{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":3,"total":298,"mapped":3},"pagination":{"has_next":true,"next_token":"-1[]HGNC:13446,10,HGNC:13446,69,1][HGNC:17989,10,HGNC:17989,75,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"ABCG2","source":"HGNC:74|ATP binding cassette subfamily G member 2 (JR blood group)","targets":["1236609|NM_004827.3(ABCG2):c.-20+6341T>G|single nucleotide variant|Benign|ABCG2|criteria provided, single submitter|4","1239257|NM_004827.3(ABCG2):c.1277+2227G>A|single nucleotide variant|Benign|ABCG2|criteria provided, single submitter|4","1251382|NC_000004.12:g.88089831A>G|single nucleotide variant|Benign|ABCG2|criteria provided, single submitter|4","1265403|NM_004827.3(ABCG2):c.1195-834T>G|single nucleotide variant|Benign|ABCG2|criteria provided, single submitter|4","1267736|NM_004827.3(ABCG2):c.1277+1908T>G|single nucleotide variant|Benign|ABCG2|criteria provided, single submitter|4","1341211|GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1|copy number loss|Pathogenic|ABCG2|no assertion criteria provided|4","144779|GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3|copy number gain|Uncertain significance|ABCG2|no assertion criteria provided|4","145649|GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1|copy number loss|Pathogenic|ABCG2|no assertion criteria provided|4","148194|GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1|copy number loss|Pathogenic|ABCG2|no assertion criteria provided|4","1527097|GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)|copy number gain|Pathogenic|ABCG2|criteria provided, single submitter|4","1527100|GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)|copy number loss|Pathogenic|ABCG2|criteria provided, single submitter|4","1527103|GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)|copy number loss|Pathogenic|ABCG2|criteria provided, single submitter|4","1527108|GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)|copy number loss|Pathogenic|ABCG2|criteria provided, single submitter|4","152923|GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1|copy number loss|Pathogenic|ABCG2|no assertion criteria provided|4","1737464|NM_004827.3(ABCG2):c.405G>A (p.Thr135=)|single nucleotide variant|Likely benign|ABCG2|criteria provided, single submitter|4","2224669|NM_004827.3(ABCG2):c.1891G>A (p.Val631Met)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","2267114|NM_004827.3(ABCG2):c.1135T>C (p.Trp379Arg)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","2284990|NM_004827.3(ABCG2):c.115T>G (p.Phe39Val)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","2310874|NM_004827.3(ABCG2):c.1777C>T (p.Pro593Ser)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","2316403|NM_004827.3(ABCG2):c.869C>G (p.Pro290Arg)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","2319477|NM_004827.3(ABCG2):c.1255G>T (p.Asp419Tyr)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","2337768|NM_004827.3(ABCG2):c.1541T>C (p.Met514Thr)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","2395034|NM_004827.3(ABCG2):c.791T>G (p.Leu264Arg)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","2467211|NM_004827.3(ABCG2):c.1178A>G (p.Gln393Arg)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","2475371|NM_004827.3(ABCG2):c.904T>C (p.Ser302Pro)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","2498966|GRCh37/hg19 4q22.1(chr4:88344058-89061168)x1|copy number loss|Pathogenic|ABCG2|criteria provided, single submitter|4","2531314|NM_004827.3(ABCG2):c.1310A>G (p.Gln437Arg)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","2579270|GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1|copy number loss|Pathogenic|ABCG2|criteria provided, single submitter|4","30383|NM_004827.3(ABCG2):c.736C>T (p.Arg246Ter)|single nucleotide variant|Affects|ABCG2|no assertion criteria provided|4","30384|NM_004827.3(ABCG2):c.1111_1112del (p.Thr371fs)|Deletion|Affects|ABCG2|no assertion criteria provided|4","30385|NM_004827.3(ABCG2):c.376C>T (p.Gln126Ter)|single nucleotide variant|association|ABCG2|no assertion criteria provided|4","30386|NM_004827.3(ABCG2):c.34G>A (p.Val12Met)|single nucleotide variant|Likely benign; Affects; association|ABCG2|no