{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":7,"total":667,"mapped":7},"pagination":{"has_next":true,"next_token":"-1[]HGNC:4220,10,HGNC:4220,196,0][HGNC:2186,10,HGNC:2186,11,2][HGNC:6909,10,HGNC:6909,133,0][HGNC:2200,10,HGNC:2200,176,0][HGNC:6769,10,HGNC:6769,84,1][HGNC:11766,10,HGNC:11766,150,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"GDF5","source":"HGNC:4220|growth differentiation factor 5","targets":["1007244|NM_000557.5(GDF5):c.536C>T (p.Thr179Met)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1016499|NM_000557.5(GDF5):c.544G>A (p.Asp182Asn)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1018868|NM_000557.5(GDF5):c.1406C>G (p.Thr469Arg)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1019956|NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup)|Duplication|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1020802|NM_000557.5(GDF5):c.956G>T (p.Gly319Val)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1023966|NM_000557.5(GDF5):c.150G>C (p.Arg50Ser)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1040342|NM_000557.5(GDF5):c.29T>C (p.Leu10Ser)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1054565|NM_000557.5(GDF5):c.590G>T (p.Gly197Val)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1074614|NM_000557.5(GDF5):c.992del (p.Arg331fs)|Deletion|Pathogenic|GDF5|criteria provided, multiple submitters, no conflicts|20","1141853|NM_000557.5(GDF5):c.789G>A (p.Leu263=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1186559|NM_000557.5(GDF5):c.891G>A (p.Trp297Ter)|single nucleotide variant|Pathogenic/Likely pathogenic|GDF5|criteria provided, multiple submitters, no conflicts|20","1199045|NM_000557.5(GDF5):c.631+102G>A|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1224391|NM_000557.5(GDF5):c.498del (p.Ile167fs)|Deletion|Pathogenic|GDF5|criteria provided, single submitter|20","1231359|NM_001319138.2(GDF5):c.-241-221TG[21]|Microsatellite|Benign|GDF5|criteria provided, single submitter|20","1241459|NM_001319138.2(GDF5):c.-241-221TG[17]|Microsatellite|Benign|GDF5|criteria provided, single submitter|20","1255147|NM_001319138.2(GDF5):c.-241-332T>G|single nucleotide variant|Benign|GDF5|criteria provided, single submitter|20","1267133|NM_001319138.2(GDF5):c.-241-221TG[15]|Microsatellite|Benign|GDF5|criteria provided, single submitter|20","1268421|NM_001319138.2(GDF5):c.-241-221TG[20]|Microsatellite|Benign|GDF5|criteria provided, single submitter|20","1275982|NM_000557.5(GDF5):c.632-91=|single nucleotide variant|Benign|GDF5|criteria provided, multiple submitters, no conflicts|20","1280763|NM_001319138.2(GDF5):c.-241-190=|Deletion|Benign|GDF5|criteria provided, single submitter|20","1281726|NM_001319138.2(GDF5):c.-241-221TG[19]|Microsatellite|Benign|GDF5|criteria provided, single submitter|20","1309373|NM_000557.5(GDF5):c.761C>A (p.Ala254Asp)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1309401|NM_000557.5(GDF5):c.1192G>C (p.Ala398Pro)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1330800|NM_000557.5(GDF5):c.543C>T (p.Ser181=)|single nucleotide variant|Likely benign|GDF5|criteria provided, multiple submitters, no conflicts|20","1349179|NM_000557.5(GDF5):c.1093_1094delinsAT (p.Asp365Ile)|Indel|Uncertain significance|GDF5|criteria provided, single submitter|20","1360516|NM_000557.5(GDF5):c.425G>A (p.Ser142Asn)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1382444|NM_000557.5(GDF5):c.518T>G (p.Met173Arg)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1383530|NM_000557.5(GDF5):c.461C>T (p.Pro154Leu)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1388599|NM_000557.5(GDF5):c.130_152del (p.Lys44fs)|Deletion|Pathogenic|GDF5|criteria provided, single submitter|20","1389242|NM_000557.5(GDF5):c.286A>G (p.Lys96Glu)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1392000|NM_000557.5(GDF5):c.490C>T (p.Pro164Ser)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1396777|NM_000557.5(GDF5):c.199G>A (p.Gly67Arg)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1401703|NM_000557.5(GDF5):c.943G>A (p.Ala315Thr)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1408834|NM_000557.5(GDF5):c.457G>A (p.Gly153Arg)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1410926|NM_000557.5(GDF5):c.1082G>C (p.Arg361Pro)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1416392|NM_000557.5(GDF5):c.1068T>A (p.Asn356Lys)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1418041|NM_000557.5(GDF5):c.646G>T (p.Val216Leu)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1432852|NM_000557.5(GDF5):c.1006G>A (p.Val336Ile)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1437205|NC_000020.10:g.(?_34013855)_(34022482_?)del|Deletion|Pathogenic|GDF5|criteria provided, single submitter|20","1446667|NM_000557.5(GDF5):c.299G>C (p.Arg100Thr)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1450722|NM_000557.5(GDF5):c.1313_1314delinsTT (p.Arg438Leu)|Indel|Pathogenic|GDF5|criteria provided, single submitter|20","1453245|NM_000557.5(GDF5):c.666C>A (p.Tyr222Ter)|single nucleotide variant|Pathogenic|GDF5|criteria provided, single submitter|20","1454129|NM_000557.5(GDF5):c.404dup (p.Ala137fs)|Duplication|Pathogenic|GDF5|criteria provided, single submitter|20","1460790|NM_000557.5(GDF5):c.1449C>A (p.Asn483Lys)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1500712|NM_000557.5(GDF5):c.1052G>C (p.Arg351Pro)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1506420|NM_000557.5(GDF5):c.347A>G (p.Gln116Arg)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1512524|NM_000557.5(GDF5):c.203G>A (p.Gly68Glu)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1529232|NM_000557.5(GDF5):c.492A>T (p.Pro164=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1534879|NM_000557.5(GDF5):c.1107G>A (p.Val369=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1539133|NM_000557.5(GDF5):c.582G>A (p.Leu194=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1539259|NM_000557.5(GDF5):c.1083C>T (p.Arg361=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1548735|NM_000557.5(GDF5):c.720G>T (p.Arg240=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1548795|NM_000557.5(GDF5):c.627G>A (p.Gly209=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1552576|NM_000557.5(GDF5):c.240C>T (p.Thr80=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1553389|NM_000557.5(GDF5):c.297C>A (p.Pro99=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1562793|NM_000557.5(GDF5):c.631+10C>T|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1570528|NM_000557.5(GDF5):c.648G>T (p.Val216=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1573091|NM_000557.5(GDF5):c.963C>T (p.Ala321=)|single nucleotide variant|Likely benign|GDF5|criteria provided, multiple submitters, no conflicts|20","1575717|NM_000557.5(GDF5):c.918G>A (p.Ser306=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1609828|NM_000557.5(GDF5):c.1200C>T (p.Cys400=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1636463|NM_000557.5(GDF5):c.306C>A (p.Gly102=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1643306|NM_000557.5(GDF5):c.291G>A (p.Leu97=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1644989|NM_000557.5(GDF5):c.1122C>T (p.Phe374=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1666611|NM_000557.5(GDF5):c.513G>A (p.Glu171=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1676451|NM_000557.5(GDF5):c.1333A>C (p.Asn445His)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1704939|NM_000557.5(GDF5):c.1492T>C (p.Cys498Arg)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1714140|NM_000557.5(GDF5):c.136G>C (p.Glu46Gln)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1719189|NM_000557.5(GDF5):c.1305C>G (p.Phe435Leu)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1802523|NM_000557.5(GDF5):c.1111G>T (p.Glu371Ter)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","193119|NM_000557.5(GDF5):c.462C>A (p.Pro154=)|single nucleotide variant|Benign/Likely benign|GDF5|criteria provided, multiple submitters, no conflicts|20","1931879|NM_000557.5(GDF5):c.1130G>T (p.Arg377Leu)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1945844|NM_000557.5(GDF5):c.487C>T (p.Arg163Cys)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1946334|NM_000557.5(GDF5):c.1086T>C (p.Ser362=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","195094|NM_000557.5(GDF5):c.1334A>G (p.Asn445Ser)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","1961221|NM_000557.5(GDF5):c.1364C>T (p.Ser455Phe)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1966468|NM_000557.5(GDF5):c.1340C>G (p.Ala447Gly)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","1978426|NM_000557.5(GDF5):c.1464G>A (p.Lys488=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1982453|NM_000557.5(GDF5):c.543C>G (p.Ser181=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","1992243|NM_000557.5(GDF5):c.249A>G (p.Thr83=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","2000993|NM_000557.5(GDF5):c.753G>A (p.Lys251=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","2004025|NM_000557.5(GDF5):c.498C>T (p.Pro166=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","2004423|NM_000557.5(GDF5):c.244C>T (p.Gln82Ter)|single nucleotide