{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":82,"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":["1065491|NM_006015.6(ARID1A):c.175G>T (p.Glu59Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","1120179|NM_006015.6(ARID1A):c.5940_6000del (p.Val1982fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","1177329|NM_006015.6(ARID1A):c.166C>T (p.Gln56Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, multiple submitters, no conflicts|1","1177330|NM_006015.6(ARID1A):c.1708_1766del (p.Pro570fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","1177343|NM_006015.6(ARID1A):c.2914del (p.Asp972fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","1323396|NM_006015.6(ARID1A):c.1850C>A (p.Ser617Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","1323404|NM_006015.6(ARID1A):c.2122C>T (p.Gln708Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","1338402|NM_006015.6(ARID1A):c.666C>G (p.Tyr222Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","1675353|NM_006015.6(ARID1A):c.1642C>T (p.Gln548Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, multiple submitters, no conflicts|1","1693158|NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","1699033|NM_006015.6(ARID1A):c.3058A>T (p.Arg1020Trp)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","1701098|NM_006015.6(ARID1A):c.148_149delinsTA (p.Met50Ter)|Indel|Pathogenic|ARID1A|criteria provided, single submitter|1","1735301|NM_006015.6(ARID1A):c.3826C>T (p.Arg1276Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","1746859|NM_006015.6(ARID1A):c.5329G>T (p.Glu1777Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","1760779|NM_006015.6(ARID1A):c.1251C>G (p.Tyr417Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","2097717|NM_006015.6(ARID1A):c.4563del (p.Ala1522fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","210259|NM_006015.6(ARID1A):c.394del (p.Val132fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","225842|NM_006015.6(ARID1A):c.5965C>T (p.Arg1989Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","225843|NM_006015.6(ARID1A):c.1113del (p.Gln372fs)|Deletion|Pathogenic|ARID1A|no assertion criteria provided|1","225844|NM_006015.6(ARID1A):c.3679G>T (p.Glu1227Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","235660|NM_006015.6(ARID1A):c.1207C>T (p.Gln403Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","2412701|NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","2425459|NC_000001.10:g.(?_27092692)_(27094510_?)del|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","2442347|NM_006015.6(ARID1A):c.1015del (p.Ala339fs)|Deletion|Pathogenic|ARID1A|criteria provided, multiple submitters, no conflicts|1","2443219|NM_006015.6(ARID1A):c.1397del (p.Gly466fs)|Deletion|Pathogenic|ARID1A|no assertion criteria provided|1","2446550|NM_006015.6(ARID1A):c.3185G>T (p.Gly1062Val)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","2576602|NM_006015.6(ARID1A):c.284del (p.Gly95fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","2582238|NM_006015.6(ARID1A):c.511C>T (p.Gln171Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582239|NM_006015.6(ARID1A):c.1813C>T (p.Gln605Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582240|NM_006015.6(ARID1A):c.2434C>T (p.Gln812Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582241|NM_006015.6(ARID1A):c.3988C>T (p.Gln1330Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582242|NM_006015.6(ARID1A):c.4372C>T (p.Gln1458Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582250|NM_006015.6(ARID1A):c.2632C>T (p.Gln878Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582256|NM_006015.6(ARID1A):c.5566C>T (p.Gln1856Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","2582260|NM_006015.6(ARID1A):c.6144G>A (p.Trp2048Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582261|NM_006015.6(ARID1A):c.1210C>T (p.Gln404Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582262|NM_006015.6(ARID1A):c.1585C>T (p.Gln529Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582263|NM_006015.6(ARID1A):c.2008C>T (p.Gln670Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582264|NM_006015.6(ARID1A):c.2272C>T (p.Gln758Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582265|NM_006015.6(ARID1A):c.2323C>T (p.Gln775Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","2582266|NM_006015.6(ARID1A):c.2683C>T (p.Gln895Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582268|NM_006015.6(ARID1A):c.4072C>T (p.Gln1358Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582269|NM_006015.6(ARID1A):c.4258C>T (p.Gln1420Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582270|NM_006015.6(ARID1A):c.4435C>T (p.Gln1479Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582271|NM_006015.6(ARID1A):c.4891C>T (p.Gln1631Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582272|NM_006015.6(ARID1A):c.5058G>A (p.Trp1686Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2582273|NM_006015.6(ARID1A):c.5919G>A (p.Trp1973Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","2633987|NM_006015.6(ARID1A):c.3858_3859insT (p.Arg1287Ter)|Insertion|Pathogenic|ARID1A|no assertion criteria provided|1","2719632|NM_006015.6(ARID1A):c.6207dup (p.Gln2070fs)|Duplication|Pathogenic|ARID1A|criteria provided, single submitter|1","280918|NM_006015.6(ARID1A):c.2988+1G>A|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","30292|NM_006015.6(ARID1A):c.31_56del (p.Ser11fs)|Deletion|Pathogenic|ARID1A|criteria provided, multiple submitters, no conflicts|1","30293|NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","30294|NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","3030106|NM_006015.6(ARID1A):c.5624dup (p.Pro1876fs)|Duplication|Pathogenic|ARID1A|no assertion criteria provided|1","3076211|NM_006015.6(ARID1A):c.476dup (p.Ala160fs)|Duplication|Pathogenic|ARID1A|criteria provided, single submitter|1","3220888|NM_006015.6(ARID1A):c.5229_5230dup (p.Leu1744fs)|Duplication|Pathogenic|ARID1A|criteria provided, single submitter|1","3235938|NM_006015.6(ARID1A):c.1507C>T (p.Gln503Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","3237157|NM_006015.6(ARID1A):c.4582C>T (p.Arg1528Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","3255192|NM_006015.6(ARID1A):c.961C>T (p.Gln321Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","3336944|NM_006015.6(ARID1A):c.4712_4715del (p.Asn1571fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","3721606|NM_006015.6(ARID1A):c.4571_4575dup (p.Val1526fs)|Duplication|Pathogenic|ARID1A|criteria provided, single submitter|1","379359|NM_006015.6(ARID1A):c.1390C>T (p.Gln464Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","3897837|NM_006015.6(ARID1A):c.3092del (p.Thr1031fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","3906955|NM_006015.6(ARID1A):c.5259_5262dup (p.Ser1755delinsValTer)|Duplication|Pathogenic|ARID1A|criteria provided, single submitter|1","4143298|NM_006015.6(ARID1A):c.5591_5592del (p.Glu1864fs)|Microsatellite|Pathogenic|ARID1A|criteria provided, single submitter|1","419853|NM_006015.6(ARID1A):c.5351del (p.Asn1784fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","422806|NM_006015.6(ARID1A):c.5262del (p.Ser1755fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","434335|NM_006015.6(ARID1A):c.921_940del (p.Tyr308fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","434343|NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","451207|NM_006015.6(ARID1A):c.3948_3950delinsCTAGGA (p.Gly1317Ter)|Indel|Pathogenic|ARID1A|criteria provided, single submitter|1","560946|NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, multiple submitters, no conflicts|1","560947|NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs)|Deletion|Pathogenic|ARID1A|criteria provided, multiple submitters, no conflicts|1","623658|NM_006015.6(ARID1A):c.750_771dup (p.Ser258fs)|Duplication|Pathogenic|ARID1A|criteria provided, single submitter|1","812670|NM_006015.6(ARID1A):c.2879-1G>A|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","816871|NM_006015.6(ARID1A):c.5693del (p.Pro1898fs)|Deletion|Pathogenic|ARID1A|criteria provided, single submitter|1","973289|NM_006015.6(ARID1A):c.1602C>A (p.Tyr534Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","975336|NM_006015.6(ARID1A):c.3197_3198insAA (p.Val1067fs)|Insertion|Pathogenic|ARID1A|no assertion criteria provided|1","975337|NM_006015.6(ARID1A):c.3061A>G (p.Lys1021Glu)|single nucleotide variant|Pathogenic|ARID1A|no assertion criteria provided|1","984945|NM_006015.6(ARID1A):c.5531G>A (p.Trp1844Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","986358|NM_006015.6(ARID1A):c.3196C>T (p.Gln1066Ter)|single nucleotide variant|Pathogenic|ARID1A|criteria provided, single submitter|1","998125|NM_006015.6(ARID1A):c.5715del (p.Lys1905fs)|Deletion|Pathogenic|ARID1A|no assertion criteria provided|1","998126|NM_006015.6(ARID1A):c.4689del (p.Pro1563_Met1564insTer)|Deletion|Pathogenic|ARID1A|no assertion criteria provided|1"]}]}