assertion criteria provided|4","30387|NM_004827.3(ABCG2):c.706C>T (p.Arg236Ter)|single nucleotide variant|association|ABCG2|no assertion criteria provided|4","30388|NM_004827.3(ABCG2):c.791_792del (p.Leu264fs)|Deletion|Conflicting classifications of pathogenicity|ABCG2|criteria provided, conflicting classifications|4","30389|NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys)|single nucleotide variant|drug response|ABCG2|reviewed by expert panel|4","3041649|NM_004827.3(ABCG2):c.1582G>A (p.Ala528Thr)|single nucleotide variant|Likely benign|ABCG2|no assertion criteria provided|4","3044880|NM_004827.3(ABCG2):c.1060G>A (p.Gly354Arg)|single nucleotide variant|Likely benign|ABCG2|no assertion criteria provided|4","3057392|NM_004827.3(ABCG2):c.841+3A>G|single nucleotide variant|Likely benign|ABCG2|no assertion criteria provided|4","3059818|NM_004827.3(ABCG2):c.263+10A>G|single nucleotide variant|Benign|ABCG2|no assertion criteria provided|4","3062760|GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3|copy number gain|Likely pathogenic|ABCG2|criteria provided, single submitter|4","3062764|GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1|copy number loss|Pathogenic|ABCG2|criteria provided, single submitter|4","3129600|NM_004827.3(ABCG2):c.1195A>T (p.Ile399Phe)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3129609|NM_004827.3(ABCG2):c.1453C>A (p.Pro485Thr)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3129615|NM_004827.3(ABCG2):c.1535C>G (p.Thr512Ser)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3129624|NM_004827.3(ABCG2):c.1567A>T (p.Met523Leu)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3129633|NM_004827.3(ABCG2):c.1948T>C (p.Phe650Leu)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3129639|NM_004827.3(ABCG2):c.1961A>G (p.Tyr654Cys)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3129641|NM_004827.3(ABCG2):c.449C>G (p.Thr150Arg)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3129645|NM_004827.3(ABCG2):c.765C>A (p.Ser255Arg)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3129652|NM_004827.3(ABCG2):c.867C>A (p.Asn289Lys)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3129659|NM_004827.3(ABCG2):c.972G>T (p.Gln324His)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3246698|NC_000004.11:g.(?_88532061)_(89190078_?)dup|Duplication|Uncertain significance|ABCG2|criteria provided, single submitter|4","3308591|NM_004827.3(ABCG2):c.1346T>C (p.Val449Ala)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3308701|NM_004827.3(ABCG2):c.1115C>A (p.Ser372Tyr)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3412715|NM_004827.3(ABCG2):c.1537C>G (p.Leu513Val)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3412804|NM_004827.3(ABCG2):c.1645A>T (p.Met549Leu)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3412894|NM_004827.3(ABCG2):c.1442T>A (p.Met481Lys)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3412991|NM_004827.3(ABCG2):c.208A>T (p.Ile70Phe)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3413062|NM_004827.3(ABCG2):c.719T>A (p.Phe240Tyr)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","394976|GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1|copy number loss|Pathogenic|ABCG2|no assertion criteria provided|4","3992260|NM_004827.3(ABCG2):c.1519T>G (p.Phe507Val)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3992271|NM_004827.3(ABCG2):c.935A>G (p.Asp312Gly)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3992281|NM_004827.3(ABCG2):c.1514C>G (p.Ala505Gly)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","3992289|NM_004827.3(ABCG2):c.613T>C (p.Ser205Pro)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","4144541|NM_004827.3(ABCG2):c.1724G>A (p.Arg575Gln)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","4144633|NM_004827.3(ABCG2):c.1736C>T (p.Thr579Met)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","4144727|NM_004827.3(ABCG2):c.1244G>A (p.Gly415Glu)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","4144806|NM_004827.3(ABCG2):c.1333G>T (p.Val445Leu)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","4144902|NM_004827.3(ABCG2):c.295C>G (p.Pro99Ala)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","4288810|NM_004827.3(ABCG2):c.842-20del|Deletion||ABCG2||4","4308948|NM_004827.3(ABCG2):c.