{"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:4827,10,HGNC:4827,178,6]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:4827","source":"HGNC:4827|hemoglobin subunit beta","targets":["1048666|NC_000011.10:g.5224303_5227790del|Deletion|Pathogenic|HBB|no assertion criteria provided|11","1074556|NC_000011.9:g.(?_5247393)_5248785del|Deletion|Pathogenic|HBB|criteria provided, single submitter|","1074558|NC_000011.9:g.(?_5247493)_5248852del|Deletion|Pathogenic|HBB|criteria provided, single submitter|","1074559|NC_000011.9:g.(?_5239576)_5247294del|Deletion|Pathogenic|HBB|criteria provided, single submitter|","1074561|NC_000011.9:g.(?_5246696)_5247105del|Deletion|Pathogenic|HBB|criteria provided, single submitter|","1076533|NC_000011.10:g.5226755_5227283del|Deletion|Pathogenic|HBB|criteria provided, single submitter|11","1189030|NM_000518.5(HBB):c.394_404del (p.Gln132fs)|Deletion|Pathogenic|HBB|no assertion criteria provided|11","1455047|NC_000011.9:g.(?_5145468)_(5247440_?)del|Deletion|Pathogenic|HBB|criteria provided, single submitter|11","1459872|NM_000518.5(HBB):c.380_396del (p.Val127fs)|Deletion|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15060|NC_000011.10:g.5226638_5234052del|Deletion|Pathogenic|HBB|no assertion criteria provided|11","15061|NC_000011.10:g.5226570_5233984del|Deletion|Pathogenic|HBB|criteria provided, single submitter|11","15063|NM_000518.4(HBB):c.-7305_92+16del|Deletion|Pathogenic|HBB|no assertion criteria provided|11","15096|NM_000518.5(HBB):c.435G>C (p.Lys145Asn)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15161|NM_000518.5(HBB):c.79G>A (p.Glu27Lys)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15166|NM_000518.5(HBB):c.71_73del (p.Val24del)|Deletion|Pathogenic|HBB|no assertion criteria provided|11","15183|NM_000518.4(HBB):c.86T>C (p.Leu29Pro)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15190|NM_000518.5(HBB):c.128T>C (p.Phe43Ser)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15208|NM_000518.5(HBB):c.279C>R (p.His93Gln)|single nucleotide variant|Pathogenic|HBB|no assertion criteria provided|11","15230|NM_000518.5(HBB):c.328G>C (p.Val110Leu)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15234|NM_000518.4(HBB):c.92G>C (p.Arg31Thr)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15239|NM_000518.5(HBB):c.82G>T (p.Ala28Ser)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15241|NM_000518.5(HBB):c.295G>A (p.Val99Met)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15250|Hb Little Rock|single nucleotide variant|Pathogenic|HBB|no assertion criteria provided|11","15251|NM_000518.5(HBB):c.127T>C (p.Phe43Leu)|single nucleotide variant|Pathogenic|HBB|no assertion criteria provided|11","15255|NM_000518.4(HBB):c.277C>T (p.His93Tyr)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15256|NM_000518.5(HBB):c.190C>T (p.His64Tyr)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15257|NM_000518.5(HBB):c.346G>C (p.Ala116Pro)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15258|NM_000518.5(HBB):c.59A>G (p.Asn20Ser)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15281|NM_000518.4(HBB):c.25A>G (p.Lys9Glu)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15290|NM_000518.5(HBB):c.404T>A (p.Val135Glu)|single nucleotide variant|Pathogenic|HBB|no assertion criteria provided|11","15308|NM_000518.4(HBB):c.98T>C (p.Leu33Pro)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15311|NM_000518.5(HBB):c.273G>C (p.Glu91Asp)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15322|NM_000518.5(HBB):c.437A>G (p.Tyr146Cys)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15333|NM_000518.5(HBB):c.20A>T (p.Glu7Val)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15338|NM_000518.4(HBB):c.275T>C (p.Leu92Pro)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15342|NM_000518.5(HBB):c.328G>A (p.Val110Met)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15347|NM_000518.4(HBB):c.127T>G (p.Phe43Val)|single nucleotide variant|Pathogenic|HBB|no assertion criteria provided|11","15352|NM_000518.4(HBB):c.332T>C (p.Leu111Pro)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15365|NM_000518.5(HBB):c.431A>C (p.His144Pro)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15378|NM_000518.4(HBB):c.320T>A (p.Leu107Gln)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15386|NM_000518.4(HBB):c.83C>A (p.Ala28Asp)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15395|NM_000518.4(HBB):c.440A>C (p.His147Pro)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15397|NM_000518.4(HBB):c.298G>T (p.Asp100Tyr)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15401|NM_000518.5(HBB):c.52A>T (p.Lys18Ter)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15402|NM_000518.5(HBB):c.118C>T (p.Gln40Ter)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15403|NM_000518.5(HBB):c.47G>A (p.Trp16Ter)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15404|NM_000518.5(HBB):c.364G>T (p.Glu122Ter)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15405|NM_000518.5(HBB):c.114G>A (p.Trp38Ter)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15406|NM_000518.5(HBB):c.130G>T (p.Glu44Ter)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15407|NM_000518.5(HBB):c.184A>T (p.Lys62Ter)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15408|NM_000518.5(HBB):c.108C>A (p.Tyr36Ter)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15409|NM_000518.5(HBB):c.383A>C (p.Gln128Pro)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15410|NM_000518.5(HBB):c.383_385del (p.Gln128_Ala129delinsPro)|Deletion|Pathogenic|HBB|no assertion criteria provided|11","15413|NM_000518.5(HBB):c.25_26del (p.Lys9fs)|Deletion|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15414|NM_000518.5(HBB):c.51del (p.Lys18fs)|Deletion|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15418|NM_000518.5(HBB):c.20del (p.Glu7fs)|Deletion|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15420|NM_000518.5(HBB):c.230del (p.Ala77fs)|Deletion|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15422|NM_000518.5(HBB):c.17_18del (p.Pro6fs)|Deletion|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15423|NM_000518.5(HBB):c.36del (p.Thr13fs)|Deletion|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15425|NM_000518.5(HBB):c.343_344delinsG (p.Leu115fs)|Indel|Pathogenic|HBB|no assertion criteria provided|11","15426|NM_000518.5(HBB):c.45dup (p.Trp16fs)|Duplication|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15427|NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer)|Deletion|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15429|NM_000518.5(HBB):c.194del (p.Gly65fs)|Deletion|Pathogenic|HBB|no assertion criteria provided|11","15431|NM_000518.5(HBB):c.112del (p.Trp38fs)|Deletion|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15432|NM_000518.5(HBB):c.85dup (p.Leu29fs)|Duplication|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15433|NM_000518.5(HBB):c.216dup (p.Ser73Ter)|Duplication|Pathogenic|HBB|no assertion criteria provided|11","15434|NM_000518.5(HBB):c.2T>G (p.Met1Arg)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15436|NM_000518.5(HBB):c.92+1G>A|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15437|NM_000518.5(HBB):c.92+1G>T|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15438|NM_000518.5(HBB):c.315+1G>A|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15441|NM_000518.5(HBB):c.93-17_93-1del|Deletion|Pathogenic|HBB|no assertion criteria provided|11","15442|NM_000518.5(HBB):c.93-22_95del|Deletion|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15446|NM_000518.5(HBB):c.93-1G>A|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15447|NM_000518.5(HBB):c.92+5G>C|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15448|NM_000518.5(HBB):c.92+5G>T|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15449|NM_000518.5(HBB):c.92+5G>A|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15458|NM_000518.5(HBB):c.316-197C>T|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15461|NC_000011.10:g.5227172G>A|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15466|NM_000518.5(HBB):c.-81A>G|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15467|NC_000011.10:g.5227101A>T|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15469|NC_000011.10:g.5227100T>C|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15470|NM_000518.5(HBB):c.-78A>C|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15473|NM_000518.5(HBB):c.*113A>G|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15474|NM_000518.5(HBB):c.*116del|Deletion|Pathogenic|HBB|no assertion criteria provided|11","15475|NM_000518.5(HBB):c.*110_*111insG|Insertion|Pathogenic|HBB|no assertion criteria provided|11","15485|NM_000518.5(HBB):c.143dup (p.Asp48fs)|Duplication|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15488|NM_000518.5(HBB):c.*111A>G|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15494|NM_000518.4(HBB):c.277C>A (p.His93Asn)|single nucleotide variant|Pathogenic|HBB|no assertion criteria provided|11","15504|NM_000518.5(HBB):c.271G>T (p.Glu91Ter)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15508|NM_000518.5(HBB):c.4del (p.Val2fs)|Deletion|Pathogenic|HBB|no assertion criteria provided|11","15512|NM_000518.5(HBB):c.316-1G>C|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15515|NM_000518.5(HBB):c.315+4_315+5del|Deletion|Pathogenic|HBB|no assertion criteria provided|11","15519|NM_000518.5(HBB):c.3G>A (p.Met1Ile)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15526|NM_000518.5(HBB):c.347C>A (p.Ala116Asp)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15532|NM_000518.5(HBB):c.99GGT[1] (p.Val35del)|Microsatellite|Pathogenic|HBB|criteria provided, single submitter|11","15536|NM_000518.4(HBB):c.202G>A (p.Val68Met)|single nucleotide variant|Pathogenic|HBB|criteria provided, multiple submitters, no conflicts|11","15545|NM_000518.4(HBB):c.422C>T (p.Ala141Val)|single nucleotide variant|Pathogenic|HBB|criteria provided, single submitter|11","15551|NM_000518.5(HBB):c.117_118del (p.Gln40fs)|Deletion|Pathogenic|HBB|no assertion criteria provided|11","15554|NM_000518.4(HBB):c.80A>G (p.Glu27Gly)|single nucleotide variant|Pathogenic|HBB|no assertion criteria provided|11","15560|NM_000518.5(HBB):c.217_221delinsT (p.Ser73fs)|Indel|Pathogenic|HBB|no assertion criteria provided|11"]}]}