variant|Pathogenic|GDF5|criteria provided, single submitter|20","2006186|NM_000557.5(GDF5):c.575T>G (p.Val192Gly)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","2007691|NM_000557.5(GDF5):c.396G>T (p.Lys132Asn)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","2016281|NM_000557.5(GDF5):c.1130G>A (p.Arg377Gln)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","2018429|NM_000557.5(GDF5):c.1465_1467del (p.Gln489del)|Deletion|Uncertain significance|GDF5|criteria provided, single submitter|20","2021205|NM_000557.5(GDF5):c.39C>G (p.Tyr13Ter)|single nucleotide variant|Pathogenic|GDF5|criteria provided, single submitter|20","2026490|NM_000557.5(GDF5):c.1086T>G (p.Ser362=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","2029749|NM_000557.5(GDF5):c.1A>T (p.Met1Leu)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","2034956|NM_000557.5(GDF5):c.1204C>A (p.Arg402=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","2045768|NM_000557.5(GDF5):c.1250G>C (p.Trp417Ser)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","2047278|NM_000557.5(GDF5):c.276T>A (p.Asp92Glu)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","2061884|NM_000557.5(GDF5):c.1114T>A (p.Tyr372Asn)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","2061885|NM_000557.5(GDF5):c.1112A>G (p.Glu371Gly)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","2066219|NM_000557.5(GDF5):c.302C>T (p.Pro101Leu)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","2067661|NM_000557.5(GDF5):c.1257C>T (p.Ile419=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","2071210|NM_000557.5(GDF5):c.638G>A (p.Arg213Gln)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","2071706|NM_000557.5(GDF5):c.156C>T (p.Pro52=)|single nucleotide variant|Likely benign|GDF5|criteria provided, single submitter|20","2073697|NM_000557.5(GDF5):c.185G>T (p.Gly62Val)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, single submitter|20","2081631|NM_000557.5(GDF5):c.740C>T (p.Ser247Leu)|single nucleotide variant|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20"]},{"input":"COL11A1","source":"HGNC:2186|collagen type XI alpha 1 chain","targets":["1000198|NM_001854.4(COL11A1):c.2206G>A (p.Gly736Arg)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1001761|NM_001854.4(COL11A1):c.5132C>T (p.Thr1711Ile)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1002231|NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1003372|NM_001854.4(COL11A1):c.4009G>A (p.Glu1337Lys)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1003720|NM_001854.4(COL11A1):c.218C>T (p.Ala73Val)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, multiple submitters, no conflicts|1","1004011|NM_001854.4(COL11A1):c.3866C>G (p.Ala1289Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1004516|NM_001854.4(COL11A1):c.4561G>T (p.Ala1521Ser)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1006025|NM_001854.4(COL11A1):c.3439G>A (p.Gly1147Ser)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1006551|NM_001854.4(COL11A1):c.1853G>A (p.Arg618Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1011626|NM_001854.4(COL11A1):c.2397A>T (p.Gly799=)|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1011931|NM_001854.4(COL11A1):c.3722C>T (p.Pro1241Leu)|single nucleotide variant|Benign|COL11A1|criteria provided, single submitter|1","1012019|NM_001854.4(COL11A1):c.2584G>A (p.Gly862Ser)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1013520|NM_001854.4(COL11A1):c.2295+1G>C|single nucleotide variant|Likely pathogenic|COL11A1|criteria provided, single submitter|1","1014453|NM_001854.4(COL11A1):c.4618G>A (p.Gly1540Ser)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, multiple submitters, no conflicts|1","1016978|NM_001854.4(COL11A1):c.1544A>G (p.Gln515Arg)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1019703|NM_001854.4(COL11A1):c.2759C>G (p.Pro920Arg)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1020406|NM_001854.4(COL11A1):c.4586T>C (p.Leu1529Pro)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1021355|NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1022115|NM_001854.4(COL11A1):c.2862+5G>A|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1024562|NM_001854.4(COL11A1):c.4032+5G>A|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, multiple submitters, no conflicts|1","1025430|NM_001854.4(COL11A1):c.3556G>T (p.Gly1186Cys)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1027556|NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1027557|NM_001854.4(COL11A1):c.1314G>A (p.Met438Ile)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1029385|NM_001854.4(COL11A1):c.1684-1G>C|single nucleotide variant|Likely pathogenic|COL11A1|criteria provided, single submitter|1","1029386|NM_001854.4(COL11A1):c.5288A>G (p.Tyr1763Cys)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, multiple submitters, no conflicts|1","1032776|NM_001854.4(COL11A1):c.3816+2dup|Duplication|Pathogenic/Likely pathogenic|COL11A1|criteria provided, multiple submitters, no conflicts|1","1032777|NM_001854.4(COL11A1):c.898-185T>C|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1034660|NM_001854.4(COL11A1):c.2246C>T (p.Pro749Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1035417|NM_001854.4(COL11A1):c.1564C>A (p.Gln522Lys)|single nucleotide variant|Benign|COL11A1|criteria provided, single submitter|1","1035419|NM_001854.4(COL11A1):c.4091C>A (p.Pro1364His)|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1035698|NM_001854.4(COL11A1):c.1846-7T>A|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1037349|NM_001854.4(COL11A1):c.2378G>A (p.Gly793Asp)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1037805|NM_001854.4(COL11A1):c.4328A>C (p.Lys1443Thr)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1038628|NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1040666|NM_001854.4(COL11A1):c.3417C>T (p.Ser1139=)|single nucleotide variant|Benign|COL11A1|criteria provided, single submitter|1","1043430|NM_001854.4(COL11A1):c.2780T>C (p.Val927Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1044493|NM_001854.4(COL11A1):c.3978+4A>G|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1047474|NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, multiple submitters, no conflicts|1","1050105|NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1052168|NM_001854.4(COL11A1):c.1493G>A (p.Arg498His)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1052645|NM_001854.4(COL11A1):c.602A>G (p.Asn201Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1053953|NM_001854.4(COL11A1):c.4249G>A (p.Gly1417Arg)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, multiple submitters, no conflicts|1","1056100|NM_001854.4(COL11A1):c.5317C>A (p.Pro1773Thr)|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1056854|NM_001854.4(COL11A1):c.1262C>T (p.Ala421Val)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1056960|NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1057367|NM_001854.4(COL11A1):c.1244G>A (p.Ser415Asn)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, multiple submitters, no conflicts|1","1060215|NM_001854.4(COL11A1):c.983C>A (p.Thr328Lys)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1060287|NM_001854.4(COL11A1):c.4388C>A (p.Pro1463His)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1062883|NM_001854.4(COL11A1):c.947G>A (p.Ser316Asn)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1063851|NM_001854.4(COL11A1):c.3319C>G (p.Gln1107Glu)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1064929|NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1064930|NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1064982|NM_001854.4(COL11A1):c.3472G>T (p.Val1158Phe)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1065032|NM_001854.4(COL11A1):c.5359G>A (p.Asp1787Asn)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1065055|NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1065087|NM_001854.4(COL11A1):c.5274+4A>C|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, multiple submitters, no conflicts|1","1065092|NM_001854.4(COL11A1):c.4691A>G (p.Asp1564Gly)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1067188|NM_001854.4(COL11A1):c.4002_4010del (p.Asp1334_Gly1336del)|Deletion|Likely pathogenic|COL11A1|criteria provided, single submitter|1","1068130|NC_000001.10:g.(?