*1171G>T|single nucleotide variant||ABCG2||4","4308949|NM_004827.3(ABCG2):c.1768A>T (p.Asn590Tyr)|single nucleotide variant||ABCG2||4","4308950|NM_004827.3(ABCG2):c.1738-1G>A|single nucleotide variant||ABCG2||4","4308951|NM_004827.3(ABCG2):c.1368-1G>T|single nucleotide variant||ABCG2||4","4308954|NM_004827.3(ABCG2):c.1195-2A>G|single nucleotide variant||ABCG2||4","4308955|NM_004827.3(ABCG2):c.841+5G>A|single nucleotide variant||ABCG2||4","4308956|NM_004827.3(ABCG2):c.778G>T (p.Ala260Ser)|single nucleotide variant||ABCG2||4","4308957|NM_004827.3(ABCG2):c.760G>T (p.Asp254Tyr)|single nucleotide variant||ABCG2||4","4308958|NM_004827.3(ABCG2):c.751A>T (p.Lys251Ter)|single nucleotide variant||ABCG2||4","4308959|NM_004827.3(ABCG2):c.690-172A>G|single nucleotide variant||ABCG2||4","4308961|NM_004827.3(ABCG2):c.531+97A>G|single nucleotide variant||ABCG2||4","4308962|NM_004827.3(ABCG2):c.264-1G>T|single nucleotide variant||ABCG2||4","4308963|NM_004827.3(ABCG2):c.239G>T (p.Gly80Val)|single nucleotide variant||ABCG2||4","4308965|NM_004827.3(ABCG2):c.-2A>T|single nucleotide variant||ABCG2||4","4308966|NM_004827.3(ABCG2):c.-214C>G|single nucleotide variant||ABCG2||4","4533545|NM_004827.3(ABCG2):c.211A>G (p.Met71Val)|single nucleotide variant|Likely benign|ABCG2|criteria provided, single submitter|4","4636266|NM_004827.3(ABCG2):c.1934A>G (p.Tyr645Cys)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","4636267|NM_004827.3(ABCG2):c.1627A>G (p.Ile543Val)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","4636268|NM_004827.3(ABCG2):c.554G>C (p.Gly185Ala)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","4636269|NM_004827.3(ABCG2):c.1222G>C (p.Val408Leu)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4","522888|NM_004827.3(ABCG2):c.419del (p.Leu140fs)|Deletion|Uncertain significance|ABCG2|criteria provided, single submitter|4","562937|GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1|copy number loss|Pathogenic|ABCG2|no assertion criteria provided|4","562942|GRCh37/hg19 4q21.3-22.1(chr4:87984263-89193590)x3|copy number gain|Uncertain significance|ABCG2|no assertion criteria provided|4","59455|GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1|copy number loss|Pathogenic|ABCG2|criteria provided, single submitter|4","782442|NM_004827.3(ABCG2):c.204-3C>T|single nucleotide variant|Benign|ABCG2|criteria provided, single submitter|4","787808|NM_004827.3(ABCG2):c.369C>T (p.Tyr123=)|single nucleotide variant|Benign|ABCG2|criteria provided, multiple submitters, no conflicts|4","976807|Single allele|Deletion|Pathogenic|ABCG2|criteria provided, single submitter|4","981814|NM_004827.3(ABCG2):c.802G>A (p.Gly268Arg)|single nucleotide variant|Uncertain significance|ABCG2|criteria provided, single submitter|4"]},{"input":"SLC2A9","source":"HGNC:13446|solute carrier family 2 member 9","targets":["1001841|NM_020041.3(SLC2A9):c.1511A>T (p.Asn504Ile)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1016658|NM_020041.3(SLC2A9):c.1386C>G (p.Asn462Lys)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1017579|NM_020041.3(SLC2A9):c.538G>A (p.Val180Ile)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1027407|NM_020041.3(SLC2A9):c.593G>A (p.Arg198His)|single nucleotide variant|Pathogenic|SLC2A9|no assertion criteria provided|4","1046785|NM_020041.3(SLC2A9):c.713T>C (p.Ile238Thr)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1049499|NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|SLC2A9|criteria provided, conflicting classifications|4","1080022|NM_020041.3(SLC2A9):c.1344G>A (p.Pro448=)|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1096161|NM_020041.3(SLC2A9):c.726C>T (p.Ala242=)|single nucleotide variant|Likely benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1106602|NM_020041.3(SLC2A9):c.795C>T (p.Asn265=)|single nucleotide variant|Likely benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1151314|NM_020041.3(SLC2A9):c.1114-29CT[8]|Microsatellite|Likely benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1165550|NM_020041.3(SLC2A9):c.1420-19del|Deletion|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1178833|NM_020041.3(SLC2A9):c.410+261G>A|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1183882|NM_001001290.2(SLC2A9):c.64-2531T>C|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1206898|NM_020041.3(SLC2A9):c.1114-89G>C|single nucleotide variant|Likely benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1214256|NM_020041.3(SLC2A9):c.1420-167C>T|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1224284|NM_020041.3(SLC2A9):c.1419+139A>G|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1230669|NM_020041.3(SLC2A9):c.410+29G>T|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1234341|NM_001001290.2(SLC2A9):c.-40-339A>T|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1235811|NM_020041.3(SLC2A9):c.1292-292_1292-291del|Deletion|Benign|SLC2A9|criteria provided, single submitter|4","1238782|NM_020041.3(SLC2A9):c.681+187T>C|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1247507|NM_020041.3(SLC2A9):c.1291+149A>G|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1247999|NM_020041.3(SLC2A9):c.250-40A>G|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1249479|NM_020041.3(SLC2A9):c.1291+122G>A|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1250763|NM_020041.3(SLC2A9):c.1215+132A>G|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1250812|NM_001001290.2(SLC2A9):c.63+18del|Deletion|Benign|SLC2A9|criteria provided, single submitter|4","1253416|NM_001001290.2(SLC2A9):c.-40-13T>C|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1258679|NM_020041.3(SLC2A9):c.1215+173G>T|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1261288|NM_020041.3(SLC2A9):c.1419+315C>T|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1261645|NM_020041.3(SLC2A9):c.681+219C>T|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1265368|NM_020041.3(SLC2A9):c.410+187_410+191dup|Duplication|Benign|SLC2A9|criteria provided, single submitter|4","1266845|NM_001001290.2(SLC2A9):c.49G>A (p.Ala17Thr)|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1269592|NM_001001290.2(SLC2A9):c.64-2751G>A|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1270680|NM_020041.3(SLC2A9):c.1002+78A>G|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1271487|NM_001001290.2(SLC2A9):c.-40-114C>T|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1273018|NM_020041.3(SLC2A9):c.1420-260A>G|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1273960|NM_020041.3(SLC2A9):c.1216-182C>T|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1275932|NM_020041.3(SLC2A9):c.535+67A>G|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1276340|NM_001001290.2(SLC2A9):c.64-2604del|Deletion|Benign|SLC2A9|criteria provided, single submitter|4","1277178|NM_020041.3(SLC2A9):c.1291+197G>A|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1279552|NM_020041.3(SLC2A9):c.1113+300A>C|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1282058|NM_020041.3(SLC2A9):c.681+266G>A|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1282636|NM_001001290.2(SLC2A9):c.63+174G>C|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1283080|NM_020041.3(SLC2A9):c.1292-229A>T|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1286295|NM_020041.3(SLC2A9):c.411-250A>C|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1286585|NM_020041.3(SLC2A9):c.1003-166_1003-159del|Deletion|Benign|SLC2A9|criteria provided, single submitter|4","1287173|NM_020041.3(SLC2A9):c.681+25G>A|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1287605|NM_020041.3(SLC2A9):c.1003-216TA[4]|Microsatellite|Benign|SLC2A9|criteria provided, single submitter|4","1287628|NM_020041.3(SLC2A9):c.1420-278G>A|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1287890|NM_020041.3(SLC2A9):c.1216-221C>T|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1290264|NM_020041.3(SLC2A9):c.411-305C>T|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1291758|NM_020041.3(SLC2A9):c.682-31C>T|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1295132|NM_020041.3(SLC2A9):c.681+172T>G|single nucleotide variant|Benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1329560|NM_020041.3(SLC2A9):c.1215+95T>C|single nucleotide variant|Likely benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1350061|NM_020041.3(SLC2A9):c.1459A>G (p.Ile487Val)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1359926|NM_020041.3(SLC2A9):c.770G>T (p.Arg257Leu)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1381478|NM_020041.3(SLC2A9):c.769C>T (p.Arg257Cys)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1388422|NM_020041.3(SLC2A9):c.1184T>C (p.Phe395Ser)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1422868|NM_020041.3(SLC2A9):c.599C>T (p.Ser200Phe)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1449188|NC_000004.11:g.