{"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:7577,10,HGNC:7577,26,23]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:7577","source":"HGNC:7577|myosin heavy chain 7","targets":["1001239|NM_000257.4(MYH7):c.2192C>T (p.Pro731Leu)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1026181|NM_000257.4(MYH7):c.494T>C (p.Met165Thr)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1027658|NM_000257.4(MYH7):c.1572C>G (p.Ile524Met)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1054170|NM_000257.4(MYH7):c.1977G>A (p.Met659Ile)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","1060994|NM_000257.4(MYH7):c.5342G>T (p.Arg1781Leu)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","1194284|NM_000257.4(MYH7):c.979GAG[1] (p.Glu328del)|Microsatellite|Likely pathogenic|MYH7|criteria provided, single submitter|14","1210917|NM_000257.4(MYH7):c.905T>A (p.Leu302Gln)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1275804|NM_000257.4(MYH7):c.1859T>C (p.Leu620Pro)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1299521|NM_000257.4(MYH7):c.514C>G (p.Gln172Glu)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1301885|NM_000257.4(MYH7):c.1603G>C (p.Glu535Gln)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","132908|NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","132913|NM_000257.4(MYH7):c.2174T>C (p.Leu725Pro)|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","132928|NM_000257.4(MYH7):c.1267G>A (p.Ala423Thr)|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","132931|NM_000257.4(MYH7):c.1101G>T (p.Lys367Asn)|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","132934|NM_000257.4(MYH7):c.640-1G>A|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","1329406|NM_000257.4(MYH7):c.2711G>T (p.Arg904Leu)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","1333564|NM_000257.4(MYH7):c.1426C>T (p.Leu476Phe)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","1333631|NM_000257.4(MYH7):c.1844A>C (p.Lys615Thr)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1333641|NM_000257.4(MYH7):c.1531A>C (p.Ile511Leu)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1341987|NM_000257.4(MYH7):c.671A>T (p.Asn224Ile)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1345397|NM_000257.4(MYH7):c.2086A>T (p.Asn696Tyr)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1371217|NM_000257.4(MYH7):c.1971G>C (p.Lys657Asn)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1372350|NM_000257.4(MYH7):c.2128C>G (p.Pro710Ala)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1406156|NM_000257.4(MYH7):c.2012G>C (p.Arg671Pro)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","14093|NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)|single nucleotide variant|Likely pathogenic|MYH7|reviewed by expert panel|14","1476905|NM_000257.4(MYH7):c.2189T>A (p.Ile730Asn)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1483672|NM_000257.4(MYH7):c.1806T>G (p.Asn602Lys)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1488975|NM_000257.4(MYH7):c.5414T>C (p.Leu1805Pro)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1505074|NM_000257.4(MYH7):c.495G>C (p.Met165Ile)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1507354|NC_000014.8:g.(?_23897769)_(23900071_?)del|Deletion|Likely pathogenic|MYH7|criteria provided, single submitter|14","1515356|NM_000257.4(MYH7):c.5655+1G>T|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","155812|NM_000257.4(MYH7):c.860A>G (p.Tyr287Cys)|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","164351|NM_000257.4(MYH7):c.1969A>C (p.Lys657Gln)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","164378|NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys)|single nucleotide variant|Likely pathogenic|MYH7|reviewed by expert panel|14","164381|NM_000257.4(MYH7):c.1012G>A (p.Val338Met)|single nucleotide variant|Likely pathogenic|MYH7|reviewed by expert panel|14","164392|NM_000257.4(MYH7):c.739T>C (p.Phe247Leu)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","1675067|NM_000257.4(MYH7):c.1048T>A (p.Tyr350Asn)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1675533|NM_000257.4(MYH7):c.1610A>C (p.Glu537Ala)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1696840|NM_000257.4(MYH7):c.640-2A>T|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","1710213|NM_000257.4(MYH7):c.2086A>C (p.Asn696His)|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","1710285|NM_000257.4(MYH7):c.1998T>A (p.His666Gln)|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","1752518|NM_000257.4(MYH7):c.1219G>T (p.Gly407Cys)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","177624|NM_000257.4(MYH7):c.1549C>A (p.Leu517Met)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","177664|NM_000257.4(MYH7):c.505A>G (p.Arg169Gly)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","177734|NM_000257.4(MYH7):c.2129C>A (p.Pro710His)|single nucleotide variant|Likely pathogenic|MYH7|reviewed by expert panel|14","177783|NM_000257.4(MYH7):c.2246T>A (p.Leu749Gln)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","177935|NM_000257.4(MYH7):c.799C>G (p.Leu267Val)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","179525|NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","179894|NM_000257.4(MYH7):c.755T>C (p.Phe252Ser)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","1803142|NM_000257.4(MYH7):c.983A>G (p.Glu328Gly)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","180435|NM_000257.4(MYH7):c.1331A>C (p.Asn444Thr)|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","1806336|NM_000257.4(MYH7):c.595G>A (p.Ala199Thr)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","181177|NM_000257.4(MYH7):c.2198G>T (p.Gly733Val)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","181202|NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","181204|NM_000257.4(MYH7):c.2734A>C (p.Lys912Gln)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","181216|NM_000257.4(MYH7):c.3163C>A (p.Leu1055Met)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","181228|NM_000257.4(MYH7):c.3597C>G (p.Ser1199Arg)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","181304|NM_000257.4(MYH7):c.442A>C (p.Ser148Arg)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","181317|NM_000257.4(MYH7):c.649G>C (p.Glu217Gln)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","181341|NM_000257.4(MYH7):c.1315A>G (p.Met439Val)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","181358|NM_000257.4(MYH7):c.2018T>G (p.Ile673Ser)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","181366|NM_000257.4(MYH7):c.5659del (p.Glu1887fs)|Deletion|Likely pathogenic|MYH7|criteria provided, single submitter|14","181379|NM_000257.4(MYH7):c.2783A>T (p.Asp928Val)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","181386|NM_000257.4(MYH7):c.4093A>G (p.Asn1365Asp)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","181406|NM_000257.4(MYH7):c.1316T>G (p.Met439Arg)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","181413|NM_000257.4(MYH7):c.3901_3903del (p.Leu1301del)|Deletion|Likely pathogenic|MYH7|criteria provided, single submitter|14","1879271|NM_000257.4(MYH7):c.2710C>G (p.Arg904Gly)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","1978588|NM_000257.4(MYH7):c.5636A>G (p.Lys1879Arg)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2033293|NM_000257.4(MYH7):c.2128C>T (p.Pro710Ser)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2135797|NM_000257.4(MYH7):c.902T>G (p.Leu301Arg)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2137559|NM_000257.4(MYH7):c.3113T>C (p.Leu1038Pro)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","216968|NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","217464|NM_000257.4(MYH7):c.2201A>C (p.Gln734Pro)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","217471|NM_000257.4(MYH7):c.1479G>C (p.Met493Ile)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","217472|NM_000257.4(MYH7):c.755T>G (p.Phe252Cys)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","2177351|NM_000257.4(MYH7):c.3577C>G (p.Arg1193Gly)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","219836|NM_000257.4(MYH7):c.1615A>C (p.Met539Leu)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","222734|NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal)|Indel|Likely pathogenic|MYH7|criteria provided, single submitter|14","234713|NM_000257.4(MYH7):c.5364_5366del (p.Gln1788_Thr1789delinsHis)|Deletion|Likely pathogenic|MYH7|criteria provided, single submitter|14","235026|NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","235037|NM_000257.4(MYH7):c.773T>C (p.Leu258Ser)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2442446|NM_000257.4(MYH7):c.1053G>T (p.Lys351Asn)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2500944|NM_000257.4(MYH7):c.5655+1G>A|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2570875|NM_000257.4(MYH7):c.461TCT[1] (p.Phe155del)|Microsatellite|Likely pathogenic|MYH7|criteria provided, single submitter|14","2574110|NM_000257.4(MYH7):c.4178T>C (p.Leu1393Pro)|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","2574111|NM_000257.4(MYH7):c.427C>G (p.Arg143Gly)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","2576996|NM_000257.4(MYH7):c.1583T>A (p.Met528Lys)|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","2576997|NM_000257.4(MYH7):c.2214C>A (p.Ser738Arg)|single nucleotide variant|Likely pathogenic|MYH7|no assertion criteria provided|14","2577034|NM_000257.4(MYH7):c.2282C>T (p.Thr761Ile)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2699911|NM_000257.4(MYH7):c.2150A>T (p.Asp717Val)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2736091|NM_000257.4(MYH7):c.950A>G (p.Glu317Gly)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2763277|NM_000257.4(MYH7):c.2722C>A (p.Leu908Met)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2793440|NM_000257.4(MYH7):c.2710C>A (p.Arg904Ser)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2794879|NM_000257.4(MYH7):c.1192G>A (p.Gly398Arg)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2811256|NM_000257.4(MYH7):c.1478T>G (p.Met493Arg)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2848784|NM_000257.4(MYH7):c.1264T>G (p.Tyr422Asp)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","2849030|NM_000257.4(MYH7):c.1616T>C (p.Met539Thr)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","3062303|NM_000257.4(MYH7):c.1370T>A (p.Ile457Lys)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","3075740|NM_000257.4(MYH7):c.3346G>T (p.Glu1116Ter)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14","3230902|NM_000257.4(MYH7):c.2738T>C (p.Ile913Thr)|single nucleotide variant|Likely pathogenic|MYH7|criteria provided, single submitter|14"]}]}