{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Likely pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":91,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:9884","source":"HGNC:9884|RB transcriptional corepressor 1","targets":["1004646|NM_000321.3(RB1):c.264+5G>A|single nucleotide variant|Likely pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","1064436|NM_000321.3(RB1):c.1331A>C (p.Gln444Pro)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","1066897|NC_000013.11:g.48303714_48303721del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","1067622|NM_000321.3(RB1):c.1199T>C (p.Leu400Pro)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","1067875|NC_000013.10:g.(?_48953724)_(48955585_?)del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","126791|NM_000321.3(RB1):c.1960+5G>A|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","126799|NM_000321.3(RB1):c.2212-13T>A|single nucleotide variant|Likely pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","126836|NM_000321.3(RB1):c.1346G>T (p.Gly449Val)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","13072|NM_000321.3(RB1):c.1700C>T (p.Ser567Leu)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","13085|NM_000321.3(RB1):c.-189G>T|single nucleotide variant|Likely pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","139569|NM_000321.3(RB1):c.1421+12_1421+32del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","1685421|NM_000321.3(RB1):c.381-2A>T|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","1685422|NM_000321.3(RB1):c.2490-1530_*109del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","1698763|NM_000321.3(RB1):c.2279T>C (p.Phe760Ser)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","1764040|NM_000321.3(RB1):c.861+2T>C|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","1786615|NM_000321.3(RB1):c.2143A>T (p.Lys715Ter)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","1792058|NM_000321.3(RB1):c.2490-28T>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","2019837|NM_000321.3(RB1):c.534_539+5del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","2574112|NM_000321.3(RB1):c.402dup (p.Leu135fs)|Duplication|Likely pathogenic|RB1|no assertion criteria provided|13","2585136|NM_000321.3(RB1):c.2325+2T>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","2736025|NM_000321.3(RB1):c.1215+5G>A|single nucleotide variant|Likely pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","2736029|NM_000321.3(RB1):c.1695+5G>A|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","2736035|NM_000321.3(RB1):c.2325+5G>C|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","2843229|NM_000321.3(RB1):c.1389+4A>T|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","2855410|NM_000321.3(RB1):c.2490-1G>C|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","2858090|NM_000321.3(RB1):c.2084T>A (p.Met695Lys)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3000787|NM_000321.3(RB1):c.2325G>T (p.Arg775Ser)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3045281|NM_000321.3(RB1):c.1421+1G>T|single nucleotide variant|Likely pathogenic|RB1|no assertion criteria provided|13","3231181|NM_000321.3(RB1):c.1128-106_1128del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","3236972|NM_000321.3(RB1):c.1331A>T (p.Gln444Leu)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3236978|NM_000321.3(RB1):c.1389+4A>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3236979|NM_000321.3(RB1):c.-197G>C|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3236990|NM_000321.3(RB1):c.1448A>G (p.His483Arg)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3237041|NM_000321.3(RB1):c.-197G>A|single nucleotide variant|Likely pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","3237051|NM_000321.3(RB1):c.1970T>C (p.Leu657Pro)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3237052|NM_000321.3(RB1):c.1985T>C (p.Leu662Pro)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3237063|NM_000321.3(RB1):c.2104C>A (p.Gln702Lys)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3237097|NM_000321.3(RB1):c.-197G>T|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3237102|NM_000321.3(RB1):c.2490-28T>C|single nucleotide variant|Likely pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","3237119|NM_000321.3(RB1):c.-198_-189delinsAA|Indel|Likely pathogenic|RB1|criteria provided, single submitter|13","3244133|NC_000013.10:g.(?