(?_9828021)_(9828244_?)dup|Duplication|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1450377|NC_000004.11:g.(?_9828021)_(10090385_?)dup|Duplication|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1504763|NM_020041.3(SLC2A9):c.1518C>G (p.Thr506=)|single nucleotide variant|Conflicting classifications of pathogenicity|SLC2A9|criteria provided, conflicting classifications|4","1523026|NM_020041.3(SLC2A9):c.1139G>A (p.Arg380Gln)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1527075|GRCh37/hg19 4p16.1(chr4:9865042-10320833)|copy number gain|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1530542|NM_020041.3(SLC2A9):c.536-18T>A|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1559795|NM_020041.3(SLC2A9):c.864G>A (p.Glu288=)|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1599340|NM_020041.3(SLC2A9):c.1050G>A (p.Pro350=)|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1643942|NM_020041.3(SLC2A9):c.825G>A (p.Thr275=)|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1651490|NM_020041.3(SLC2A9):c.1419+16del|Deletion|Likely benign|SLC2A9|criteria provided, single submitter|4","1653744|NM_020041.3(SLC2A9):c.1002+11G>A|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1661310|NM_020041.3(SLC2A9):c.1002+16C>T|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1665070|NM_020041.3(SLC2A9):c.1215+7C>T|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1697108|NM_020041.3(SLC2A9):c.410+211C>T|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1801446|NM_020041.3(SLC2A9):c.682-8847_682-8846insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT|Insertion|Uncertain significance|SLC2A9|no assertion criteria provided|4","1879601|NM_020041.3(SLC2A9):c.1035del (p.Ala346fs)|Deletion|Likely pathogenic|SLC2A9|criteria provided, single submitter|4","1897759|NM_020041.3(SLC2A9):c.403C>A (p.Leu135Ile)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1901385|NM_020041.3(SLC2A9):c.546C>T (p.Leu182=)|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1901914|NM_020041.3(SLC2A9):c.535+19G>A|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1917079|NM_020041.3(SLC2A9):c.1383C>T (p.Ser461=)|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1917981|NM_020041.3(SLC2A9):c.1385A>G (p.Asn462Ser)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1918944|NM_020041.3(SLC2A9):c.540C>T (p.Val180=)|single nucleotide variant|Likely benign|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1920859|NM_020041.3(SLC2A9):c.1114-19C>T|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1928845|NM_020041.3(SLC2A9):c.1339C>T (p.Arg447Trp)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1938288|NM_020041.3(SLC2A9):c.567T>A (p.Leu189=)|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1970760|NM_020041.3(SLC2A9):c.625A>T (p.Ile209Phe)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","1979732|NM_020041.3(SLC2A9):c.431A>G (p.Asn144Ser)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, multiple submitters, no conflicts|4","1986558|NM_020041.3(SLC2A9):c.802A>C (p.Arg268=)|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1987243|NM_020041.3(SLC2A9):c.1113+16G>A|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","1988900|NM_020041.3(SLC2A9):c.815-18G>A|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","1993438|NM_020041.3(SLC2A9):c.1255A>G (p.Ile419Val)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","2020131|NM_020041.3(SLC2A9):c.168C>T (p.Leu56=)|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","2022714|NM_020041.3(SLC2A9):c.411-19A>T|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","2035711|NM_020041.3(SLC2A9):c.536-7T>C|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","2050846|NM_020041.3(SLC2A9):c.1215+8G>A|single