{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":7,"total":827,"mapped":9},"pagination":{"has_next":true,"next_token":"-1[]HGNC:2001,10,HGNC:2001,162,0][HGNC:11641,10,HGNC:11641,42,3][HGNC:1748,10,HGNC:1748,165,0][HGNC:7872,10,HGNC:7872,141,-1][HGNC:23044,10,HGNC:23044,110,0][HGNC:18173,10,HGNC:18173,79,1][HGNC:1071,10,HGNC:1071,41,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"SMAD7","source":"HGNC:6773|SMAD family member 7","targets":["1050390|NM_005904.4(SMAD7):c.1062G>A (p.Thr354=)|single nucleotide variant|Uncertain significance|SMAD7|no assertion criteria provided|18","1301682|NM_005904.4(SMAD7):c.625C>A (p.Pro209Thr)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","2247899|NM_005904.4(SMAD7):c.166G>A (p.Gly56Ser)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, multiple submitters, no conflicts|18","2273474|NM_005904.4(SMAD7):c.103G>A (p.Gly35Ser)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","2274631|NM_005904.4(SMAD7):c.78G>C (p.Glu26Asp)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","2324096|NM_005904.4(SMAD7):c.1033G>A (p.Ala345Thr)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","2341769|NM_005904.4(SMAD7):c.88G>A (p.Gly30Arg)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","2399088|NM_005904.4(SMAD7):c.388G>A (p.Gly130Ser)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","2482930|NM_005904.4(SMAD7):c.55C>G (p.Pro19Ala)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","2496374|NM_005904.4(SMAD7):c.625C>T (p.Pro209Ser)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","2508694|NM_005904.4(SMAD7):c.1114G>A (p.Glu372Lys)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","2510111|NM_005904.4(SMAD7):c.34C>A (p.Arg12Ser)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","2526882|NM_005904.4(SMAD7):c.1166C>T (p.Pro389Leu)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","2569524|NM_005904.4(SMAD7):c.133A>G (p.Ser45Gly)|single nucleotide variant|Likely benign|SMAD7|criteria provided, single submitter|18","2569525|NM_005904.4(SMAD7):c.163C>G (p.Pro55Ala)|single nucleotide variant|Likely benign|SMAD7|criteria provided, single submitter|18","2569529|NM_005904.4(SMAD7):c.85G>T (p.Gly29Trp)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3033527|NM_005904.4(SMAD7):c.186G>A (p.Leu62=)|single nucleotide variant|Likely benign|SMAD7|no assertion criteria provided|18","3047025|NM_005904.4(SMAD7):c.87G>C (p.Gly29=)|single nucleotide variant|Likely benign|SMAD7|no assertion criteria provided|18","3057645|NM_005904.4(SMAD7):c.*5G>A|single nucleotide variant|Likely benign|SMAD7|no assertion criteria provided|18","3060367|NM_005904.4(SMAD7):c.667+8G>A|single nucleotide variant|Likely benign|SMAD7|no assertion criteria provided|18","3166251|NM_005904.4(SMAD7):c.113G>A (p.Arg38Gln)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3166252|NM_005904.4(SMAD7):c.124G>A (p.Ala42Thr)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3320656|NM_005904.4(SMAD7):c.143A>T (p.His48Leu)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3320658|NM_005904.4(SMAD7):c.183C>G (p.Cys61Trp)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3350989|NM_005904.4(SMAD7):c.614-8A>C|single nucleotide variant|Likely benign|SMAD7|no assertion criteria provided|18","3352510|NM_005904.4(SMAD7):c.909G>A (p.Ser303=)|single nucleotide variant|Likely benign|SMAD7|no assertion criteria provided|18","3445916|NM_005904.4(SMAD7):c.79G>A (p.Gly27Ser)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3445917|NM_005904.4(SMAD7):c.863A>T (p.Tyr288Phe)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3445918|NM_005904.4(SMAD7):c.772C>T (p.Arg258Trp)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3445920|NM_005904.4(SMAD7):c.945C>A (p.Ser315Arg)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3445921|NM_005904.4(SMAD7):c.1174G>A (p.Gly392Ser)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3798839|NM_005904.4(SMAD7):c.664A>G (p.Thr222Ala)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3958374|NM_005904.4(SMAD7):c.661C>A (p.Pro221Thr)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","3958375|NM_005904.4(SMAD7):c.1078G>A (p.Val360Met)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","4170087|NM_005904.4(SMAD7):c.1183G>A (p.Val395Met)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","4170088|NM_005904.4(SMAD7):c.1148A>G (p.His383Arg)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","4170089|NM_005904.4(SMAD7):c.98G>A (p.Gly33Glu)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","4170091|NM_005904.4(SMAD7):c.767G>A (p.Gly256Glu)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","4170093|NM_005904.4(SMAD7):c.130G>A (p.Asp44Asn)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","4170095|NM_005904.4(SMAD7):c.1247C>G (p.Pro416Arg)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","4170096|NM_005904.4(SMAD7):c.839A>G (p.Gln280Arg)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","4170097|NM_005904.4(SMAD7):c.72G>C (p.Glu24Asp)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","4431741|NM_005904.4(SMAD7):c.-30A>G|single nucleotide variant||SMAD7||18","4586870|NM_005904.4(SMAD7):c.863A>G (p.Tyr288Cys)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","4586871|NM_005904.4(SMAD7):c.974G>A (p.Arg325Gln)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","4586872|NM_005904.4(SMAD7):c.971C>T (p.Thr324Met)|single nucleotide variant|Uncertain significance|SMAD7|criteria provided, single submitter|18","6725|NM_005904.4(SMAD7):c.743-5183=|single nucleotide variant|risk factor|SMAD7|no assertion criteria provided|18","713314|NM_005904.4(SMAD7):c.624C>A (p.Pro208=)|single nucleotide variant|Benign|SMAD7|criteria provided, multiple submitters, no conflicts|18","714872|NM_005904.4(SMAD7):c.1086C>T (p.Pro362=)|single nucleotide variant|Benign|SMAD7|criteria provided, single submitter|18","718639|NM_005904.4(SMAD7):c.115G>A (p.Gly39Arg)|single nucleotide variant|Benign/Likely benign|SMAD7|criteria provided, multiple submitters, no conflicts|18","743759|NM_005904.4(SMAD7):c.184C>T (p.Leu62=)|single nucleotide variant|Likely benign|SMAD7|criteria provided, single submitter|18","786841|NM_005904.4(SMAD7):c.624C>T (p.Pro208=)|single nucleotide variant|Benign|SMAD7|criteria provided, single submitter|18"]},{"input":"GREM1","source":"HGNC:2001|gremlin 1, DAN family BMP antagonist","targets":["1004166|NC_000015.9:g.(?_32964889)_(33010412_?)dup|Duplication|Uncertain significance|GREM1|criteria provided, single submitter|15","1024935|NC_000015.9:g.(?_32964889)_(33010736_?)dup|Duplication|Uncertain significance|GREM1|criteria provided, single submitter|15","1040886|NC_000015.9:g.(?_32964889)_(32988830_?)dup|Duplication|Uncertain significance|GREM1|criteria provided, single submitter|15","1040887|NC_000015.9:g.(?_32964889)_(33012502_?)dup|Duplication|Uncertain significance|GREM1|criteria provided, single submitter|15","1049589|NM_013372.7(GREM1):c.449C>G (p.Thr150Ser)|single nucleotide variant|Uncertain significance|GREM1|criteria provided, single submitter|15","1062672|NC_000015.9:g.(?_32964740)_(33002449_?)dup|Duplication|Uncertain significance|GREM1|criteria provided, single submitter|15","1062673|NC_000015.9:g.(?_32964889)_(33004937_?)dup|Duplication|Uncertain significance|GREM1|criteria provided, single submitter|15","1178065|NM_013372.7(GREM1):c.-1-5645del|Deletion|Benign|GREM1|criteria provided, single submitter|15","1179364|NM_013372.7(GREM1):c.-1-3328T>C|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1179867|NM_013372.7(GREM1):c.-2+2718A>G|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1222045|NM_013372.7(GREM1):c.*224C>T|single nucleotide variant|Benign|GREM1|criteria provided, multiple submitters, no conflicts|15","1222065|NM_013372.7(GREM1):c.-2+3408G>C|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1223202|NM_013372.7(GREM1):c.-1-1963T>G|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1224289|NM_013372.7(GREM1):c.-1-4472G>A|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1225581|NM_013372.7(GREM1):c.-2+5479_-2+5480del|Deletion|Benign|GREM1|criteria provided, single submitter|15","1228102|NM_013372.7(GREM1):c.-1-2012T>C|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1229714|NM_013372.7(GREM1):c.-2+4408T>A|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1233198|NM_013372.7(GREM1):c.-1-2624C>T|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1233638|NM_013372.7(GREM1):c.-1-836_-1-835insAA|Insertion|Benign|GREM1|criteria provided, single submitter|15","1234007|NM_013372.7(GREM1):c.-1-309A>T|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1234838|NM_013372.7(GREM1):c.-1-6051del|Deletion|Benign|GREM1|criteria provided, single submitter|15","1238220|NM_013372.7(GREM1):c.-1-1501A>G|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1238271|NM_013372.7(GREM1):c.-2+1335G>C|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1238826|NM_013372.7(GREM1):c.-1-3482_-1-3480del|Deletion|Benign|GREM1|criteria provided, single submitter|15","1239140|NM_013372.7(GREM1):c.-1-1424C>T|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1240993|NM_013372.7(GREM1):c.-2+374G>A|single nucleotide variant|Benign|GREM1|criteria provided, multiple submitters, no conflicts|15","1241475|NM_013372.7(GREM1):c.-2+2140A>G|single nucleotide variant|Benign|GREM1|criteria provided, multiple submitters, no conflicts|15","1243347|NM_013372.7(GREM1):c.-2+5098G>C|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1246143|NM_013372.7(GREM1):c.-1-4867G>A|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1247530|NM_013372.7(GREM1):c.-1-2813C>T|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1247744|NM_013372.7(GREM1):c.-2+121T>C|single nucleotide variant|Benign|GREM1|criteria provided, multiple submitters, no conflicts|15","1248799|NM_013372.7(GREM1):c.-1-3967_-1-3964del|Deletion|Benign|GREM1|criteria provided, single submitter|15","1251562|NM_013372.7(GREM1):c.-2+4844G>A|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1252719|NM_013372.7(GREM1):c.-2+6116G>C|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1253065|NM_013372.7(GREM1):c.-2+765G>A|single nucleotide variant|Benign|GREM1|criteria provided, multiple submitters, no conflicts|15","1253385|NM_013372.7(GREM1):c.-2+2857T>A|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1253442|NM_013372.7(GREM1):c.-1-3990C>T|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1253919|NC_000015.10:g.32717891G>T|single nucleotide variant|Benign|GREM1|criteria provided, multiple submitters, no conflicts|15","1256722|NM_013372.7(GREM1):c.-2+4085A>G|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1257647|NM_013372.7(GREM1):c.-2+1279A>G|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1261870|NM_013372.7(GREM1):c.-2+2276G>A|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1263184|NM_013372.7(GREM1):c.-1-2169_-1-2165del|Deletion|Benign|GREM1|criteria provided, single submitter|15","1263209|NM_013372.7(GREM1):c.-2+5040A>G|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1268228|NM_013372.7(GREM1):c.-1-980C>G|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1270936|NM_013372.7(GREM1):c.-1-4827G>A|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1272384|NM_013372.7(GREM1):c.-1-683C>T|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1272447|NM_013372.7(GREM1):c.