{"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:2928,10,HGNC:2928,123,5]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:2928","source":"HGNC:2928|dystrophin","targets":["1012902|GRCh37/hg19 Xp21.1(chrX:32235033-32235180)x4|copy number gain|Pathogenic|DMD|criteria provided, single submitter|X","1050819|NC_000023.10:g.(32430031_32456357)_(32563452_32583818)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1062575|NC_000023.10:g.(?_32613864)_(32841514_?)dup|Duplication|Pathogenic|DMD|criteria provided, single submitter|X","1065130|NC_000023.10:g.(31697704_31747747)_(31747866_31792076)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1066543|NM_004006.3(DMD):c.961-2A>G|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1068606|NC_000023.10:g.(?_31462588)_31697713dup|Duplication|Pathogenic|DMD|criteria provided, single submitter|","1068684|NM_004006.3(DMD):c.1402_1406del (p.Glu468fs)|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069170|NC_000023.10:g.(?_31139940)_33229483del|Deletion|Pathogenic|DMD|criteria provided, single submitter|","1069343|NC_000023.10:g.(?_31279052)_(31279153_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069344|NC_000023.10:g.(?_32732288)_32834581del|Deletion|Pathogenic|DMD|criteria provided, single submitter|","1069345|NC_000023.10:g.(?_32305637)_(33357392_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069390|NM_004006.3(DMD):c.3426C>A (p.Cys1142Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1069564|NC_000023.10:g.(?_32328179)_(32536268_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069565|NC_000023.10:g.(?_32380895)_(32519969_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069566|NC_000023.10:g.(?_32827600)_(33038327_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069567|NC_000023.10:g.(?_32583809)_(33038327_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069568|NC_000023.10:g.(?_32456338)_(32509655_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069569|NC_000023.10:g.(?_32328189)_(32503226_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069570|NC_000023.10:g.(?_32479316)_(32490436_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069704|NM_004006.3(DMD):c.418del (p.Leu140fs)|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069818|NM_004006.3(DMD):c.1383dup (p.Asp462Ter)|Duplication|Pathogenic|DMD|criteria provided, single submitter|X","1069847|NC_000023.10:g.(?_32429859)_(32862987_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069848|NC_000023.10:g.(?_32305636)_(32361413_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1069895|NM_004006.3(DMD):c.5404C>T (p.Gln1802Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1069896|NM_004006.3(DMD):c.4777G>T (p.Glu1593Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1069989|NM_004006.3(DMD):c.8853_8865del (p.Gln2952fs)|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1070053|NM_004006.3(DMD):c.3511G>T (p.Glu1171Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, multiple submitters, no conflicts|X","1070054|NM_004006.3(DMD):c.2994T>A (p.Tyr998Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1070271|NC_000023.10:g.(?_31164402)_(31697709_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1070272|NC_000023.10:g.(?_31697482)_(31792319_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1070319|NM_004006.3(DMD):c.31+1G>A|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1070487|NC_000023.10:g.(?_32563256)_(32563471_?)dup|Duplication|Pathogenic|DMD|criteria provided, single submitter|X","1070488|NC_000023.10:g.(?_32235013)_(32235200_?)dup|Duplication|Pathogenic|DMD|criteria provided, single submitter|X","1070660|NM_004006.3(DMD):c.2508_2509dup (p.Asn837fs)|Microsatellite|Pathogenic|DMD|criteria provided, multiple submitters, no conflicts|X","1070671|NM_004006.3(DMD):c.1696G>T (p.Glu566Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1071032|NM_004006.3(DMD):c.568C>T (p.Gln190Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1071092|NM_004006.3(DMD):c.1240G>T (p.Glu414Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1071382|NC_000023.10:g.(?_31893295)_(33229429_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071383|NC_000023.10:g.(?_31854825)_(33229429_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071406|NM_004006.3(DMD):c.3088A>T (p.Lys1030Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1071448|NM_004006.3(DMD):c.1150-2_1150-1del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071519|NC_000023.10:g.(?_32380895)_(32632580_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071520|NC_000023.10:g.(?_32328179)_(32632590_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071521|NC_000023.10:g.(?_32536115)_(32614003_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071522|NC_000023.10:g.(?_32456348)_(32614003_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071576|NM_004006.3(DMD):c.4518+2T>G|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1071708|NC_000023.10:g.(?_32364040)_(32490446_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071709|NC_000023.10:g.(?_32583809)_(32867947_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071710|NC_000023.10:g.(?_32563266)_(32867947_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071817|NM_004006.3(DMD):c.142dup (p.Arg48fs)|Duplication|Pathogenic|DMD|criteria provided, single submitter|X","1071865|NC_000023.10:g.