{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Likely pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":51,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:11110","source":"HGNC:11110|AT-rich interaction domain 1A","targets":["1028997|NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","1172645|NM_006015.6(ARID1A):c.4049del (p.Ser1350fs)|Deletion|Likely pathogenic|ARID1A|criteria provided, single submitter|1","1176188|NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, multiple submitters, no conflicts|1","1177344|NM_006015.6(ARID1A):c.3146T>G (p.Leu1049Arg)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","1184821|GRCh37/hg19 1p36.11(chr1:27001498-27110331)x3|copy number gain|Likely pathogenic|ARID1A|no assertion criteria provided|1","1298412|NM_006015.6(ARID1A):c.791C>A (p.Ser264Ter)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","1307168|NM_006015.6(ARID1A):c.4101G>A (p.Gln1367=)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, multiple submitters, no conflicts|1","1314744|NM_006015.6(ARID1A):c.2341A>G (p.Ile781Val)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","1320102|NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, multiple submitters, no conflicts|1","1700160|NM_006015.6(ARID1A):c.3155A>C (p.Tyr1052Ser)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","1703008|NM_006015.6(ARID1A):c.1920+3_1920+6del|Deletion|Likely pathogenic|ARID1A|criteria provided, single submitter|1","1709137|NM_006015.6(ARID1A):c.3898_3899del (p.Met1300fs)|Deletion|Likely pathogenic|ARID1A|criteria provided, single submitter|1","1763814|NM_006015.6(ARID1A):c.854dup (p.Thr286fs)|Duplication|Likely pathogenic|ARID1A|criteria provided, single submitter|1","1767970|NM_006015.6(ARID1A):c.971del (p.Gly324fs)|Deletion|Likely pathogenic|ARID1A|criteria provided, single submitter|1","1803502|NM_006015.6(ARID1A):c.6698G>A (p.Arg2233Gln)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","210260|NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","2442202|NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","2572557|NM_006015.6(ARID1A):c.5903_5904del (p.Cys1968fs)|Microsatellite|Likely pathogenic|ARID1A|criteria provided, single submitter|1","2579522|NM_006015.6(ARID1A):c.3161_3163del (p.Leu1054_Tyr1055delinsHis)|Deletion|Likely pathogenic|ARID1A|criteria provided, single submitter|1","2582556|NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","2634789|NM_006015.6(ARID1A):c.1135C>T (p.Gln379Ter)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","2637152|NM_006015.6(ARID1A):c.6472C>T (p.Arg2158Ter)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","2920687|NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","3256744|NM_006015.6(ARID1A):c.3199-15G>A|single nucleotide variant|Likely pathogenic|ARID1A|no assertion criteria provided|1","3340598|NM_006015.6(ARID1A):c.3406G>A (p.Ala1136Thr)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","3341001|NM_006015.6(ARID1A):c.4643A>C (p.His1548Pro)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","3376314|NM_006015.6(ARID1A):c.88C>T (p.Gln30Ter)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","3376396|NM_006015.6(ARID1A):c.3044G>T (p.Gly1015Val)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","3382678|NM_006015.6(ARID1A):c.3198+2T>A|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","3382747|NM_006015.6(ARID1A):c.5121_5124del (p.Gln1708fs)|Microsatellite|Likely pathogenic|ARID1A|criteria provided, single submitter|1","3392476|NM_006015.6(ARID1A):c.4839_4867del (p.Met1613fs)|Deletion|Likely pathogenic|ARID1A|criteria provided, single submitter|1","3615781|NM_006015.6(ARID1A):c.3977C>T (p.Pro1326Leu)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","3775604|NM_006015.6(ARID1A):c.5474_5475dup (p.Asp1826fs)|Duplication|Likely pathogenic|ARID1A|criteria provided, single submitter|1","3776770|NM_006015.6(ARID1A):c.3155A>G (p.Tyr1052Cys)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","3897603|NM_006015.6(ARID1A):c.3198+5G>A|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, multiple submitters, no conflicts|1","3899469|NM_006015.6(ARID1A):c.3819G>T (p.Met1273Ile)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","4075286|NM_006015.6(ARID1A):c.3198+1del|Deletion|Likely pathogenic|ARID1A|criteria provided, single submitter|1","422284|NM_006015.6(ARID1A):c.6666_6672delinsACATGCAGAAC (p.Phe2223fs)|Indel|Likely pathogenic|ARID1A|criteria provided, single submitter|1","423667|NM_006015.6(ARID1A):c.1920+5G>A|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, multiple submitters, no conflicts|1","427049|NM_006015.6(ARID1A):c.3764G>A (p.Gly1255Glu)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","432033|NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","4680906|NM_006015.6(ARID1A):c.3059G>A (p.Arg1020Lys)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","546575|NM_006015.6(ARID1A):c.6400C>G (p.Leu2134Val)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","559859|NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs)|Duplication|Likely pathogenic|ARID1A|criteria provided, single submitter|1","689740|NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","801462|NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","806101|NM_006015.6(ARID1A):c.6750_6754del (p.Glu2250fs)|Deletion|Likely pathogenic|ARID1A|criteria provided, single submitter|1","917881|NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile)|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","975871|NM_006015.6(ARID1A):c.4102-1G>C|single nucleotide variant|Likely pathogenic|ARID1A|criteria provided, single submitter|1","985412|NM_006015.6(ARID1A):c.5976_5981dup (p.Phe1993_Val1994dup)|Duplication|Likely pathogenic|ARID1A|criteria provided, single submitter|1","988744|NM_006015.6(ARID1A):c.3198+2dup|Duplication|Likely pathogenic|ARID1A|no assertion criteria provided|1"]}]}