{"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:795,10,HGNC:795,181,8]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:795","source":"HGNC:795|ATM serine/threonine kinase","targets":["1027442|NM_000051.4(ATM):c.2152dup (p.Cys718fs)|Duplication|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1049940|NM_000051.4(ATM):c.3403-1_3577-680del|Deletion|Pathogenic|ATM|no assertion criteria provided|11","1050010|NM_000051.4(ATM):c.4674_4695del (p.Ile1559fs)|Deletion|Pathogenic|ATM|no assertion criteria provided|11","1062106|NM_000051.4(ATM):c.5217_5231del (p.Asn1739_Thr1743del)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1067957|NM_000051.4(ATM):c.1802+1G>T|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1068534|NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1068555|NM_000051.4(ATM):c.3216del (p.Val1073fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1068579|NM_000051.4(ATM):c.8785A>T (p.Arg2929Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1068697|NM_000051.4(ATM):c.1276del (p.Ser426fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1068740|NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTT (p.Leu312fs)|Microsatellite|Pathogenic|ATM|criteria provided, single submitter|11","1068798|NM_000051.4(ATM):c.6080T>G (p.Leu2027Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1068838|NM_000051.4(ATM):c.6295del (p.His2099fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069119|NM_000051.4(ATM):c.3105_3106del (p.Phe1036fs)|Microsatellite|Pathogenic|ATM|criteria provided, single submitter|11","1069197|NM_000051.4(ATM):c.1179G>A (p.Trp393Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1069441|NM_000051.4(ATM):c.1262C>G (p.Ser421Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1069467|NM_000051.4(ATM):c.3076del (p.Trp1026fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069556|NC_000011.9:g.(?_108178614)_(108178721_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069557|NC_000011.9:g.(?_108190675)_(108190791_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069558|NC_000011.9:g.(?_108196027)_(108196281_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069559|NC_000011.9:g.(?_108204603)_(108204705_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069594|NM_000051.4(ATM):c.6616C>T (p.Gln2206Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1069643|NM_000051.4(ATM):c.1966del (p.Thr656fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069650|NM_000051.4(ATM):c.3145_3146del (p.Leu1049fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1069663|NM_000051.4(ATM):c.5737_5743del (p.Val1913fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069668|NC_000011.9:g.(?_108151710)_(108160538_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069669|NC_000011.9:g.(?_108153427)_(108160538_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069814|NM_000051.4(ATM):c.2626C>T (p.Gln876Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1069824|NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1069826|NC_000011.9:g.(?_108213939)_(108218102_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069827|NC_000011.9:g.(?_108213939)_(108236235_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069828|NC_000011.9:g.(?_108114670)_(108164214_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069829|NC_000011.9:g.(?_108114660)_(108236235_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1069873|NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTT (p.Ile311_Leu312insPhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaSerAlaArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaLeu)|Microsatellite|Pathogenic|ATM|criteria provided, single submitter|11","1069949|NM_000051.4(ATM):c.3716_3717insTCCTTTTATTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCT (p.Leu1239delinsPheProPheIleLeuPhePhePhePhePhePheXaaXaaXaaXaaSerAsnPheIleHisValProThrLysAspMetAsnSerSerPhePheMetAlaAlaTer)|Insertion|Pathogenic|ATM|criteria provided, single submitter|11","1069974|NM_000051.4(ATM):c.1635dup (p.Leu546fs)|Duplication|Pathogenic|ATM|criteria provided, single submitter|11","1069988|NM_000051.4(ATM):c.7113T>G (p.Tyr2371Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1070072|NM_000051.4(ATM):c.8923del (p.Glu2975fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1070130|NM_000051.4(ATM):c.6661G>T (p.Glu2221Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1070223|NM_000051.4(ATM):c.2601_2602dup (p.Asp868fs)|Duplication|Pathogenic|ATM|criteria provided, single submitter|11","1070349|NM_000051.4(ATM):c.5805_5812del (p.Asp1935fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1070531|NM_000051.4(ATM):c.3964dup (p.Leu1322fs)|Duplication|Pathogenic|ATM|criteria provided, single submitter|11","1070576|NM_000051.4(ATM):c.1078del (p.Asp360fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1070606|NM_000051.4(ATM):c.5383_5384del (p.Trp1795fs)|Microsatellite|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1070646|NM_000051.4(ATM):c.3285-2_3285-1insAAAAAAAAAAAAAAAAAAAAAAAA|Insertion|Pathogenic|ATM|criteria provided, single submitter|11","1070998|NM_000051.4(ATM):c.8239A>T (p.Lys2747Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1071141|NM_000051.4(ATM):c.3523del (p.Ala1175fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1071401|NM_000051.4(ATM):c.4910-362_4960delinsCCACAGTGTTGGATAAC|Indel|Pathogenic|ATM|criteria provided, single submitter|11","1071446|NM_000051.4(ATM):c.4028_4034del (p.Ile1343fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1071453|NM_000051.4(ATM):c.8797A>T (p.Lys2933Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1071597|NM_000051.4(ATM):c.3527del (p.Leu1176fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1071617|NM_000051.4(ATM):c.4493_4494insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTTCTGTTGTGACTTATT (p.Leu1498delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuValArgTer)|Microsatellite|Pathogenic|ATM|criteria provided, single submitter|11","1071640|NM_000051.4(ATM):c.6370dup (p.Tyr2124fs)|Duplication|Pathogenic|ATM|criteria provided, single submitter|11","1071666|NM_000051.4(ATM):c.2044_2057del (p.Val682fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1071690|NC_000011.9:g.