{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:1101,10,HGNC:1101,114,9]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:1101","source":"HGNC:1101|BRCA2 DNA repair associated","targets":["1012157|NM_000059.4(BRCA2):c.9163del (p.Leu3055fs)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1012158|NM_000059.4(BRCA2):c.5934del (p.Phe1978fs)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1012159|NM_000059.4(BRCA2):c.5566_5567inv (p.His1856Cys)|Inversion|Pathogenic|BRCA2|no assertion criteria provided|13","1012160|NM_000059.4(BRCA2):c.5362del (p.Ser1788fs)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1012161|NM_000059.4(BRCA2):c.5297del (p.Asn1766fs)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1012162|NM_000059.4(BRCA2):c.1561del (p.Ser521fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1012164|NM_000059.4(BRCA2):c.728del (p.Asn243fs)|Deletion|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1012165|NM_000059.4(BRCA2):c.691_692delinsGA (p.Ser231Asp)|Indel|Pathogenic|BRCA2|no assertion criteria provided|13","1012166|NM_000059.4(BRCA2):c.2588del (p.Asn863fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1012167|NM_000059.4(BRCA2):c.7177del (p.Lys2392_Met2393insTer)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1012168|NM_000059.4(BRCA2):c.10248del (p.Lys3416fs)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1012202|NM_000059.4(BRCA2):c.8423_8427delinsA (p.Leu2808fs)|Indel|Pathogenic|BRCA2|criteria provided, single submitter|13","1012203|NM_000059.4(BRCA2):c.8487+2T>G|single nucleotide variant|Pathogenic|BRCA2|criteria provided, single submitter|13","1012631|NM_000059.4(BRCA2):c.1490_1493del (p.Ser497fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1048907|NM_000059.4(BRCA2):c.68-2_316+1del|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1048937|NM_000059.4(BRCA2):c.517-2_631+1del|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1048980|NM_000059.4(BRCA2):c.4042del (p.Cys1348fs)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1049319|NM_000059.4(BRCA2):c.7436-2_7617+189del|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1049351|NM_000059.4(BRCA2):c.6808_6836del (p.Gly2270fs)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1049419|NM_000059.4(BRCA2):c.1859_1865del (p.Gln619_Phe620insTer)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1049456|NM_000059.4(BRCA2):c.8732del (p.Ala2911fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1049566|NM_000059.4(BRCA2):c.3119del (p.Thr1040fs)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1050075|NM_000059.4(BRCA2):c.8332-1_8487+146dup|Duplication|Pathogenic|BRCA2|no assertion criteria provided|13","1050270|NM_000059.4(BRCA2):c.8469_8475del (p.Gln2823fs)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1050378|NM_000059.4(BRCA2):c.8755-2_9023del|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1050481|NM_000059.4(BRCA2):c.6334A>T (p.Arg2112Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, single submitter|13","1050553|NM_000059.4(BRCA2):c.8827del (p.Gln2943fs)|Deletion|Pathogenic|BRCA2|no assertion criteria provided|13","1050639|NM_000059.4(BRCA2):c.5593dup (p.Ile1865fs)|Duplication|Pathogenic|BRCA2|no assertion criteria provided|13","1050735|NM_000059.4(BRCA2):c.7726G>T (p.Gly2576Ter)|single nucleotide variant|Pathogenic|BRCA2|no assertion criteria provided|13","1068327|NC_000013.10:g.(?_32944519)_(32944714_?)del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1068686|NM_000059.4(BRCA2):c.6751_6752del (p.His2251fs)|Microsatellite|Pathogenic|BRCA2|criteria provided, single submitter|13","1068819|NM_000059.4(BRCA2):c.3834_3835insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAATCAT (p.Asn1279fs)|Insertion|Pathogenic|BRCA2|criteria provided, single submitter|13","1068842|NM_000059.4(BRCA2):c.20del (p.Glu7fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1068843|NM_000059.4(BRCA2):c.1761_1762insTA (p.Asn588Ter)|Insertion|Pathogenic|BRCA2|criteria provided, single submitter|13","1068929|NM_000059.4(BRCA2):c.1403_1406del (p.Arg468fs)|Microsatellite|Pathogenic|BRCA2|criteria provided, single submitter|13","1068981|NM_000059.4(BRCA2):c.4026del (p.Ser1342fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1068982|NC_000013.11:g.32362524del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1069017|NM_000059.4(BRCA2):c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCTGGCTAGCACGGTGAAACCCCATCTCTACTAAAAATACAACAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCTGAACAT (p.Lys53delinsAlaGlyArgGlyGlySerArgLeuTer)|Insertion|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1069124|NM_000059.4(BRCA2):c.5409_5412del (p.Val1804fs)|Deletion|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1069421|NM_000059.4(BRCA2):c.859del (p.Met287fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1069551|NM_000059.4(BRCA2):c.9690_9696del (p.Leu3230fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1069760|NM_000059.4(BRCA2):c.6409_6410del (p.Asn2137fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1069813|NM_000059.4(BRCA2):c.2409T>A (p.Tyr803Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, single submitter|13","1070093|NM_000059.4(BRCA2):c.8857G>T (p.Glu2953Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1070128|NM_000059.4(BRCA2):c.3716_3717del (p.Lys1239fs)|Deletion|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1070258|NC_000013.10:g.(?_32930545)_(32937690_?)del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1070259|NC_000013.10:g.(?_32936640)_(32937690_?)del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1070260|NC_000013.10:g.(?_32890592)_(32929431_?)del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1070261|NC_000013.10:g.(?_32890592)_(32893468_?)del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1070316|NM_000059.4(BRCA2):c.1364del (p.Lys454_Ser455insTer)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1070329|NM_000059.4(BRCA2):c.8437G>T (p.Gly2813Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, single submitter|13","1070335|NM_000059.4(BRCA2):c.3472G>T (p.Glu1158Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1070336|NM_000059.4(BRCA2):c.7495del (p.Gln2499fs)|Deletion|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1070587|NM_000059.4(BRCA2):c.3352_3353del (p.Leu1118fs)|Deletion|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1070596|NM_000059.4(BRCA2):c.8266_8267dup (p.Glu2757fs)|Duplication|Pathogenic|BRCA2|criteria provided, single submitter|13","1070668|NM_000059.4(BRCA2):c.7126_7127del (p.Ala2376fs)|Deletion|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1071296|NM_000059.4(BRCA2):c.8829_8830insGATCCAGTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGGAACAAGGTTTATCAAGGGATGTAAGAAACAAGCTCAGNNNNNNNNNNNNNNAAAAAAAAAAAAA (p.Ile2944delinsAspProValGlyAsnTer)|Insertion|Pathogenic|BRCA2|criteria provided, single submitter|13","1071475|NM_000059.4(BRCA2):c.6284C>A (p.Ser2095Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1071629|NM_000059.4(BRCA2):c.3015del (p.Phe1005fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1071636|NM_000059.4(BRCA2):c.2535_2538dup (p.Arg847fs)|Duplication|Pathogenic|BRCA2|criteria provided, single submitter|13","1071638|NM_000059.4(BRCA2):c.8487+2T>A|single nucleotide variant|Pathogenic|BRCA2|criteria provided, single submitter|13","1071651|NM_000059.4(BRCA2):c.8517C>G (p.Tyr2839Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, single submitter|13","1071769|NM_000059.4(BRCA2):c.5622dup (p.Lys1875Ter)|Duplication|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1071770|NM_000059.4(BRCA2):c.8523del (p.Arg2842fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1071771|NM_000059.4(BRCA2):c.1850_1851delinsAG (p.Ser617Ter)|Indel|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1071841|NM_000059.4(BRCA2):c.7728_7732del (p.Lys2577fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1071938|NM_000059.4(BRCA2):c.8484dup (p.Gln2829fs)|Duplication|Pathogenic|BRCA2|criteria provided, single