_103380260)_(103548528_?)del|Deletion|Pathogenic|COL11A1|criteria provided, single submitter|1","1068624|NM_001854.4(COL11A1):c.5009_5013del (p.Ser1670fs)|Deletion|Pathogenic|COL11A1|criteria provided, single submitter|1","1075485|NM_001854.4(COL11A1):c.2808+3_2808+6del|Deletion|Pathogenic|COL11A1|criteria provided, single submitter|1","1080781|NM_001854.4(COL11A1):c.4971+11A>G|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1084797|NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1089460|NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1091654|NM_001854.4(COL11A1):c.5304T>C (p.Ile1768=)|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1105830|NM_001854.4(COL11A1):c.913G>T (p.Asp305Tyr)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1106838|NM_001854.4(COL11A1):c.687C>G (p.Pro229=)|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1107484|NM_001854.4(COL11A1):c.822G>A (p.Gly274=)|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1109471|NM_001854.4(COL11A1):c.652-15_652-14insTTG|Insertion|Likely benign|COL11A1|criteria provided, single submitter|1","1113661|NM_001854.4(COL11A1):c.4519-10C>A|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1118069|NM_001854.4(COL11A1):c.4767C>T (p.Asp1589=)|single nucleotide variant|Likely benign|COL11A1|criteria provided, multiple submitters, no conflicts|1","1119565|NM_001854.4(COL11A1):c.2502+16del|Deletion|Likely benign|COL11A1|criteria provided, multiple submitters, no conflicts|1","1119973|NM_001854.4(COL11A1):c.494A>T (p.His165Leu)|single nucleotide variant|Uncertain significance|COL11A1|criteria provided, single submitter|1","1121606|NM_001854.4(COL11A1):c.456C>A (p.Pro152=)|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1136913|NM_001854.4(COL11A1):c.3492+7A>G|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1137995|NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1141105|NM_001854.4(COL11A1):c.771G>A (p.Gln257=)|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1142873|NM_001854.4(COL11A1):c.4341C>A (p.Gly1447=)|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1149332|NM_001854.4(COL11A1):c.1945-7C>T|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1150902|NM_001854.4(COL11A1):c.652-19del|Deletion|Likely benign|COL11A1|criteria provided, single submitter|1","1150955|NM_001854.4(COL11A1):c.2809-6T>C|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1151636|NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1152417|NM_001854.4(COL11A1):c.652-18T>G|single nucleotide variant|Likely benign|COL11A1|criteria provided, multiple submitters, no conflicts|1","1154863|NM_001854.4(COL11A1):c.3925-10G>A|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1155611|NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu)|single nucleotide variant|Conflicting classifications of pathogenicity|COL11A1|criteria provided, conflicting classifications|1","1158066|NM_001854.4(COL11A1):c.2280C>T (p.Gly760=)|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1164537|NM_001854.4(COL11A1):c.612G>T (p.Thr204=)|single nucleotide variant|Benign/Likely benign|COL11A1|criteria provided, multiple submitters, no conflicts|1","1167375|NM_001854.4(COL11A1):c.652-6_652-5insTTC|Insertion|Benign/Likely benign|COL11A1|criteria provided, multiple submitters, no conflicts|1","1169323|NM_001854.4(COL11A1):c.4032+16A>G|single nucleotide variant|Benign/Likely benign|COL11A1|criteria provided, multiple submitters, no conflicts|1","1169640|NM_001854.4(COL11A1):c.1246-9A>C|single nucleotide variant|Benign/Likely benign|COL11A1|criteria provided, multiple submitters, no conflicts|1","1172516|NM_001854.4(COL11A1):c.2287G>T (p.Gly763Ter)|single nucleotide variant|Likely pathogenic|COL11A1|criteria provided, single submitter|1","1174279|NM_001854.4(COL11A1):c.2394+203T>C|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1174328|NM_001854.4(COL11A1):c.2197-262A>G|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1174529|NC_000001.10:g.(103388956_103400026)_(104094395_?)del|Deletion|Likely pathogenic|COL11A1|criteria provided, single submitter|1","1175207|NM_001854.4(COL11A1):c.652-18_652-16dup|Duplication|Benign|COL11A1|criteria provided, multiple submitters, no conflicts|1","1175403|NM_001854.4(COL11A1):c.4710T>C (p.Leu1570=)|single nucleotide variant|Likely benign|COL11A1|criteria provided, single submitter|1","1175556|NM_001854.4(COL11A1):c.4971+102T>A|single nucleotide variant|Benign|COL11A1|criteria provided, multiple submitters, no conflicts|1","1175708|NM_001854.4(COL11A1):c.4519-2del|Deletion|Pathogenic|COL11A1|criteria provided, single submitter|1","1177764|NM_001854.4(COL11A1):c.4608+199G>A|single nucleotide variant|Benign|COL11A1|criteria provided, single submitter|1","1178155|NM_001854.4(COL11A1):c.1998+162T>C|single nucleotide variant|Benign|COL11A1|criteria provided, multiple submitters, no conflicts|1"]},{"input":"MATN3","source":"HGNC:6909|matrilin 3","targets":["1004236|NM_002381.5(MATN3):c.332A>T (p.Asp111Val)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1011244|NM_002381.5(MATN3):c.626G>C (p.Arg209Pro)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1019269|NM_002381.5(MATN3):c.323G>C (p.Arg108Pro)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1023438|NM_002381.5(MATN3):c.368C>A (p.Ala123Glu)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1047857|NM_002381.5(MATN3):c.1122A>T (p.Glu374Asp)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1051982|NM_002381.5(MATN3):c.903G>C (p.Lys301Asn)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1060234|NM_002381.5(MATN3):c.416C>G (p.Ala139Gly)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1062861|NM_002381.5(MATN3):c.437T>C (p.Leu146Pro)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1078941|NM_002381.5(MATN3):c.1373T>A (p.Val458Asp)|single nucleotide variant|Conflicting classifications of pathogenicity|MATN3|criteria provided, conflicting classifications|2","1091911|NM_002381.5(MATN3):c.1116T>C (p.His372=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1095869|NM_002381.5(MATN3):c.480C>G (p.Thr160=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1107824|NM_002381.5(MATN3):c.939C>T (p.Asn313=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1157384|NM_002381.5(MATN3):c.981C>T (p.Gly327=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1181689|NC_000002.12:g.20012722_20012723insTGCCCCGCCC|Insertion|Benign|MATN3|criteria provided, single submitter|2","1224469|NM_002381.5(MATN3):c.626G>A (p.Arg209Gln)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1225047|NM_002381.5(MATN3):c.916+184A>G|single nucleotide variant|Benign|MATN3|criteria provided, single submitter|2","1228375|NM_002381.5(MATN3):c.477C>T (p.Gly159=)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1242748|NM_002381.5(MATN3):c.917-111GT[17]|Microsatellite|Benign|MATN3|criteria provided, single submitter|2","1245800|NM_002381.5(MATN3):c.917-81A>G|single nucleotide variant|Benign|MATN3|criteria provided, multiple submitters, no conflicts|2","1246717|NM_002381.5(MATN3):c.917-111GT[20]|Microsatellite|Benign|MATN3|criteria provided, single submitter|2","1251210|NM_002381.5(MATN3):c.916+111T>C|single nucleotide variant|Benign|MATN3|criteria provided, multiple submitters, no conflicts|2","1253495|NC_000002.12:g.20012715CCCCG[5]|Microsatellite|Benign|MATN3|criteria provided, single submitter|2","1266892|NM_002381.5(MATN3):c.791-153A>G|single nucleotide variant|Benign|MATN3|criteria provided, multiple submitters, no conflicts|2","1273275|NM_002381.5(MATN3):c.1042+258C>T|single nucleotide variant|Benign|MATN3|criteria provided, single submitter|2","1273770|NM_002381.5(MATN3):c.1405+234T>C|single nucleotide variant|Benign|MATN3|criteria provided, single submitter|2","1276352|NC_000002.12:g.20012940del|Deletion|Benign|MATN3|criteria provided, single submitter|2","1277469|NM_002381.5(MATN3):c.790+81_790+82insTCTT|Insertion|Benign|MATN3|criteria provided, single submitter|2","1284029|NC_000002.12:g.20012886A>G|single nucleotide variant|Benign|MATN3|criteria provided, multiple submitters, no conflicts|2","1284132|NM_002381.5(MATN3):c.917-112_917-111insTCTGTGTGTGTG|Microsatellite|Benign|MATN3|criteria provided, single submitter|2","1294850|NM_002381.5(MATN3):c.917-111GT[16]|Microsatellite|Benign|MATN3|criteria provided, single submitter|2","1299496|NC_000002.12:g.19998776_20009244dup|Duplication|Pathogenic|MATN3|no assertion criteria provided|2","1303748|NM_002381.5(MATN3):c.733G>T (p.Val245Leu)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1305514|NM_002381.5(MATN3):c.1439A>T (p.Glu480Val)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1309878|NM_002381.5(MATN3):c.338T>G (p.Leu113Arg)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1329477|NM_002381.5(MATN3):c.284G>A (p.Arg95Gln)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1335378|NM_002381.5(MATN3):c.1006G>A (p.Gly336Ser)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1347350|NM_002381.5(MATN3):c.757A>G (p.Lys253Glu)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1347783|NM_002381.5(MATN3):c.30C>T (p.Leu10=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1352147|NM_002381.5(MATN3):c.872_873del (p.Glu290_Cys291insTer)|Microsatellite|Uncertain significance|MATN3|criteria provided, single submitter|2","1353810|NM_002381.5(MATN3):c.1290T>G (p.Cys430Trp)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1383151|NM_002381.5(MATN3):c.199G>A (p.Glu67Lys)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1384545|NM_002381.5(MATN3):c.1105G>C (p.Gly369Arg)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1387604|NM_002381.5(MATN3):c.497T>C (p.Ile166Thr)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1389383|NM_002381.5(MATN3):c.56C>G (p.Pro19Arg)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1390663|NM_002381.5(MATN3):c.25C>T (p.Arg9Cys)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1404464|NM_002381.5(MATN3):c.59T>C (p.Leu20Pro)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1405779|NM_002381.5(MATN3):c.838A>C (p.Ile280Leu)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1414422|NM_002381.5(MATN3):c.88C>G (p.Pro30Ala)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1424250|NM_002381.5(MATN3):c.1042+6T>C|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1429571|NM_002381.5(MATN3):c.881G>A (p.Gly294Glu)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1435438|NM_002381.5(MATN3):c.83C>T (p.Pro28Leu)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1437755|NM_002381.5(MATN3):c.127G>A (p.Gly43Ser)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1449969|NM_002381.5(MATN3):c.1456C>T (p.Arg486Cys)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1457592|NM_002381.5(MATN3):c.1083C>A (p.His361Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|MATN3|criteria provided, conflicting classifications|2","1480027|NM_002381.5(MATN3):c.1285A>G (p.Thr429Ala)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1496461|NM_002381.5(MATN3):c.41T>G (p.Leu14Arg)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1497949|NM_002381.5(MATN3):c.881del (p.Gly294fs)|Deletion|Uncertain significance|MATN3|criteria provided, single submitter|2","1506836|NM_002381.5(MATN3):c.355G>A (p.Asp119Asn)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1509102|NM_002381.5(MATN3):c.851A>G (p.Glu284Gly)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1533556|NM_002381.5(MATN3):c.1096G>T (p.Asp366Tyr)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1534251|NM_002381.5(MATN3):c.1380G>A (p.Ser460=)|single nucleotide variant|Benign|MATN3|criteria provided, single submitter|2","1548371|NM_002381.5(MATN3):c.224-16G>A|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1564951|NM_002381.5(MATN3):c.42C>G (p.Leu14=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1565669|NM_002381.5(MATN3):c.683C>T (p.Ala228Val)|single nucleotide variant|Benign|MATN3|criteria provided, single submitter|2","1569834|NM_002381.5(MATN3):c.1406-10_1406-8del|Microsatellite|Likely benign|MATN3|criteria provided, single submitter|2","1579437|NM_002381.5(MATN3):c.1230C>T (p.Ala410=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1591841|NM_002381.5(MATN3):c.759A>G (p.Lys253=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1599297|NM_002381.5(MATN3):c.885C>T (p.Tyr295=)|single nucleotide variant|Benign|MATN3|criteria provided, single submitter|2","1631599|NM_002381.5(MATN3):c.684G>A (p.Ala228=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1640630|NM_002381.5(MATN3):c.916G>C (p.Ala306Pro)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1641566|NM_002381.5(MATN3):c.621G>A (p.Ala207=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1642858|NM_002381.5(MATN3):c.732C>T (p.Tyr244=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1646072|NM_002381.5(MATN3):c.663C>T (p.Gly221=)|single nucleotide variant|Benign/Likely benign|MATN3|criteria provided, multiple submitters, no conflicts|2","1666628|NM_002381.5(MATN3):c.1295-16C>T|single nucleotide variant|Benign|MATN3|criteria provided, single submitter|2","1668649|NM_002381.5(MATN3):c.790+11C>T|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1675209|NM_002381.5(MATN3):c.400G>A (p.Glu134Lys)|single nucleotide variant|Likely pathogenic|MATN3|criteria provided, single submitter|2","1675210|NM_002381.5(MATN3):c.437T>G (p.Leu146Arg)|single nucleotide variant|not provided|MATN3|no classification provided|2","1675211|NM_002381.5(MATN3):c.513_530del (p.Asp171_Val176del)|Deletion|not provided|MATN3|no classification provided|2","1675212|NM_002381.5(MATN3):c.575T>A (p.Ile192Asn)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1675214|NM_002381.5(MATN3):c.584C>A (p.Thr195Lys)|single nucleotide variant|not provided|MATN3|no classification provided|2","1675215|NM_002381.5(MATN3):c.652T>A (p.Tyr218Asn)|single nucleotide variant|not provided|MATN3|no classification provided|2","1675216|NM_002381.5(MATN3):c.693G>C (p.Lys231Asn)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1683458|NM_002381.5(MATN3):c.368C>T (p.Ala123Val)|single nucleotide variant|Likely pathogenic|MATN3|criteria provided, single submitter|2","1695676|NM_002381.5(MATN3):c.326T>A (p.Ile109Lys)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1702522|NM_002381.5(MATN3):c.962G>C (p.Cys321Ser)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1705083|NM_002381.5(MATN3):c.541C>G (p.Arg181Gly)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1714237|NM_002381.5(MATN3):c.886A>T (p.Thr296Ser)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1719271|NM_002381.5(MATN3):c.174C>G (p.Asp58Glu)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1808597|GRCh37/hg19 2p24.1(chr2:19866960-20210081)x3|copy number gain|Uncertain significance|MATN3|criteria provided, single submitter|2","1898617|NM_002381.5(MATN3):c.916+12G>A|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1902581|NM_002381.5(MATN3):c.1015T>A (p.Leu339Met)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","1931936|NM_002381.5(MATN3):c.898G>A (p.Asp300Asn)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","195169|NM_002381.5(MATN3):c.447C>T (p.Ala149=)|single nucleotide variant|Benign|MATN3|criteria provided, multiple submitters, no conflicts|2","195170|NM_002381.5(MATN3):c.615G>A (p.Glu205=)|single nucleotide variant|Benign|MATN3|criteria provided, multiple submitters, no conflicts|2","195171|NM_002381.5(MATN3):c.518C>A (p.Ala173Asp)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","196341|NM_002381.5(MATN3):c.792G>A (p.Ala264=)|single nucleotide variant|Conflicting classifications of pathogenicity|MATN3|criteria provided, conflicting classifications|2","1964390|NM_002381.5(MATN3):c.399C>T (p.Ile133=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2","1980948|NM_002381.5(MATN3):c.789_790dup (p.Ala264fs)|Microsatellite|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1984059|NM_002381.5(MATN3):c.620C>T (p.Ala207Val)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","1986524|NM_002381.5(MATN3):c.972C>T (p.Asp324=)|single nucleotide variant|Likely benign|MATN3|criteria provided, single submitter|2"]},{"input":"FRZB","source":"HGNC:3959|frizzled related protein","targets":["2246124|NM_001463.4(FRZB):c.140C>T (p.Pro47Leu)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2276084|NM_001463.4(FRZB):c.367C>T (p.Leu123Phe)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2345739|NM_001463.4(FRZB):c.791G>A (p.Arg264His)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2359174|NM_001463.4(FRZB):c.881G>A (p.Arg294His)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2361265|NM_001463.4(FRZB):c.578A>G (p.Asn193Ser)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2374058|NM_001463.4(FRZB):c.847G>A (p.Gly283Ser)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2394488|NM_001463.4(FRZB):c.787G>A (p.Glu263Lys)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2405417|NM_001463.4(FRZB):c.293T>C (p.Ile98Thr)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2459018|NM_001463.4(FRZB):c.433G>A (p.Gly145Ser)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2461729|NM_001463.4(FRZB):c.790C>T (p.Arg264Cys)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2463711|NM_001463.4(FRZB):c.715A>G (p.Thr239Ala)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2475348|NM_001463.4(FRZB):c.815G>C (p.Gly272Ala)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2513148|NM_001463.4(FRZB):c.707A>G (p.Asn236Ser)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2522815|NM_001463.4(FRZB):c.687C>A (p.Asn229Lys)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2556599|NM_001463.4(FRZB):c.556A>G (p.Thr186Ala)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2616363|NM_001463.4(FRZB):c.593T>C (p.Val198Ala)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","2651736|NM_001463.4(FRZB):c.450C>A (p.Pro150=)|single nucleotide variant|Likely benign|FRZB|criteria provided, single submitter|2","3039181|NM_001463.4(FRZB):c.753T>C (p.Asn251=)|single nucleotide variant|Likely benign|FRZB|no assertion criteria provided|2","3039483|NM_001463.4(FRZB):c.450C>T (p.Pro150=)|single nucleotide variant|Likely benign|FRZB|no assertion criteria provided|2","3043566|NM_001463.4(FRZB):c.234C>T (p.Thr78=)|single nucleotide variant|Likely benign|FRZB|no assertion criteria provided|2","3097114|NM_001463.4(FRZB):c.115C>G (p.Arg39Gly)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3097115|NM_001463.4(FRZB):c.244C>T (p.Pro82Ser)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3097116|NM_001463.4(FRZB):c.365T>A (p.Ile122Lys)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3097117|NM_001463.4(FRZB):c.564G>T (p.Lys188Asn)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3097118|NM_001463.4(FRZB):c.76C>T (p.Arg26Trp)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3279991|NM_001463.4(FRZB):c.124C>G (p.Leu42Val)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3279992|NM_001463.4(FRZB):c.752A>G (p.Asn251Ser)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3517422|NM_001463.4(FRZB):c.661G>A (p.Glu221Lys)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3517423|NM_001463.4(FRZB):c.341G>T (p.Arg114Leu)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3517424|NM_001463.4(FRZB):c.272T>G (p.Met91Arg)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3517425|NM_001463.4(FRZB):c.622A>G (p.Thr208Ala)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3517426|NM_001463.4(FRZB):c.463A>G (p.Thr155Ala)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3517427|NM_001463.4(FRZB):c.613G>A (p.Glu205Lys)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3517429|NM_001463.4(FRZB):c.911G>A (p.Ser304Asn)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3851867|NM_001463.4(FRZB):c.476C>T (p.Ala159Val)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3851869|NM_001463.4(FRZB):c.694C>T (p.Arg232Trp)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3851870|NM_001463.4(FRZB):c.122C>G (p.Pro41Arg)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3851871|NM_001463.4(FRZB):c.878T>C (p.Leu293Pro)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3851872|NM_001463.4(FRZB):c.895A>G (p.Ser299Gly)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","3851873|NM_001463.4(FRZB):c.807G>T (p.Leu269Phe)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4026968|NM_001463.4(FRZB):c.912C>A (p.Ser304Arg)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4026969|NM_001463.4(FRZB):c.529C>T (p.Arg177Cys)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4026972|NM_001463.4(FRZB):c.277G>T (p.Ala93Ser)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4260153|NM_001463.4(FRZB):c.971G>A (p.Arg324His)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4260154|NM_001463.4(FRZB):c.139C>A (p.Pro47Thr)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4260155|NM_001463.4(FRZB):c.49C>T (p.Leu17Phe)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4260156|NM_001463.4(FRZB):c.661G>C (p.Glu221Gln)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4260157|NM_001463.4(FRZB):c.292A>G (p.Ile98Val)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4260158|NM_001463.4(FRZB):c.97G>T (p.Ala33Ser)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4278361|NM_001463.4(FRZB):c.861+1G>T|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4506898|NM_001463.4(FRZB):c.797+173C>T|single nucleotide variant||FRZB||2","4506899|NM_001463.4(FRZB):c.747T>A (p.Asn249Lys)|single nucleotide variant||FRZB||2","4506900|NM_001463.4(FRZB):c.695G>A (p.Arg232Gln)|single nucleotide variant||FRZB||2","4506901|NM_001463.4(FRZB):c.598C>A (p.Arg200=)|single nucleotide variant||FRZB||2","4506902|NM_001463.4(FRZB):c.592+28A>G|single nucleotide variant||FRZB||2","4506903|NM_001463.4(FRZB):c.537A>G (p.Lys179=)|single nucleotide variant||FRZB||2","4506904|NM_001463.4(FRZB):c.526+226G>A|single nucleotide variant||FRZB||2","4506905|NM_001463.4(FRZB):c.479-2A>T|single nucleotide variant||FRZB||2","4669900|NM_001463.4(FRZB):c.674C>G (p.Ser225Cys)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4669901|NM_001463.4(FRZB):c.233C>T (p.Thr78Ile)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","4669902|NM_001463.4(FRZB):c.281C>G (p.Pro94Arg)|single nucleotide variant|Uncertain significance|FRZB|criteria provided, single submitter|2","5220|NM_001463.4(FRZB):c.970C>G (p.Arg324Gly)|single nucleotide variant|Benign; risk factor|FRZB|no assertion criteria provided|2","5221|NM_001463.4(FRZB):c.598C>T (p.Arg200Trp)|single nucleotide variant|Benign; risk factor|FRZB|no assertion criteria provided|2","522886|NM_001463.4(FRZB):c.282del (p.Ile95fs)|Deletion|Uncertain significance|FRZB|criteria provided, single submitter|2","719233|NM_001463.4(FRZB):c.861+6C>A|single nucleotide variant|Likely benign|FRZB|criteria provided, single submitter|2","774292|NM_001463.4(FRZB):c.906T>C (p.Asp302=)|single nucleotide variant|Benign|FRZB|criteria provided, multiple submitters, no conflicts|2","774293|NM_001463.4(FRZB):c.872T>C (p.Met291Thr)|single nucleotide variant|Benign/Likely benign|FRZB|criteria provided, multiple submitters, no conflicts|2"]},{"input":"COL2A1","source":"HGNC:2200|collagen type II alpha 1 chain","targets":["1000286|NM_001844.5(COL2A1):c.959C>T (p.Pro320Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1001920|NM_001844.5(COL2A1):c.3843C>T (p.Arg1281=)|single nucleotide variant|Benign/Likely benign|COL2A1|criteria provided, multiple submitters, no conflicts|12","1002508|NM_001844.5(COL2A1):c.4397C>A (p.Ala1466Glu)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1002732|NM_001844.5(COL2A1):c.2570A>G (p.Lys857Arg)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1003699|NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1003871|NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1004555|NM_001844.5(COL2A1):c.4020G>C (p.Lys1340Asn)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1004902|NM_001844.5(COL2A1):c.2678C>T (p.Pro893Leu)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1008593|NM_001844.5(COL2A1):c.1880G>A (p.Gly627Asp)|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1010760|NC_000012.11:g.(?_48390321)_(48391857_?)del|Deletion|Uncertain significance|COL2A1|criteria provided, single submitter|12","1011511|NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1013345|NM_001844.5(COL2A1):c.4291T>C (p.Tyr1431His)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1013346|NM_001844.5(COL2A1):c.2147A>G (p.Gln716Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1013347|NM_001844.5(COL2A1):c.1888G>A (p.Gly630Ser)|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, multiple submitters, no conflicts|12","1013348|NM_001844.5(COL2A1):c.623C>T (p.Pro208Leu)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1013349|NM_001844.5(COL2A1):c.430-23_441del|Deletion|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1013350|NM_001844.5(COL2A1):c.376-1G>A|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, multiple submitters, no conflicts|12","1015621|NM_001844.5(COL2A1):c.1833C>T (p.Asn611=)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1015924|NM_001844.5(COL2A1):c.3259G>C (p.Asp1087His)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1016139|NM_001844.5(COL2A1):c.320G>C (p.Gly107Ala)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1016382|NM_001844.5(COL2A1):c.2812C>A (p.Pro938Thr)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1016583|NM_001844.5(COL2A1):c.3172C>T (p.Arg1058Cys)|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1016643|NM_001844.5(COL2A1):c.388G>C (p.Glu130Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1018407|NM_001844.5(COL2A1):c.8G>T (p.Arg3Leu)|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1018959|NM_001844.5(COL2A1):c.553GGA[1] (p.Gly186del)|Microsatellite|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1019069|NM_001844.5(COL2A1):c.4348A>G (p.Ile1450Val)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1019146|NM_001844.5(COL2A1):c.4255G>A (p.Val1419Met)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1019813|NM_001844.5(COL2A1):c.3084G>A (p.Thr1028=)|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1019828|NM_001844.5(COL2A1):c.2733+19A>G|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1020209|NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1020594|NM_001844.5(COL2A1):c.1023+4A>G|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1021794|NM_001844.5(COL2A1):c.436C>T (p.Pro146Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1022633|NM_001844.5(COL2A1):c.3119C>T (p.Pro1040Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1023113|NM_001844.5(COL2A1):c.2165C>G (p.Pro722Arg)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1023257|NM_001844.5(COL2A1):c.2433T>A (p.Pro811=)|single nucleotide variant|Likely benign|COL2A1|criteria provided, multiple submitters, no conflicts|12","1023544|NM_001844.5(COL2A1):c.3439C>G (p.Pro1147Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1024046|NM_001844.5(COL2A1):c.3760G>A (p.Glu1254Lys)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1024256|NM_001844.5(COL2A1):c.7C>G (p.Arg3Gly)|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1025327|NM_001844.5(COL2A1):c.1679G>A (p.Arg560Gln)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1025562|NM_001844.5(COL2A1):c.196G>A (p.Asp66Asn)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1025956|NM_001844.5(COL2A1):c.2119C>G (p.Arg707Gly)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1027207|NM_001844.5(COL2A1):c.445C>T (p.Arg149Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1027389|NM_001844.5(COL2A1):c.2798G>A (p.Gly933Glu)|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1032007|NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1034846|NM_001844.5(COL2A1):c.4102C>T (p.Pro1368Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1035836|NM_001844.5(COL2A1):c.2452C>T (p.Arg818Cys)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1036292|NM_001844.5(COL2A1):c.3511C>G (p.Pro1171Ala)|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1036837|NM_001844.5(COL2A1):c.3757G>A (p.Ala1253Thr)|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1037085|NM_001844.5(COL2A1):c.2309T>G (p.Val770Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1038472|NM_001844.5(COL2A1):c.4256T>C (p.Val1419Ala)|single nucleotide variant|Benign|COL2A1|criteria provided, single submitter|12","1038958|NM_001844.5(COL2A1):c.4149G>A (p.Thr1383=)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1039265|NM_001844.5(COL2A1):c.1735G>A (p.Gly579Arg)|single nucleotide variant|Pathogenic|COL2A1|criteria provided, single submitter|12","1039402|NM_001844.5(COL2A1):c.3344G>A (p.Arg1115Lys)|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1039833|NM_001844.5(COL2A1):c.2458G>A (p.Ala820Thr)|single nucleotide variant|Benign|COL2A1|criteria provided, single submitter|12","1041678|NM_001844.5(COL2A1):c.3165+4_3165+7del|Deletion|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1042659|NM_001844.5(COL2A1):c.1996-10C>A|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1043292|NM_001844.5(COL2A1):c.73G>A (p.Gly25Ser)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1044714|NM_001844.5(COL2A1):c.3980A>G (p.Asn1327Ser)|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1044776|NM_001844.5(COL2A1):c.3827G>T (p.Arg1276Leu)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1047324|NM_001844.5(COL2A1):c.1678C>T (p.Arg560Trp)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1047648|NM_001844.5(COL2A1):c.3317G>A (p.Arg1106Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1048782|NM_001844.5(COL2A1):c.1023+1G>C|single nucleotide variant|Pathogenic|COL2A1|criteria provided, single submitter|12","1051235|NM_001844.5(COL2A1):c.4247C>T (p.Ser1416Phe)|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1051503|NM_001844.5(COL2A1):c.2463G>A (p.Pro821=)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1051692|NM_001844.5(COL2A1):c.2018C>T (p.Pro673Leu)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1051996|NM_001844.5(COL2A1):c.4091A>C (p.Asp1364Ala)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1052674|NM_001844.5(COL2A1):c.3287C>T (p.Pro1096Leu)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1052773|NM_001844.5(COL2A1):c.4325C>A (p.Thr1442Asn)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1052876|NM_001844.5(COL2A1):c.919G>A (p.Val307Met)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1053019|NM_001844.5(COL2A1):c.2629C>T (p.Pro877Ser)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1053398|NM_001844.5(COL2A1):c.581C>T (p.Ala194Val)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1053804|NM_001844.5(COL2A1):c.3756C>A (p.Asp1252Glu)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1053996|NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1056071|NM_001844.5(COL2A1):c.224G>T (p.Cys75Phe)|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1059472|NM_001844.5(COL2A1):c.1372C>T (p.Pro458Ser)|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1059603|NM_001844.5(COL2A1):c.3328-20G>A|single nucleotide variant|Likely benign|COL2A1|criteria provided, single submitter|12","1059909|NM_001844.5(COL2A1):c.3478T>G (p.Ser1160Ala)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1061827|NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1062723|NM_001844.5(COL2A1):c.3080T>C (p.Leu1027Pro)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, single submitter|12","1062852|NM_001844.5(COL2A1):c.1661C>T (p.Pro554Leu)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1063359|NM_001844.5(COL2A1):c.1400A>G (p.Gln467Arg)|single nucleotide variant|Benign|COL2A1|criteria provided, single submitter|12","1063765|NM_001844.5(COL2A1):c.2219C>A (p.Pro740His)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1064731|NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn)|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1064732|NM_001844.5(COL2A1):c.4013G>A (p.Ser1338Asn)|single nucleotide variant|Uncertain significance|COL2A1|criteria provided, multiple submitters, no conflicts|12","1064931|NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1065332|NM_001844.5(COL2A1):c.2756C>T (p.Pro919Leu)|single nucleotide variant|Likely pathogenic|COL2A1|no assertion criteria provided|12","1065456|NM_001844.5(COL2A1):c.1331G>A (p.Gly444Asp)|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1065720|NM_001844.5(COL2A1):c.3757dup (p.Ala1253fs)|Duplication|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1066051|NM_001844.5(COL2A1):c.1789G>A (p.Gly597Arg)|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1066078|NM_001844.5(COL2A1):c.3266G>A (p.Gly1089Glu)|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1066127|NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|COL2A1|criteria provided, conflicting classifications|12","1066147|NM_001844.5(COL2A1):c.3274-2A>G|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1066148|NM_001844.5(COL2A1):c.2752G>T (p.Gly918Cys)|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1066244|NM_001844.5(COL2A1):c.3166-2_3166-1del|Deletion|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1066365|NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg)|single nucleotide variant|Pathogenic/Likely pathogenic|COL2A1|criteria provided, multiple submitters, no conflicts|12","1066650|NM_001844.5(COL2A1):c.2042G>T (p.Gly681Val)|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1066655|NM_001844.5(COL2A1):c.3490-2A>G|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1067209|NM_001844.5(COL2A1):c.683G>A (p.Gly228Asp)|single nucleotide variant|Likely pathogenic|COL2A1|criteria provided, single submitter|12","1067210|NM_001844.5(COL2A1):c.1996-9G>A|single nucleotide variant|Pathogenic/Likely pathogenic|COL2A1|criteria provided, multiple submitters, no conflicts|12","1067287|NM_001844.5(COL2A1):c.2356-1G>A|single nucleotide variant|Pathogenic|COL2A1|criteria provided, single submitter|12"]},{"input":"SMAD3","source":"HGNC:6769|SMAD family member 3","targets":["1000654|NM_005902.4(SMAD3):c.1250C>T (p.Pro417Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|SMAD3|criteria provided, conflicting classifications|15","1005821|NM_005902.4(SMAD3):c.1062G>T (p.Gln354His)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1010026|NM_005902.4(SMAD3):c.597C>T (p.Ser199=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1012011|NM_005902.4(SMAD3):c.872-6_872-5del|Microsatellite|Uncertain significance|SMAD3|criteria provided, single submitter|15","1015265|NM_005902.4(SMAD3):c.1228_1229insATGGCCTTTGCAGTGCCA (p.Val410delinsAspGlyLeuCysSerAlaIle)|Insertion|Uncertain significance|SMAD3|criteria provided, single submitter|15","1015493|NM_005902.4(SMAD3):c.776G>A (p.Gly259Asp)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1024570|NM_005902.4(SMAD3):c.212T>C (p.Leu71Pro)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1041562|NM_005902.4(SMAD3):c.769G>A (p.Val257Met)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1041564|NM_005902.4(SMAD3):c.1112C>A (p.Thr371Asn)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1044963|NM_005902.4(SMAD3):c.991G>A (p.Val331Ile)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1047830|NM_005902.4(SMAD3):c.239G>C (p.Arg80Pro)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1053066|NM_005902.4(SMAD3):c.596G>T (p.Ser199Ile)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1053739|NM_005902.4(SMAD3):c.157A>G (p.Lys53Glu)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1055868|NM_005902.4(SMAD3):c.1180T>G (p.Cys394Gly)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1058213|NM_005902.4(SMAD3):c.1029C>G (p.Phe343Leu)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1062796|NM_005902.4(SMAD3):c.206+5G>A|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1066678|NM_005902.4(SMAD3):c.785A>T (p.Asp262Val)|single nucleotide variant|Pathogenic|SMAD3|criteria provided, single submitter|15","1066957|NM_005902.4(SMAD3):c.209C>A (p.Ser70Tyr)|single nucleotide variant|Conflicting classifications of pathogenicity|SMAD3|criteria provided, conflicting classifications|15","1070950|NM_005902.4(SMAD3):c.862_869dup (p.Gly291fs)|Duplication|Pathogenic/Likely pathogenic|SMAD3|criteria provided, multiple submitters, no conflicts|15","1073400|NM_005902.4(SMAD3):c.1274C>G (p.Ser425Cys)|single nucleotide variant|Pathogenic|SMAD3|criteria provided, single submitter|15","1079646|NM_005902.4(SMAD3):c.1245C>A (p.Gly415=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1110610|NM_005902.4(SMAD3):c.987C>A (p.Ala329=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1124334|NM_005902.4(SMAD3):c.1154+9T>C|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1128227|NM_005902.4(SMAD3):c.750C>T (p.Ala250=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1130866|NM_005902.4(SMAD3):c.532+8C>A|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1137294|NM_005902.4(SMAD3):c.294C>T (p.His98=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1139743|NM_005902.4(SMAD3):c.207-9T>C|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1140671|NM_005902.4(SMAD3):c.63C>A (p.Gly21=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1147416|NM_005902.4(SMAD3):c.206+8C>A|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1154068|NM_005902.4(SMAD3):c.206+10C>T|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1171048|NM_005902.4(SMAD3):c.56A>G (p.Lys19Arg)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1171089|NM_005902.4(SMAD3):c.322C>A (p.Leu108Met)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1171195|NM_005902.4(SMAD3):c.1259G>A (p.Arg420His)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1171270|NM_005902.4(SMAD3):c.534G>A (p.Glu178=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1171415|NM_005902.4(SMAD3):c.604G>A (p.Ala202Thr)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1171555|NM_005902.4(SMAD3):c.660C>T (p.Asp220=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1171657|NM_005902.4(SMAD3):c.147C>T (p.Asp49=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1171693|NM_005902.4(SMAD3):c.198C>A (p.Thr66=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1171780|NM_005902.4(SMAD3):c.340A>G (p.Asn114Asp)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1172120|NM_005902.4(SMAD3):c.871+5G>A|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1172164|NM_005902.4(SMAD3):c.46C>G (p.Leu16Val)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1172454|NM_005902.4(SMAD3):c.444C>T (p.Ala148=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1172462|NM_005902.4(SMAD3):c.872-15C>A|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1172860|NM_005902.4(SMAD3):c.532+1G>C|single nucleotide variant|Likely pathogenic|SMAD3|criteria provided, multiple submitters, no conflicts|15","1186838|NM_005902.4(SMAD3):c.207-26797del|Deletion|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1187853|NM_005902.4(SMAD3):c.708C>T (p.Ser236=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1189437|NM_005902.4(SMAD3):c.533-690G>T|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1190123|NM_005902.4(SMAD3):c.872-94C>T|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1190422|NM_005902.4(SMAD3):c.1155-109C>T|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1190967|NM_005902.4(SMAD3):c.658+99C>T|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1196765|NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del)|Microsatellite|Likely pathogenic|SMAD3|criteria provided, multiple submitters, no conflicts|15","1203030|NM_005902.4(SMAD3):c.659-287G>A|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1204098|NM_005902.4(SMAD3):c.871+25C>A|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1204670|NM_005902.4(SMAD3):c.533-289G>A|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1207604|NM_005902.4(SMAD3):c.533-510A>G|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1208437|NM_005902.4(SMAD3):c.658+164C>T|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1208550|NM_005902.4(SMAD3):c.659-30A>G|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1208564|NM_005902.4(SMAD3):c.206+74G>A|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1209967|NM_005902.4(SMAD3):c.728G>C (p.Arg243Pro)|single nucleotide variant|Uncertain significance|SMAD3|no assertion criteria provided|15","1210651|NM_005902.4(SMAD3):c.607+65_607+73del|Microsatellite|Likely benign|SMAD3|criteria provided, single submitter|15","1213307|NM_005902.4(SMAD3):c.871+30del|Deletion|Likely benign|SMAD3|criteria provided, single submitter|15","1215540|NM_005902.4(SMAD3):c.607+166G>A|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1215592|NM_005902.4(SMAD3):c.658+58C>T|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1216049|NM_005902.4(SMAD3):c.1009+314C>T|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1218693|NM_005902.4(SMAD3):c.1155-160C>T|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1222384|NM_005902.4(SMAD3):c.1009+248C>T|single nucleotide variant|Benign|SMAD3|criteria provided, single submitter|15","1222397|NM_005902.4(SMAD3):c.532+128G>A|single nucleotide variant|Benign|SMAD3|criteria provided, single submitter|15","1225097|NM_005902.4(SMAD3):c.207-39000G>A|single nucleotide variant|Benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1225958|NM_005902.4(SMAD3):c.659-268TAAA[7]|Microsatellite|Benign|SMAD3|criteria provided, single submitter|15","1227452|NM_005902.4(SMAD3):c.533-104C>T|single nucleotide variant|Benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1231492|NM_005902.4(SMAD3):c.591C>T (p.Asn197=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1248988|NM_005902.4(SMAD3):c.659-268TAAA[10]|Microsatellite|Benign|SMAD3|criteria provided, single submitter|15","1254223|NM_005902.4(SMAD3):c.607+34C>A|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1254242|NM_005902.4(SMAD3):c.401-7C>A|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1254672|NM_005902.4(SMAD3):c.1010-1G>C|single nucleotide variant|Pathogenic/Likely pathogenic|SMAD3|criteria provided, multiple submitters, no conflicts|15","1256793|NM_005902.4(SMAD3):c.207-38842A>G|single nucleotide variant|Benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1257087|NM_005902.4(SMAD3):c.400+58dup|Duplication|Benign|SMAD3|criteria provided, single submitter|15","1264473|NM_005902.4(SMAD3):c.1155-55A>G|single nucleotide variant|Benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1272319|NM_005902.4(SMAD3):c.533-478T>C|single nucleotide variant|Benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1276989|NM_005902.4(SMAD3):c.207-39129G>A|single nucleotide variant|Benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1283102|NM_005902.4(SMAD3):c.1155-54C>T|single nucleotide variant|Benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1284999|NM_005902.4(SMAD3):c.1154+23A>C|single nucleotide variant|Likely benign|SMAD3|criteria provided, single submitter|15","1286538|NM_005902.4(SMAD3):c.659-268TAAA[11]|Microsatellite|Benign|SMAD3|criteria provided, single submitter|15","1288852|NM_005902.4(SMAD3):c.207-39028G>A|single nucleotide variant|Benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1289057|NM_005902.4(SMAD3):c.207-26896G>A|single nucleotide variant|Benign|SMAD3|criteria provided, single submitter|15","1289531|NM_005902.4(SMAD3):c.659-268TAAA[8]|Microsatellite|Benign|SMAD3|criteria provided, single submitter|15","1303248|NM_005902.4(SMAD3):c.1150T>C (p.Tyr384His)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1303261|NM_005902.4(SMAD3):c.317T>C (p.Met106Thr)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1303606|NM_005902.4(SMAD3):c.808T>C (p.Cys270Arg)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1304311|NM_005902.4(SMAD3):c.1033A>C (p.Asn345His)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1305567|NM_005902.4(SMAD3):c.1177C>G (p.Pro393Ala)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1306949|NM_005902.4(SMAD3):c.359T>A (p.Val120Asp)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1308896|NM_005902.4(SMAD3):c.179T>C (p.Val60Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|SMAD3|criteria provided, conflicting classifications|15","1314782|NM_005902.4(SMAD3):c.784G>A (p.Asp262Asn)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, multiple submitters, no conflicts|15","1328502|NM_005902.4(SMAD3):c.1151A>G (p.Tyr384Cys)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1329282|NM_005902.4(SMAD3):c.1132A>G (p.Lys378Glu)|single nucleotide variant|Uncertain significance|SMAD3|criteria provided, single submitter|15","1329283|NM_005902.4(SMAD3):c.1154+1G>A|single nucleotide variant|Pathogenic|SMAD3|criteria provided, single submitter|15","1329284|NM_005902.4(SMAD3):c.431_432del (p.Thr144fs)|Microsatellite|Likely pathogenic|SMAD3|criteria provided, single submitter|15","1329285|NM_005902.4(SMAD3):c.441G>T (p.Pro147=)|single nucleotide variant|Likely benign|SMAD3|criteria provided, multiple submitters, no conflicts|15","1329286|NM_005902.4(SMAD3):c.533-1G>A|single nucleotide variant|Conflicting classifications of pathogenicity|SMAD3|criteria provided, conflicting classifications|15"]},{"input":"TGFB1","source":"HGNC:11766|transforming growth factor beta 1","targets":["1003441|NM_000660.7(TGFB1):c.553C>T (p.Arg185Trp)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1007422|NM_000660.7(TGFB1):c.1014+17G>A|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1013166|NM_000660.7(TGFB1):c.256G>T (p.Asp86Tyr)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1021413|NM_000660.7(TGFB1):c.395A>G (p.Tyr132Cys)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1029928|NM_000660.7(TGFB1):c.715T>A (p.Phe239Ile)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1049659|NM_000660.7(TGFB1):c.613C>T (p.Arg205Trp)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1061718|NM_000660.7(TGFB1):c.934C>T (p.His312Tyr)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1166673|NM_000660.7(TGFB1):c.1015-8G>A|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1182159|NM_000660.7(TGFB1):c.516+148G>T|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1188105|NM_000660.7(TGFB1):c.356-174_356-173insT|Insertion|Likely benign|TGFB1|criteria provided, single submitter|19","1201092|NM_000660.7(TGFB1):c.516+150dup|Duplication|Likely benign|TGFB1|criteria provided, single submitter|19","1219337|NM_000660.7(TGFB1):c.634+28T>C|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1225478|NM_000660.7(TGFB1):c.516+299_516+307del|Deletion|Benign|TGFB1|criteria provided, single submitter|19","1230600|NM_000660.7(TGFB1):c.1014+286C>T|single nucleotide variant|Benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1231315|NM_000660.7(TGFB1):c.635-195T>G|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1243420|NM_000660.7(TGFB1):c.356-174A>T|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","12528|NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg)|single