{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:28337,10,HGNC:28337,73,2]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:28337","source":"HGNC:28337|C9orf72-SMCR8 complex subunit","targets":["1192639|NM_018325.5(C9orf72):c.665+115_665+117dup|Duplication|Benign|C9orf72|criteria provided, single submitter|9","1192640|NM_018325.5(C9orf72):c.600+27A>G|single nucleotide variant|Benign|C9orf72|criteria provided, multiple submitters, no conflicts|9","1340103|GRCh37/hg19 9p21.2(chr9:27408331-27983086)x3|copy number gain|Uncertain significance|C9orf72|no assertion criteria provided|9","1343330|NC_000009.12:g.27573529_27573534GGCCCC[60_?]|Microsatellite|Pathogenic|C9orf72|criteria provided, single submitter|9","1343331|NC_000009.12:g.27573529_27573534GGCCCC[24_30]|Microsatellite|Uncertain significance|C9orf72|criteria provided, single submitter|9","1410015|NC_000009.11:g.(?_26905509)_(27573526_?)dup|Duplication|Uncertain significance|C9orf72|criteria provided, single submitter|9","151162|GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1|copy number loss|Pathogenic|C9orf72|no assertion criteria provided|9","1527516|GRCh37/hg19 9p21.3-21.1(chr9:22003967-30712948)|copy number loss|Uncertain significance|C9orf72|criteria provided, single submitter|9","1527518|GRCh37/hg19 9p21.2-21.1(chr9:27348149-29866026)|copy number gain|Uncertain significance|C9orf72|criteria provided, single submitter|9","1678445|NM_145005.7(C9orf72):c.-45+10C>T|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","1807980|GRCh37/hg19 9p21.2-21.1(chr9:27257570-31635608)x1|copy number loss|Uncertain significance|C9orf72|criteria provided, single submitter|9","183033|NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25)|Microsatellite|Benign|C9orf72|no assertion criteria provided|9","183034|NG_031977.1:g.(5321_5338)ins(60_?)|Insertion|Pathogenic|C9orf72|no assertion criteria provided|9","2423694|NC_000009.11:g.(?_27047252)_(27573526_?)dup|Duplication|Uncertain significance|C9orf72|criteria provided, single submitter|9","2439621|NM_018325.5(C9orf72):c.1055C>G (p.Thr352Arg)|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","2572602|NC_000009.12:g.27536399C>T|single nucleotide variant|Uncertain significance|C9orf72|no assertion criteria provided|9","2659137|NM_018325.5(C9orf72):c.1200G>C (p.Gln400His)|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","3030356|NM_018325.5(C9orf72):c.1260-8A>C|single nucleotide variant|Likely benign|C9orf72|no assertion criteria provided|9","3045013|NM_018325.5(C9orf72):c.270G>A (p.Lys90=)|single nucleotide variant|Likely benign|C9orf72|no assertion criteria provided|9","3054781|NM_018325.5(C9orf72):c.468G>C (p.Lys156Asn)|single nucleotide variant|Likely benign|C9orf72|no assertion criteria provided|9","3065775|NM_018325.5(C9orf72):c.1048C>T (p.Gln350Ter)|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","31151|NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24]|Microsatellite|Pathogenic|C9orf72|no assertion criteria provided|9","3362477|NM_018325.5(C9orf72):c.1191C>G (p.Phe397Leu)|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","3392086|GRCh37/hg19 9p21.2-21.1(chr9:27292703-28140215)x3|copy number gain|Uncertain significance|C9orf72|criteria provided, single submitter|9","366484|NM_018325.5(C9orf72):c.*1469T>A|single nucleotide variant|Benign|C9orf72|criteria provided, single submitter|9","366485|NM_018325.5(C9orf72):c.*1406T>C|single nucleotide variant|Benign|C9orf72|criteria provided, multiple submitters, no conflicts|9","366486|NM_018325.5(C9orf72):c.*1344C>T|single nucleotide variant|Benign|C9orf72|criteria provided, multiple submitters, no conflicts|9","366487|NM_018325.5(C9orf72):c.*1262A>C|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366488|NM_018325.5(C9orf72):c.*1058G>T|single nucleotide variant|Benign|C9orf72|criteria provided, single submitter|9","366489|NM_018325.5(C9orf72):c.