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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


156 records found for search term Dnajb11
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405293498CV3192674single nucleotide variantNM_016306.6(DNAJB11):c.-6G>ADNAJB11-related disorder [RCV003931883]likely benign3186570892186570892Humanname , trait , alternate_id
150509015CV1284429single nucleotide variantNM_016306.6(DNAJB11):c.-122A>Gnot provided [RCV001720537]benign3186570776186570776Humanname
405280561CV3195571single nucleotide variantNM_016306.6(DNAJB11):c.69-7T>GDNAJB11-related disorder [RCV003906815]likely benign3186572088186572088Humanname , trait , alternate_id
127261803CV1087422single nucleotide variantNM_016306.6(DNAJB11):c.456+3A>GPolycystic kidney disease 6 with or without polycystic liver disease [RCV001420677]uncertain significance3186577803186577803Human1name
150449156CV1273596single nucleotide variantNM_016306.6(DNAJB11):c.68+56G>Anot provided [RCV001691696]benign3186571021186571021Humanname
151347899CV1319038single nucleotide variantNM_016306.6(DNAJB11):c.600-2A>CEnlarged kidney [RCV001807677]likely pathogenic3186581993186581993Human2name
152148862CV1552005single nucleotide variantNM_016306.6(DNAJB11):c.683-8C>GDNAJB11-related disorder [RCV003913767]|not provided [RCV002157860]benign3186582708186582708Human1name , trait , alternate_id
152077378CV1612954single nucleotide variantNM_016306.6(DNAJB11):c.226-3C>Tnot provided [RCV002075914]|not specified [RCV003151388]benign3186575837186575837Humanname
153348838CV1692883single nucleotide variantNM_016306.6(DNAJB11):c.457-3T>Gnot provided [RCV002274739]uncertain significance3186581368186581368Humanname
156352266CV2065911single nucleotide variantNM_016306.6(DNAJB11):c.852+4A>Gnot provided [RCV002811871]uncertain significance3186583980186583980Humanname
404998109CV2849996single nucleotide variantNM_016306.6(DNAJB11):c.600-7A>GPolycystic kidney disease 6 with or without polycystic liver disease [RCV003492992]uncertain significance3186581988186581988Human1name
402483125CV2921917single nucleotide variantNM_016306.6(DNAJB11):c.69-15C>Tnot provided [RCV003572276]likely benign3186572080186572080Humanname
408366419CV3509259single nucleotide variantNM_016306.6(DNAJB11):c.324-8A>CDNAJB11-related disorder [RCV004756653]likely benign3186577660186577660Humanname , trait , alternate_id
408393331CV3526074single nucleotide variantNM_016306.6(DNAJB11):c.324-1G>TPolycystic kidney disease 6 with or without polycystic liver disease [RCV004768452]likely pathogenic3186577667186577667Human1name
597944495CV3847895single nucleotide variantNM_016306.6(DNAJB11):c.741-4T>Cnot provided [RCV005188624]likely benign3186583861186583861Humanname
597908726CV3853747single nucleotide variantNM_016306.6(DNAJB11):c.456+2T>Anot provided [RCV005203230]likely pathogenic3186577802186577802Humanname
150477823CV1218684single nucleotide variantNM_016306.6(DNAJB11):c.226-49T>Cnot provided [RCV001616311]benign3186575791186575791Humanname
150478257CV1218756single nucleotide variantNM_016306.6(DNAJB11):c.682+39T>Cnot provided [RCV001616383]benign3186582116186582116Humanname
150483150CV1223542single nucleotide variantNM_016306.6(DNAJB11):c.457-53G>Anot provided [RCV001617256]benign3186581318186581318Humanname
150515181CV1228757single nucleotide variantNM_016306.6(DNAJB11):c.323+93T>Cnot provided [RCV001638746]benign3186576030186576030Humanname
150507752CV1229167single nucleotide variantNM_016306.6(DNAJB11):c.1012+5G>Anot provided [RCV001636038]benign3186584594186584594Humanname
150473227CV1234242single nucleotide variantNM_016306.6(DNAJB11):c.226-41A>Gnot provided [RCV001651561]benign3186575799186575799Humanname
150498655CV1235602single nucleotide variantNM_016306.6(DNAJB11):c.852+75T>Gnot provided [RCV001656285]benign3186584051186584051Humanname