-2+5480del|Duplication|Benign|GREM1|criteria provided, single submitter|15","1274709|NC_000015.10:g.32717579C>T|single nucleotide variant|Benign|GREM1|criteria provided, multiple submitters, no conflicts|15","1277057|NM_013372.7(GREM1):c.-1-3347C>T|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1278032|NM_013372.7(GREM1):c.-1-5343A>G|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1278688|NM_013372.7(GREM1):c.-2+5792A>G|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1278747|NM_013372.7(GREM1):c.*239A>C|single nucleotide variant|Benign|GREM1|criteria provided, multiple submitters, no conflicts|15","1280087|NM_013372.7(GREM1):c.-1-3878G>A|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1281118|NM_013372.7(GREM1):c.-1-1303_-1-1300del|Microsatellite|Benign|GREM1|criteria provided, single submitter|15","1281851|NM_013372.7(GREM1):c.-2+1489G>T|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1282623|NM_013372.7(GREM1):c.*40C>A|single nucleotide variant|Benign|GREM1|criteria provided, multiple submitters, no conflicts|15","1286829|NM_013372.7(GREM1):c.-2+1383del|Deletion|Benign|GREM1|criteria provided, single submitter|15","1287444|NM_013372.7(GREM1):c.-1-3966_-1-3964del|Deletion|Benign|GREM1|criteria provided, single submitter|15","1287820|NM_013372.7(GREM1):c.-1-4804A>C|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1288270|NM_013372.7(GREM1):c.-2+3933C>G|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1288795|NM_013372.7(GREM1):c.-1-801G>A|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1291111|NM_013372.7(GREM1):c.-1-4004A>C|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1291117|NM_013372.7(GREM1):c.-1-3026_-1-3023del|Microsatellite|Benign|GREM1|criteria provided, single submitter|15","1292455|NM_013372.7(GREM1):c.-1-3965_-1-3964del|Duplication|Benign|GREM1|criteria provided, single submitter|15","1294086|NM_013372.7(GREM1):c.-2+1870T>C|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1294095|NM_013372.7(GREM1):c.-1-1531C>G|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1297801|NM_013372.7(GREM1):c.-2+50G>A|single nucleotide variant|Benign|GREM1|criteria provided, multiple submitters, no conflicts|15","1411758|NC_000015.9:g.(?_32964889)_(32994756_?)dup|Duplication|Uncertain significance|GREM1|criteria provided, single submitter|15","1411760|NC_000015.9:g.(?_32964889)_(33009478_?)dup|Duplication|Uncertain significance|GREM1|criteria provided, single submitter|15","1411763|NC_000015.9:g.(?_32983891)_(32988830_?)dup|Duplication|Uncertain significance|GREM1|criteria provided, single submitter|15","1411764|NC_000015.9:g.(?_32964839)_(33004986_?)dup|Duplication|Uncertain significance|GREM1|criteria provided, single submitter|15","1691515|NM_013372.7(GREM1):c.307A>G (p.Ile103Val)|single nucleotide variant|Uncertain significance|GREM1|criteria provided, multiple submitters, no conflicts|15","1697735|NM_013372.7(GREM1):c.-111G>A|single nucleotide variant|Benign|GREM1|criteria provided, single submitter|15","1697736|NM_013372.7(GREM1):c.-76C>G|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1697737|NM_013372.7(GREM1):c.-49G>A|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1697738|NM_013372.7(GREM1):c.-23C>G|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1697739|NM_013372.7(GREM1):c.-2+9G>C|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1697740|NM_013372.7(GREM1):c.-1-23C>G|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1697741|NM_013372.7(GREM1):c.105G>T (p.Pro35=)|single nucleotide variant|Likely benign|GREM1|criteria provided, multiple submitters, no conflicts|15","1701911|NM_013372.7(GREM1):c.190C>T (p.Arg64Trp)|single nucleotide variant|Uncertain significance|GREM1|criteria provided, multiple submitters, no conflicts|15","1710971|NM_013372.7(GREM1):c.77A>G (p.Lys26Arg)|single nucleotide variant|Uncertain significance|GREM1|criteria provided, multiple submitters, no conflicts|15","1727726|NM_013372.7(GREM1):c.310C>A (p.His104Asn)|single nucleotide variant|Uncertain significance|GREM1|criteria provided, single submitter|15","1728622|NM_013372.7(GREM1):c.318A>G (p.Glu106=)|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1728787|NM_013372.7(GREM1):c.31C>T (p.Leu11=)|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1729186|NM_013372.7(GREM1):c.322T>A (p.Cys108Ser)|single nucleotide variant|Uncertain significance|GREM1|criteria provided, single submitter|15","1729282|NM_013372.7(GREM1):c.323G>A (p.Cys108Tyr)|single nucleotide variant|Uncertain significance|GREM1|criteria provided, single submitter|15","1729396|NM_013372.7(GREM1):c.324C>T (p.Cys108=)|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1729600|NM_013372.7(GREM1):c.326A>G (p.Asn109Ser)|single nucleotide variant|Uncertain significance|GREM1|criteria provided, single submitter|15","1730076|NM_013372.7(GREM1):c.330T>C (p.Ser110=)|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1730587|NM_013372.7(GREM1):c.335C>G (p.Thr112Ser)|single nucleotide variant|Uncertain significance|GREM1|criteria provided, single submitter|15","1731035|NM_013372.7(GREM1):c.33G>A (p.Leu11=)|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1731538|NM_013372.7(GREM1):c.344A>T (p.Asn115Ile)|single nucleotide variant|Uncertain significance|GREM1|criteria provided, single submitter|15","1731616|NM_013372.7(GREM1):c.345C>T (p.Asn115=)|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1732587|NM_013372.7(GREM1):c.354T>C (p.Cys118=)|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1732877|NM_013372.7(GREM1):c.357C>T (p.Tyr119=)|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1733497|NM_013372.7(GREM1):c.363G>T (p.Gln121His)|single nucleotide variant|Uncertain significance|GREM1|criteria provided, single submitter|15","1733743|NM_013372.7(GREM1):c.114G>A (p.Lys38=)|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1734038|NM_013372.7(GREM1):c.369C>T (p.Asn123=)|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1734386|NM_013372.7(GREM1):c.372T>A (p.Ser124=)|single nucleotide variant|Likely benign|GREM1|criteria provided, single submitter|15","1734388|NM_013372.7(GREM1):c.372T>C (p.Ser124=)|single nucleotide variant|Likely benign|GREM1|criteria provided, multiple submitters, no conflicts|15"]},{"input":"TCF7L2","source":"HGNC:11641|transcription factor 7 like 2","targets":["1049660|NM_001367943.1(TCF7L2):c.84G>C (p.Glu28Asp)|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","1174189|NM_001367943.1(TCF7L2):c.450+117_450+118insATGGTGGTG|Insertion|Benign|TCF7L2|criteria provided, single submitter|10","1177900|NM_001367943.1(TCF7L2):c.450+90_450+92del|Deletion|Benign|TCF7L2|criteria provided, single submitter|10","1181499|NM_001367943.1(TCF7L2):c.1001+197T>C|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1183640|NM_001367943.1(TCF7L2):c.788+76TG[13]|Microsatellite|Benign|TCF7L2|criteria provided, single submitter|10","1220588|NM_001367943.1(TCF7L2):c.381+28C>A|single nucleotide variant|Benign|TCF7L2|criteria provided, multiple submitters, no conflicts|10","1222569|NM_001367943.1(TCF7L2):c.788+75_788+98del|Deletion|Benign|TCF7L2|criteria provided, single submitter|10","1222749|NM_001367943.1(TCF7L2):c.-497G>T|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1226673|NM_001367943.1(TCF7L2):c.788+76TG[14]|Microsatellite|Benign|TCF7L2|criteria provided, single submitter|10","1234388|NM_001367943.1(TCF7L2):c.788+252G>A|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1235472|NM_001367943.1(TCF7L2):c.685+126del|Deletion|Benign|TCF7L2|criteria provided, single submitter|10","1236704|NM_001367943.1(TCF7L2):c.1269+335C>T|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1239575|NM_001367943.1(TCF7L2):c.381+294dup|Duplication|Benign|TCF7L2|criteria provided, single submitter|10","1239735|NM_001367943.1(TCF7L2):c.1498C>A (p.Pro500Thr)|single nucleotide variant|Benign|TCF7L2|criteria provided, multiple submitters, no conflicts|10","1240503|NM_001367943.1(TCF7L2):c.450+137TGG[4]|Microsatellite|Benign|TCF7L2|criteria provided, single submitter|10","1242466|NM_001367943.1(TCF7L2):c.451-22060A>G|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1242491|NM_001367943.1(TCF7L2):c.451-22114C>T|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1243389|NM_001367943.1(TCF7L2):c.788+76TG[15]|Microsatellite|Benign|TCF7L2|criteria provided, single submitter|10","1244289|NM_001367943.1(TCF7L2):c.450+188del|Deletion|Benign|TCF7L2|criteria provided, single submitter|10","1245737|NM_001367943.1(TCF7L2):c.451-22127G>A|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1246257|NM_001367943.1(TCF7L2):c.685+126G>T|single nucleotide variant|Benign|TCF7L2|criteria provided, multiple submitters, no conflicts|10","1247508|NM_001367943.1(TCF7L2):c.553-316T>C|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1248694|NM_001367943.1(TCF7L2):c.381+311C>T|single nucleotide variant|Benign|TCF7L2|criteria provided, multiple submitters, no conflicts|10","1248717|NM_001367943.1(TCF7L2):c.1442+338A>G|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1256720|NM_001367943.1(TCF7L2):c.788+76TG[16]|Microsatellite|Benign|TCF7L2|criteria provided, single submitter|10","1260356|NC_000010.11:g.112950166C>T|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1261071|NM_001367943.1(TCF7L2):c.450+90A>G|single nucleotide variant|Benign|TCF7L2|criteria provided, multiple submitters, no conflicts|10","1263547|NM_001367943.1(TCF7L2):c.450+154A>G|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1263798|NM_001367943.1(TCF7L2):c.*27T>C|single nucleotide variant|Benign|TCF7L2|criteria provided, multiple submitters, no conflicts|10","1267768|NM_001367943.1(TCF7L2):c.552+49468C>T|single nucleotide variant|Benign|TCF7L2|criteria provided, multiple submitters, no conflicts|10","1267777|NM_001367943.1(TCF7L2):c.788+76TG[19]|Microsatellite|Benign|TCF7L2|criteria provided, single submitter|10","1268412|NM_001367943.1(TCF7L2):c.1442+1910G>T|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1269326|NM_001367943.1(TCF7L2):c.451-22388C>T|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1274713|NM_001367943.1(TCF7L2):c.-294dup|Duplication|Benign|TCF7L2|criteria provided, single submitter|10","1274945|NM_001367943.1(TCF7L2):c.451-14360G>A|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1275025|NM_001367943.1(TCF7L2):c.876-79dup|Duplication|Benign|TCF7L2|criteria provided, single submitter|10","1275362|NM_001367943.1(TCF7L2):c.451-25858C>T|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1276639|NM_001367943.1(TCF7L2):c.