{"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:1100,10,HGNC:1100,111,6]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:1100","source":"HGNC:1100|BRCA1 DNA repair associated","targets":["1012155|NM_007294.4(BRCA1):c.1728del (p.Glu577fs)|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1012156|NM_007294.4(BRCA1):c.3982del (p.Ser1328fs)|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1027595|NC_000017.10:g.(?_41196311)_(41203135_41209068)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1027624|NC_000017.10:g.(41203135_41209068)_(41209153_41215349)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1048829|NM_007294.4(BRCA1):c.5075-390_5193+2del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1048853|NM_007294.4(BRCA1):c.302-167_441+3del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1048961|NM_007294.4(BRCA1):c.4485-10_4491del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049014|NM_007294.4(BRCA1):c.5194-42_5277+2del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049017|NM_007294.4(BRCA1):c.5407-73_5467+4del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049053|NM_007294.4(BRCA1):c.5296del (p.Ile1766fs)|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049103|NM_007294.4(BRCA1):c.5141_5144del (p.Val1714fs)|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049236|NC_000017.11:g.43045676_43045803del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049239|NM_007294.4(BRCA1):c.1100del (p.Thr367fs)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1049275|NM_007294.4(BRCA1):c.5280del (p.Phe1761fs)|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049277|NM_007294.4(BRCA1):c.3914dup (p.Asp1305fs)|Duplication|Pathogenic|BRCA1|no assertion criteria provided|17","1049380|NM_007294.4(BRCA1):c.81-1_134+2del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049514|NM_007294.4(BRCA1):c.2827A>T (p.Lys943Ter)|single nucleotide variant|Pathogenic|BRCA1|no assertion criteria provided|17","1049561|NM_007294.4(BRCA1):c.5153-77_5193+4del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049567|NM_007294.4(BRCA1):c.2_80+4del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049576|NM_007294.4(BRCA1):c.5194-1_5277+2del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049707|NM_007294.4(BRCA1):c.705_4185+4del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049719|NM_007294.4(BRCA1):c.851del (p.Gln284fs)|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049776|NM_007294.4(BRCA1):c.1603G>T (p.Gly535Ter)|single nucleotide variant|Pathogenic|BRCA1|no assertion criteria provided|17","1049828|NM_007294.4(BRCA1):c.1848_1861del (p.Thr617fs)|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049868|NM_007294.4(BRCA1):c.4358-1_4484+2del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049895|NM_007294.4(BRCA1):c.2365del (p.Ser789fs)|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1049912|NM_007294.4(BRCA1):c.5194-836_5277+3del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1050026|NM_007294.4(BRCA1):c.5194-119_5277+3del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1050145|NM_007294.4(BRCA1):c.66_67delinsTT (p.Leu22_Glu23delinsPheTer)|Indel|Pathogenic|BRCA1|criteria provided, single submitter|17","1050253|NM_007294.4(BRCA1):c.4987-1331_5152+2del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1050371|NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter)|single nucleotide variant|Pathogenic|BRCA1|criteria provided, single submitter|17","1050520|NM_007294.4(BRCA1):c.5468-191_*2del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1050671|NM_007294.4(BRCA1):c.3476del (p.Ile1159fs)|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1050717|NM_007294.4(BRCA1):c.442-1_547+2del|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1050776|NM_007294.4(BRCA1):c.3225_3226del (p.Asn1075fs)|Deletion|Pathogenic|BRCA1|no assertion criteria provided|17","1065138|NC_000017.10:g.(41197820_41199659)_(41199721_41201137)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1066372|NC_000017.10:g.(?_41258453)_(41258570_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1066373|NC_000017.10:g.(?_41219605)_(41228651_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1066374|NC_000017.10:g.(?_41228485)_(41258570_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1066580|NC_000017.10:g.(?_41234401)_(41249326_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1068565|NM_007294.4(BRCA1):c.2479_2480del (p.Glu827fs)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1068881|NC_000017.10:g.(?_41196977)_(41277500_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1068882|NC_000017.10:g.(?_41242941)_(41243069_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1068883|NC_000017.10:g.(?_41228485)_(41228651_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1068884|NC_000017.10:g.(?_41226328)_(41226558_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1068885|NC_000017.10:g.(?_41222925)_(41223340_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1068886|NC_000017.10:g.(?_41219605)_(41219732_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069116|NM_007294.4(BRCA1):c.4475_4476insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAGAACCAGG (p.Gly1492_Val1493insAlaGlyArgGlyGlySerArgLeuTer)|Insertion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069175|NC_000017.10:g.(?_41215330)_(41223340_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069176|NC_000017.10:g.(?_41215330)_(41219732_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069177|NC_000017.10:g.(?_41209048)_(41219732_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069178|NC_000017.10:g.