150493306CV1238643duplicationNM_016306.6(DNAJB11):c.324-27dupPolycystic kidney disease 6 with or without polycystic liver disease [RCV002225139]|not provided [RCV001655187]benign3186577628186577629Human1name
150440621CV1246602deletionNM_016306.6(DNAJB11):c.324-27delnot provided [RCV001666255]benign3186577629186577629Humanname
150500973CV1256202single nucleotide variantNM_016306.6(DNAJB11):c.323+94T>Gnot provided [RCV001676826]benign3186576031186576031Humanname
150462868CV1263722single nucleotide variantNM_016306.6(DNAJB11):c.69-211T>Gnot provided [RCV001682423]benign3186571884186571884Humanname
150491041CV1267712single nucleotide variantNM_016306.6(DNAJB11):c.852+20C>Tnot provided [RCV001687736]benign3186583996186583996Humanname
152071410CV1544271single nucleotide variantNM_016306.6(DNAJB11):c.323+19T>Cnot provided [RCV002129663]benign3186575956186575956Humanname
405080863CV3137206single nucleotide variantNM_016306.6(DNAJB11):c.853-11T>Gnot provided [RCV003834105]likely benign3186584419186584419Humanname
404989477CV3179976single nucleotide variantNM_016306.6(DNAJB11):c.682+18G>Cnot provided [RCV003881454]benign3186582095186582095Humanname
402495018CV3182951single nucleotide variantNM_016306.6(DNAJB11):c.323+16A>Gnot provided [RCV003877259]benign3186575953186575953Humanname
405718656CV3227713single nucleotide variantNM_016306.6(DNAJB11):c.226-17C>GPolycystic kidney disease 6 with or without polycystic liver disease [RCV003992054]uncertain significance3186575823186575823Human1name
597852784CV3743434single nucleotide variantNM_016306.6(DNAJB11):c.683-20C>Tnot provided [RCV005060784]likely benign3186582696186582696Humanname
597859441CV3755969single nucleotide variantNM_016306.6(DNAJB11):c.853-12T>Gnot provided [RCV005089120]likely benign3186584418186584418Humanname
150506496CV1212221single nucleotide variantNM_016306.6(DNAJB11):c.225+171A>Cnot provided [RCV001596052]benign3186572422186572422Humanname
150516973CV1227412single nucleotide variantNM_016306.6(DNAJB11):c.323+164T>Cnot provided [RCV001639513]benign3186576101186576101Humanname
150433235CV1230456single nucleotide variantNM_016306.6(DNAJB11):c.741-177G>Anot provided [RCV001643401]benign3186583688186583688Humanname
150467031CV1240509single nucleotide variantNM_016306.6(DNAJB11):c.1012+46A>Gnot provided [RCV001650270]benign3186584635186584635Humanname
150502436CV1241253single nucleotide variantNM_016306.6(DNAJB11):c.225+173G>Cnot provided [RCV001657149]benign3186572424186572424Humanname
150469804CV1247882single nucleotide variantNM_016306.6(DNAJB11):c.740+121G>Tnot provided [RCV001670918]benign3186582894186582894Humanname
150436753CV1273572single nucleotide variantNM_016306.6(DNAJB11):c.225+115G>Anot provided [RCV001689559]benign3186572366186572366Humanname
150451151CV1276556single nucleotide variantNM_016306.6(DNAJB11):c.600-170G>Anot provided [RCV001708345]benign3186581825186581825Humanname
152054336CV1633034single nucleotide variantNM_016306.6(DNAJB11):c.1012+14G>Tnot provided [RCV002127590]benign3186584603186584603Humanname
597875862CV3747817single nucleotide variantNM_016306.6(DNAJB11):c.1012+16G>Tnot provided [RCV005069308]likely benign3186584605186584605Humanname
597875853CV3747816microsatelliteNM_016306.6(DNAJB11):c.1012+14GT[9]not provided [RCV005069307]likely benign3186584603186584604Humanname
152161501CV1531139microsatelliteNM_016306.6(DNAJB11):c.1012+14GT[16]not provided [RCV002123281]likely benign3186584602186584603Humanname
152168705CV1545506microsatelliteNM_016306.6(DNAJB11):c.1012+14GT[13]not provided [RCV002142538]likely benign3186584602186584603Humanname
152094628CV1617475microsatelliteNM_016306.6(DNAJB11):c.1012+14GT[17]not provided [RCV002114540]likely benign3186584602186584603Humanname
152110693CV1617737microsatelliteNM_016306.6(DNAJB11):c.1012+14GT[15]not provided [RCV002116505]likely benign3186584602186584603Humanname