-345del|Deletion|Benign|TCF7L2|criteria provided, single submitter|10","1277159|NM_001367943.1(TCF7L2):c.1442+1770C>T|single nucleotide variant|Benign|TCF7L2|criteria provided, multiple submitters, no conflicts|10","1278027|NM_001367943.1(TCF7L2):c.381+309dup|Duplication|Benign|TCF7L2|criteria provided, single submitter|10","1280353|NM_001367943.1(TCF7L2):c.450+115A>G|single nucleotide variant|Benign|TCF7L2|criteria provided, multiple submitters, no conflicts|10","1282021|NM_001367943.1(TCF7L2):c.190-89del|Deletion|Benign|TCF7L2|criteria provided, single submitter|10","1289502|NM_001367943.1(TCF7L2):c.1370-197A>G|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1291995|NM_001367943.1(TCF7L2):c.876-307C>T|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","1293151|NM_001367943.1(TCF7L2):c.552+49514C>T|single nucleotide variant|Benign|TCF7L2|criteria provided, multiple submitters, no conflicts|10","1295582|NM_001367943.1(TCF7L2):c.788+76TG[17]|Microsatellite|Benign|TCF7L2|criteria provided, single submitter|10","1308651|NM_001367943.1(TCF7L2):c.1197del (p.Tyr400fs)|Deletion|Likely pathogenic|TCF7L2|criteria provided, single submitter|10","157187|NM_001367943.1(TCF7L2):c.552+46764_552+47838del|Deletion|not provided|TCF7L2|no classification provided|10","1696586|NM_001367943.1(TCF7L2):c.1162-7C>A|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","1700132|NM_001367943.1(TCF7L2):c.723del (p.Tyr242fs)|Deletion|Likely pathogenic|TCF7L2|criteria provided, single submitter|10","1984248|NM_001367943.1(TCF7L2):c.1766T>C (p.Ile589Thr)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2221608|NM_001367943.1(TCF7L2):c.451-6C>T|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","2223650|NM_001367943.1(TCF7L2):c.1714G>A (p.Ala572Thr)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2226191|NM_001367943.1(TCF7L2):c.1180G>T (p.Glu394Ter)|single nucleotide variant|Pathogenic|TCF7L2|criteria provided, single submitter|10","2252661|NM_001367943.1(TCF7L2):c.1634A>G (p.His545Arg)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","225819|NM_001367943.1(TCF7L2):c.451-25857A>G|single nucleotide variant|Benign|TCF7L2|criteria provided, single submitter|10","2261352|NM_001367943.1(TCF7L2):c.1729C>G (p.Pro577Ala)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2270921|NM_001367943.1(TCF7L2):c.1778C>G (p.Ser593Trp)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2273023|NM_001367943.1(TCF7L2):c.1754C>T (p.Pro585Leu)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2277423|NM_001367943.1(TCF7L2):c.552+49329C>T|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2277941|NM_001367943.1(TCF7L2):c.552+49416T>A|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2297867|NM_001367943.1(TCF7L2):c.755_762del (p.Gln252fs)|Deletion|Pathogenic|TCF7L2|criteria provided, single submitter|10","2304834|NM_001367943.1(TCF7L2):c.409T>C (p.Tyr137His)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2326795|NM_001367943.1(TCF7L2):c.1545C>G (p.Asn515Lys)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2326796|NM_001367943.1(TCF7L2):c.1556C>T (p.Ser519Phe)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2333606|NM_001367943.1(TCF7L2):c.1700T>G (p.Leu567Arg)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2382191|NM_001367943.1(TCF7L2):c.1534C>A (p.Pro512Thr)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2384659|NM_001367943.1(TCF7L2):c.527G>A (p.Arg176Gln)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2491249|NM_001367943.1(TCF7L2):c.777G>T (p.Trp259Cys)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2499565|NM_001367943.1(TCF7L2):c.1144C>T (p.Gln382Ter)|single nucleotide variant|Pathogenic|TCF7L2|criteria provided, multiple submitters, no conflicts|10","2501975|NM_001367943.1(TCF7L2):c.1774C>T (p.Pro592Ser)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2501976|NM_001367943.1(TCF7L2):c.1222C>T (p.Gln408Ter)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2501984|NM_001367943.1(TCF7L2):c.1141A>C (p.Asn381His)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2501986|NM_001367943.1(TCF7L2):c.1268A>G (p.Tyr423Cys)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2501987|NM_001367943.1(TCF7L2):c.1060C>T (p.Leu354Phe)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2503276|NM_001367943.1(TCF7L2):c.553-1G>A|single nucleotide variant|Pathogenic|TCF7L2|criteria provided, single submitter|10","2503277|NM_001367943.1(TCF7L2):c.1219C>T (p.Arg407Ter)|single nucleotide variant|Pathogenic|TCF7L2|criteria provided, single submitter|10","2505229|NM_001367943.1(TCF7L2):c.1592C>A (p.Thr531Asn)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2513228|NM_001367943.1(TCF7L2):c.1639T>C (p.Ser547Pro)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2533306|NM_001367943.1(TCF7L2):c.916A>T (p.Thr306Ser)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2534670|NM_001367943.1(TCF7L2):c.1543A>C (p.Asn515His)|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","2536193|NM_001367943.1(TCF7L2):c.565C>T (p.Pro189Ser)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2549907|NM_001367943.1(TCF7L2):c.1246G>A (p.Gly416Ser)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2569894|NM_001367943.1(TCF7L2):c.1565G>A (p.Arg522Gln)|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","2588339|NM_001367943.1(TCF7L2):c.547A>G (p.Ile183Val)|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","2604598|NM_001367943.1(TCF7L2):c.150T>A (p.Asn50Lys)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2609777|NM_001367943.1(TCF7L2):c.1203G>C (p.Glu401Asp)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2615154|NM_001367943.1(TCF7L2):c.1813G>C (p.Gly605Arg)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2640837|NM_001367943.1(TCF7L2):c.82G>C (p.Glu28Gln)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2640838|NM_001367943.1(TCF7L2):c.200G>A (p.Arg67Gln)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2640839|NM_001367943.1(TCF7L2):c.816G>A (p.Thr272=)|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","2640840|NM_001367943.1(TCF7L2):c.855C>T (p.Thr285=)|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","2640841|NM_001367943.1(TCF7L2):c.1002-6C>T|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","2640842|NM_001367943.1(TCF7L2):c.1152T>G (p.Leu384=)|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","2640843|NM_001367943.1(TCF7L2):c.1542G>C (p.Pro514=)|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","2640844|NM_001367943.1(TCF7L2):c.1653G>A (p.Pro551=)|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","2640845|NM_001367943.1(TCF7L2):c.1776G>A (p.Pro592=)|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10","2674594|NM_001367943.1(TCF7L2):c.288G>T (p.Lys96Asn)|single nucleotide variant|Uncertain significance|TCF7L2|criteria provided, single submitter|10","2685389|GRCh37/hg19 10q25.2(chr10:114608930-114787637)x1|copy number loss|Uncertain significance|TCF7L2|criteria provided, single submitter|10","3025050|NM_001367943.1(TCF7L2):c.1542G>A (p.Pro514=)|single nucleotide variant|Likely benign|TCF7L2|criteria provided, single submitter|10"]},{"input":"CDH1","source":"HGNC:24824|fizzy and cell division cycle 20 related 1","targets":["1330275|NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|FZR1|criteria provided, conflicting classifications|19","1802183|NM_016263.4(FZR1):c.560A>G (p.Asp187Gly)|single nucleotide variant|Pathogenic|FZR1|no assertion criteria provided|19","1802184|NM_016263.4(FZR1):c.559G>A (p.Asp187Asn)|single nucleotide variant|Pathogenic|FZR1|no assertion criteria provided|19","1802185|NM_016263.4(FZR1):c.999C>G (p.Asn333Lys)|single nucleotide variant|Pathogenic|FZR1|no assertion criteria provided|19","1802186|NM_016263.4(FZR1):c.999C>A (p.Asn333Lys)|single nucleotide variant|Pathogenic|FZR1|criteria provided, single submitter|19","2220228|NM_016263.4(FZR1):c.206A>C (p.Lys69Thr)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2225212|NM_016263.4(FZR1):c.923G>A (p.Arg308Gln)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2238039|NM_016263.4(FZR1):c.488C>G (p.Ser163Cys)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2273613|NM_016263.4(FZR1):c.1445C>G (p.Ser482Cys)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2276508|NM_016263.4(FZR1):c.67C>T (p.Arg23Cys)|single nucleotide variant|Likely benign|FZR1|criteria provided, single submitter|19","2296412|NM_016263.4(FZR1):c.238G>A (p.Ala80Thr)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2315940|NM_016263.4(FZR1):c.1081A>G (p.Ile361Val)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2331870|NM_016263.4(FZR1):c.1132G>A (p.Ala378Thr)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2339549|NM_016263.4(FZR1):c.476A>T (p.Lys159Met)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2353164|NM_016263.4(FZR1):c.344G>A (p.Arg115His)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2353389|NM_016263.4(FZR1):c.874A>G (p.Met292Val)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2474538|NM_016263.4(FZR1):c.938G>A (p.Arg313Gln)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2568805|NM_016263.4(FZR1):c.69C>T (p.Arg23=)|single nucleotide variant|Likely benign|FZR1|criteria provided, single submitter|19","2596299|NM_016263.4(FZR1):c.386C>T (p.Thr129Met)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2623424|NM_016263.4(FZR1):c.338A>T (p.Glu113Val)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","2648988|NM_016263.4(FZR1):c.429C>T (p.Asn143=)|single nucleotide variant|Benign|FZR1|criteria provided, single submitter|19","2770322|NM_016263.4(FZR1):c.895C>T (p.Arg299Cys)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3025329|NM_016263.4(FZR1):c.702C>T (p.Ser234=)|single nucleotide variant|Benign|FZR1|criteria provided, single submitter|19","3027057|NM_016263.4(FZR1):c.255C>T (p.Gly85=)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3063955|NM_016263.4(FZR1):c.826G>A (p.Ala276Thr)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3097712|NM_016263.4(FZR1):c.10G>T (p.Asp4Tyr)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3097713|NM_016263.4(FZR1):c.160G>A (p.Gly54Arg)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3097715|NM_016263.4(FZR1):c.797T>C (p.Met266Thr)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3097716|NM_016263.4(FZR1):c.946G>C (p.Val316Leu)|single nucleotide variant|Likely pathogenic|FZR1|criteria provided, single submitter|19","3280311|NM_016263.4(FZR1):c.1084G>A (p.Ala362Thr)|single nucleotide variant|Likely benign|FZR1|criteria provided, single submitter|19","3280313|NM_016263.4(FZR1):c.1433C>T (p.Ser478Leu)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3344867|NM_016263.4(FZR1):c.915G>A (p.Ser305=)|single nucleotide variant|Benign|FZR1|no assertion criteria provided|19","3344872|NM_016263.4(FZR1):c.1440+14G>T|single nucleotide variant|Uncertain significance|FZR1|no assertion criteria provided|19","3348105|NM_016263.4(FZR1):c.347G>T (p.Arg116Met)|single nucleotide variant|Uncertain significance|FZR1|no assertion criteria provided|19","3349234|NM_016263.4(FZR1):c.659C>T (p.Thr220Met)|single nucleotide variant|Uncertain significance|FZR1|no assertion criteria provided|19","3518009|NM_016263.4(FZR1):c.224G>A (p.Arg75Gln)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3518010|NM_016263.4(FZR1):c.1421G>C (p.Ser474Thr)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3781188|NM_016263.4(FZR1):c.1264C>T (p.Gln422Ter)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3852303|NM_016263.4(FZR1):c.679G>A (p.Val227Met)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3852304|NM_016263.4(FZR1):c.59C>T (p.Thr20Met)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3852306|NM_016263.4(FZR1):c.1309G>A (p.Ala437Thr)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","3905518|NM_016263.4(FZR1):c.660G>A (p.Thr220=)|single nucleotide variant|Likely benign|FZR1|criteria provided, single submitter|19","394236|GRCh37/hg19 19p13.3(chr19:3536419-3551065)x3|copy number gain|Likely benign|FZR1|no assertion criteria provided|19","4027536|NM_016263.4(FZR1):c.820G>A (p.Val274Ile)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","4027537|NM_016263.4(FZR1):c.307G>A (p.Gly103Ser)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","4027538|NM_016263.4(FZR1):c.1255G>A (p.Gly419Ser)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","4260937|NM_016263.4(FZR1):c.86G>A (p.Arg29Gln)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","4260938|NM_016263.4(FZR1):c.1028C>G (p.Ser343Trp)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","4260939|NM_016263.4(FZR1):c.206A>G (p.Lys69Arg)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","4260940|NM_016263.4(FZR1):c.1166C>T (p.Thr389Ile)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","4278811|NM_016263.4(FZR1):c.865C>T (p.Arg289Cys)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","4278849|NM_016263.4(FZR1):c.720G>A (p.Arg240=)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","4285839|NM_016263.4(FZR1):c.70-16_70-3del|Deletion||FZR1||19","4438259|NM_016263.4(FZR1):c.195+3G>C|single nucleotide variant||FZR1||19","4438262|NM_016263.4(FZR1):c.260-3C>T|single nucleotide variant||FZR1||19","4438264|NM_016263.4(FZR1):c.456C>A (p.Pro152=)|single nucleotide variant||FZR1||19","4438265|NM_016263.4(FZR1):c.470+108C>T|single nucleotide variant||FZR1||19","4438266|NM_016263.4(FZR1):c.655-2A>T|single nucleotide variant||FZR1||19","4438267|NM_016263.4(FZR1):c.718C>T (p.Arg240Trp)|single nucleotide variant||FZR1||19","4438268|NM_016263.4(FZR1):c.720+2T>C|single nucleotide variant||FZR1||19","4438269|NM_016263.4(FZR1):c.720+2T>G|single nucleotide variant||FZR1||19","4438271|NM_016263.4(FZR1):c.823G>A (p.Gly275Arg)|single nucleotide variant||FZR1||19","4438272|NM_016263.4(FZR1):c.823+2T>G|single nucleotide variant||FZR1||19","4438273|NM_016263.4(FZR1):c.1243-14C>A|single nucleotide variant||FZR1||19","4438274|NM_016263.4(FZR1):c.1315C>G (p.Leu439Val)|single nucleotide variant||FZR1||19","4438275|NM_016263.4(FZR1):c.1441-35G>A|single nucleotide variant||FZR1||19","4438276|NM_016263.4(FZR1):c.1441-33C>G|single nucleotide variant||FZR1||19","4438277|NM_016263.4(FZR1):c.1441-2A>G|single nucleotide variant||FZR1||19","4438278|NM_016263.4(FZR1):c.*98G>A|single nucleotide variant||FZR1||19","4438279|NM_016263.4(FZR1):c.*98G>T|single nucleotide variant||FZR1||19","4438280|NM_016263.4(FZR1):c.*1388G>A|single nucleotide variant||FZR1||19","4531716|NM_016263.4(FZR1):c.818G>A (p.Arg273His)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19","4533764|NM_016263.4(FZR1):c.771C>T (p.Asp257=)|single nucleotide variant|Likely benign|FZR1|criteria provided, single submitter|19","4538007|NM_016263.4(FZR1):c.1337dup (p.Leu447fs)|Duplication|Uncertain significance|FZR1|criteria provided, single submitter|19","4620479|NM_016263.4(FZR1):c.1412A>G (p.Asn471Ser)|single nucleotide variant|Uncertain significance|FZR1|criteria provided, single submitter|19"]},{"input":"CDH1","source":"HGNC:1748|cadherin 1","targets":["1000887|NM_004360.5(CDH1):c.835_836delinsGA (p.Thr279Asp)|Indel|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1001043|NM_004360.5(CDH1):c.2510G>A (p.Gly837Glu)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1001104|NM_004360.5(CDH1):c.1207G>T (p.Ala403Ser)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1001566|NM_004360.5(CDH1):c.370C>A (p.Arg124Ser)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1001574|NM_004360.5(CDH1):c.1817A>G (p.Asn606Ser)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1001939|NM_004360.5(CDH1):c.1598T>C (p.Leu533Pro)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1002501|NM_004360.5(CDH1):c.1124T>A (p.Phe375Tyr)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1002846|NM_004360.5(CDH1):c.211C>T (p.Leu71Phe)|single nucleotide variant|Conflicting classifications of pathogenicity|CDH1|criteria provided, conflicting classifications|16","1003746|NM_004360.5(CDH1):c.893C>A (p.Ala298Asp)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1004709|NM_004360.5(CDH1):c.2593T>C (p.Trp865Arg)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1005697|NM_004360.5(CDH1):c.602C>T (p.Pro201Leu)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1005809|NM_004360.5(CDH1):c.445C>G (p.Leu149Val)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1006371|NM_004360.5(CDH1):c.2241C>A (p.Asp747Glu)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1006475|NM_004360.5(CDH1):c.1162G>C (p.Glu388Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|CDH1|criteria provided, conflicting classifications|16","1008164|NM_004360.5(CDH1):c.1434G>A (p.Leu478=)|single nucleotide variant|Benign/Likely benign|CDH1|criteria provided, multiple submitters, no conflicts|16","1008183|NM_004360.5(CDH1):c.521A>T (p.Asn174Ile)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1008252|NM_004360.5(CDH1):c.1916C>T (p.Thr639Ile)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1008404|NM_004360.5(CDH1):c.2521G>C (p.Glu841Gln)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1008491|NM_004360.5(CDH1):c.2476C>T (p.Pro826Ser)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1009329|NM_004360.5(CDH1):c.124C>T (p.Pro42Ser)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1010952|NM_004360.5(CDH1):c.1382C>A (p.Pro461His)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1011072|NC_000016.9:g.(?_68771319)_(68867402_?)dup|Duplication|Uncertain significance|CDH1|criteria provided, single submitter|16","1011073|NC_000016.9:g.(?_68835559)_(68867794_?)dup|Duplication|Uncertain significance|CDH1|criteria provided, single submitter|16","1011917|NM_004360.5(CDH1):c.1658T>G (p.Phe553Cys)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1012012|NM_004360.5(CDH1):c.1217C>G (p.Thr406Ser)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1012125|NM_004360.5(CDH1):c.2357A>G (p.Asp786Gly)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1012194|NM_004360.5(CDH1):c.684C>G (p.Tyr228Ter)|single nucleotide variant|Pathogenic/Likely pathogenic|CDH1|criteria provided, multiple submitters, no conflicts|16","1014047|NM_004360.5(CDH1):c.548A>G (p.Asp183Gly)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1018413|NM_004360.5(CDH1):c.469G>A (p.Val157Ile)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1019476|NM_004360.5(CDH1):c.1643T>G (p.Leu548Arg)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1019665|NM_004360.5(CDH1):c.2540C>T (p.Ser847Phe)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1020040|NM_004360.5(CDH1):c.1543A>G (p.Thr515Ala)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1021161|NM_004360.5(CDH1):c.2330A>T (p.Asp777Val)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1021608|NM_004360.5(CDH1):c.2321G>A (p.Arg774Lys)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1022254|NM_004360.5(CDH1):c.245T>G (p.Val82Gly)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1022338|NM_004360.5(CDH1):c.1781T>C (p.Ile594Thr)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1022387|NM_004360.5(CDH1):c.905A>G (p.Tyr302Cys)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1022488|NM_004360.5(CDH1):c.1076C>T (p.Ala359Val)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1022673|NM_004360.5(CDH1):c.32T>C (p.Leu11Pro)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1023240|NM_004360.5(CDH1):c.2546A>G (p.Asn849Ser)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1023472|NM_004360.5(CDH1):c.155T>C (p.Leu52Pro)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1023504|NM_004360.5(CDH1):c.941A>T (p.Lys314Ile)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1024018|NM_004360.5(CDH1):c.2036C>A (p.Thr679Asn)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1024369|NM_004360.5(CDH1):c.2312A>G (p.Gln771Arg)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1025529|NM_004360.5(CDH1):c.1670A>G (p.Lys557Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|CDH1|criteria provided, conflicting classifications|16","1025785|NM_004360.5(CDH1):c.1871C>T (p.Ser624Phe)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1026369|NM_004360.5(CDH1):c.520A>G (p.Asn174Asp)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1026800|NM_004360.5(CDH1):c.1866T>G (p.Asn622Lys)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1034578|NM_004360.5(CDH1):c.2447A>T (p.Lys816Ile)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1035707|NM_004360.5(CDH1):c.1969G>T (p.Ala657Ser)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1035795|NM_004360.5(CDH1):c.1366G>C (p.Val456Leu)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1035849|NM_004360.5(CDH1):c.2624T>C (p.Met875Thr)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1036333|NM_004360.5(CDH1):c.2204C>G (p.Ala735Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|CDH1|criteria provided, conflicting classifications|16","1037315|NM_004360.5(CDH1):c.2268T>A (p.Asp756Glu)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1037386|NM_004360.5(CDH1):c.1593C>A (p.Asn531Lys)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1038385|NM_004360.5(CDH1):c.1006G>C (p.Glu336Gln)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1038605|NM_004360.5(CDH1):c.1093G>C (p.Val365Leu)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1038711|NM_004360.5(CDH1):c.1843A>T (p.Ile615Phe)|single nucleotide variant|Conflicting classifications of pathogenicity|CDH1|criteria provided, conflicting classifications|16","1038976|NM_004360.5(CDH1):c.1061G>C (p.Gly354Ala)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1038978|NM_004360.5(CDH1):c.755T>G (p.Val252Gly)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1040325|NM_004360.5(CDH1):c.1942G>A (p.Glu648Lys)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1040346|NM_004360.5(CDH1):c.48G>C (p.Gln16His)|single nucleotide variant|Conflicting classifications of pathogenicity|CDH1|criteria provided, conflicting classifications|16","1040431|NM_004360.5(CDH1):c.2164+4A>C|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1040439|NM_004360.5(CDH1):c.17G>T (p.Arg6Leu)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1040535|NM_004360.5(CDH1):c.1771A>G (p.Asn591Asp)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1040836|NM_004360.5(CDH1):c.1448C>T (p.Ala483Val)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1041474|NM_004360.5(CDH1):c.2278G>A (p.Gly760Ser)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1041713|NM_004360.5(CDH1):c.944A>C (p.Asn315Thr)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1041788|NM_004360.5(CDH1):c.1108G>A (p.Asp370Asn)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1042353|NM_004360.5(CDH1):c.247A>G (p.Ile83Val)|single nucleotide variant|Conflicting classifications of pathogenicity|CDH1|criteria provided, conflicting classifications|16","1043223|NM_004360.5(CDH1):c.1679C>A (p.Thr560Lys)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1043240|NM_004360.5(CDH1):c.2295+4G>A|single nucleotide variant|Conflicting classifications of pathogenicity|CDH1|criteria provided, conflicting classifications|16","1043609|NM_004360.5(CDH1):c.1739C>A (p.Thr580Lys)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1043623|NM_004360.5(CDH1):c.1137+6T>C|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1044133|NM_004360.5(CDH1):c.1106A>G (p.Asn369Ser)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1046513|NM_004360.5(CDH1):c.136C>G (p.Leu46Val)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1046930|NM_004360.5(CDH1):c.2384C>T (p.Pro795Leu)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1046988|NM_004360.5(CDH1):c.2465C>G (p.Pro822Arg)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1047513|NM_004360.5(CDH1):c.1008+6G>A|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1049026|NM_004360.5(CDH1):c.2029C>T (p.Gln677Ter)|single nucleotide variant|Likely pathogenic|CDH1|no assertion criteria provided|16","1049149|NM_004360.5(CDH1):c.2052C>A (p.Ser684Arg)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1049225|NM_004360.5(CDH1):c.2165-12C>G|single nucleotide variant|Likely benign|CDH1|criteria provided, multiple submitters, no conflicts|16","1049244|NM_004360.5(CDH1):c.2584T>G (p.Leu862Val)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1049652|NM_004360.5(CDH1):c.1437T>C (p.Asp479=)|single nucleotide variant|Benign|CDH1|criteria provided, single submitter|16","1049786|NM_004360.5(CDH1):c.2327T>C (p.Leu776Pro)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1049896|NM_004360.5(CDH1):c.387+13T>G|single nucleotide variant|Likely benign|CDH1|criteria provided, single submitter|16","1050193|NC_000016.10:g.68828174_68828304del|Deletion|Pathogenic|CDH1|no assertion criteria provided|16","1050280|NM_004360.5(CDH1):c.2440-2_*1del|Deletion|Pathogenic|CDH1|no assertion criteria provided|16","1050499|NM_004360.5(CDH1):c.876T>C (p.Asp292=)|single nucleotide variant|Likely benign|CDH1|criteria provided, multiple submitters, no conflicts|16","1050698|NM_004360.5(CDH1):c.900C>G (p.Ile300Met)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1050988|NM_004360.5(CDH1):c.860C>A (p.Thr287Lys)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1051188|NM_004360.5(CDH1):c.1525A>G (p.Thr509Ala)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1051319|NM_004360.5(CDH1):c.113C>G (p.Thr38Arg)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1051730|NM_004360.5(CDH1):c.707C>T (p.Ser236Leu)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1053753|NM_004360.5(CDH1):c.2185C>A (p.Leu729Met)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1054909|NM_004360.5(CDH1):c.1280C>A (p.Thr427Lys)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1054938|NM_004360.5(CDH1):c.598C>T (p.Pro200Ser)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, single submitter|16","1055286|NM_004360.5(CDH1):c.1553A>C (p.Glu518Ala)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1055722|NM_004360.5(CDH1):c.1158G>T (p.Glu386Asp)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16","1055799|NM_004360.5(CDH1):c.968C>T (p.Thr323Ile)|single nucleotide variant|Uncertain significance|CDH1|criteria provided, multiple submitters, no conflicts|16"]},{"input":"NOS1","source":"HGNC:7872|nitric oxide synthase 1","targets":["14012|NC_000012.12:g.117439680C>T|single nucleotide variant|Uncertain significance|NOS1|no assertion criteria provided|12","208544|NM_000620.5(NOS1):c.3606C>G (p.Tyr1202Ter)|single nucleotide variant|Uncertain significance|NOS1|no assertion criteria provided|12","2205665|NM_000620.5(NOS1):c.2532-2185A>G|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2224811|NM_000620.5(NOS1):c.2303C>T (p.Thr768Ile)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2226383|NM_000620.5(NOS1):c.1313C>A (p.Thr438Asn)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2230441|NM_000620.5(NOS1):c.4078G>T (p.Ala1360Ser)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2240778|NM_000620.5(NOS1):c.3259G>A (p.Glu1087Lys)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2243735|NM_000620.5(NOS1):c.2176G>A (p.Gly726Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2253379|NM_000620.5(NOS1):c.4018G>A (p.Val1340Met)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2255859|NM_000620.5(NOS1):c.3614G>A (p.Arg1205Gln)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2261214|NM_000620.5(NOS1):c.1172A>G (p.Lys391Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2261265|NM_000620.5(NOS1):c.3182C>T (p.Pro1061Leu)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2265127|NM_000620.5(NOS1):c.1858A>G (p.Asn620Asp)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2267942|NM_000620.5(NOS1):c.1043G>A (p.Arg348Lys)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2278855|NM_000620.5(NOS1):c.3329C>T (p.Thr1110Met)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2281235|NM_000620.5(NOS1):c.3908A>G (p.Gln1303Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2291794|NM_000620.5(NOS1):c.500A>G (p.Gln167Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2293537|NM_000620.5(NOS1):c.2101C>T (p.Leu701Phe)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2294418|NM_000620.5(NOS1):c.341A>T (p.Asp114Val)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2297665|NM_000620.5(NOS1):c.911G>A (p.Arg304His)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2315121|NM_000620.5(NOS1):c.829A>G (p.Asn277Asp)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2337512|NM_000620.5(NOS1):c.599G>A (p.Gly200Glu)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2342071|NM_000620.5(NOS1):c.820G>A (p.Val274Ile)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2349996|NM_000620.5(NOS1):c.659G>A (p.Ser220Asn)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2350629|NM_000620.5(NOS1):c.3164G>A (p.Arg1055Gln)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2370227|NM_000620.5(NOS1):c.766G>A (p.Val256Met)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2373643|NM_000620.5(NOS1):c.110G>A (p.Ser37Asn)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2375825|NM_000620.5(NOS1):c.3608G>A (p.Arg1203His)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2386757|NM_000620.5(NOS1):c.2021G>A (p.Arg674Gln)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2395714|NM_000620.5(NOS1):c.19G>A (p.Gly7Ser)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2399302|NM_000620.5(NOS1):c.56G>A (p.Arg19His)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2459330|NM_000620.5(NOS1):c.3061C>T (p.Arg1021Cys)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2462273|NM_000620.5(NOS1):c.294G>C (p.Arg98Ser)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2466113|NM_000620.5(NOS1):c.788A>G (p.Asn263Ser)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2491627|NM_000620.5(NOS1):c.2064G>A (p.Met688Ile)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2492569|NM_000620.5(NOS1):c.485C>T (p.Ala162Val)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2519833|NM_000620.5(NOS1):c.334A>G (p.Thr112Ala)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2525476|NM_000620.5(NOS1):c.1416C>G (p.Asp472Glu)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2530574|NM_000620.5(NOS1):c.2532-2278C>T|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2533386|NM_000620.5(NOS1):c.4291G>A (p.Val1431Ile)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2546500|NM_000620.5(NOS1):c.804G>T (p.Lys268Asn)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2570851|NM_000620.5(NOS1):c.784T>G (p.Phe262Val)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2590182|NM_000620.5(NOS1):c.2596G>A (p.Gly866Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2595935|NM_000620.5(NOS1):c.2863A>G (p.Ile955Val)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2598708|NM_000620.5(NOS1):c.397G>A (p.Val133Met)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2608208|NM_000620.5(NOS1):c.899C>T (p.Ser300Phe)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2611389|NM_000620.5(NOS1):c.1339A>T (p.Ile447Phe)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2615140|NM_000620.5(NOS1):c.599G>C (p.Gly200Ala)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2643374|NM_000620.5(NOS1):c.4287T>C (p.Asp1429=)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2643375|NM_000620.5(NOS1):c.3048A>C (p.Ser1016=)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2643376|NM_000620.5(NOS1):c.2479G>A (p.Gly827Ser)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2643377|NM_000620.5(NOS1):c.1425C>T (p.His475=)|single nucleotide variant|Benign|NOS1|criteria provided, single submitter|12","3033399|NM_000620.5(NOS1):c.*8C>T|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3034810|NM_000620.5(NOS1):c.559C>T (p.Pro187Ser)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3034912|NM_000620.5(NOS1):c.3159C>T (p.Ile1053=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3039557|NM_000620.5(NOS1):c.2532-2233A>G|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3047236|NM_000620.5(NOS1):c.3225C>T (p.Asn1075=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3047601|NM_000620.5(NOS1):c.432A>G (p.Glu144=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3048233|NM_000620.5(NOS1):c.987G>A (p.Thr329=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3049236|NM_000620.5(NOS1):c.1596C>T (p.Asn532=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3050294|NM_000620.5(NOS1):c.4057G>A (p.Val1353Ile)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3052307|NM_000620.5(NOS1):c.2661T>C (p.Phe887=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3053861|NM_000620.5(NOS1):c.2532-2256C>A|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3055936|NM_000620.5(NOS1):c.2601C>T (p.Pro867=)|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3058237|NM_000620.5(NOS1):c.2154G>A (p.Thr718=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3059601|NM_000620.5(NOS1):c.2532-2258C>T|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3059998|NM_000620.5(NOS1):c.4059C>A (p.Val1353=)|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3060480|NM_000620.5(NOS1):c.2202T>C (p.Ile734=)|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3060800|NM_000620.5(NOS1):c.2706C>T (p.His902=)|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3061017|NM_000620.5(NOS1):c.3258C>T (p.Asp1086=)|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3201273|NM_000620.5(NOS1):c.1061G>A (p.Arg354His)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201274|NM_000620.5(NOS1):c.143G>A (p.Arg48His)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201275|NM_000620.5(NOS1):c.1514A>C (p.Gln505Pro)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201276|NM_000620.5(NOS1):c.154G>A (p.Ala52Thr)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201277|NM_000620.5(NOS1):c.1877C>T (p.Thr626Met)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201278|NM_000620.5(NOS1):c.2278G>A (p.Ala760Thr)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201279|NM_000620.5(NOS1):c.2532-2218T>A|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201280|NM_000620.5(NOS1):c.2972A>G (p.Asn991Ser)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","3201281|NM_000620.5(NOS1):c.3058G>A (p.Val1020Met)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201283|NM_000620.5(NOS1):c.3769G>A (p.Gly1257Ser)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201285|NM_000620.5(NOS1):c.4147G>A (p.Gly1383Ser)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201286|NM_000620.5(NOS1):c.4234C>T (p.Arg1412Cys)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201287|NM_000620.5(NOS1):c.4262T>C (p.Ile1421Thr)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201288|NM_000620.5(NOS1):c.520C>G (p.His174Asp)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201289|NM_000620.5(NOS1):c.647T>C (p.Leu216Pro)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201290|NM_000620.5(NOS1):c.769G>C (p.Glu257Gln)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3201291|NM_000620.5(NOS1):c.904T>C (p.Cys302Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3300383|NM_000620.5(NOS1):c.335C>T (p.Thr112Ile)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3300384|NM_000620.5(NOS1):c.1417G>A (p.Gly473Ser)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3300385|NM_000620.5(NOS1):c.2532-2255C>T|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3300387|NM_000620.5(NOS1):c.3491C>T (p.Pro1164Leu)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3300388|NM_000620.5(NOS1):c.2534G>A (p.Ser845Asn)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3300389|NM_000620.5(NOS1):c.1597G>A (p.Gly533Ser)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3300390|NM_000620.5(NOS1):c.2899C>T (p.Arg967Cys)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3300391|NM_000620.5(NOS1):c.2705A>G (p.His902Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3300392|NM_000620.5(NOS1):c.490G>A (p.Asp164Asn)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3300393|NM_000620.5(NOS1):c.782T>C (p.Val261Ala)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3350648|NM_000620.5(NOS1):c.1689G>A (p.Gly563=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3350908|NM_000620.5(NOS1):c.3020del (p.Asn1007fs)|Deletion|Uncertain significance|NOS1|no assertion criteria provided|12","3406751|NM_000620.5(NOS1):c.2377A>G (p.Met793Val)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12"]},{"input":"NOS1","source":"HGNC:23044|nanos C2HC-type zinc finger 1","targets":["1012559|NM_199461.4(NANOS1):c.483_512del (p.Leu162_Ala171del)|Deletion|Uncertain significance|NANOS1|criteria provided, single submitter|10","1233504|NM_199461.4(NANOS1):c.100C>A (p.Pro34Thr)|single nucleotide variant|Benign|NANOS1|criteria provided, multiple submitters, no conflicts|10","1268518|NM_199461.4(NANOS1):c.