nucleotide variant|Benign|SLC2A9|criteria provided, single submitter|4","2069944|NM_020041.3(SLC2A9):c.1369G>A (p.Val457Ile)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, multiple submitters, no conflicts|4","2076725|NM_020041.3(SLC2A9):c.832G>A (p.Gly278Ser)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4","2080711|NM_020041.3(SLC2A9):c.1291+9C>T|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","2082462|NM_020041.3(SLC2A9):c.445A>G (p.Ile149Val)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, multiple submitters, no conflicts|4","2106755|NM_020041.3(SLC2A9):c.411-14T>C|single nucleotide variant|Likely benign|SLC2A9|criteria provided, single submitter|4","2113538|NM_020041.3(SLC2A9):c.372dup (p.Thr125fs)|Duplication|Pathogenic|SLC2A9|criteria provided, single submitter|4","2127191|NM_020041.3(SLC2A9):c.422T>C (p.Leu141Ser)|single nucleotide variant|Uncertain significance|SLC2A9|criteria provided, single submitter|4"]},{"input":"SLC22A12","source":"HGNC:17989|solute carrier family 22 member 12","targets":["1027747|NM_144585.4(SLC22A12):c.334G>A (p.Asp112Asn)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1034758|NM_144585.4(SLC22A12):c.391A>G (p.Ile131Val)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1086256|NM_144585.4(SLC22A12):c.679G>A (p.Ala227Thr)|single nucleotide variant|Conflicting classifications of pathogenicity|SLC22A12|criteria provided, conflicting classifications|11","1116125|NM_144585.4(SLC22A12):c.1607_1624dup (p.Lys536_Gly541dup)|Duplication|Likely benign|SLC22A12|criteria provided, single submitter|11","1120435|NM_144585.4(SLC22A12):c.1024C>T (p.Arg342Cys)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1152236|NM_144585.4(SLC22A12):c.662-7C>T|single nucleotide variant|Likely benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1165080|NM_144585.4(SLC22A12):c.1598+18C>T|single nucleotide variant|Benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1166094|NM_144585.4(SLC22A12):c.661+20C>T|single nucleotide variant|Benign/Likely benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1168756|NM_144585.4(SLC22A12):c.1428C>T (p.Ala476=)|single nucleotide variant|Benign/Likely benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1175521|NM_144585.4(SLC22A12):c.1071-34A>C|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1177306|NM_144585.4(SLC22A12):c.412G>C (p.Val138Leu)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1177307|NM_144585.4(SLC22A12):c.502G>A (p.Asp168Asn)|single nucleotide variant|Pathogenic|SLC22A12|no assertion criteria provided|11","1189385|NM_144585.4(SLC22A12):c.1599-17G>C|single nucleotide variant|Benign/Likely benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1212845|NM_144585.4(SLC22A12):c.1071-42_1071-41insCA|Insertion|Likely benign|SLC22A12|criteria provided, single submitter|11","1219878|NC_000011.10:g.64590628G>A|single nucleotide variant|Likely benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1219954|NM_144585.4(SLC22A12):c.1598+254C>A|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1222614|NM_144585.4(SLC22A12):c.831-45T>C|single nucleotide variant|Benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1229103|NM_144585.4(SLC22A12):c.507-248C>T|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1229645|NM_144585.4(SLC22A12):c.402+197C>T|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1230824|NM_144585.4(SLC22A12):c.1285+65C>G|single nucleotide variant|Benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1231943|NM_144585.4(SLC22A12):c.403-237T>C|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1232745|NM_144585.4(SLC22A12):c.1071-42del|Deletion|Benign|SLC22A12|criteria provided, single submitter|11","1233536|NM_144585.4(SLC22A12):c.507-254G>A|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1241550|NM_144585.4(SLC22A12):c.1286-188G>A|single nucleotide variant|Benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1243017|NM_144585.4(SLC22A12):c.507-247G>A|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1252221|NM_144585.4(SLC22A12):c.1070+134G>C|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1258617|NM_144585.4(SLC22A12):c.1071-33C>T|single