152036072CV1648428microsatelliteNM_016306.6(DNAJB11):c.1012+14GT[14]not provided [RCV002125344]likely benign3186584602186584603Humanname
156329983CV1954022microsatelliteNM_016306.6(DNAJB11):c.1012+14GT[12]not provided [RCV002579943]likely benign3186584602186584603Humanname
404984862CV3183626microsatelliteNM_016306.6(DNAJB11):c.1012+14GT[18]not provided [RCV003880903]likely benign3186584602186584603Humanname
597905375CV3853113deletionNM_016306.6(DNAJB11):c.600-10_600-3delnot provided [RCV005202770]likely benign3186581982186581989Humanname
151779724CV1467694single nucleotide variantNM_016306.6(DNAJB11):c.42A>G (p.Leu14=)not provided [RCV001971968]likely benign|uncertain significance3186570939186570939Humanname
156442037CV1941703single nucleotide variantNM_016306.6(DNAJB11):c.60G>A (p.Val20=)not provided [RCV003112374]uncertain significance3186570957186570957Humanname
156449651CV1941920single nucleotide variantNM_016306.6(DNAJB11):c.39G>A (p.Leu13=)not provided [RCV003121777]likely benign3186570936186570936Humanname
405279213CV3206178single nucleotide variantNM_016306.6(DNAJB11):c.51C>T (p.Ile17=)DNAJB11-related disorder [RCV003954897]likely benign3186570948186570948Humanname , trait , alternate_id
405283094CV3216987microsatelliteNM_016306.6(DNAJB11):c.1013-7_1013-4delDNAJB11-related disorder [RCV003979135]likely benign3186585332186585335Humanname , trait , alternate_id
597854608CV3825102single nucleotide variantNM_016306.6(DNAJB11):c.45C>T (p.Tyr15=)not provided [RCV005173950]likely benign3186570942186570942Humanname
151869377CV1413615single nucleotide variantNM_016306.6(DNAJB11):c.27T>A (p.Phe9Leu)not provided [RCV002018739]uncertain significance3186570924186570924Humanname
156105200CV1917170single nucleotide variantNM_016306.6(DNAJB11):c.267T>C (p.Tyr89=)not provided [RCV002592424]likely benign3186575881186575881Humanname
156080336CV2198458single nucleotide variantNM_016306.6(DNAJB11):c.23C>T (p.Thr8Ile)Inborn genetic diseases [RCV002660752]uncertain significance3186570920186570920Human1name
402506861CV2884431single nucleotide variantNM_016306.6(DNAJB11):c.258C>T (p.Tyr86=)not provided [RCV003546314]likely benign3186575872186575872Humanname
127286204CV1161793single nucleotide variantNM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter)Polycystic kidney disease [RCV004017844]|Renal cyst [RCV001526624]pathogenic3186572096186572096Human4name
150430925CV1243525deletionNM_016306.6(DNAJB11):c.225+108_225+110delnot provided [RCV001663144]benign3186572357186572359Humanname
401737524CV2718127single nucleotide variantNM_016306.6(DNAJB11):c.98C>T (p.Pro33Leu)Inborn genetic diseases [RCV003273445]uncertain significance3186572124186572124Human1name
405214340CV2879703single nucleotide variantNM_016306.6(DNAJB11):c.381T>C (p.Asn127=)not provided [RCV003553021]likely benign3186577725186577725Humanname
405272527CV3210067single nucleotide variantNM_016306.6(DNAJB11):c.579C>T (p.Cys193=)DNAJB11-related disorder [RCV003914317]likely benign3186581493186581493Humanname , trait , alternate_id
405265888CV3215772single nucleotide variantNM_016306.6(DNAJB11):c.582C>T (p.Asp194=)DNAJB11-related disorder [RCV003946928]|not provided [RCV005064846]likely benign3186581496186581496Human1name , trait , alternate_id
597955144CV3809411single nucleotide variantNM_016306.6(DNAJB11):c.624G>T (p.Leu208=)not provided [RCV005162135]likely benign3186582019186582019Humanname
597911175CV3816895single nucleotide variantNM_016306.6(DNAJB11):c.549G>T (p.Gly183=)not provided [RCV005154292]likely benign3186581463186581463Humanname
151827693CV1400592single nucleotide variantNM_016306.6(DNAJB11):c.130G>T (p.Ala44Ser)not provided [RCV001976334]uncertain significance3186572156186572156Humanname
155799202CV1862399single nucleotide variantNM_016306.6(DNAJB11):c.151C>T (p.Gln51Ter)Polycystic kidney disease 6 with or without polycystic liver disease [RCV002471805]pathogenic3186572177186572177Human1name