_48954291)_(48955599_?)dup|Duplication|Likely pathogenic|RB1|criteria provided, single submitter|13","3340555|NM_000321.2(RB1):c.1815del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","3430846|NM_000321.3(RB1):c.1421+18_1421+38del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","3663254|NM_000321.3(RB1):c.2663G>C (p.Ser888Thr)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3721299|NM_000321.3(RB1):c.862-10T>C|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3722361|NM_000321.3(RB1):c.2520+6T>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3724045|NM_000321.3(RB1):c.138-5_146del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","3724254|NM_000321.3(RB1):c.1695+5G>T|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3780532|NM_000321.3(RB1):c.1215+63T>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3780533|NM_000321.3(RB1):c.1421+20_1421+33del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","3780534|NM_000321.3(RB1):c.1815-11A>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3780535|NM_000321.3(RB1):c.2326-14T>C|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3780536|NM_000321.3(RB1):c.2490-26A>C|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3780537|NM_000321.3(RB1):c.2490-26A>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3780538|NM_000321.3(RB1):c.2490-26A>T|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3780539|NM_000321.3(RB1):c.608-3418A>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3780540|NM_000321.3(RB1):c.861+828T>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3780934|NM_000321.3(RB1):c.-192G>A|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3780935|NM_000321.3(RB1):c.-193T>A|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3780936|NM_000321.3(RB1):c.-198G>T|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","3787240|NM_000321.3(RB1):c.1A>G (p.Met1Val)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","3897860|NM_000321.3(RB1):c.2103delinsAA (p.Asp701fs)|Indel|Likely pathogenic|RB1|criteria provided, single submitter|13","3906173|NM_000321.3(RB1):c.335_341delinsTG (p.Glu112fs)|Indel|Likely pathogenic|RB1|criteria provided, single submitter|13","4056132|NM_000321.3(RB1):c.710_718+5del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","4072292|NM_000321.3(RB1):c.320_336del (p.Ala107fs)|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","4082302|NM_000321.3(RB1):c.1637del (p.Met546fs)|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","4151186|NM_000321.3(RB1):c.939+4A>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","417542|NC_000013.11:g.(?_48379594)_(48381443_?)del|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","421906|NM_000321.3(RB1):c.335_339del (p.Glu112fs)|Microsatellite|Likely pathogenic|RB1|criteria provided, single submitter|13","428698|NM_000321.3(RB1):c.2107-1G>A|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","428701|NM_000321.3(RB1):c.1389+4A>C|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","4530686|NM_000321.3(RB1):c.2161_2165del (p.Phe721fs)|Deletion|Likely pathogenic|RB1|criteria provided, single submitter|13","4531245|NM_000321.3(RB1):c.584G>T (p.Trp195Leu)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","4543959|NM_000321.3(RB1):c.718+4_718+7del|Microsatellite|Likely pathogenic|RB1|criteria provided, single submitter|13","4544143|NM_000321.3(RB1):c.718+5G>A|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","495817|NM_000321.3(RB1):c.1400_1403dup (p.Ser469fs)|Duplication|Likely pathogenic|RB1|criteria provided, single submitter|13","495820|NM_000321.3(RB1):c.1421G>T (p.Ser474Ile)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","572140|NM_000321.3(RB1):c.652T>G (p.Leu218Val)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","579207|NM_000321.3(RB1):c.539+1G>A|single nucleotide variant|Likely pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","635396|NM_000321.3(RB1):c.1389+5G>C|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","635431|NM_000321.3(RB1):c.273T>A (p.Tyr91Ter)|single nucleotide variant|Likely pathogenic|RB1|no assertion criteria provided|13","635473|NM_000321.3(RB1):c.1002del (p.Arg334fs)|Deletion|Likely pathogenic|RB1|no assertion criteria provided|13","635474|NM_000321.3(RB1):c.1696-2A>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","830389|NC_000013.11:g.(?_48452983)_(48465378_?)dup|Duplication|Likely pathogenic|RB1|criteria provided, single submitter|13","831337|NC_000013.11:g.(?_48452979)_(48465378_?)dup|Duplication|Likely pathogenic|RB1|criteria provided, single submitter|13","930577|NM_000321.3(RB1):c.719-2A>T|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","949856|NM_000321.3(RB1):c.2520+4A>G|single nucleotide variant|Likely pathogenic|RB1|criteria provided, multiple submitters, no conflicts|13","958692|NM_000321.3(RB1):c.380G>T (p.Ser127Ile)|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","995884|NM_000321.3(RB1):c.719-1_719delinsAG|Indel|Likely pathogenic|RB1|criteria provided, single submitter|13","995885|NM_000321.3(RB1):c.2520+6T>C|single nucleotide variant|Likely pathogenic|RB1|criteria provided, single submitter|13","995887|NM_000321.3:c.2265_2343delinsAT|Indel|Likely pathogenic|RB1|criteria provided, single submitter|"]}]}