-51G>C|single nucleotide variant|Benign|NANOS1|criteria provided, multiple submitters, no conflicts|10","14012|NC_000012.12:g.117439680C>T|single nucleotide variant|Uncertain significance|NOS1|no assertion criteria provided|12","208544|NM_000620.5(NOS1):c.3606C>G (p.Tyr1202Ter)|single nucleotide variant|Uncertain significance|NOS1|no assertion criteria provided|12","2205665|NM_000620.5(NOS1):c.2532-2185A>G|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2224811|NM_000620.5(NOS1):c.2303C>T (p.Thr768Ile)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2226383|NM_000620.5(NOS1):c.1313C>A (p.Thr438Asn)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2230441|NM_000620.5(NOS1):c.4078G>T (p.Ala1360Ser)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2240778|NM_000620.5(NOS1):c.3259G>A (p.Glu1087Lys)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2243735|NM_000620.5(NOS1):c.2176G>A (p.Gly726Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2253379|NM_000620.5(NOS1):c.4018G>A (p.Val1340Met)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2255859|NM_000620.5(NOS1):c.3614G>A (p.Arg1205Gln)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2261214|NM_000620.5(NOS1):c.1172A>G (p.Lys391Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2261265|NM_000620.5(NOS1):c.3182C>T (p.Pro1061Leu)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2265127|NM_000620.5(NOS1):c.1858A>G (p.Asn620Asp)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2267942|NM_000620.5(NOS1):c.1043G>A (p.Arg348Lys)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2273664|NM_199461.4(NANOS1):c.657C>G (p.Asn219Lys)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2277088|NM_199461.4(NANOS1):c.19G>T (p.Ala7Ser)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2278855|NM_000620.5(NOS1):c.3329C>T (p.Thr1110Met)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2281235|NM_000620.5(NOS1):c.3908A>G (p.Gln1303Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2291794|NM_000620.5(NOS1):c.500A>G (p.Gln167Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2293537|NM_000620.5(NOS1):c.2101C>T (p.Leu701Phe)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2294418|NM_000620.5(NOS1):c.341A>T (p.Asp114Val)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2297665|NM_000620.5(NOS1):c.911G>A (p.Arg304His)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2313842|NM_199461.4(NANOS1):c.38G>A (p.Arg13His)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2315121|NM_000620.5(NOS1):c.829A>G (p.Asn277Asp)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2320034|NM_199461.4(NANOS1):c.41G>A (p.Gly14Asp)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2323626|NM_199461.4(NANOS1):c.518C>T (p.Ala173Val)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2337512|NM_000620.5(NOS1):c.599G>A (p.Gly200Glu)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2342071|NM_000620.5(NOS1):c.820G>A (p.Val274Ile)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2349996|NM_000620.5(NOS1):c.659G>A (p.Ser220Asn)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2350629|NM_000620.5(NOS1):c.3164G>A (p.Arg1055Gln)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2350957|NM_199461.4(NANOS1):c.53C>T (p.Pro18Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|NANOS1|criteria provided, conflicting classifications|10","2370227|NM_000620.5(NOS1):c.766G>A (p.Val256Met)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2373643|NM_000620.5(NOS1):c.110G>A (p.Ser37Asn)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2375825|NM_000620.5(NOS1):c.3608G>A (p.Arg1203His)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2386757|NM_000620.5(NOS1):c.2021G>A (p.Arg674Gln)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2386887|NM_199461.4(NANOS1):c.353C>A (p.Ser118Tyr)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2395714|NM_000620.5(NOS1):c.19G>A (p.Gly7Ser)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2399302|NM_000620.5(NOS1):c.56G>A (p.Arg19His)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2402597|NM_199461.4(NANOS1):c.556G>C (p.Ala186Pro)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2459330|NM_000620.5(NOS1):c.3061C>T (p.Arg1021Cys)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2459898|NM_199461.4(NANOS1):c.520A>G (p.Thr174Ala)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2462273|NM_000620.5(NOS1):c.294G>C (p.Arg98Ser)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2466113|NM_000620.5(NOS1):c.788A>G (p.Asn263Ser)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2476673|NM_199461.4(NANOS1):c.613C>G (p.Arg205Gly)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2491627|NM_000620.5(NOS1):c.2064G>A (p.Met688Ile)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2492569|NM_000620.5(NOS1):c.485C>T (p.Ala162Val)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2510620|NM_199461.4(NANOS1):c.674C>G (p.Ala225Gly)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2515391|NM_199461.4(NANOS1):c.95C>A (p.Pro32Gln)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2519833|NM_000620.5(NOS1):c.334A>G (p.Thr112Ala)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2520451|NM_199461.4(NANOS1):c.52C>G (p.Pro18Ala)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2525476|NM_000620.5(NOS1):c.1416C>G (p.Asp472Glu)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2530574|NM_000620.5(NOS1):c.2532-2278C>T|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2533386|NM_000620.5(NOS1):c.4291G>A (p.Val1431Ile)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2534304|NM_199461.4(NANOS1):c.410G>A (p.Gly137Asp)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2534305|NM_199461.4(NANOS1):c.415G>T (p.Ala139Ser)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2534306|NM_199461.4(NANOS1):c.670A>G (p.Met224Val)|single nucleotide variant|Likely benign|NANOS1|criteria provided, single submitter|10","2546500|NM_000620.5(NOS1):c.804G>T (p.Lys268Asn)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2569407|NM_199461.4(NANOS1):c.373A>G (p.Ser125Gly)|single nucleotide variant|Likely benign|NANOS1|criteria provided, single submitter|10","2569408|NM_199461.4(NANOS1):c.376G>A (p.Ala126Thr)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2570851|NM_000620.5(NOS1):c.784T>G (p.Phe262Val)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2582882|NM_199461.4(NANOS1):c.413C>G (p.Pro138Arg)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2590182|NM_000620.5(NOS1):c.2596G>A (p.Gly866Arg)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2595935|NM_000620.5(NOS1):c.2863A>G (p.Ile955Val)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2598708|NM_000620.5(NOS1):c.397G>A (p.Val133Met)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2608208|NM_000620.5(NOS1):c.899C>T (p.Ser300Phe)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2611389|NM_000620.5(NOS1):c.1339A>T (p.Ile447Phe)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2615140|NM_000620.5(NOS1):c.599G>C (p.Gly200Ala)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","2617015|NM_199461.4(NANOS1):c.562G>A (p.Ala188Thr)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2621431|NM_199461.4(NANOS1):c.580C>T (p.Arg194Trp)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","2643374|NM_000620.5(NOS1):c.4287T>C (p.Asp1429=)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2643375|NM_000620.5(NOS1):c.3048A>C (p.Ser1016=)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2643376|NM_000620.5(NOS1):c.2479G>A (p.Gly827Ser)|single nucleotide variant|Likely benign|NOS1|criteria provided, single submitter|12","2643377|NM_000620.5(NOS1):c.1425C>T (p.His475=)|single nucleotide variant|Benign|NOS1|criteria provided, single submitter|12","3033399|NM_000620.5(NOS1):c.*8C>T|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3034810|NM_000620.5(NOS1):c.559C>T (p.Pro187Ser)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3034912|NM_000620.5(NOS1):c.3159C>T (p.Ile1053=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3039557|NM_000620.5(NOS1):c.2532-2233A>G|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3042603|NM_199461.4(NANOS1):c.502GCC[3] (p.Ala171_Ala173del)|Microsatellite|Likely benign|NANOS1|no assertion criteria provided|10","3047236|NM_000620.5(NOS1):c.3225C>T (p.Asn1075=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3047601|NM_000620.5(NOS1):c.432A>G (p.Glu144=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3048233|NM_000620.5(NOS1):c.987G>A (p.Thr329=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3049116|NM_199461.4(NANOS1):c.502GCC[7] (p.Ala173_Thr174insAla)|Microsatellite|Benign|NANOS1|no assertion criteria provided|10","3049236|NM_000620.5(NOS1):c.1596C>T (p.Asn532=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3050294|NM_000620.5(NOS1):c.4057G>A (p.Val1353Ile)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12","3052307|NM_000620.5(NOS1):c.2661T>C (p.Phe887=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3053861|NM_000620.5(NOS1):c.2532-2256C>A|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3055936|NM_000620.5(NOS1):c.2601C>T (p.Pro867=)|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3058237|NM_000620.5(NOS1):c.2154G>A (p.Thr718=)|single nucleotide variant|Likely benign|NOS1|no assertion criteria provided|12","3059601|NM_000620.5(NOS1):c.2532-2258C>T|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3059998|NM_000620.5(NOS1):c.4059C>A (p.Val1353=)|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3060480|NM_000620.5(NOS1):c.2202T>C (p.Ile734=)|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3060800|NM_000620.5(NOS1):c.2706C>T (p.His902=)|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3061017|NM_000620.5(NOS1):c.3258C>T (p.Asp1086=)|single nucleotide variant|Benign|NOS1|no assertion criteria provided|12","3174654|NM_199461.4(NANOS1):c.635A>C (p.Gln212Pro)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","3174661|NM_199461.4(NANOS1):c.664G>A (p.Glu222Lys)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","3174687|NM_199461.4(NANOS1):c.95C>T (p.Pro32Leu)|single nucleotide variant|Uncertain significance|NANOS1|criteria provided, single submitter|10","3201273|NM_000620.5(NOS1):c.1061G>A (p.Arg354His)|single nucleotide variant|Uncertain significance|NOS1|criteria provided, single submitter|12"]},{"input":"ERAP1","source":"HGNC:18173|endoplasmic reticulum aminopeptidase 1","targets":["1222451|NM_001750.7(CAST):c.1933-161G>C|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","1232399|NM_001750.7(CAST):c.2038-237_2038-234del|Deletion|Benign|ERAP1|criteria provided, single submitter|5","1252875|NM_001040458.3(ERAP1):c.