155938649CV2054755single nucleotide variantNM_016306.6(DNAJB11):c.186A>C (p.Gln62His)not provided [RCV002815540]uncertain significance3186572212186572212Humanname
156299350CV2104848single nucleotide variantNM_016306.6(DNAJB11):c.100C>T (p.Arg34Ter)not provided [RCV002922499]pathogenic3186572126186572126Humanname
156198078CV2357796single nucleotide variantNM_016306.6(DNAJB11):c.114A>G (p.Ile38Met)Inborn genetic diseases [RCV002985031]uncertain significance3186572140186572140Human1name
402477027CV2857286single nucleotide variantNM_016306.6(DNAJB11):c.218C>T (p.Ala73Val)not provided [RCV003543454]uncertain significance3186572244186572244Humanname
402525372CV2868534single nucleotide variantNM_016306.6(DNAJB11):c.1059T>C (p.Asn353=)not provided [RCV003548068]benign3186585390186585390Humanname
405854615CV3392483duplicationNM_016306.6(DNAJB11):c.266dup (p.Tyr89Ter)Autosomal dominant polycystic kidney disease [RCV004527505]likely pathogenic3186575879186575880Human1name
407572853CV3497063single nucleotide variantNM_016306.6(DNAJB11):c.163G>A (p.Asp55Asn)Polycystic kidney disease 6 with or without polycystic liver disease [RCV004698931]uncertain significance3186572189186572189Human1name
408377130CV3501504single nucleotide variantNM_016306.6(DNAJB11):c.258C>G (p.Tyr86Ter)Polycystic kidney disease 6 with or without polycystic liver disease [RCV004727581]pathogenic3186575872186575872Human1name
597897819CV3744578single nucleotide variantNM_016306.6(DNAJB11):c.101G>A (p.Arg34Gln)not provided [RCV005071856]uncertain significance3186572127186572127Humanname
598163042CV3953427single nucleotide variantNM_016306.6(DNAJB11):c.191A>G (p.Gln64Arg)Inborn genetic diseases [RCV005329294]uncertain significance3186572217186572217Human1name
616938779CV4015834deletionNM_016306.6(DNAJB11):c.532del (p.Thr178fs)Polycystic kidney disease 6 with or without polycystic liver disease [RCV005414386]likely pathogenic3186581446186581446Human1name
13706755CV540572single nucleotide variantNM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg)Polycystic kidney disease 6 with or without polycystic liver disease [RCV000664417]pathogenic|likely pathogenic3186572187186572187Human1name
13706758CV540574deletionNM_016306.6(DNAJB11):c.479del (p.Ala160fs)Polycystic kidney disease 6 with or without polycystic liver disease [RCV000664419]pathogenic3186581393186581393Human1name
13706759CV540575single nucleotide variantNM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro)Polycystic kidney disease 6 with or without polycystic liver disease [RCV000664420]pathogenic|likely pathogenic3186575844186575844Human1name
38463020CV961141deletionNM_016306.6(DNAJB11):c.400del (p.Ile134fs)not provided [RCV001249105]likely pathogenic3186577744186577744Humanname
150478066CV1240131single nucleotide variantNM_016306.6(DNAJB11):c.790A>G (p.Ile264Val)not provided [RCV001652309]benign3186583914186583914Humanname
150551618CV1297471single nucleotide variantNM_016306.6(DNAJB11):c.865C>T (p.Arg289Trp)Inborn genetic diseases [RCV003264080]|not provided [RCV001767155]uncertain significance3186584442186584442Human1name
151845171CV1359696single nucleotide variantNM_016306.6(DNAJB11):c.364C>T (p.Arg122Cys)not provided [RCV002032303]uncertain significance3186577708186577708Humanname
151761346CV1400577insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTnot provided [RCV002007900]likely benign|uncertain significance3186584602186584603Humanname
151751296CV1457314single nucleotide variantNM_016306.6(DNAJB11):c.748A>G (p.Ile250Val)Inborn genetic diseases [RCV002555287]|not provided [RCV001913012]likely benign|uncertain significance3186583872186583872Human1name
151799776CV1509397single nucleotide variantNM_016306.6(DNAJB11):c.359C>A (p.Thr120Asn)not provided [RCV001867022]uncertain significance3186577703186577703Humanname
