{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":4,"total":390,"mapped":5},"pagination":{"has_next":true,"next_token":"-1[]HGNC:3690,10,HGNC:3690,78,0][HGNC:15979,10,HGNC:15979,131,2][HGNC:13447,10,HGNC:13447,31,2]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"FGFR3","source":"HGNC:3690|fibroblast growth factor receptor 3","targets":["1050565|NM_000142.5(FGFR3):c.940G>A (p.Ala314Thr)|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1065490|NM_000142.5(FGFR3):c.1954A>G (p.Thr652Ala)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, single submitter|4","1163833|NM_000142.5(FGFR3):c.416A>C (p.Asp139Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR3|criteria provided, conflicting classifications|4","1172560|NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1174959|NM_000142.5(FGFR3):c.870C>T (p.His290=)|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1176796|NM_000142.5(FGFR3):c.2066C>T (p.Thr689Met)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1182044|NM_000142.5(FGFR3):c.109+174T>C|single nucleotide variant|Benign|FGFR3|criteria provided, single submitter|4","1183225|NM_000142.5(FGFR3):c.1076-34dup|Duplication|Benign|FGFR3|criteria provided, single submitter|4","1187739|NM_000142.5(FGFR3):c.725C>T (p.Thr242Met)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR3|criteria provided, conflicting classifications|4","1187885|NM_000142.5(FGFR3):c.189G>A (p.Pro63=)|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1187970|NM_000142.5(FGFR3):c.-102-181G>A|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1189295|NM_000142.5(FGFR3):c.2169-4G>A|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1189914|NM_000142.5(FGFR3):c.2360C>G (p.Ser787Cys)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1191305|NM_000142.5(FGFR3):c.1075+185G>A|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1192038|NM_000142.5(FGFR3):c.931-470C>T|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1192987|NM_000142.5(FGFR3):c.1266+64C>T|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1193084|NM_000142.5(FGFR3):c.2207C>A (p.Ser736Tyr)|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1193773|NM_000142.5(FGFR3):c.1676C>T (p.Ala559Val)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1193915|NM_000142.5(FGFR3):c.885C>T (p.Gly295=)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR3|criteria provided, conflicting classifications|4","1195270|NM_000142.5(FGFR3):c.1900G>A (p.Ala634Thr)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1195496|NM_000142.5(FGFR3):c.110-218C>T|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1196039|NM_000142.5(FGFR3):c.2169-33G>A|single nucleotide variant|Benign/Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1196185|NM_000142.5(FGFR3):c.*140TG[3]|Microsatellite|Likely benign|FGFR3|criteria provided, single submitter|4","1197738|NM_000142.5(FGFR3):c.43G>T (p.Ala15Ser)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1199143|NM_000142.5(FGFR3):c.1076-41G>C|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1200590|NM_000142.5(FGFR3):c.*138C>T|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1200664|NM_000142.5(FGFR3):c.1206C>A (p.Pro402=)|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1201990|NM_000142.5(FGFR3):c.2272G>A (p.Asp758Asn)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR3|criteria provided, conflicting classifications|4","1203329|NM_000142.5(FGFR3):c.1076-43G>T|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1204830|NM_000142.5(FGFR3):c.930+180G>A|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1204846|NM_000142.5(FGFR3):c.1674G>A (p.Ala558=)|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1205724|NM_000142.5(FGFR3):c.534C>T (p.Ala178=)|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1205823|NM_000142.5(FGFR3):c.380-101G>C|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1205996|NM_000142.5(FGFR3):c.1492C>T (p.Arg498Trp)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1206069|NM_000142.5(FGFR3):c.490C>G (p.Leu164Val)|single nucleotide variant|Benign/Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1206359|NM_000142.5(FGFR3):c.277C>T (p.Arg93Trp)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1208310|NM_000142.5(FGFR3):c.445+78C>T|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1212542|NM_000142.5(FGFR3):c.109+297C>A|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1212749|NM_000142.5(FGFR3):c.446-126C>T|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1213619|NM_000142.5(FGFR3):c.329G>A (p.Arg110Gln)|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1215889|NM_000142.5(FGFR3):c.985G>A (p.Val329Ile)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR3|criteria provided, conflicting classifications|4","1216494|NM_000142.5(FGFR3):c.1076-42G>C|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1217558|NM_000142.5(FGFR3):c.*287C>T|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1218316|NM_000142.5(FGFR3):c.847C>A (p.Pro283Thr)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1218811|NM_000142.5(FGFR3):c.1182G>A (p.Thr394=)|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1220220|NM_000142.5(FGFR3):c.1836+44C>T|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1223791|NM_000142.5(FGFR3):c.1075+168C>T|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1224374|NM_000142.5(FGFR3):c.370C>T (p.Arg124Trp)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1224453|NM_000142.5(FGFR3):c.937G>T (p.Gly313Cys)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1224471|NM_000142.5(FGFR3):c.685G>A (p.Val229Ile)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1224600|NM_000142.5(FGFR3):c.1960-13C>T|single nucleotide variant|Benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1227812|NM_000142.5(FGFR3):c.