submitter|13","1072007|NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCTAAAAANNNNNNNNNNGTTGATTTTTTTTTTTTGCCTGAAACCCCCCACTCAACCACTCCTCGTGGTCCATAACCTGAAAACATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACACGCTGCA (p.Asn20delinsSerLeuGlnTer)|Insertion|Pathogenic|BRCA2|criteria provided, single submitter|13","1072034|NM_000059.4(BRCA2):c.4318A>T (p.Lys1440Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, single submitter|13","1072140|NM_000059.4(BRCA2):c.3824_3827dup (p.Glu1276fs)|Duplication|Pathogenic|BRCA2|criteria provided, single submitter|13","1072192|NM_000059.4(BRCA2):c.7542_7549dup (p.Thr2517fs)|Duplication|Pathogenic|BRCA2|criteria provided, single submitter|13","1072217|NC_000013.10:g.(?_32900630)_(32900756_?)del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1072218|NC_000013.10:g.(?_32903574)_(32903635_?)del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1072299|NM_000059.4(BRCA2):c.425+1del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1072364|NM_000059.4(BRCA2):c.724A>T (p.Lys242Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, single submitter|13","1072416|NM_000059.4(BRCA2):c.9252_9255del (p.Thr3085fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1072422|NM_000059.4(BRCA2):c.7956_7959dup (p.Leu2654fs)|Duplication|Pathogenic|BRCA2|criteria provided, single submitter|13","1072558|NM_000059.4(BRCA2):c.5007_5008insCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTCCNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Ala1670delinsArgGlyGlyGlyArgLeuTer)|Insertion|Pathogenic|BRCA2|criteria provided, single submitter|13","1072565|NM_000059.4(BRCA2):c.7018G>T (p.Glu2340Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, single submitter|13","1072625|NM_000059.4(BRCA2):c.3645dup (p.Phe1216fs)|Duplication|Pathogenic|BRCA2|criteria provided, single submitter|13","1072657|NM_000059.4(BRCA2):c.2809C>T (p.Gln937Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1072715|NM_000059.4(BRCA2):c.6267del (p.Glu2089fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1072723|NM_000059.4(BRCA2):c.7767del (p.Ser2590fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1072760|NM_000059.4(BRCA2):c.7055del (p.Pro2352fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1073052|NM_000059.4(BRCA2):c.6387del (p.Glu2129fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1073236|NM_000059.4(BRCA2):c.7768_7769dup (p.Asn2591fs)|Duplication|Pathogenic|BRCA2|criteria provided, single submitter|13","1073252|NM_000059.4(BRCA2):c.6920C>A (p.Ser2307Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, single submitter|13","1073487|NM_000059.4(BRCA2):c.9331_9335del (p.Glu3111fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1073562|NM_000059.4(BRCA2):c.5985del (p.Asn1995fs)|Deletion|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1073704|NM_000059.4(BRCA2):c.8960del (p.Leu2987fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1073722|NM_000059.4(BRCA2):c.4057G>T (p.Glu1353Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, single submitter|13","1073804|NM_000059.4(BRCA2):c.5225del (p.Asn1742fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1073855|NM_000059.4(BRCA2):c.5150_5226delinsTACTTAATACTTATTAAGTATTA (p.Glu1717_Asn1742delinsValLeuAsnThrTyrTer)|Indel|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1073939|NM_000059.4(BRCA2):c.5947G>T (p.Gly1983Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1073947|NC_000013.10:g.(?_32936842)_32938734del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|","1073948|NC_000013.10:g.(?_32890592)_(32890670_?)del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1073949|NC_000013.10:g.(?_32953881)_(32954056_?)del|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1074034|NM_000059.4(BRCA2):c.1851del (p.Ala618fs)|Deletion|Pathogenic|BRCA2|criteria provided, single submitter|13","1074040|NM_000059.4(BRCA2):c.5279dup (p.Gly1761fs)|Duplication|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13","1074058|NM_000059.4(BRCA2):c.5217T>G (p.Tyr1739Ter)|single nucleotide variant|Pathogenic|BRCA2|criteria provided, multiple submitters, no conflicts|13"]}]}