152098373CV1542413single nucleotide variantNM_016306.6(DNAJB11):c.923A>G (p.Asn308Ser)DNAJB11-related disorder [RCV003968778]|not provided [RCV002195220]likely benign3186584500186584500Human1name , trait , alternate_id
152114305CV1574807single nucleotide variantNM_016306.6(DNAJB11):c.768T>A (p.Asp256Glu)DNAJB11-related disorder [RCV003978635]|not provided [RCV002116978]likely benign3186583892186583892Human1name , trait , alternate_id
156406058CV2004582single nucleotide variantNM_016306.6(DNAJB11):c.866G>A (p.Arg289Gln)not provided [RCV002658461]uncertain significance3186584443186584443Humanname
156271706CV2018359single nucleotide variantNM_016306.6(DNAJB11):c.468C>G (p.Asn156Lys)not provided [RCV002715003]uncertain significance3186581382186581382Humanname
156016598CV2044103single nucleotide variantNM_016306.6(DNAJB11):c.895C>G (p.Leu299Val)not provided [RCV002795378]uncertain significance3186584472186584472Humanname
155966106CV2216599single nucleotide variantNM_016306.6(DNAJB11):c.693C>G (p.His231Gln)Inborn genetic diseases [RCV002687080]uncertain significance3186582726186582726Human1name
156299732CV2248692single nucleotide variantNM_016306.6(DNAJB11):c.583G>C (p.Glu195Gln)Inborn genetic diseases [RCV002807996]uncertain significance3186581497186581497Human1name
156070230CV2267151single nucleotide variantNM_016306.6(DNAJB11):c.724C>T (p.Arg242Ter)Inborn genetic diseases [RCV002823406]pathogenic3186582757186582757Human1name
155903440CV2274878single nucleotide variantNM_016306.6(DNAJB11):c.380A>G (p.Asn127Ser)Inborn genetic diseases [RCV002836847]uncertain significance3186577724186577724Human1name
243057951CV2412213single nucleotide variantNM_016306.6(DNAJB11):c.452T>G (p.Val151Gly)Polycystic kidney disease 6 with or without polycystic liver disease [RCV003146755]uncertain significance3186577796186577796Human1name
329354580CV2448442single nucleotide variantNM_016306.6(DNAJB11):c.487G>T (p.Ala163Ser)Inborn genetic diseases [RCV003202352]uncertain significance3186581401186581401Human1name
401734483CV2690599single nucleotide variantNM_016306.6(DNAJB11):c.527G>A (p.Arg176Gln)Inborn genetic diseases [RCV003249499]uncertain significance3186581441186581441Human1name
401722718CV2703477single nucleotide variantNM_016306.6(DNAJB11):c.395G>A (p.Ser132Asn)Inborn genetic diseases [RCV003268110]uncertain significance3186577739186577739Human1name
401933674CV2799428single nucleotide variantNM_016306.6(DNAJB11):c.935A>G (p.Asn312Ser)DNAJB11-related disorder [RCV003410524]uncertain significance3186584512186584512Humanname , trait , alternate_id
401961563CV2843883single nucleotide variantNM_016306.6(DNAJB11):c.682G>T (p.Gly228Cys)not provided [RCV003481722]uncertain significance3186582077186582077Humanname
402489321CV2995706single nucleotide variantNM_016306.6(DNAJB11):c.873G>C (p.Lys291Asn)not provided [RCV003687378]uncertain significance3186584450186584450Humanname
405235009CV3040764single nucleotide variantNM_016306.6(DNAJB11):c.705G>T (p.Glu235Asp)not provided [RCV003712182]uncertain significance3186582738186582738Humanname
405205867CV3068270single nucleotide variantNM_016306.6(DNAJB11):c.835C>T (p.His279Tyr)not provided [RCV003731300]uncertain significance3186583959186583959Humanname
405264908CV3201396single nucleotide variantNM_016306.6(DNAJB11):c.407T>C (p.Val136Ala)DNAJB11-related disorder [RCV003897154]uncertain significance3186577751186577751Humanname , trait , alternate_id
405279278CV3206256single nucleotide variantNM_016306.6(DNAJB11):c.685G>A (p.Glu229Lys)DNAJB11-related disorder [RCV003954916]uncertain significance3186582718186582718Humanname , trait , alternate_id
405731365CV3244535single nucleotide variantNM_016306.6(DNAJB11):c.440C>T (p.Ala147Val)Inborn genetic diseases [RCV004379264]uncertain significance3186577784186577784Human1name