*321T>C|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","1277927|NC_000005.10:g.96875556A>G|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","1278838|NM_001750.7(CAST):c.2130+95A>G|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","1280185|NM_001040458.3(ERAP1):c.1037G>A (p.Gly346Asp)|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","1286868|NM_001750.7(CAST):c.2131-32A>G|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","1287401|NM_001040458.3(ERAP1):c.1068T>C (p.Ala356=)|single nucleotide variant|Benign|ERAP1|criteria provided, multiple submitters, no conflicts|5","1289806|NM_001750.7(CAST):c.2130+110C>T|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","198587|NM_022350.5(ERAP2):c.1232T>G (p.Leu411Arg)|single nucleotide variant|Benign/Likely benign|ERAP1|criteria provided, multiple submitters, no conflicts|5","207936|NM_001040458.3(ERAP1):c.955A>G (p.Met319Val)|single nucleotide variant|Likely benign|ERAP1|no assertion criteria provided|5","2204008|NM_022350.5(ERAP2):c.858C>G (p.Ile286Met)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2211914|NM_022350.5(ERAP2):c.835T>G (p.Ser279Ala)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2232451|NM_022350.5(ERAP2):c.2431C>G (p.Gln811Glu)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2237270|NM_001040458.3(ERAP1):c.1330A>G (p.Ile444Val)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2246534|NM_001040458.3(ERAP1):c.1469G>C (p.Gly490Ala)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2251927|NM_022350.5(ERAP2):c.1429G>C (p.Gly477Arg)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2254251|NM_001040458.3(ERAP1):c.463C>T (p.Leu155Phe)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2254921|NM_001040458.3(ERAP1):c.1636C>G (p.Gln546Glu)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2259245|NM_001040458.3(ERAP1):c.218C>A (p.Thr73Lys)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2265909|NM_022350.5(ERAP2):c.2707G>A (p.Ala903Thr)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2270788|NM_001040458.3(ERAP1):c.2659C>T (p.Arg887Trp)|single nucleotide variant|Likely benign|ERAP1|criteria provided, single submitter|5","2274012|NM_022350.5(ERAP2):c.128G>C (p.Ser43Thr)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2275765|NM_001040458.3(ERAP1):c.532G>T (p.Ala178Ser)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2283814|NM_022350.5(ERAP2):c.1613T>G (p.Met538Arg)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2284647|NM_022350.5(ERAP2):c.1885G>A (p.Gly629Ser)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2293589|NM_001040458.3(ERAP1):c.2332A>G (p.Ser778Gly)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2293863|NM_022350.5(ERAP2):c.1319C>T (p.Ala440Val)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2296572|NM_001040458.3(ERAP1):c.2353C>T (p.Leu785Phe)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2311102|NM_022350.5(ERAP2):c.2797A>C (p.Thr933Pro)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2311952|NM_001040458.3(ERAP1):c.2362A>G (p.Lys788Glu)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2318837|NM_022350.5(ERAP2):c.1611G>C (p.Met537Ile)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2325859|NM_022350.5(ERAP2):c.1177G>A (p.Glu393Lys)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2327014|NM_022350.5(ERAP2):c.89C>A (p.Pro30His)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2329812|NM_022350.5(ERAP2):c.2437G>A (p.Glu813Lys)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2332541|NM_001040458.3(ERAP1):c.2209G>A (p.Val737Met)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2334518|NM_001040458.3(ERAP1):c.218C>T (p.Thr73Met)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2341351|NM_022350.5(ERAP2):c.1469C>A (p.Ala490Asp)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2347636|NM_022350.5(ERAP2):c.2255C>T (p.Ser752Leu)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2350952|NM_022350.5(ERAP2):c.2572C>G (p.Leu858Val)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2352452|NM_001040458.3(ERAP1):c.1946T>C (p.Ile649Thr)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2353032|NM_022350.5(ERAP2):c.114C>G (p.Phe38Leu)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2357686|NM_022350.5(ERAP2):c.2594G>A (p.Arg865His)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2361004|NM_001040458.3(ERAP1):c.1839G>T (p.Glu613Asp)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2363491|NM_022350.5(ERAP2):c.2153T>C (p.Ile718Thr)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2363609|NM_001040458.3(ERAP1):c.2296G>A (p.Asp766Asn)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2370797|NM_001040458.3(ERAP1):c.1296G>T (p.Met432Ile)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2375182|NM_001040458.3(ERAP1):c.805G>C (p.Val269Leu)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2375745|NM_022350.5(ERAP2):c.877C>T (p.Arg293Trp)|single nucleotide variant|Likely benign|ERAP1|criteria provided, single submitter|5","2378149|NM_022350.5(ERAP2):c.2735A>G (p.Gln912Arg)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2383172|NM_001040458.3(ERAP1):c.2689T>C (p.Ser897Pro)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2385397|NM_001040458.3(ERAP1):c.2012T>A (p.Met671Lys)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2393679|NM_022350.5(ERAP2):c.292G>A (p.Glu98Lys)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2398377|NM_022350.5(ERAP2):c.83T>C (p.Ile28Thr)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2405055|NM_001040458.3(ERAP1):c.1210T>C (p.Cys404Arg)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2408002|NM_022350.5(ERAP2):c.2873T>G (p.Val958Gly)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2410046|NM_001040458.3(ERAP1):c.605G>A (p.Ser202Asn)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2463041|NM_022350.5(ERAP2):c.1904A>G (p.Tyr635Cys)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2463835|NM_001040458.3(ERAP1):c.2471G>C (p.Gly824Ala)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2464505|NM_022350.5(ERAP2):c.614G>A (p.Arg205His)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2470840|NM_022350.5(ERAP2):c.769G>A (p.Val257Ile)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2476879|NM_022350.5(ERAP2):c.2341A>G (p.Ser781Gly)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2483435|NM_001040458.3(ERAP1):c.1285A>G (p.Ile429Val)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2513902|NM_022350.5(ERAP2):c.2207G>A (p.Arg736Lys)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2514005|NM_001040458.3(ERAP1):c.2551C>A (p.Gln851Lys)|single nucleotide variant|Likely benign|ERAP1|criteria provided, single submitter|5","2522483|NM_001040458.3(ERAP1):c.122G>A (p.Arg41His)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2522649|NM_001040458.3(ERAP1):c.1522T>A (p.Ser508Thr)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2529381|NM_001040458.3(ERAP1):c.2677G>A (p.Gly893Arg)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2545743|NM_022350.5(ERAP2):c.1957C>A (p.Leu653Ile)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2558945|NM_022350.5(ERAP2):c.1655T>A (p.Val552Asp)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2596891|NM_022350.5(ERAP2):c.1473G>T (p.Lys491Asn)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2596892|NM_022350.5(ERAP2):c.1474A>T (p.Asn492Tyr)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2597247|NM_022350.5(ERAP2):c.2342G>C (p.Ser781Thr)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2599026|NM_022350.5(ERAP2):c.329T>C (p.Leu110Ser)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2601743|NM_001040458.3(ERAP1):c.2640T>G (p.Asn880Lys)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2612418|NM_001040458.3(ERAP1):c.1714A>G (p.Ser572Gly)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2655597|NM_001040458.3(ERAP1):c.2496T>C (p.Phe832=)|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2655598|NM_001040458.3(ERAP1):c.1939G>A (p.Val647Ile)|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2655599|NM_001040458.3(ERAP1):c.1852G>T (p.Asp618Tyr)|single nucleotide variant|Conflicting classifications of pathogenicity|ERAP1|criteria provided, conflicting classifications|5","2655600|NM_022350.5(ERAP2):c.637G>T (p.Glu213Ter)|single nucleotide variant|Uncertain significance|ERAP1|criteria provided, single submitter|5","2655601|NM_022350.5(ERAP2):c.909A>G (p.Ser303=)|single nucleotide variant|Likely benign|ERAP1|criteria provided, single submitter|5","2673016|NM_001040458.3(ERAP1):c.468G>A (p.Ser156=)|single nucleotide variant|Likely benign|ERAP1|criteria provided, single submitter|5","2688309|NM_001040458.3(ERAP1):c.2100+46_2100+47dup|Duplication|Benign|ERAP1|criteria provided, single submitter|5","2688356|NM_001040458.3(ERAP1):c.1760-40G>A|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688357|NM_001040458.3(ERAP1):c.1680-7A>C|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688358|NM_001040458.3(ERAP1):c.1680-28T>G|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688359|NM_001040458.3(ERAP1):c.1583A>G (p.Lys528Arg)|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688360|NM_001040458.3(ERAP1):c.1524+89G>A|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688361|NM_001040458.3(ERAP1):c.1452+18T>C|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688362|NM_001040458.3(ERAP1):c.1359T>C (p.Ser453=)|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688369|NM_001040458.3(ERAP1):c.1911G>A (p.Ala637=)|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688393|NM_001040458.3(ERAP1):c.2100+47_2100+48dup|Duplication|Benign|ERAP1|criteria provided, single submitter|5","2688414|NM_001040458.3(ERAP1):c.663+40A>G|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688424|NM_001040458.3(ERAP1):c.2448-38C>T|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688437|NM_001040458.3(ERAP1):c.1251C>T (p.His417=)|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688446|NM_001040458.3(ERAP1):c.*17A>C|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688452|NM_001040458.3(ERAP1):c.1943+121dup|Duplication|Benign|ERAP1|criteria provided, single submitter|5","2688453|NM_001040458.3(ERAP1):c.35C>T (p.Thr12Ile)|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688459|NM_001040458.3(ERAP1):c.1943+86T>C|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5","2688460|NM_001040458.3(ERAP1):c.828A>G (p.Ile276Met)|single nucleotide variant|Benign|ERAP1|criteria provided, single submitter|5"]},{"input":"BMP4","source":"HGNC:1071|bone morphogenetic protein 4","targets":["1006001|NM_001202.6(BMP4):c.935C>T (p.Ser312Leu)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","1022631|NM_001202.6(BMP4):c.857G>A (p.Arg286Gln)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","1071168|NC_000014.8:g.