{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":76,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:7577","source":"HGNC:7577|myosin heavy chain 7","targets":["1071112|NM_000257.4(MYH7):c.732+1G>T|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","1175039|NM_000257.4(MYH7):c.5754C>G (p.Asn1918Lys)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","132914|NM_000257.4(MYH7):c.2163-1G>A|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","132916|NM_000257.4(MYH7):c.2051T>G (p.Met684Arg)|single nucleotide variant|Pathogenic|MYH7|no assertion criteria provided|14","132917|NM_000257.4(MYH7):c.2028del (p.Asn676fs)|Deletion|Pathogenic|MYH7|no assertion criteria provided|14","132920|NM_000257.4(MYH7):c.1956+2T>G|single nucleotide variant|Pathogenic|MYH7|no assertion criteria provided|14","132926|NM_000257.4(MYH7):c.1530C>A (p.Phe510Leu)|single nucleotide variant|Pathogenic|MYH7|no assertion criteria provided|14","132930|NM_000257.4(MYH7):c.1151C>A (p.Ser384Tyr)|single nucleotide variant|Pathogenic|MYH7|no assertion criteria provided|14","132933|NM_000257.4(MYH7):c.1073A>T (p.His358Leu)|single nucleotide variant|Pathogenic|MYH7|no assertion criteria provided|14","1335139|NM_000257.4(MYH7):c.1277C>T (p.Ala426Val)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","1407730|NM_000257.4(MYH7):c.4048G>A (p.Glu1350Lys)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","14087|NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14089|NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14090|NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14091|NM_000257.4(MYH7):c.1816G>A (p.Val606Met)|single nucleotide variant|Pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","14095|NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14096|nsv513807|Deletion|Pathogenic|MYH7|no assertion criteria provided|","14097|NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14098|NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14099|NM_000257.4(MYH7):c.767G>A (p.Gly256Glu)|single nucleotide variant|Pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","14101|NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)|single nucleotide variant|Pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","14102|NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14103|NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys)|single nucleotide variant|Pathogenic|MYH7|no assertion criteria provided|14","14104|NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14105|NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14106|NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","14107|NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14108|NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14117|NM_000257.4(MYH7):c.5702A>T (p.His1901Leu)|single nucleotide variant|Pathogenic|MYH7|no assertion criteria provided|14","14125|NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","14129|NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","143218|NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del)|Deletion|Pathogenic|MYH7|no assertion criteria provided|14","155814|NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","164294|NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","164316|NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","164342|NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","164401|NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","1687316|NM_000257.4(MYH7):c.1350G>T (p.Lys450Asn)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","177626|NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)|single nucleotide variant|Pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","177665|NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","1783295|NM_000257.4(MYH7):c.1955G>A (p.Arg652Lys)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","1786737|NM_000257.4(MYH7):c.2150A>C (p.Asp717Ala)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","181319|NM_000257.4(MYH7):c.730T>C (p.Phe244Leu)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","181340|NM_000257.4(MYH7):c.1234A>T (p.Thr412Ser)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","181345|NM_000257.4(MYH7):c.1400T>C (p.Ile467Thr)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","237444|NM_000257.4(MYH7):c.761C>A (p.Ala254Glu)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","2702266|NM_000257.4(MYH7):c.5790+2del|Deletion|Pathogenic|MYH7|criteria provided, single submitter|14","2736084|NM_000257.4(MYH7):c.2150A>G (p.Asp717Gly)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","2840901|NM_000257.4(MYH7):c.415G>C (p.Val139Leu)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","2853260|NM_000257.4(MYH7):c.746G>C (p.Arg249Pro)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","3338334|NM_000257.4(MYH7):c.728G>C (p.Arg243Pro)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","3354701|NM_000257.4(MYH7):c.732+2T>C|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","3775810|NM_000257.4(MYH7):c.1833G>C (p.Lys611Asn)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","3901153|NM_000257.4(MYH7):c.2185G>C (p.Ala729Pro)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","407187|NM_000257.4(MYH7):c.1544T>G (p.Met515Arg)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","42838|NM_000257.4(MYH7):c.1358G>A (p.Arg453His)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","42875|NM_000257.4(MYH7):c.1988G>A (p.Arg663His)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","42885|NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","42922|NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","42926|NM_000257.4(MYH7):c.2711G>A (p.Arg904His)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","42933|NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys)|single nucleotide variant|Pathogenic|MYH7|criteria provided, multiple submitters, no conflicts|14","429741|NM_000257.4(MYH7):c.1810A>G (p.Thr604Ala)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","42992|NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","43106|NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)|single nucleotide variant|Pathogenic|MYH7|reviewed by expert panel|14","454395|NM_000257.4(MYH7):c.732+2T>G|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","524975|NM_000257.4(MYH7):c.1159C>T (p.Leu387Phe)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","574861|NM_000257.4(MYH7):c.1801C>T (p.Leu601Phe)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","619177|NM_000257.4(MYH7):c.1963C>A (p.Leu655Met)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","619263|NM_000257.4(MYH7):c.1400T>A (p.Ile467Asn)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","634543|NM_000257.4(MYH7):c.195T>G (p.Tyr65Ter)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","656014|NM_000257.4(MYH7):c.1711G>C (p.Gly571Arg)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","656887|NM_000257.4(MYH7):c.5594A>C (p.Gln1865Pro)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","66082|NM_000257.4(MYH7):c.5754C>R (p.Asn1918Lys)|single nucleotide variant|Pathogenic|MYH7|no assertion criteria provided|14","841613|NM_000257.4(MYH7):c.2134C>A (p.Arg712Ser)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","847327|NM_000257.4(MYH7):c.2146G>C (p.Gly716Arg)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14","939396|NM_000257.4(MYH7):c.2707G>C (p.Glu903Gln)|single nucleotide variant|Pathogenic|MYH7|criteria provided, single submitter|14"]}]}