{"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:9884,10,HGNC:9884,32,6]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:9884","source":"HGNC:9884|RB transcriptional corepressor 1","targets":["100808|NM_000321.3(RB1):c.1960G>A (p.Val654Met)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1064435|NM_000321.3(RB1):c.1050-8_1050-2del|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1068590|NM_000321.3(RB1):c.1049+2T>A|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","1068629|NM_000321.3(RB1):c.566T>A (p.Leu189Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","1069184|NM_000321.3(RB1):c.1937_1940del (p.Ser646fs)|Microsatellite|Pathogenic|RB1|criteria provided, single submitter|13","1069198|NM_000321.3(RB1):c.1166dup (p.Leu389fs)|Duplication|Pathogenic|RB1|criteria provided, single submitter|13","1069207|NM_000321.3(RB1):c.1237G>T (p.Glu413Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1069507|NM_000321.3(RB1):c.2236G>T (p.Glu746Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1070129|NM_000321.3(RB1):c.1519_1523dup (p.Gly509fs)|Duplication|Pathogenic|RB1|criteria provided, single submitter|13","1070330|NM_000321.3(RB1):c.43_80del (p.Ala15fs)|Deletion|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1070857|NC_000013.10:g.(?_48947531)_(48947691_?)del|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1071013|NC_000013.10:g.(?_48937921)_(48942750_?)del|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1071015|NC_000013.10:g.(?_48881406)_(48955589_?)dup|Duplication|Pathogenic|RB1|criteria provided, single submitter|13","1071048|NM_000321.3(RB1):c.399del (p.Leu134fs)|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1071423|NM_000321.3(RB1):c.1281del (p.Glu428fs)|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1071424|NM_000321.3(RB1):c.1597G>T (p.Glu533Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1071425|NM_000321.3(RB1):c.1332G>A (p.Gln444=)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1071426|NM_000321.3(RB1):c.1422-2A>G|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1071566|NM_000321.3(RB1):c.2536C>T (p.Gln846Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","1072961|NM_000321.3(RB1):c.100G>T (p.Glu34Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","1073217|NM_000321.3(RB1):c.19del (p.Arg7fs)|Deletion|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1073218|NM_000321.3(RB1):c.62dup (p.Ala22fs)|Duplication|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1073219|NM_000321.3(RB1):c.264+1G>T|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","1073220|NM_000321.3(RB1):c.390del (p.Lys130fs)|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1073997|NM_000321.3(RB1):c.46_61GCC[2]GCGGAACCCCAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC[1] (p.Pro21fs)|Microsatellite|Pathogenic|RB1|criteria provided, single submitter|13","1074044|NM_000321.3(RB1):c.1572del (p.Ala525fs)|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1074087|NM_000321.3(RB1):c.2384_2390del (p.Ser795fs)|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1074237|NM_000321.3(RB1):c.2420C>G (p.Ser807Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1074925|NC_000013.10:g.(?_48878039)_(48919345_?)del|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1075188|NM_000321.3(RB1):c.862-1G>C|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","1075812|NC_000013.11:g.48464999_48465023del|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1075814|NM_000321.3(RB1):c.2106+1G>A|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","1075933|NM_000321.3(RB1):c.191T>G (p.Leu64Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1076189|NM_000321.3(RB1):c.377del (p.Ile126fs)|Deletion|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1076417|NM_000321.3(RB1):c.2212-1G>C|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","1076418|NM_000321.3(RB1):c.2663+1G>T|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","1177563|NM_000321.3(RB1):c.856_857insTA (p.Asp286fs)|Insertion|Pathogenic|RB1|criteria provided, single submitter|13","1177565|NM_000321.3(RB1):c.1510del (p.Gln504fs)|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1177566|NM_000321.3(RB1):c.1916dup (p.Lys640fs)|Duplication|Pathogenic|RB1|criteria provided, single submitter|13","1177567|NM_000321.3(RB1):c.768dup (p.Gln257fs)|Duplication|Pathogenic|RB1|criteria provided, single submitter|13","1177568|NM_000321.3(RB1):c.2325+2T>A|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","1177569|NM_000321.3(RB1):c.1031_1034del (p.Gln344fs)|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1177570|NM_000321.3(RB1):c.2034dup (p.Ile679fs)|Duplication|Pathogenic|RB1|criteria provided, single submitter|13","1177571|NM_000321.3(RB1):c.2371_2372insGTGT (p.Lys791fs)|Insertion|Pathogenic|RB1|criteria provided, single submitter|13","1177572|NM_000321.3(RB1):c.2370_2372del (p.Tyr790_Lys791delinsTer)|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","1185020|NM_000321.3(RB1):c.174dup (p.Ala59fs)|Duplication|Pathogenic|RB1|criteria provided, single submitter|13","1197577|NM_000321.3(RB1):c.287del (p.Lys96fs)|Deletion|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126784|NM_000321.3(RB1):c.1723C>T (p.Gln575Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126785|NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126786|NM_000321.3(RB1):c.1738G>T (p.Glu580Ter)|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126787|NG_009009.1:g.154289dupA|Duplication|Pathogenic|RB1|no assertion criteria provided|","126788|NM_000321.3(RB1):c.1909C>T (p.Gln637Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126789|NM_000321.3(RB1):c.1925T>A (p.Leu642Ter)|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126790|NM_000321.3(RB1):c.1927A>G (p.Lys643Glu)|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126792|NM_000321.3(RB1):c.1961-2A>T|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126794|NM_000321.3(RB1):c.2101G>A (p.Asp701Asn)|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126795|NM_000321.3(RB1):c.2107-1G>C|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126796|NM_000321.3(RB1):c.2164A>T (p.Lys722Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","126797|NM_000321.3(RB1):c.2197C>T (p.His733Tyr)|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126798|NM_000321.3(RB1):c.2209G>T (p.Glu737Ter)|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126800|NM_000321.3(RB1):c.2228_2231dup (p.Lys745fs)|Duplication|Pathogenic|RB1|no assertion criteria provided|13","126801|NM_000321.3(RB1):c.2247T>A (p.Tyr749Ter)|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126802|NM_000321.3(RB1):c.2370C>G (p.Tyr790Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","126803|NM_000321.3(RB1):c.2453del (p.Gly818fs)|Deletion|Pathogenic|RB1|no assertion criteria provided|13","126804|NM_000321.3(RB1):c.2490-1G>A|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126805|NM_000321.3(RB1):c.2520+1G>A|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126806|NM_000321.3(RB1):c.2525dup (p.Ser842_Glu843insTer)|Duplication|Pathogenic|RB1|no assertion criteria provided|13","126807|NM_000321.3(RB1):c.2663+2T>C|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","126809|NM_000321.3(RB1):c.305_306del (p.Cys102fs)|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","126810|NM_000321.3(RB1):c.409G>T (p.Glu137Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126811|NM_000321.3(RB1):c.438_441del (p.Asn146fs)|Deletion|Pathogenic|RB1|no assertion criteria provided|13","126812|NM_000321.3(RB1):c.446C>G (p.Ser149Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126813|NM_000321.3(RB1):c.463dup (p.Tyr155fs)|Duplication|Pathogenic|RB1|no assertion criteria provided|13","126814|NM_000321.3(RB1):c.508G>T (p.Glu170Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","126815|NG_009009.1:g.5168-?_5303+?(2)|Variation|Pathogenic|RB1|no assertion criteria provided|","126818|NM_000321.3(RB1):c.103C>T (p.Gln35Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126819|NM_000321.3(RB1):c.113_115delinsCT (p.Gly38fs)|Indel|Pathogenic|RB1|no assertion criteria provided|13","126820|NM_000321.3(RB1):c.763C>T (p.Arg255Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126821|NM_000321.3(RB1):c.795del (p.Lys265fs)|Deletion|Pathogenic|RB1|no assertion criteria provided|13","126822|NM_000321.3(RB1):c.884dup (p.Asn295fs)|Duplication|Pathogenic|RB1|no assertion criteria provided|13","126823|NM_000321.3(RB1):c.937G>T (p.Glu313Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","126824|NM_000321.3(RB1):c.958C>T (p.Arg320Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126825|NM_000321.3(RB1):c.1021A>T (p.Lys341Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","126826|NM_000321.3(RB1):c.1024del (p.Thr342fs)|Deletion|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126828|NM_000321.3(RB1):c.1060_1061del (p.Gln354fs)|Microsatellite|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126830|NM_000321.3(RB1):c.1147dup (p.Gln383fs)|Duplication|Pathogenic|RB1|no assertion criteria provided|13","126831|NM_000321.3(RB1):c.1166T>A (p.Leu389Ter)|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126832|NM_000321.3(RB1):c.1215+1G>A|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126834|NM_000321.3(RB1):c.1332+1G>A|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126835|NM_000321.3(RB1):c.1332+1G>T|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","126837|NM_000321.3(RB1):c.1363C>T (p.Arg455Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126838|NM_000321.3(RB1):c.1456_1457del (p.Leu486fs)|Deletion|Pathogenic|RB1|criteria provided, single submitter|13","126840|NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)|single nucleotide variant|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126841|NM_000321.3(RB1):c.1688G>A (p.Trp563Ter)|single nucleotide variant|Pathogenic|RB1|no assertion criteria provided|13","126842|NM_000321.3(RB1):c.1695+1G>A|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13","126843|NM_000321.3(RB1):c.217del (p.Arg73fs)|Deletion|Pathogenic|RB1|no assertion criteria provided|13","126844|NM_000321.3(RB1):c.219_220del (p.Arg73fs)|Microsatellite|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126845|NM_000321.3(RB1):c.227_228dup (p.Thr77Ter)|Duplication|Pathogenic|RB1|no assertion criteria provided|13","13069|NM_000321.3(RB1):c.2520+1del|Deletion|Pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","13070|NM_000321.3(RB1):c.1960+2T>C|single nucleotide variant|Pathogenic|RB1|criteria provided, single submitter|13"]}]}