(?_54416336)_54418690del|Deletion|Pathogenic|BMP4|criteria provided, single submitter|","1098358|NM_001202.6(BMP4):c.666del (p.Arg223fs)|Deletion|Likely pathogenic|BMP4|criteria provided, single submitter|14","1167991|NM_001202.6(BMP4):c.370+160C>T|single nucleotide variant|Benign|BMP4|criteria provided, multiple submitters, no conflicts|14","1167992|NM_001202.6(BMP4):c.-7-159T>G|single nucleotide variant|Benign|BMP4|criteria provided, multiple submitters, no conflicts|14","1167993|NM_001202.6(BMP4):c.-7-163C>G|single nucleotide variant|Benign|BMP4|criteria provided, multiple submitters, no conflicts|14","1189262|NM_001202.6(BMP4):c.*148del|Deletion|Likely benign|BMP4|criteria provided, single submitter|14","1192498|NM_001202.6(BMP4):c.-7-39A>G|single nucleotide variant|Benign|BMP4|criteria provided, multiple submitters, no conflicts|14","1192499|NM_001202.6(BMP4):c.-8+29C>T|single nucleotide variant|Benign|BMP4|criteria provided, multiple submitters, no conflicts|14","1192500|NM_001202.6(BMP4):c.-132-117A>G|single nucleotide variant|Benign|BMP4|criteria provided, multiple submitters, no conflicts|14","1195040|NM_001202.6(BMP4):c.677G>A (p.Arg226Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|BMP4|criteria provided, conflicting classifications|14","1205512|NM_001202.6(BMP4):c.371-24C>T|single nucleotide variant|Likely benign|BMP4|criteria provided, multiple submitters, no conflicts|14","1256684|NC_000014.9:g.53949729del|Deletion|Benign|BMP4|criteria provided, single submitter|14","1284650|NM_001202.6(BMP4):c.348C>T (p.Thr116=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","1285542|NM_001202.6(BMP4):c.184C>G (p.Leu62Val)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","1291561|NM_001202.6(BMP4):c.-7-133G>C|single nucleotide variant|Benign|BMP4|criteria provided, multiple submitters, no conflicts|14","1307713|NM_001202.6(BMP4):c.928C>T (p.Arg310Cys)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","1308531|NM_001202.6(BMP4):c.818T>C (p.Val273Ala)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1311100|NM_001202.6(BMP4):c.351G>A (p.Val117=)|single nucleotide variant|Conflicting classifications of pathogenicity|BMP4|criteria provided, conflicting classifications|14","1311175|NM_001202.6(BMP4):c.370+1G>T|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1327682|NM_001202.6(BMP4):c.398G>A (p.Ser133Asn)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1328190|NM_001202.6(BMP4):c.1001C>A (p.Ala334Asp)|single nucleotide variant|Uncertain significance|BMP4|no assertion criteria provided|14","1331305|NM_001202.6(BMP4):c.766C>T (p.Arg256Ter)|single nucleotide variant|Pathogenic|BMP4|criteria provided, single submitter|14","1346066|NM_001202.6(BMP4):c.17G>A (p.Arg6Gln)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","1349863|NM_001202.6(BMP4):c.979G>A (p.Val327Met)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1352611|NM_001202.6(BMP4):c.200T>A (p.Leu67Gln)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1368151|NM_001202.6(BMP4):c.475C>T (p.Arg159Trp)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","1371084|NM_001202.6(BMP4):c.668G>A (p.Arg223His)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","1381981|NM_001202.6(BMP4):c.118G>A (p.Gly40Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|BMP4|criteria provided, conflicting classifications|14","1424062|NM_001202.6(BMP4):c.568G>A (p.Val190Met)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1429870|NM_001202.6(BMP4):c.153T>G (p.His51Gln)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1434076|NM_001202.6(BMP4):c.220A>G (p.Ser74Gly)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1458344|NM_001202.6(BMP4):c.205_214del (p.Arg69fs)|Deletion|Pathogenic|BMP4|criteria provided, single submitter|14","1472848|NM_001202.6(BMP4):c.1085A>G (p.Asn362Ser)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1473583|NM_001202.6(BMP4):c.1223G>A (p.Arg408His)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","1474402|NM_001202.6(BMP4):c.436A>G (p.Ser146Gly)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1484975|NM_001202.6(BMP4):c.295A>G (p.Ile99Val)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1507407|NM_001202.6(BMP4):c.481T>C (p.Phe161Leu)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","1527818|GRCh37/hg19 14q22.1-22.3(chr14:53241194-55803026)|copy number loss|Pathogenic|BMP4|criteria provided, single submitter|14","1536146|NM_001202.6(BMP4):c.159C>T (p.Leu53=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","1550225|NM_001202.6(BMP4):c.357C>T (p.Ser119=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","1559025|NM_001202.6(BMP4):c.510T>C (p.Asp170=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","1566916|NM_001202.6(BMP4):c.1032A>G (p.Pro344=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","1595389|NM_001202.6(BMP4):c.485G>A (p.Arg162Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|BMP4|criteria provided, conflicting classifications|14","1643916|NM_001202.6(BMP4):c.240G>T (p.Pro80=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","1672848|NM_001202.6(BMP4):c.1179A>G (p.Val393=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","1678395|NM_001202.6(BMP4):c.-8_-8+40del|Deletion|Uncertain significance|BMP4|criteria provided, single submitter|14","1691786|NM_001202.6(BMP4):c.863G>A (p.Arg288Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|BMP4|criteria provided, conflicting classifications|14","1705059|NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","1710338|NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)|single nucleotide variant|Likely pathogenic|BMP4|criteria provided, single submitter|14","1710448|NM_001202.6(BMP4):c.683A>G (p.Lys228Arg)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","17700|NM_001202.6(BMP4):c.226_227del (p.Ser76fs)|Microsatellite|Pathogenic|BMP4|no assertion criteria provided|14","17701|NM_001202.6(BMP4):c.278A>G (p.Glu93Gly)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","17702|NM_001202.6(BMP4):c.1037C>T (p.Ala346Val)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","17703|NM_001202.6(BMP4):c.272C>G (p.Ser91Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|BMP4|criteria provided, conflicting classifications|14","17704|NM_001202.6(BMP4):c.860G>A (p.Arg287His)|single nucleotide variant|Benign/Likely benign|BMP4|criteria provided, multiple submitters, no conflicts|14","1805464|NM_001202.6(BMP4):c.169T>C (p.Phe57Leu)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1916037|NM_001202.6(BMP4):c.667C>T (p.Arg223Cys)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1964148|NM_001202.6(BMP4):c.383A>G (p.Asn128Ser)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","1965934|NM_001202.6(BMP4):c.484C>T (p.Arg162Trp)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","197190|NM_001202.6(BMP4):c.455T>C (p.Val152Ala)|single nucleotide variant|Benign/Likely benign|BMP4|criteria provided, multiple submitters, no conflicts|14","1974220|NM_001202.6(BMP4):c.123C>T (p.His41=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","1974575|NM_001202.6(BMP4):c.280G>A (p.Glu94Lys)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1975435|NM_001202.6(BMP4):c.370+19T>C|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","1989064|NM_001202.6(BMP4):c.348C>G (p.Thr116=)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1991666|NM_001202.6(BMP4):c.442C>T (p.Pro148Ser)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1992546|NM_001202.6(BMP4):c.979G>T (p.Val327Leu)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","1998403|NM_001202.6(BMP4):c.451G>A (p.Glu151Lys)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2034083|NM_001202.6(BMP4):c.671G>A (p.Trp224Ter)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2063217|NM_001202.6(BMP4):c.838C>T (p.Arg280Trp)|single nucleotide variant|Conflicting classifications of pathogenicity|BMP4|criteria provided, conflicting classifications|14","2068577|NM_001202.6(BMP4):c.476G>A (p.Arg159Gln)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2079294|NM_001202.6(BMP4):c.416G>A (p.Arg139His)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2083667|NM_001202.6(BMP4):c.416G>T (p.Arg139Leu)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2088855|NM_001202.6(BMP4):c.810C>A (p.Pro270=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","2108289|NM_001202.6(BMP4):c.63G>C (p.Ala21=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","2113889|NM_001202.6(BMP4):c.859C>T (p.Arg287Cys)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2119344|NM_001202.6(BMP4):c.430C>G (p.Leu144Val)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2121916|NM_001202.6(BMP4):c.63G>A (p.Ala21=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","2137587|NM_001202.6(BMP4):c.250C>T (p.Arg84Trp)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2142241|NM_001202.6(BMP4):c.1076C>T (p.Thr359Ile)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2143882|NM_001202.6(BMP4):c.862C>T (p.Arg288Trp)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","2157168|NM_001202.6(BMP4):c.839G>A (p.Arg280Gln)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","2158401|NM_001202.6(BMP4):c.89C>T (p.Thr30Met)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","2159415|NM_001202.6(BMP4):c.168C>A (p.Asp56Glu)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2163080|NM_001202.6(BMP4):c.731C>T (p.Thr244Ile)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","2163081|NM_001202.6(BMP4):c.213G>T (p.Pro71=)|single nucleotide variant|Benign|BMP4|criteria provided, single submitter|14","2167153|NM_001202.6(BMP4):c.1042C>T (p.His348Tyr)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2167325|NM_001202.6(BMP4):c.632G>A (p.Arg211Gln)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","2169277|NM_001202.6(BMP4):c.1209G>A (p.Glu403=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","2181626|NM_001202.6(BMP4):c.605C>T (p.Thr202Met)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2200149|NM_001202.6(BMP4):c.813C>T (p.Leu271=)|single nucleotide variant|Likely benign|BMP4|criteria provided, single submitter|14","2205310|NM_001202.6(BMP4):c.1099A>C (p.Ser367Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|BMP4|criteria provided, conflicting classifications|14","2211655|NM_001202.6(BMP4):c.496G>A (p.Asp166Asn)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2214282|NM_001202.6(BMP4):c.593G>A (p.Arg198Gln)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","225304|NM_001202.6(BMP4):c.751C>T (p.His251Tyr)|single nucleotide variant|Conflicting classifications of pathogenicity|BMP4|criteria provided, conflicting classifications|14","2273311|NM_001202.6(BMP4):c.251G>A (p.Arg84Gln)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14","2284292|NM_001202.6(BMP4):c.373C>T (p.His125Tyr)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2301648|NM_001202.6(BMP4):c.1171A>G (p.Lys391Glu)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, single submitter|14","2381876|NM_001202.6(BMP4):c.88A>G (p.Thr30Ala)|single nucleotide variant|Uncertain significance|BMP4|criteria provided, multiple submitters, no conflicts|14"]}]}