(?_41215330)_(41215988_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069179|NC_000017.10:g.(?_41209048)_(41215988_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069180|NC_000017.10:g.(?_41197689)_(41209158_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069350|NC_000017.10:g.(?_41201118)_(41203154_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069351|NC_000017.10:g.(?_41199640)_(41203154_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069352|NC_000017.10:g.(?_41242941)_(41267816_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069353|NC_000017.10:g.(?_41222925)_(41267816_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1069423|NM_007294.4(BRCA1):c.1997_1998del (p.Leu666fs)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1070111|NM_007294.4(BRCA1):c.3975del (p.Arg1325fs)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1070603|NM_007294.4(BRCA1):c.2163del (p.Phe721fs)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1070907|NM_007294.4(BRCA1):c.5202dup (p.Glu1735Ter)|Duplication|Pathogenic|BRCA1|criteria provided, multiple submitters, no conflicts|17","1070948|NM_007294.4(BRCA1):c.4799del (p.Ala1599_Leu1600insTer)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1071122|NM_007294.4(BRCA1):c.3257_3258insTTGC (p.Leu1086fs)|Insertion|Pathogenic|BRCA1|criteria provided, multiple submitters, no conflicts|17","1071180|NC_000017.10:g.(?_41256865)_(41277500_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1071182|NC_000017.10:g.(?_41226328)_(41234612_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1071268|NM_007294.4(BRCA1):c.2145_2152del (p.Thr715_Ser716insTer)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1071282|NM_007294.4(BRCA1):c.3381T>A (p.Tyr1127Ter)|single nucleotide variant|Pathogenic|BRCA1|criteria provided, multiple submitters, no conflicts|17","1071390|NC_000017.10:g.(?_41226328)_(41258570_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1071391|NC_000017.10:g.(?_41215238)_(41258921_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1071926|NM_007294.4(BRCA1):c.4583_4589dup (p.Lys1530delinsAsnHisTer)|Duplication|Pathogenic|BRCA1|criteria provided, single submitter|17","1071944|NM_007294.4(BRCA1):c.4463_4467dup (p.Glu1490fs)|Duplication|Pathogenic|BRCA1|criteria provided, multiple submitters, no conflicts|17","1072656|NM_007294.4(BRCA1):c.2899dup (p.Thr967fs)|Duplication|Pathogenic|BRCA1|criteria provided, single submitter|17","1072718|NM_007294.4(BRCA1):c.292_293insT (p.Gly98fs)|Insertion|Pathogenic|BRCA1|criteria provided, single submitter|17","1072881|NM_007294.4(BRCA1):c.5027_5028insCTTTTTCTTTTTTTTCTTTTNNNNNNNNNNGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACCACATCACTTT (p.Leu1676delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleSerTer)|Insertion|Pathogenic|BRCA1|criteria provided, single submitter|17","1072912|NM_007294.4(BRCA1):c.4862_4863insG (p.Asp1621fs)|Insertion|Pathogenic|BRCA1|criteria provided, single submitter|17","1072983|NC_000017.10:g.(?_41234401)_(41277500_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1072984|NC_000017.10:g.(?_41276015)_41277500del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|","1073077|NC_000017.10:g.(?_41215330)_(41234612_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1073078|NC_000017.10:g.(?_41209048)_(41228651_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1073079|NC_000017.10:g.(?_41222925)_(41226558_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1073080|NC_000017.10:g.(?_41219605)_(41223340_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1073201|NM_007294.4(BRCA1):c.133_134+1del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1073249|NM_007294.4(BRCA1):c.4513del (p.Asp1505fs)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1073297|NC_000017.10:g.(?_41256129)_(41258568_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1073298|NC_000017.10:g.(?_41234401)_(41251921_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1073299|NC_000017.10:g.(?_41197637)_(41251921_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1073300|NC_000017.10:g.(?_41249241)_(41251921_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1073509|NM_007294.4(BRCA1):c.671-8_671-2del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1073669|NM_007294.4(BRCA1):c.3679del (p.Gln1227fs)|Deletion|Pathogenic|BRCA1|criteria provided, multiple submitters, no conflicts|17","1073703|NM_007294.4(BRCA1):c.1099del (p.Thr367fs)|Deletion|Pathogenic|BRCA1|criteria provided, multiple submitters, no conflicts|17","1074343|NM_007294.4(BRCA1):c.1423_1508del (p.Ser475fs)|Deletion|Pathogenic|BRCA1|criteria provided, multiple submitters, no conflicts|17","1074407|NM_007294.4(BRCA1):c.2635del (p.Glu879fs)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1074646|NM_007294.4(BRCA1):c.1709del (p.Pro570fs)|Deletion|Pathogenic|BRCA1|criteria provided, multiple submitters, no conflicts|17","1074684|NM_007294.4(BRCA1):c.1009G>T (p.Glu337Ter)|single nucleotide variant|Pathogenic|BRCA1|criteria provided, single submitter|17","1074746|NM_007294.4(BRCA1):c.2735_2738del (p.Lys912fs)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1074750|NM_007294.4(BRCA1):c.1682del (p.Ser561fs)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1074789|NM_007294.4(BRCA1):c.4544_4545dup (p.Ser1516fs)|Duplication|Pathogenic|BRCA1|criteria provided, single submitter|17","1075200|NM_007294.4(BRCA1):c.959_981del (p.Arg320fs)|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17","1075231|NC_000017.10:g.(?_41242955)_(41276119_?)del|Deletion|Pathogenic|BRCA1|criteria provided, single submitter|17"]}]}