(?_31947693)_(32867957_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071866|NC_000023.10:g.(?_32398617)_(32430336_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1071899|NM_004006.3(DMD):c.8745G>A (p.Trp2915Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1071900|NM_004006.3(DMD):c.8491C>T (p.Gln2831Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, multiple submitters, no conflicts|X","1071901|NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, multiple submitters, no conflicts|X","1071902|NM_004006.3(DMD):c.4864G>T (p.Glu1622Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1071903|NM_004006.3(DMD):c.7822G>T (p.Glu2608Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1072046|NM_004006.3(DMD):c.6677G>A (p.Trp2226Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1072085|NC_000023.10:g.(?_31514895)_(31986641_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1072086|NC_000023.10:g.(?_31462578)_(31986651_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1072120|NM_004006.3(DMD):c.2803+5_2803+8del|Microsatellite|Pathogenic|DMD|criteria provided, single submitter|X","1072121|NM_004006.3(DMD):c.2605C>T (p.Gln869Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1072122|NM_004006.3(DMD):c.2521C>T (p.Gln841Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1072123|NM_004006.3(DMD):c.2353C>T (p.Gln785Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, multiple submitters, no conflicts|X","1072167|NM_004006.3(DMD):c.94-2A>C|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1072238|NC_000023.10:g.(?_31745485)_(31893510_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1072239|NC_000023.10:g.(?_31676097)_(31897527_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1072240|NC_000023.10:g.(?_31627738)_(31893500_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1072241|NC_000023.10:g.(?_31838072)_(31854956_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1072276|NM_004006.3(DMD):c.1603-2A>T|single nucleotide variant|Pathogenic|DMD|criteria provided, multiple submitters, no conflicts|X","1072540|NC_000023.10:g.(?_31332523)_(31497240_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1072542|NC_000023.10:g.(?_32613864)_(32717420_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1072543|NC_000023.10:g.(?_32591627)_(32717430_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1072763|NM_004006.3(DMD):c.6254G>A (p.Trp2085Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1072774|NM_004006.3(DMD):c.10642dup (p.Thr3548fs)|Duplication|Pathogenic|DMD|criteria provided, single submitter|X","1072778|NM_004006.3(DMD):c.6913-2A>C|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1072908|NM_004006.3(DMD):c.9415A>T (p.Lys3139Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1072951|NM_004006.3(DMD):c.9624del (p.Ala3209fs)|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1073002|NM_004006.3(DMD):c.2695G>T (p.Glu899Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1073022|NM_004006.3(DMD):c.7449del (p.Asp2484fs)|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1073030|NM_004006.3(DMD):c.790G>T (p.Glu264Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1073291|NC_000023.10:g.(?_32456348)_(32663279_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1073292|NC_000023.10:g.(?_32429859)_32663279del|Deletion|Pathogenic|DMD|criteria provided, single submitter|","1073293|NC_000023.10:g.(?_32398617)_(32663279_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1073294|NC_000023.10:g.(?_32235023)_(32663279_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1073408|NM_004006.3(DMD):c.2917G>T (p.Glu973Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1073606|NC_000023.10:g.(?_32429863)_(32867943_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1073607|NC_000023.10:g.(?_32380895)_(32867947_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1073608|NC_000023.10:g.(?_32235023)_(32867947_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1073609|NC_000023.10:g.(?_32235033)_(32867937_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1073643|NM_004006.3(DMD):c.10224dup (p.Pro3409fs)|Duplication|Pathogenic|DMD|criteria provided, multiple submitters, no conflicts|X","1073681|NM_004006.3(DMD):c.1983dup (p.Thr662fs)|Duplication|Pathogenic|DMD|criteria provided, single submitter|X","1073692|NM_004006.3(DMD):c.2760_2761del (p.Gln920fs)|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1073735|NM_004006.3(DMD):c.6604del (p.Arg2202fs)|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1073854|NM_004006.3(DMD):c.3727_3728del (p.Leu1243fs)|Microsatellite|Pathogenic|DMD|criteria provided, single submitter|X","1073964|NC_000023.10:g.(?_31496203)_(31950364_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X","1074008|NM_004006.3(DMD):c.1961T>A (p.Leu654Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1074009|NM_004006.3(DMD):c.1339A>T (p.Arg447Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1074010|NM_004006.3(DMD):c.1721G>A (p.Trp574Ter)|single nucleotide variant|Pathogenic|DMD|criteria provided, single submitter|X","1074259|NC_000023.10:g.(?_31496213)_(31526364_?)del|Deletion|Pathogenic|DMD|criteria provided, single submitter|X"]}]}