.3(MYBPC3):c.3768_3771del (p.Asn1257fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1687285|NM_000256.3(MYBPC3):c.3168del (p.Thr1057fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1705335|NM_000256.3(MYBPC3):c.3805G>T (p.Glu1269Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1729302|NM_000256.3(MYBPC3):c.3240dup (p.Asn1081Ter)|Duplication|Pathogenic|MYBPC3|criteria provided, single submitter|11","1729315|NM_000256.3(MYBPC3):c.3242dup (p.Asn1081fs)|Duplication|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11","1729638|NM_000256.3(MYBPC3):c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091fs)|Indel|Pathogenic|MYBPC3|criteria provided, single submitter|11","1729999|NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1730682|NM_000256.3(MYBPC3):c.3369_3370insA (p.Cys1124fs)|Insertion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1731937|NM_000256.3(MYBPC3):c.3491-1G>A|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1733158|NM_000256.3(MYBPC3):c.3607_3611dup (p.Arg1205fs)|Microsatellite|Pathogenic|MYBPC3|criteria provided, single submitter|11","1735019|NM_000256.3(MYBPC3):c.379dup (p.Leu127fs)|Duplication|Pathogenic|MYBPC3|criteria provided, single submitter|11","1746563|NM_000256.3(MYBPC3):c.528_532del (p.Arg177fs)|Deletion|Pathogenic|MYBPC3|criteria provided, single submitter|11","1754105|NM_000256.3(MYBPC3):c.653delinsGCTGGTGACCC (p.Lys218delinsSerTrpTer)|Indel|Pathogenic|MYBPC3|criteria provided, single submitter|11","1764101|NM_000256.3(MYBPC3):c.862G>T (p.Glu288Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, single submitter|11","1769560|NM_000256.3(MYBPC3):c.1308C>A (p.Cys436Ter)|single nucleotide variant|Pathogenic|MYBPC3|criteria provided, multiple submitters, no conflicts|11"]}]}