*36A>G|single nucleotide variant|Benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1229898|NM_000142.5(FGFR3):c.-102-18_-102-11del|Deletion|Benign/Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1251273|NM_000142.5(FGFR3):c.-103+141C>T|single nucleotide variant|Benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1252306|NM_000142.5(FGFR3):c.1285G>A (p.Ala429Thr)|single nucleotide variant|Benign/Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1253944|NM_000142.5(FGFR3):c.930+218G>A|single nucleotide variant|Benign|FGFR3|criteria provided, single submitter|4","1254285|NM_000142.5(FGFR3):c.1701G>C (p.Leu567=)|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1254355|NM_000142.5(FGFR3):c.1195C>T (p.Arg399Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR3|criteria provided, conflicting classifications|4","1254578|NM_000142.5(FGFR3):c.2249G>A (p.Arg750His)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1254762|NM_000142.5(FGFR3):c.921C>T (p.Thr307=)|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1267087|NM_000142.5(FGFR3):c.930+174T>C|single nucleotide variant|Benign|FGFR3|criteria provided, single submitter|4","1270999|NM_000142.5(FGFR3):c.1076-34del|Deletion|Benign|FGFR3|criteria provided, single submitter|4","1280506|NM_000142.5(FGFR3):c.109+309C>T|single nucleotide variant|Benign|FGFR3|criteria provided, single submitter|4","1283657|NM_000142.5(FGFR3):c.1075+236T>C|single nucleotide variant|Benign|FGFR3|criteria provided, single submitter|4","1290748|NM_000142.5(FGFR3):c.*184C>T|single nucleotide variant|Benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1293252|NM_000142.5(FGFR3):c.*140TG[8]|Microsatellite|Benign|FGFR3|criteria provided, single submitter|4","1297603|NM_000142.5(FGFR3):c.1646-17G>A|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1297702|NM_000142.5(FGFR3):c.915C>T (p.Tyr305=)|single nucleotide variant|Likely benign|FGFR3|criteria provided, multiple submitters, no conflicts|4","1301520|NM_000142.5(FGFR3):c.932C>T (p.Thr311Met)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1303807|NM_000142.5(FGFR3):c.779C>T (p.Pro260Leu)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1303899|NM_000142.5(FGFR3):c.2349_2350del (p.Asp785fs)|Deletion|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1305219|NM_000142.5(FGFR3):c.43G>A (p.Ala15Thr)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1305323|NM_000142.5(FGFR3):c.1862G>T (p.Arg621Leu)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1305498|NM_000142.5(FGFR3):c.1675G>A (p.Ala559Thr)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1306088|NM_000142.5(FGFR3):c.1838G>A (p.Cys613Tyr)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1306204|NM_000142.5(FGFR3):c.2110_2126del (p.Phe704fs)|Deletion|Uncertain significance|FGFR3|criteria provided, single submitter|4","1306900|NM_000142.5(FGFR3):c.2374G>A (p.Asp792Asn)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1307191|NM_000142.5(FGFR3):c.585C>G (p.Phe195Leu)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1308572|NM_000142.5(FGFR3):c.781G>A (p.Ala261Thr)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1309204|NM_000142.5(FGFR3):c.2309del (p.Tyr770fs)|Deletion|Uncertain significance|FGFR3|criteria provided, single submitter|4","1309447|NM_000142.5(FGFR3):c.1242C>G (p.Ile414Met)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1309951|NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1310286|NM_000142.5(FGFR3):c.1276G>A (p.Glu426Lys)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1310646|NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1312813|NM_000142.5(FGFR3):c.630G>A (p.Gln210=)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR3|criteria provided, conflicting classifications|4","1313268|NM_000142.5(FGFR3):c.1921G>A (p.Asp641Asn)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1313374|NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR3|criteria provided, conflicting classifications|4","1314671|NM_000142.5(FGFR3):c.1646-11C>A|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR3|criteria provided, conflicting classifications|4","1314866|NM_000142.5(FGFR3):c.2337del (p.Ser780fs)|Deletion|Uncertain significance|FGFR3|criteria provided, single submitter|4","1315094|NM_000142.5(FGFR3):c.965A>G (p.Glu322Gly)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1315100|NM_000142.5(FGFR3):c.202_204delinsT (p.Pro68fs)|Indel|Uncertain significance|FGFR3|criteria provided, single submitter|4","1315452|NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1319505|NM_000142.5(FGFR3):c.1959+6C>T|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1320855|NM_000142.5(FGFR3):c.446-10C>T|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR3|criteria provided, conflicting classifications|4","1321739|NM_000142.5(FGFR3):c.1829C>A (p.Ser610Tyr)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, multiple submitters, no conflicts|4","1325830|NM_000142.5(FGFR3):c.1618A>C (p.Asn540His)|single nucleotide variant|Likely pathogenic|FGFR3|criteria provided, single