nucleotide variant|Pathogenic|TGFB1|no assertion criteria provided|19","12529|NM_000660.7(TGFB1):c.653G>A (p.Arg218His)|single nucleotide variant|Pathogenic/Likely pathogenic|TGFB1|criteria provided, multiple submitters, no conflicts|19","12530|NM_000660.7(TGFB1):c.667T>G (p.Cys223Gly)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","12531|NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys)|single nucleotide variant|Pathogenic|TGFB1|criteria provided, multiple submitters, no conflicts|19","12533|NM_000660.7(TGFB1):c.667T>C (p.Cys223Arg)|single nucleotide variant|Pathogenic|TGFB1|no assertion criteria provided|19","12534|NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)|single nucleotide variant|Benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1259350|NM_000660.7(TGFB1):c.576G>A (p.Ser192=)|single nucleotide variant|Benign/Likely benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1259955|NM_000660.7(TGFB1):c.356-314A>T|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1261994|NM_000660.7(TGFB1):c.860+51C>T|single nucleotide variant|Benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1268416|NM_000660.7(TGFB1):c.356-314A>C|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1274979|NM_000660.7(TGFB1):c.516+164del|Deletion|Benign|TGFB1|criteria provided, single submitter|19","1277654|NM_000660.7(TGFB1):c.356-164TAAA[10]|Microsatellite|Benign|TGFB1|criteria provided, single submitter|19","1278399|NM_000660.7(TGFB1):c.356-164TAAA[12]|Microsatellite|Benign|TGFB1|criteria provided, single submitter|19","1280232|NM_000660.7(TGFB1):c.356-25G>T|single nucleotide variant|Benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1280426|NM_000660.7(TGFB1):c.635-271_635-270del|Deletion|Benign|TGFB1|criteria provided, single submitter|19","1284065|NM_000660.7(TGFB1):c.517-273C>T|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1288925|NM_000660.7(TGFB1):c.516+114G>A|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1290698|NM_000660.7(TGFB1):c.635-270del|Deletion|Benign|TGFB1|criteria provided, single submitter|19","1306494|NM_000660.7(TGFB1):c.1031A>C (p.Asn344Thr)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1325512|NM_000660.7(TGFB1):c.399G>A (p.Met133Ile)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1346195|NM_000660.7(TGFB1):c.502G>A (p.Val168Met)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1347627|NM_000660.7(TGFB1):c.604G>A (p.Gly202Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1347999|NM_000660.7(TGFB1):c.99C>T (p.Cys33=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1348432|NM_000660.7(TGFB1):c.442G>A (p.Val148Met)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1352253|NM_000660.7(TGFB1):c.665A>T (p.His222Leu)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1355053|NM_000660.7(TGFB1):c.516+6G>T|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1356981|NM_000660.7(TGFB1):c.91T>G (p.Ser31Ala)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1358332|NM_000660.7(TGFB1):c.85G>C (p.Gly29Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1359501|NM_000660.7(TGFB1):c.1141A>C (p.Asn381His)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1365198|NM_000660.7(TGFB1):c.901G>C (p.Asp301His)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1373267|NC_000019.9:g.(?_41847768)_(41850789_?)dup|Duplication|Uncertain significance|TGFB1|criteria provided, single submitter|19","1375990|NM_000660.7(TGFB1):c.14GGCTGC[3] (p.Arg7_Leu8dup)|Microsatellite|Uncertain significance|TGFB1|criteria provided, single submitter|19","1377343|NM_000660.7(TGFB1):c.712+18G>A|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1379026|NM_000660.7(TGFB1):c.628C>T (p.Arg210Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|TGFB1|criteria provided, conflicting classifications|19","1380392|NM_000660.7(TGFB1):c.684G>T (p.Arg228Ser)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1382525|NM_000660.7(TGFB1):c.1013A>C (p.Lys338Thr)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1382552|NM_000660.7(TGFB1):c.1147A>T (p.Ile383Phe)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1383129|NM_000660.7(TGFB1):c.1004A>G (p.Gln335Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1383354|NM_000660.7(TGFB1):c.517A>G (p.Lys173Glu)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1383975|NM_000660.7(TGFB1):c.944A>G (p.Lys315Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1389042|NM_000660.7(TGFB1):c.718A>C (p.Thr240Pro)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1393985|NM_000660.7(TGFB1):c.29_37dup (p.Pro10_Leu12dup)|Duplication|Uncertain significance|TGFB1|criteria provided, single submitter|19","1411088|NM_000660.7(TGFB1):c.28_29insTGCTGCTGCTAC (p.Leu9_Pro10insLeuLeuLeuLeu)|Insertion|Uncertain significance|TGFB1|criteria provided, single submitter|19","1416735|NM_000660.7(TGFB1):c.832C>G (p.Arg278Gly)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1417381|NM_000660.7(TGFB1):c.32T>A (p.Leu11Gln)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1421136|NM_000660.7(TGFB1):c.529A>G (p.Asn177Asp)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1422888|NM_000660.7(TGFB1):c.718A>G (p.Thr240Ala)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1431578|NM_000660.7(TGFB1):c.722C>T (p.Thr241Ile)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1438953|NM_000660.7(TGFB1):c.386A>G (p.His129Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1439642|NM_000660.7(TGFB1):c.625A>C (p.Ser209Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1461638|NM_000660.7(TGFB1):c.86G>C (p.Gly29Ala)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1467482|NM_000660.7(TGFB1):c.791C>T (p.Pro264Leu)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1473460|NM_000660.7(TGFB1):c.29C>G (p.Pro10Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1475445|NM_000660.7(TGFB1):c.1153C>G (p.Arg385Gly)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1478546|NM_000660.7(TGFB1):c.841G>A (p.Asp281Asn)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1483405|NM_000660.7(TGFB1):c.552C>A (p.Asn184Lys)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1490438|NM_000660.7(TGFB1):c.779T>C (p.Leu260Pro)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1491287|NM_000660.7(TGFB1):c.482A>G (p.Lys161Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1491380|NM_000660.7(TGFB1):c.39_47dup (p.Pro14_Leu16dup)|Duplication|Uncertain significance|TGFB1|criteria provided, single submitter|19","1496976|NM_000660.7(TGFB1):c.867G>A (p.Thr289=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1498982|NM_000660.7(TGFB1):c.466C>T (p.Arg156Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|TGFB1|criteria provided, conflicting classifications|19","1502131|NM_000660.7(TGFB1):c.870GAA[1] (p.Lys291del)|Microsatellite|Uncertain significance|TGFB1|criteria provided, single submitter|19","1506364|NM_000660.7(TGFB1):c.893T>C (p.Leu298Pro)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1507123|NM_000660.7(TGFB1):c.1047C>T (p.Gly349=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1510529|NM_000660.7(TGFB1):c.629G>A (p.Arg210His)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1510573|NM_000660.7(TGFB1):c.1014+4C>T|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1516942|NM_000660.7(TGFB1):c.712+3G>A|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1518693|NM_000660.7(TGFB1):c.1014+5G>A|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1528495|NM_000660.7(TGFB1):c.441C>T (p.Pro147=)|single nucleotide variant|Benign/Likely benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1532501|NM_000660.7(TGFB1):c.1149C>T (p.Ile383=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1532502|NM_000660.7(TGFB1):c.712+17C>T|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1536753|NM_000660.7(TGFB1):c.1015-12C>T|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1542142|NM_000660.7(TGFB1):c.1014+15C>T|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1544439|NM_000660.7(TGFB1):c.792G>A (p.Pro264=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1545171|NM_000660.7(TGFB1):c.660C>T (p.Ser220=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1550109|NM_000660.7(TGFB1):c.517-16C>T|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1552986|NM_000660.7(TGFB1):c.356-4C>T|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1554662|NM_000660.7(TGFB1):c.516+14C>T|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1557574|NM_000660.7(TGFB1):c.936C>T (p.His312=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1558458|NM_000660.7(TGFB1):c.396T>C (p.Tyr132=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1562787|NM_000660.7(TGFB1):c.492G>A (p.Val164=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1568573|NM_000660.7(TGFB1):c.765G>A (p.Arg255=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1572306|NM_000660.7(TGFB1):c.36G>A (p.Leu12=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1573254|NM_000660.7(TGFB1):c.801G>A (p.Arg267=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19"]}]}