*1024A>G|single nucleotide variant|Benign|C9orf72|criteria provided, single submitter|9","366490|NM_018325.5(C9orf72):c.*921C>A|single nucleotide variant|Benign|C9orf72|criteria provided, multiple submitters, no conflicts|9","366491|NM_018325.5(C9orf72):c.*914A>G|single nucleotide variant|Benign|C9orf72|criteria provided, single submitter|9","366492|NM_018325.5(C9orf72):c.*837G>A|single nucleotide variant|Benign|C9orf72|criteria provided, single submitter|9","366493|NM_018325.5(C9orf72):c.*794_*797del|Deletion|Uncertain significance|C9orf72|criteria provided, single submitter|9","366494|NM_018325.5(C9orf72):c.*673T>C|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366495|NM_018325.5(C9orf72):c.*651G>T|single nucleotide variant|Benign|C9orf72|criteria provided, single submitter|9","366496|NM_018325.5(C9orf72):c.*577G>C|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366497|NM_018325.5(C9orf72):c.*552A>C|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366498|NM_018325.5(C9orf72):c.*356T>G|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366499|NM_018325.5(C9orf72):c.*317A>G|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366500|NM_018325.5(C9orf72):c.*309dup|Duplication|Likely benign|C9orf72|criteria provided, single submitter|9","366501|NM_018325.5(C9orf72):c.*250T>C|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366502|NM_018325.5(C9orf72):c.*248T>C|single nucleotide variant|Benign|C9orf72|criteria provided, multiple submitters, no conflicts|9","366503|NM_018325.5(C9orf72):c.*174C>T|single nucleotide variant|Benign|C9orf72|criteria provided, single submitter|9","366504|NM_018325.5(C9orf72):c.*122G>A|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366505|NM_018325.5(C9orf72):c.*73G>A|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366506|NM_018325.5(C9orf72):c.1426G>C (p.Asp476His)|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366507|NM_018325.5(C9orf72):c.1424G>A (p.Arg475Gln)|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366508|NM_018325.5(C9orf72):c.1404C>T (p.Phe468=)|single nucleotide variant|Benign/Likely benign|C9orf72|criteria provided, multiple submitters, no conflicts|9","366509|NM_018325.5(C9orf72):c.1260-12_1260-11insT|Insertion|Uncertain significance|C9orf72|criteria provided, single submitter|9","366510|NM_018325.5(C9orf72):c.1260-12dup|Duplication|Uncertain significance|C9orf72|criteria provided, single submitter|9","366511|NM_018325.5(C9orf72):c.1260-13_1260-12insT|Insertion|Uncertain significance|C9orf72|criteria provided, single submitter|9","366512|NM_018325.5(C9orf72):c.1260-13_1260-12insTT|Insertion|Uncertain significance|C9orf72|criteria provided, single submitter|9","366513|NM_018325.5(C9orf72):c.1260-16_1260-13dup|Duplication|Uncertain significance|C9orf72|criteria provided, single submitter|9","366514|NM_018325.5(C9orf72):c.1260-14_1260-13del|Deletion|Uncertain significance|C9orf72|criteria provided, single submitter|9","366515|NM_018325.5(C9orf72):c.1260-15_1260-13del|Deletion|Uncertain significance|C9orf72|criteria provided, single submitter|9","366516|NM_018325.5(C9orf72):c.1260-14dup|Duplication|Uncertain significance|C9orf72|criteria provided, single submitter|9","366517|NM_018325.5(C9orf72):c.1260-16_1260-14dup|Duplication|Uncertain significance|C9orf72|criteria provided, single submitter|9","366518|NM_018325.5(C9orf72):c.1260-17_1260-14dup|Duplication|Uncertain significance|C9orf72|criteria provided, single submitter|9","366519|NM_018325.5(C9orf72):c.1260-18_1260-14dup|Duplication|Uncertain significance|C9orf72|criteria provided, single submitter|9","366520|NM_018325.5(C9orf72):c.1260-14del|Deletion|Uncertain significance|C9orf72|criteria provided, multiple submitters, no conflicts|9","366521|NM_018325.5(C9orf72):c.1260-16_1260-14del|Deletion|Benign|C9orf72|criteria provided, single submitter|9","366522|NM_018325.5(C9orf72):c.1238T>C (p.Ile413Thr)|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366523|NM_018325.5(C9orf72):c.1149+9T>C|single nucleotide variant|Benign|C9orf72|criteria provided, multiple submitters, no conflicts|9","366524|NM_018325.5(C9orf72):c.870C>T (p.Ser290=)|single nucleotide variant|Benign|C9orf72|criteria provided, multiple submitters, no conflicts|9","366525|NM_018325.5(C9orf72):c.792G>T (p.Arg264Ser)|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366526|NM_018325.5(C9orf72):c.620A>G (p.Asn207Ser)|single nucleotide variant|Benign|C9orf72|criteria provided, multiple submitters, no conflicts|9","366527|NM_018325.5(C9orf72):c.462C>T (p.Val154=)|single nucleotide variant|Benign|C9orf72|criteria provided, single submitter|9","366528|NM_018325.5(C9orf72):c.288A>G (p.Ser96=)|single nucleotide variant|Benign|C9orf72|criteria provided, multiple submitters, no conflicts|9","366529|NM_018325.5(C9orf72):c.-27G>A|single nucleotide variant|Benign|C9orf72|criteria provided, multiple submitters, no conflicts|9","366530|NM_001256054.3(C9orf72):c.-47G>A|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366531|NM_001256054.3(C9orf72):c.-113C>G|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366532|NM_001256054.3(C9orf72):c.-115A>C|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","366533|NM_001256054.3(C9orf72):c.-164T>C|single nucleotide variant|Benign|C9orf72|criteria provided, single submitter|9","366534|NM_001256054.3(C9orf72):c.-169dup|Duplication|Uncertain significance|C9orf72|criteria provided, single submitter|9","366535|NM_001256054.3(C9orf72):c.-173A>G|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","385931|NM_018325.5(C9orf72):c.1387A>G (p.Ile463Val)|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","3898599|NM_018325.5(C9orf72):c.901G>C (p.Ala301Pro)|single nucleotide variant|Uncertain significance|C9orf72|criteria provided, single submitter|9","395107|GRCh37/hg19 9p21.2(chr9:27458043-27560110)x3|copy number gain|Likely benign|C9orf72|no assertion criteria provided|9","4076088|GRCh37/hg19 9p21.2(chr9:27537800-27622244)x1|copy number loss|Uncertain significance|C9orf72|criteria provided, single submitter|9","4283030|NM_018325.5(C9orf72):c.445-42_445-20del|Deletion||C9orf72||9","4355604|NM_018325.5(C9orf72):c.1260-8A>T|single nucleotide variant||C9orf72||9","4355606|NM_018325.5(C9orf72):c.1260-11A>T|single nucleotide variant||C9orf72||9","4355607|NM_018325.5(C9orf72):c.1259+55G>T|single nucleotide variant||C9orf72||9","4355608|NM_018325.5(C9orf72):c.1259+50G>T|single nucleotide variant||C9orf72||9","4355610|NM_018325.5(C9orf72):c.1150-1G>C|single nucleotide variant||C9orf72||9","4355611|NM_018325.5(C9orf72):c.1092-1G>T|single nucleotide variant||C9orf72||9","4355612|NM_018325.5(C9orf72):c.999A>G (p.Arg333=)|single nucleotide variant||C9orf72||9","4355613|NM_018325.5(C9orf72):c.870C>G (p.Ser290Arg)|single nucleotide variant||C9orf72||9","4355614|NM_018325.5(C9orf72):c.856-37G>T|single nucleotide variant||C9orf72||9","4355616|NM_018325.5(C9orf72):c.739-1G>T|single nucleotide variant||C9orf72||9","4355617|NM_018325.5(C9orf72):c.739-16A>G|single nucleotide variant||C9orf72||9","4355618|NM_018325.5(C9orf72):c.505-1G>T|single nucleotide variant||C9orf72||9","4355619|NM_018325.5(C9orf72):c.502C>T (p.Gln168Ter)|single nucleotide variant||C9orf72||9","4355620|NM_018325.5(C9orf72):c.445-3C>T|single nucleotide variant||C9orf72||9","4355621|NM_018325.5(C9orf72):c.444+116T>G|single nucleotide variant||C9orf72||9","4355622|NM_018325.5(C9orf72):c.444+31T>G|single nucleotide variant||C9orf72||9","4355623|NM_018325.5(C9orf72):c.-45+168A>G|single nucleotide variant||C9orf72||9","4355624|NM_001256054.3(C9orf72):c.-45+110A>T|single nucleotide variant||C9orf72||9","912912|NM_018325.5(C9orf72):c.*1214T>C|single nucleotide variant|Likely benign|C9orf72|criteria provided, single submitter|9"]}]}