submitter|4","1327391|NM_000142.5(FGFR3):c.1450G>A (p.Gly484Ser)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1328254|NM_000142.5(FGFR3):c.740-18C>T|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4","1328271|NM_000142.5(FGFR3):c.946A>G (p.Thr316Ala)|single nucleotide variant|Uncertain significance|FGFR3|criteria provided, single submitter|4","1328275|NM_000142.5(FGFR3):c.931-20G>A|single nucleotide variant|Likely benign|FGFR3|criteria provided, single submitter|4"]},{"input":"TP63","source":"HGNC:15979|tumor protein p63","targets":["1018494|NM_003722.5(TP63):c.796C>T (p.Arg266Ter)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","1024583|NM_003722.5(TP63):c.1861del (p.Ser621fs)|Deletion|Pathogenic|TP63|criteria provided, single submitter|3","1038841|NM_003722.5(TP63):c.1121C>T (p.Thr374Met)|single nucleotide variant|Uncertain significance|TP63|criteria provided, multiple submitters, no conflicts|3","1042494|NM_003722.5(TP63):c.1697C>T (p.Thr566Met)|single nucleotide variant|Uncertain significance|TP63|criteria provided, multiple submitters, no conflicts|3","1049484|NM_003722.5(TP63):c.580-11A>T|single nucleotide variant|Benign|TP63|criteria provided, multiple submitters, no conflicts|3","1051579|NM_003722.5(TP63):c.1027C>G (p.Arg343Gly)|single nucleotide variant|Uncertain significance|TP63|criteria provided, single submitter|3","1054108|NM_003722.5(TP63):c.799G>A (p.Val267Ile)|single nucleotide variant|Uncertain significance|TP63|criteria provided, single submitter|3","1062831|NM_003722.5(TP63):c.1050A>T (p.Arg350Ser)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","1070564|NM_003722.5(TP63):c.1007G>A (p.Gly336Asp)|single nucleotide variant|Pathogenic/Likely pathogenic|TP63|criteria provided, multiple submitters, no conflicts|3","1076262|NM_003722.5(TP63):c.1670G>T (p.Gly557Val)|single nucleotide variant|Pathogenic/Likely pathogenic|TP63|criteria provided, multiple submitters, no conflicts|3","1104553|NM_003722.5(TP63):c.1885G>A (p.Gly629Ser)|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1110153|NM_003722.5(TP63):c.1626G>A (p.Pro542=)|single nucleotide variant|Likely benign|TP63|criteria provided, multiple submitters, no conflicts|3","1138613|NM_003722.5(TP63):c.1213-17del|Deletion|Likely benign|TP63|criteria provided, single submitter|3","1151667|NM_003722.5(TP63):c.708C>T (p.His236=)|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1164337|NM_003722.5(TP63):c.62+6895T>C|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1167533|NM_003722.5(TP63):c.62+8236T>C|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1177730|NM_003722.5(TP63):c.62+50063C>T|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1177797|NM_003722.5(TP63):c.325-18252dup|Duplication|Likely benign|TP63|criteria provided, single submitter|3","1177997|NM_003722.5(TP63):c.767-333C>T|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1178002|NM_003722.5(TP63):c.1129+296dup|Duplication|Benign|TP63|criteria provided, single submitter|3","1178305|NM_003722.5(TP63):c.579+158T>A|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1178338|NM_003722.5(TP63):c.3G>T (p.Met1Ile)|single nucleotide variant|Likely pathogenic|TP63|criteria provided, single submitter|3","1182249|NC_000003.12:g.189897324C>T|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1183005|NM_003722.5(TP63):c.767-93T>C|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1187502|NM_003722.5(TP63):c.1350-62A>G|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1188518|NM_003722.5(TP63):c.191+275A>C|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1189866|NM_003722.5(TP63):c.1350-56A>C|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1189873|NM_003722.5(TP63):c.766+105G>A|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1190738|NM_003722.5(TP63):c.566C>T (p.Ser189Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|TP63|criteria provided, conflicting classifications|3","1191899|NM_003722.5(TP63):c.1507+300T>C|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1193256|NM_003722.5(TP63):c.325-268A>G|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1193285|NM_003722.5(TP63):c.766+104C>T|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1193434|NM_003722.5(TP63):c.882+321T>G|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1199099|NM_003722.5(TP63):c.1508-126C>T|single nucleotide variant|Likely benign|TP63|criteria provided, multiple submitters, no conflicts|3","1202029|NM_003722.5(TP63):c.325-18195A>G|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1202722|NM_003722.5(TP63):c.374A>C (p.Gln125Pro)|single nucleotide variant|Conflicting classifications of pathogenicity|TP63|criteria provided, conflicting classifications|3","1204553|NM_003722.5(TP63):c.62+225C>T|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1206637|NM_003722.5(TP63):c.1129+202A>C|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1211813|NM_003722.5(TP63):c.1508-29C>A|single nucleotide variant|Likely benign|TP63|criteria provided, multiple submitters, no conflicts|3","1214233|NM_003722.5(TP63):c.192-287A>G|single nucleotide variant|Likely benign|TP63|criteria provided, single submitter|3","1214793|NM_003722.5(TP63):c.1350-6145G>A|single nucleotide variant|Likely benign|TP63|criteria provided, multiple submitters, no conflicts|3","1215430|NM_003722.5(TP63):c.883-88G>C|single nucleotide variant|Likely benign|TP63|criteria provided, multiple