(?_108093770)_(108100060_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1071691|NC_000011.9:g.(?_108093770)_(108114855_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1071692|NC_000011.9:g.(?_108124486)_(108225611_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1071816|NM_000051.4(ATM):c.856C>T (p.Gln286Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1071958|NC_000011.9:g.(?_108093770)_108128343del|Deletion|Pathogenic|ATM|criteria provided, single submitter|","1072054|NM_000051.4(ATM):c.3188dup (p.Met1064fs)|Duplication|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1072130|NM_000051.4(ATM):c.769G>T (p.Glu257Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1072187|NM_000051.4(ATM):c.6706del (p.Glu2236fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1072259|NM_000051.4(ATM):c.2426del (p.Thr808_Ser809insTer)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1072260|NM_000051.4(ATM):c.7760_7761insCAATAACTAAAAATGT (p.Val2587_Pro2588insAsnAsnTer)|Insertion|Pathogenic|ATM|criteria provided, single submitter|11","1072369|NM_000051.4(ATM):c.2962A>T (p.Lys988Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1072467|NM_000051.4(ATM):c.4133del (p.Pro1378fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1072478|NM_000051.4(ATM):c.4555del (p.Val1519fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1072669|NM_000051.4(ATM):c.5657del (p.Pro1886fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1072739|NM_000051.4(ATM):c.4093del (p.Leu1365fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1072740|NM_000051.4(ATM):c.7705del (p.Asp2569fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1072795|NM_000051.4(ATM):c.8663del (p.Ile2888fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1072943|NM_000051.4(ATM):c.7953del (p.Gln2651fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1072996|NC_000011.9:g.108163403_108163404insLINE|Insertion|Pathogenic|ATM|criteria provided, single submitter|11","1073215|NM_000051.4(ATM):c.1037_1040del (p.Ile346fs)|Microsatellite|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1073216|NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1073317|NM_000051.4(ATM):c.4222_4236+5del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1073340|NC_000011.10:g.108271077_108271078insTTTTTTTTTTTTTTTTTTGANNNNNNNNNNTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTATCTAATGCTTTT|Insertion|Pathogenic|ATM|criteria provided, single submitter|11","1073355|NM_000051.4(ATM):c.8413dup (p.Met2805fs)|Duplication|Pathogenic|ATM|criteria provided, single submitter|11","1073406|NM_000051.4(ATM):c.5959del (p.Ser1987fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1073457|NM_000051.4(ATM):c.2464_2466+2del|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1073522|NM_000051.4(ATM):c.607del (p.Asp203fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1073590|NC_000011.9:g.(?_108141781)_(108158452_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1073591|NC_000011.9:g.(?_108098342)_(108098625_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1073592|NC_000011.9:g.(?_108098352)_(108100060_?)del|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1073822|NC_000011.9:g.(?_108235810)_108237715del|Deletion|Pathogenic|ATM|criteria provided, single submitter|","1073937|NM_000051.4(ATM):c.1614_1645del (p.Val539fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1074091|NM_000051.4(ATM):c.5677_5680del (p.Glu1894fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1074095|NM_000051.4(ATM):c.6468_6472dup (p.Met2158fs)|Duplication|Pathogenic|ATM|criteria provided, single submitter|11","1074203|NM_000051.4(ATM):c.7670del (p.Leu2557fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1074241|NM_000051.4(ATM):c.7125del (p.Ser2375fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1074382|NM_000051.4(ATM):c.2972del (p.Ile990_Leu991insTer)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1074411|NM_000051.4(ATM):c.3461T>A (p.Leu1154Ter)|single nucleotide variant|Pathogenic|ATM|criteria provided, single submitter|11","1074412|NM_000051.4(ATM):c.900dup (p.Gly301fs)|Duplication|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1074638|NM_000051.4(ATM):c.8690del (p.Gly2897fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1074651|NM_000051.4(ATM):c.1695del (p.Glu565_Val566insTer)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1074652|NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs)|Microsatellite|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1074776|NM_000051.4(ATM):c.2032del (p.Ile678fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1074850|NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1074976|NM_000051.4(ATM):c.728dup (p.Leu243fs)|Duplication|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11","1075029|NM_000051.4(ATM):c.3203_3204del (p.Phe1068fs)|Deletion|Pathogenic|ATM|criteria provided, single submitter|11","1075035|NM_000051.4(ATM):c.1762del (p.Asp588fs)|Deletion|Pathogenic|ATM|criteria provided, multiple submitters, no conflicts|11"]}]}