nucleotide variant|Benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1262572|NM_144585.4(SLC22A12):c.1286-103A>G|single nucleotide variant|Benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1271610|NC_000011.10:g.64590769A>T|single nucleotide variant|Benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1279522|NM_144585.4(SLC22A12):c.1071-42_1071-41insCCA|Insertion|Benign|SLC22A12|criteria provided, single submitter|11","1282591|NM_144585.4(SLC22A12):c.1070+224A>G|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1290659|NM_144585.4(SLC22A12):c.1598+260G>C|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1294877|NM_144585.4(SLC22A12):c.831-320C>A|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1294888|NM_144585.4(SLC22A12):c.830+109G>T|single nucleotide variant|Benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1294898|NM_144585.4(SLC22A12):c.1071-98A>G|single nucleotide variant|Benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1294945|NM_144585.4(SLC22A12):c.831-192C>A|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1294995|NM_144585.4(SLC22A12):c.507-172C>T|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","1296823|NC_000011.10:g.64590793C>T|single nucleotide variant|Benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1296824|NM_144585.4(SLC22A12):c.1285+227A>G|single nucleotide variant|Benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1300570|NM_144585.4(SLC22A12):c.1071-42dup|Duplication|Benign|SLC22A12|criteria provided, single submitter|11","1315493|NM_144585.4(SLC22A12):c.85A>G (p.Met29Val)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1350378|NM_144585.4(SLC22A12):c.973C>T (p.Arg325Trp)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1351513|NM_144585.4(SLC22A12):c.1534G>A (p.Ala512Thr)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1356316|NM_144585.4(SLC22A12):c.743del (p.Thr248fs)|Deletion|Pathogenic|SLC22A12|criteria provided, single submitter|11","1358727|NM_144585.4(SLC22A12):c.408C>A (p.Asn136Lys)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1376824|NC_000011.9:g.(?_64367819)_(64369023_?)del|Deletion|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1386260|NM_144585.4(SLC22A12):c.797C>T (p.Ser266Leu)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1388693|NM_144585.4(SLC22A12):c.476G>A (p.Gly159Glu)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1397626|NM_144585.4(SLC22A12):c.700A>G (p.Met234Val)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1400508|NM_144585.4(SLC22A12):c.880T>G (p.Trp294Gly)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1403071|NM_144585.4(SLC22A12):c.1096G>A (p.Gly366Ser)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1424241|NM_144585.4(SLC22A12):c.1453C>G (p.Leu485Val)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1459519|NC_000011.9:g.(?_64359029)_(64359450_?)del|Deletion|Pathogenic|SLC22A12|criteria provided, single submitter|11","1468772|NM_144585.4(SLC22A12):c.802C>T (p.Pro268Ser)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1483073|NM_144585.4(SLC22A12):c.587T>G (p.Phe196Cys)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1485008|NM_144585.4(SLC22A12):c.1039C>T (p.Arg347Cys)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1515855|NM_144585.4(SLC22A12):c.507-8_511del|Deletion|Likely pathogenic|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1520083|NM_144585.4(SLC22A12):c.1376T>G (p.Leu459Arg)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1530092|NM_144585.4(SLC22A12):c.12T>C (p.Ser4=)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1551359|NM_144585.4(SLC22A12):c.1311G>A (p.Leu437=)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1572105|NM_144585.4(SLC22A12):c.336C>T (p.Asp112=)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1600848|NM_144585.4(SLC22A12):c.1599-17G>A|single nucleotide variant|Benign/Likely benign|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1630195|NM_144585.4(SLC22A12):c.955-11C>T|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1633209|NM_144585.4(SLC22A12):c.955-19C>T|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1637834|NM_144585.4(SLC22A12):c.1464G>T (p.Leu488=)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1647954|NM_144585.4(SLC22A12):c.591C>G (p.Pro197=)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1661000|NM_144585.4(SLC22A12):c.729C>T (p.Phe243=)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1803516|NM_144585.4(SLC22A12):c.220G>T (p.Ala74Ser)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1896081|NM_144585.4(SLC22A12):c.1459C>T (p.Arg487Trp)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1900424|NM_144585.4(SLC22A12):c.845C>T (p.Ser282Leu)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1907112|NM_144585.4(SLC22A12):c.789G>C (p.Leu263=)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1908660|NM_144585.4(SLC22A12):c.759C>T (p.Tyr253=)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1908832|NM_144585.4(SLC22A12):c.1217G>A (p.Arg406His)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1908931|NM_144585.4(SLC22A12):c.1070G>A (p.Trp357Ter)|single nucleotide variant|Pathogenic/Likely pathogenic|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1912884|NM_144585.4(SLC22A12):c.236C>A (p.Pro79Gln)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1913993|NM_144585.4(SLC22A12):c.723C>G (p.Phe241Leu)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1919630|NM_144585.4(SLC22A12):c.918C>T (p.Asn306=)|single nucleotide variant|Conflicting classifications of pathogenicity|SLC22A12|criteria provided, conflicting classifications|11","1924045|NM_144585.4(SLC22A12):c.268C>T (p.Arg90Cys)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1924978|NM_144585.4(SLC22A12):c.142C>T (p.Arg48Cys)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1936806|NM_144585.4(SLC22A12):c.65T>C (p.Met22Thr)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1944336|NM_144585.4(SLC22A12):c.846G>A (p.Ser282=)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1953878|NM_144585.4(SLC22A12):c.993C>T (p.Gly331=)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1956505|NM_144585.4(SLC22A12):c.62C>A (p.Thr21Lys)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","1973225|NM_144585.4(SLC22A12):c.507-5C>T|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1976889|NM_144585.4(SLC22A12):c.1464G>A (p.Leu488=)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","1977850|NM_144585.4(SLC22A12):c.814T>C (p.Cys272Arg)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","1983955|NM_144585.4(SLC22A12):c.371G>A (p.Arg124His)|single nucleotide variant|Conflicting classifications of pathogenicity|SLC22A12|criteria provided, conflicting classifications|11","1989037|NM_144585.4(SLC22A12):c.661+18C>T|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","2001590|NM_144585.4(SLC22A12):c.1070+15C>T|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","2004692|NM_144585.4(SLC22A12):c.279G>A (p.Gln93=)|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11","2044689|NM_144585.4(SLC22A12):c.126C>T (p.Ala42=)|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","2056246|NM_144585.4(SLC22A12):c.431T>C (p.Leu144Pro)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","2059357|NM_144585.4(SLC22A12):c.1224G>A (p.Thr408=)|single nucleotide variant|Benign|SLC22A12|criteria provided, single submitter|11","2065819|NM_144585.4(SLC22A12):c.1300C>T (p.Arg434Cys)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","2069425|NM_144585.4(SLC22A12):c.766C>T (p.Arg256Trp)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","2070984|NM_144585.4(SLC22A12):c.1285G>A (p.Glu429Lys)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","2078054|NM_144585.4(SLC22A12):c.851G>A (p.Arg284Gln)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","2083596|NM_144585.4(SLC22A12):c.1118C>T (p.Ala373Val)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, multiple submitters, no conflicts|11","2113963|NM_144585.4(SLC22A12):c.580C>T (p.Pro194Ser)|single nucleotide variant|Uncertain significance|SLC22A12|criteria provided, single submitter|11","2119638|NM_144585.4(SLC22A12):c.506+8C>A|single nucleotide variant|Likely benign|SLC22A12|criteria provided, single submitter|11"]}]}