submitters, no conflicts|3","1223026|NM_003722.5(TP63):c.1507+269A>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1224575|NM_003722.5(TP63):c.63-6274G>T|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1225374|NM_003722.5(TP63):c.62+49875T>C|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1228444|NM_003722.5(TP63):c.62+25276G>C|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1229143|NM_003722.5(TP63):c.1349+40G>T|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1232095|NM_003722.5(TP63):c.1212+79A>G|single nucleotide variant|Benign|TP63|criteria provided, multiple submitters, no conflicts|3","1233682|NM_003722.5(TP63):c.1507+264C>T|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1233871|NM_003722.5(TP63):c.62+50004G>A|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1234137|NM_003722.5(TP63):c.62+24991T>A|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1234146|NM_003722.5(TP63):c.62+50167A>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1236039|NM_003722.5(TP63):c.191+254C>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1236231|NM_003722.5(TP63):c.992+121C>T|single nucleotide variant|Benign|TP63|criteria provided, multiple submitters, no conflicts|3","1238951|NM_003722.5(TP63):c.1129+125C>G|single nucleotide variant|Benign|TP63|criteria provided, multiple submitters, no conflicts|3","1241847|NM_003722.5(TP63):c.62+24867G>T|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1243129|NM_003722.5(TP63):c.1130-237T>C|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1244344|NM_003722.5(TP63):c.1349+269G>T|single nucleotide variant|Benign|TP63|criteria provided, multiple submitters, no conflicts|3","1251400|NM_003722.5(TP63):c.993-187A>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1254122|NM_003722.5(TP63):c.63-6388del|Deletion|Benign|TP63|criteria provided, single submitter|3","1256918|NM_003722.5(TP63):c.63-30964A>T|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1264717|NM_003722.5(TP63):c.992+299T>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1264861|NM_003722.5(TP63):c.62+49783A>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1266631|NM_003722.5(TP63):c.1130-283A>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1267398|NM_003722.5(TP63):c.63-6066G>A|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1268379|NM_003722.5(TP63):c.324+166C>G|single nucleotide variant|Benign|TP63|criteria provided, multiple submitters, no conflicts|3","1270627|NM_003722.5(TP63):c.63-336A>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1271522|NM_003722.5(TP63):c.63-149A>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1272622|NM_003722.5(TP63):c.766+294A>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1276115|NM_003722.5(TP63):c.63-6311C>T|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1279583|NM_003722.5(TP63):c.579+39T>A|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1281945|NM_003722.5(TP63):c.1653-264C>T|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1285650|NM_003722.5(TP63):c.324+76T>C|single nucleotide variant|Benign|TP63|criteria provided, multiple submitters, no conflicts|3","1290389|NM_003722.5(TP63):c.1350-34T>C|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1290390|NM_003722.5(TP63):c.882+304G>A|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1290392|NM_003722.5(TP63):c.325-75_325-74del|Deletion|Benign|TP63|criteria provided, single submitter|3","1290454|NM_003722.5(TP63):c.767-40A>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1294557|NM_003722.5(TP63):c.1127G>A (p.Arg376His)|single nucleotide variant|Benign/Likely benign|TP63|criteria provided, multiple submitters, no conflicts|3","1296334|NM_003722.5(TP63):c.767-338A>G|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1298948|NM_003722.5(TP63):c.1350-6232G>A|single nucleotide variant|Uncertain significance|TP63|criteria provided, single submitter|3","1299512|NM_003722.5(TP63):c.881A>G (p.Gln294Arg)|single nucleotide variant|Likely pathogenic|TP63|criteria provided, single submitter|3","1310383|NM_003722.5(TP63):c.1204T>C (p.Tyr402His)|single nucleotide variant|Uncertain significance|TP63|criteria provided, multiple submitters, no conflicts|3","1314992|NM_003722.5(TP63):c.2021G>A (p.Arg674His)|single nucleotide variant|Uncertain significance|TP63|criteria provided, multiple submitters, no conflicts|3","1319322|NM_003722.5(TP63):c.1350-5670A>G|single nucleotide variant|Uncertain significance|TP63|criteria provided, single submitter|3","1325219|NM_003722.5(TP63):c.970_972del (p.Ile324del)|Deletion|Likely pathogenic|TP63|criteria provided, multiple submitters, no conflicts|3","1327237|NM_003722.5(TP63):c.62+49918G>A|single nucleotide variant|Benign|TP63|criteria provided, single submitter|3","1328849|NM_003722.5(TP63):c.383C>T (p.Ser128Phe)|single nucleotide variant|Uncertain significance|TP63|criteria provided, single submitter|3","1333323|NM_003722.5(TP63):c.802G>A (p.Glu268Lys)|single nucleotide variant|Conflicting classifications of pathogenicity|TP63|criteria provided, conflicting classifications|3","1333911|NM_003722.5(TP63):c.858dup (p.Leu287fs)|Duplication|Likely pathogenic|TP63|criteria provided, single submitter|3","1335553|NM_001114980.2(TP63):c.2T>C (p.Met1Thr)|single nucleotide variant|Uncertain significance|TP63|criteria provided, single submitter|3","1341520|NM_003722.5(TP63):c.1789A>T (p.Ile597Phe)|single nucleotide variant|Likely pathogenic|TP63|criteria provided, single submitter|3","1344645|NM_003722.5(TP63):c.1012C>T (p.Arg338Cys)|single nucleotide variant|Likely pathogenic|TP63|no assertion criteria provided|3","1346037|NM_003722.5(TP63):c.1497G>A (p.Met499Ile)|single nucleotide variant|Uncertain significance|TP63|criteria provided, single submitter|3","1349518|NM_003722.5(TP63):c.1973G>A (p.Trp658Ter)|single nucleotide variant|Likely pathogenic|TP63|criteria provided, single submitter|3","1358479|NM_003722.5(TP63):c.1550A>G (p.Asn517Ser)|single nucleotide variant|Uncertain significance|TP63|criteria provided, single submitter|3","1370075|NM_003722.5(TP63):c.1320G>T (p.Gln440His)|single nucleotide variant|Uncertain significance|TP63|criteria provided, single submitter|3","1370657|NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del)|Microsatellite|Uncertain significance|TP63|criteria provided, multiple submitters, no conflicts|3","1370798|NM_003722.5(TP63):c.1537G>C (p.Ala513Pro)|single nucleotide variant|Conflicting classifications of pathogenicity|TP63|criteria provided, conflicting classifications|3","1375700|NM_003722.5(TP63):c.1507+6_1507+7del|Microsatellite|Uncertain significance|TP63|criteria provided, multiple submitters, no conflicts|3","1380856|NM_003722.5(TP63):c.411C>G (p.Asp137Glu)|single nucleotide variant|Uncertain significance|TP63|criteria provided, single submitter|3"]},{"input":"GSTM1","source":"HGNC:4632|glutathione S-transferase mu 1","targets":["1340792|GRCh37/hg19 1p13.3(chr1:110178180-110278171)x1|copy number loss|Uncertain significance|GSTM1|no assertion criteria provided|1","2542421|NM_000561.4(GSTM1):c.518A>G (p.Lys173Arg)|single nucleotide variant|Uncertain significance|GSTM1|criteria provided, single submitter|1","2604182|NM_000561.4(GSTM1):c.20A>G (p.Tyr7Cys)|single nucleotide variant|Uncertain significance|GSTM1|criteria provided, single submitter|1","2638985|NM_000561.4(GSTM1):c.433C>T (p.Arg145Trp)|single nucleotide variant|Benign|GSTM1|criteria provided, single submitter|1","3030837|NM_000561.4(GSTM1):c.244C>T (p.Arg82Cys)|single nucleotide variant|Likely benign|GSTM1|no assertion criteria provided|1","3102976|NM_000561.4(GSTM1):c.377A>C (p.Lys126Thr)|single nucleotide variant|Uncertain significance|GSTM1|criteria provided, single submitter|1","3856166|NM_000561.4(GSTM1):c.143A>G (p.Asn48Ser)|single nucleotide variant|Uncertain significance|GSTM1|criteria provided, single submitter|1","4032878|NM_000561.4(GSTM1):c.306C>A (p.Asn102Lys)|single nucleotide variant|Uncertain significance|GSTM1|criteria provided, single submitter|1","4032879|NM_000561.4(GSTM1):c.11T>C (p.Ile4Thr)|single nucleotide variant|Likely benign|GSTM1|criteria provided, single submitter|1","4267610|NM_000561.4(GSTM1):c.383T>C (p.Leu128Ser)|single nucleotide variant|Uncertain significance|GSTM1|criteria provided, single submitter|1","4267611|NM_000561.4(GSTM1):c.321C>A (p.Asn107Lys)|single nucleotide variant|Uncertain significance|GSTM1|criteria provided, single submitter|1","4267612|NM_000561.4(GSTM1):c.495C>A (p.Asp165Glu)|single nucleotide variant|Uncertain significance|GSTM1|criteria provided, single submitter|1","4289448|NM_000561.4(GSTM1):c.361-10del|Deletion||GSTM1||1","4289505|NM_000561.4(GSTM1):c.361del|Deletion||GSTM1||1","4289542|NM_000561.4(GSTM1):c.456+1del|Deletion||GSTM1||1","4289646|NM_000561.4(GSTM1):c.457-16del|Deletion||GSTM1||1","4289755|NM_000561.4(GSTM1):c.457-13del|Deletion||GSTM1||1","4289833|NM_000561.4(GSTM1):c.457-5del|Deletion||GSTM1||1","4289946|NM_000561.4(GSTM1):c.457-3del|Deletion||GSTM1||1","4289988|NM_000561.4(GSTM1):c.457-2del|Deletion||GSTM1||1","4290036|NM_000561.4(GSTM1):c.457-1del|Deletion||GSTM1||1","4290079|NM_000561.4(GSTM1):c.457del (p.Ile153fs)|Deletion||GSTM1||1","4290118|NM_000561.4(GSTM1):c.483del (p.Val160_Tyr161insTer)|Deletion||GSTM1||1","4290232|NM_000561.4(GSTM1):c.567+1del|Deletion||GSTM1||1","4328603|NM_000561.4(GSTM1):c.37-2A>T|single nucleotide variant||GSTM1||1","4328620|NM_000561.4(GSTM1):c.360+2T>A|single nucleotide variant||GSTM1||1","4328692|NM_000561.4(GSTM1):c.360+13A>G|single nucleotide variant||GSTM1||1","4328756|NM_000561.4(GSTM1):c.457-2A>C|single nucleotide variant||GSTM1||1","4328818|NM_000561.4(GSTM1):c.568-3C>G|single nucleotide variant||GSTM1||1","4674252|NM_000561.4(GSTM1):c.130A>C (p.Ser44Arg)|single nucleotide variant|Uncertain significance|GSTM1|criteria provided, single submitter|1","4674254|NM_000561.4(GSTM1):c.245G>A (p.Arg82His)|single nucleotide variant|Uncertain significance|GSTM1|criteria provided, single submitter|1","4674255|NM_000561.4(GSTM1):c.611T>C (p.Leu204Pro)|single nucleotide variant|Uncertain significance|GSTM1|criteria provided, single submitter|1","741106|NM_000561.4(GSTM1):c.475C>G (p.Leu159Val)|single nucleotide variant|Likely benign|GSTM1|criteria provided, single submitter|1","754642|NM_000561.4(GSTM1):c.45C>A (p.His15Gln)|single nucleotide variant|Likely benign|GSTM1|criteria provided, single submitter|1","769519|NM_000561.4(GSTM1):c.287G>T (p.Arg96Leu)|single nucleotide variant|Benign|GSTM1|criteria provided, single submitter|1","769520|NM_000561.4(GSTM1):c.314T>C (p.Met105Thr)|single nucleotide variant|Benign|GSTM1|criteria provided, single submitter|1"]},{"input":"NAT2","source":"HGNC:7646|N-acetyltransferase 2","targets":["2234809|NM_000015.3(NAT2):c.247G>T (p.Gly83Cys)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2249546|NM_000015.3(NAT2):c.194G>T (p.Gly65Val)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2263523|NM_000015.3(NAT2):c.467G>A (p.Arg156Lys)|single nucleotide variant|Likely benign|NAT2|criteria provided, single submitter|8","2277822|NM_000015.3(NAT2):c.698G>C (p.Cys233Ser)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2308293|NM_000015.3(NAT2):c.835C>A (p.Leu279Ile)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2329022|NM_000015.3(NAT2):c.706G>C (p.Gly236Arg)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2387382|NM_000015.3(NAT2):c.176T>A (p.Ile59Asn)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2478274|NM_000015.3(NAT2):c.257C>A (p.Thr86Asn)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2479780|NM_000015.3(NAT2):c.241A>G (p.Thr81Ala)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2496035|NM_000015.3(NAT2):c.505T>C (p.Tyr169His)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2517151|NM_000015.3(NAT2):c.749C>A (p.Thr250Lys)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2560996|NM_000015.3(NAT2):c.813T>G (p.Phe271Leu)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2619411|NM_000015.3(NAT2):c.547A>G (p.Lys183Glu)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3034766|NM_000015.3(NAT2):c.246C>T (p.Ile82=)|single nucleotide variant|Likely benign|NAT2|no assertion criteria provided|8","3044340|NM_000015.3(NAT2):c.387C>T (p.Ser129=)|single nucleotide variant|Likely benign|NAT2|no assertion criteria provided|8","3046292|NM_000015.3(NAT2):c.504G>A (p.Gln168=)|single nucleotide variant|Likely benign|NAT2|no assertion criteria provided|8","3059207|NM_000015.3(NAT2):c.803G>A (p.Arg268Lys)|single nucleotide variant|Likely benign|NAT2|no assertion criteria provided|8","3060182|NM_000015.3(NAT2):c.282C>T (p.Tyr94=)|single nucleotide variant|Benign|NAT2|no assertion criteria provided|8","3060382|NM_000015.3(NAT2):c.481C>T (p.Leu161=)|single nucleotide variant|Benign|NAT2|no assertion criteria provided|8","3176350|NM_000015.3(NAT2):c.194G>C (p.Gly65Ala)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3176366|NM_000015.3(NAT2):c.346G>A (p.Gly116Ser)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3176372|NM_000015.3(NAT2):c.406G>C (p.Glu136Gln)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3176375|NM_000015.3(NAT2):c.467G>T (p.Arg156Ile)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3176386|NM_000015.3(NAT2):c.58G>T (p.Asp20Tyr)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3176402|NM_000015.3(NAT2):c.823T>A (p.Leu275Met)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3298473|NM_000015.3(NAT2):c.51C>G (p.Asn17Lys)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3298474|NM_000015.3(NAT2):c.847C>G (p.Pro283Ala)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3298475|NM_000015.3(NAT2):c.769A>T (p.Thr257Ser)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3298476|NM_000015.3(NAT2):c.581T>C (p.Leu194Pro)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3402731|NM_000015.3(NAT2):c.505T>G (p.Tyr169Asp)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3402732|NM_000015.3(NAT2):c.455T>G (p.Leu152Trp)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3402733|NM_000015.3(NAT2):c.475T>A (p.Trp159Arg)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3402734|NM_000015.3(NAT2):c.788T>C (p.Val263Ala)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3402736|NM_000015.3(NAT2):c.259A>G (p.Thr87Ala)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3877702|NM_000015.3(NAT2):c.365A>G (p.Asp122Gly)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3877703|NM_000015.3(NAT2):c.393G>C (p.Met131Ile)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3917319|NM_000015.3(NAT2):c.580C>G (p.Leu194Val)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3917320|NM_000015.3(NAT2):c.262A>G (p.Met88Val)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3917321|NM_000015.3(NAT2):c.188A>G (p.Asn63Ser)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4116938|NM_000015.3(NAT2):c.67A>C (p.Thr23Pro)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4116939|NM_000015.3(NAT2):c.200G>T (p.Trp67Leu)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4116940|NM_000015.3(NAT2):c.376G>C (p.Gly126Arg)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4116941|NM_000015.3(NAT2):c.736T>A (p.Tyr246Asn)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4116942|NM_000015.3(NAT2):c.229T>C (p.Trp77Arg)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4555924|NM_000015.3(NAT2):c.586C>A (p.Pro196Thr)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","719326|NM_000015.3(NAT2):c.579G>T (p.Thr193=)|single nucleotide variant|Likely benign|NAT2|criteria provided, single submitter|8","719492|NM_000015.3(NAT2):c.838G>A (p.Val280Met)|single nucleotide variant|Benign|NAT2|criteria provided, multiple submitters, no conflicts|8","722|NM_000015.3(NAT2):c.590G>A (p.Arg197Gln)|single nucleotide variant|Benign; drug response|NAT2|no assertion criteria provided|8","723|NM_000015.2(NAT2):c.341T>C (p.Ile114Thr)|single nucleotide variant|Benign; drug response|NAT2|no assertion criteria provided|8","724|NM_000015.3(NAT2):c.803= (p.Arg268=)|single nucleotide variant|drug response|NAT2|no assertion criteria provided|8","725|NM_000015.2(NAT2):c.857G>A (p.Gly286Glu)|single nucleotide variant|drug response|NAT2|no assertion criteria provided|8","726|NM_000015.3(NAT2):c.191G>A (p.Arg64Gln)|single nucleotide variant|Likely benign; drug response|NAT2|no assertion criteria provided|8","783517|NM_000015.3(NAT2):c.609G>T (p.Glu203Asp)|single nucleotide variant|Benign|NAT2|criteria provided, single submitter|8","980305|GRCh37/hg19 8p22(chr8:17878070-18529463)x3|copy number gain|Uncertain significance|NAT2|no assertion criteria provided|8"]},{"input":"NAT2","source":"HGNC:13447|solute carrier family 38 member 1","targets":["2222271|NM_030674.4(SLC38A1):c.794C>T (p.Thr265Met)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","2234809|NM_000015.3(NAT2):c.247G>T (p.Gly83Cys)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2249546|NM_000015.3(NAT2):c.194G>T (p.Gly65Val)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2263523|NM_000015.3(NAT2):c.467G>A (p.Arg156Lys)|single nucleotide variant|Likely benign|NAT2|criteria provided, single submitter|8","2277822|NM_000015.3(NAT2):c.698G>C (p.Cys233Ser)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2296067|NM_030674.4(SLC38A1):c.565G>A (p.Ala189Thr)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","2296315|NM_030674.4(SLC38A1):c.583C>T (p.Arg195Cys)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","2308293|NM_000015.3(NAT2):c.835C>A (p.Leu279Ile)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2329022|NM_000015.3(NAT2):c.706G>C (p.Gly236Arg)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2387382|NM_000015.3(NAT2):c.176T>A (p.Ile59Asn)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2392207|NM_030674.4(SLC38A1):c.1303T>G (p.Ser435Ala)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","2398396|NM_030674.4(SLC38A1):c.905G>A (p.Arg302Gln)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","2410488|NM_030674.4(SLC38A1):c.445G>A (p.Val149Ile)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","2478274|NM_000015.3(NAT2):c.257C>A (p.Thr86Asn)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2479780|NM_000015.3(NAT2):c.241A>G (p.Thr81Ala)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2496035|NM_000015.3(NAT2):c.505T>C (p.Tyr169His)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2510584|NM_030674.4(SLC38A1):c.220G>A (p.Gly74Ser)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","2517151|NM_000015.3(NAT2):c.749C>A (p.Thr250Lys)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2549320|NM_030674.4(SLC38A1):c.139C>T (p.Arg47Cys)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","2560996|NM_000015.3(NAT2):c.813T>G (p.Phe271Leu)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2616145|NM_030674.4(SLC38A1):c.1348A>G (p.Thr450Ala)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","2619411|NM_000015.3(NAT2):c.547A>G (p.Lys183Glu)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","2620183|NM_030674.4(SLC38A1):c.419A>C (p.Gln140Pro)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3034766|NM_000015.3(NAT2):c.246C>T (p.Ile82=)|single nucleotide variant|Likely benign|NAT2|no assertion criteria provided|8","3044340|NM_000015.3(NAT2):c.387C>T (p.Ser129=)|single nucleotide variant|Likely benign|NAT2|no assertion criteria provided|8","3046292|NM_000015.3(NAT2):c.504G>A (p.Gln168=)|single nucleotide variant|Likely benign|NAT2|no assertion criteria provided|8","3059207|NM_000015.3(NAT2):c.803G>A (p.Arg268Lys)|single nucleotide variant|Likely benign|NAT2|no assertion criteria provided|8","3060182|NM_000015.3(NAT2):c.282C>T (p.Tyr94=)|single nucleotide variant|Benign|NAT2|no assertion criteria provided|8","3060382|NM_000015.3(NAT2):c.481C>T (p.Leu161=)|single nucleotide variant|Benign|NAT2|no assertion criteria provided|8","3164535|NM_030674.4(SLC38A1):c.1085T>C (p.Val362Ala)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3164536|NM_030674.4(SLC38A1):c.1453G>A (p.Glu485Lys)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3164537|NM_030674.4(SLC38A1):c.1456G>A (p.Gly486Ser)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3164538|NM_030674.4(SLC38A1):c.8A>C (p.His3Pro)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3176350|NM_000015.3(NAT2):c.194G>C (p.Gly65Ala)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3176366|NM_000015.3(NAT2):c.346G>A (p.Gly116Ser)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3176372|NM_000015.3(NAT2):c.406G>C (p.Glu136Gln)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3176375|NM_000015.3(NAT2):c.467G>T (p.Arg156Ile)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3176386|NM_000015.3(NAT2):c.58G>T (p.Asp20Tyr)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3176402|NM_000015.3(NAT2):c.823T>A (p.Leu275Met)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3298473|NM_000015.3(NAT2):c.51C>G (p.Asn17Lys)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3298474|NM_000015.3(NAT2):c.847C>G (p.Pro283Ala)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3298475|NM_000015.3(NAT2):c.769A>T (p.Thr257Ser)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3298476|NM_000015.3(NAT2):c.581T>C (p.Leu194Pro)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3319696|NM_030674.4(SLC38A1):c.739G>T (p.Val247Phe)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3402731|NM_000015.3(NAT2):c.505T>G (p.Tyr169Asp)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3402732|NM_000015.3(NAT2):c.455T>G (p.Leu152Trp)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3402733|NM_000015.3(NAT2):c.475T>A (p.Trp159Arg)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3402734|NM_000015.3(NAT2):c.788T>C (p.Val263Ala)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3402736|NM_000015.3(NAT2):c.259A>G (p.Thr87Ala)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3444287|NM_030674.4(SLC38A1):c.724C>A (p.Gln242Lys)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3444288|NM_030674.4(SLC38A1):c.1449T>A (p.Ser483Arg)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3444289|NM_030674.4(SLC38A1):c.907T>A (p.Ser303Thr)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3444290|NM_030674.4(SLC38A1):c.1013A>T (p.Gln338Leu)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3444294|NM_030674.4(SLC38A1):c.115A>G (p.Ile39Val)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3797671|NM_030674.4(SLC38A1):c.943T>C (p.Phe315Leu)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3797672|NM_030674.4(SLC38A1):c.8A>T (p.His3Leu)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3877702|NM_000015.3(NAT2):c.365A>G (p.Asp122Gly)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3877703|NM_000015.3(NAT2):c.393G>C (p.Met131Ile)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3917319|NM_000015.3(NAT2):c.580C>G (p.Leu194Val)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3917320|NM_000015.3(NAT2):c.262A>G (p.Met88Val)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3917321|NM_000015.3(NAT2):c.188A>G (p.Asn63Ser)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","3956736|NM_030674.4(SLC38A1):c.359A>G (p.Asn120Ser)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3956737|NM_030674.4(SLC38A1):c.1442C>T (p.Ser481Leu)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","3956738|NM_030674.4(SLC38A1):c.18T>G (p.Ser6Arg)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4116938|NM_000015.3(NAT2):c.67A>C (p.Thr23Pro)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4116939|NM_000015.3(NAT2):c.200G>T (p.Trp67Leu)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4116940|NM_000015.3(NAT2):c.376G>C (p.Gly126Arg)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4116941|NM_000015.3(NAT2):c.736T>A (p.Tyr246Asn)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4116942|NM_000015.3(NAT2):c.229T>C (p.Trp77Arg)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4168041|NM_030674.4(SLC38A1):c.98A>G (p.Glu33Gly)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4168042|NM_030674.4(SLC38A1):c.963G>T (p.Met321Ile)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4168043|NM_030674.4(SLC38A1):c.361C>A (p.Leu121Ile)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4168044|NM_030674.4(SLC38A1):c.1261G>A (p.Val421Ile)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4168045|NM_030674.4(SLC38A1):c.502A>G (p.Ile168Val)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4168046|NM_030674.4(SLC38A1):c.1432G>C (p.Ala478Pro)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4168047|NM_030674.4(SLC38A1):c.667G>A (p.Gly223Arg)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4168048|NM_030674.4(SLC38A1):c.488T>C (p.Leu163Pro)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4384491|NM_030674.4(SLC38A1):c.*2135T>A|single nucleotide variant||SLC38A1||12","4384492|NM_030674.4(SLC38A1):c.*462A>G|single nucleotide variant||SLC38A1||12","4384493|NM_030674.4(SLC38A1):c.1363-14T>G|single nucleotide variant||SLC38A1||12","4384495|NM_030674.4(SLC38A1):c.1362+1443G>T|single nucleotide variant||SLC38A1||12","4384496|NM_030674.4(SLC38A1):c.1265-1G>T|single nucleotide variant||SLC38A1||12","4384497|NM_030674.4(SLC38A1):c.1185G>A (p.Val395=)|single nucleotide variant||SLC38A1||12","4384498|NM_030674.4(SLC38A1):c.1123-78A>G|single nucleotide variant||SLC38A1||12","4384499|NM_030674.4(SLC38A1):c.1003+56A>G|single nucleotide variant||SLC38A1||12","4384500|NM_030674.4(SLC38A1):c.903-11T>C|single nucleotide variant||SLC38A1||12","4384501|NM_030674.4(SLC38A1):c.903-120A>T|single nucleotide variant||SLC38A1||12","4384502|NM_030674.4(SLC38A1):c.668G>A (p.Gly223Glu)|single nucleotide variant||SLC38A1||12","4384504|NM_030674.4(SLC38A1):c.647-1G>T|single nucleotide variant||SLC38A1||12","4384505|NM_030674.4(SLC38A1):c.314+150A>G|single nucleotide variant||SLC38A1||12","4555924|NM_000015.3(NAT2):c.586C>A (p.Pro196Thr)|single nucleotide variant|Uncertain significance|NAT2|criteria provided, single submitter|8","4585637|NM_030674.4(SLC38A1):c.688G>T (p.Val230Phe)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4585638|NM_030674.4(SLC38A1):c.1361G>T (p.Trp454Leu)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4585639|NM_030674.4(SLC38A1):c.949G>A (p.Ala317Thr)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4585640|NM_030674.4(SLC38A1):c.1341T>A (p.Asp447Glu)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4585641|NM_030674.4(SLC38A1):c.83C>A (p.Ser28Tyr)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4585642|NM_030674.4(SLC38A1):c.223A>G (p.Met75Val)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","4585643|NM_030674.4(SLC38A1):c.736A>G (p.Ile246Val)|single nucleotide variant|Uncertain significance|SLC38A1|criteria provided, single submitter|12","719326|NM_000015.3(NAT2):c.579G>T (p.Thr193=)|single nucleotide variant|Likely benign|NAT2|criteria provided, single submitter|8","719492|NM_000015.3(NAT2):c.838G>A (p.Val280Met)|single nucleotide variant|Benign|NAT2|criteria provided, multiple submitters, no conflicts|8"]}]}