405731373CV3244536single nucleotide variantNM_016306.6(DNAJB11):c.476T>C (p.Val159Ala)Inborn genetic diseases [RCV004379265]uncertain significance3186581390186581390Human1name
408366873CV3517557single nucleotide variantNM_016306.6(DNAJB11):c.656G>C (p.Gly219Ala)DNAJB11-related disorder [RCV004757059]uncertain significance3186582051186582051Humanname , trait , alternate_id
597648881CV3662884single nucleotide variantNM_016306.6(DNAJB11):c.620C>T (p.Thr207Met)Inborn genetic diseases [RCV004974311]likely benign3186582015186582015Human1name
597648887CV3662885single nucleotide variantNM_016306.6(DNAJB11):c.940A>G (p.Ile314Val)Inborn genetic diseases [RCV004974312]uncertain significance3186584517186584517Human1name
597941308CV3769153single nucleotide variantNM_016306.6(DNAJB11):c.961A>C (p.Thr321Pro)not provided [RCV005118648]uncertain significance3186584538186584538Humanname
597972635CV3823446single nucleotide variantNM_016306.6(DNAJB11):c.970G>A (p.Val324Met)not provided [RCV005167542]uncertain significance3186584547186584547Humanname
597971397CV3833013single nucleotide variantNM_016306.6(DNAJB11):c.725G>A (p.Arg242Gln)not provided [RCV005166910]uncertain significance3186582758186582758Humanname
597887880CV3839128single nucleotide variantNM_016306.6(DNAJB11):c.890C>T (p.Ala297Val)not provided [RCV005179213]uncertain significance3186584467186584467Humanname
617153187CV4016565single nucleotide variantNM_016306.6(DNAJB11):c.776A>G (p.Tyr259Cys)Polycystic kidney disease 6 with or without polycystic liver disease [RCV005415528]uncertain significance3186583900186583900Human1name
13706760CV540576single nucleotide variantNM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter)Polycystic kidney disease 6 with or without polycystic liver disease [RCV000664421]|not provided [RCV001249131]pathogenic3186582011186582011Human1name
38463324CV961142single nucleotide variantNM_016306.6(DNAJB11):c.430G>T (p.Glu144Ter)not provided [RCV001249159]likely pathogenic3186577774186577774Humanname
40904641CV975663single nucleotide variantNM_016306.6(DNAJB11):c.800T>C (p.Val267Ala)DNAJB11-related disorder [RCV004731115]|Polycystic kidney disease 6 with or without polycystic liver disease [RCV001268943]uncertain significance3186583924186583924Human1name , trait , alternate_id
41407632CV980320single nucleotide variantNM_016306.6(DNAJB11):c.743A>T (p.His248Leu)Polycystic kidney disease 6 with or without polycystic liver disease [RCV001280867]uncertain significance3186583867186583867Human1name
156019703CV1882197single nucleotide variantNM_016306.6(DNAJB11):c.1021C>T (p.Gln341Ter)DNAJB11-related disorder [RCV004756463]|not provided [RCV003077557]uncertain significance3186585352186585352Human1name , trait , alternate_id
401733390CV2691288single nucleotide variantNM_016306.6(DNAJB11):c.1019A>G (p.Lys340Arg)Inborn genetic diseases [RCV003290462]uncertain significance3186585350186585350Human1name
405034967CV2923426single nucleotide variantNM_016306.6(DNAJB11):c.1037G>C (p.Gly346Ala)not provided [RCV003578625]uncertain significance3186585368186585368Humanname
597648873CV3662882single nucleotide variantNM_016306.6(DNAJB11):c.1042G>C (p.Val348Leu)Inborn genetic diseases [RCV004974309]uncertain significance3186585373186585373Human1name
156142587CV1959778insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTnot provided [RCV002572624]likely benign3186584602186584603Humanname
405853932CV3395343deletionNM_016306.6(DNAJB11):c.635_636del (p.Ile212fs)Polycystic kidney disease 6 with or without polycystic liver disease [RCV004555480]likely pathogenic3186582029186582030Human1name
405867789CV3396475deletionNM_016306.6(DNAJB11):c.544_550del (p.Pro182fs)Polycystic kidney disease 6 with or without polycystic liver disease [RCV004560345]likely pathogenic3186581452186581458Human1name
596927410CV3536688deletionNM_016306.6(DNAJB11):c.537_543del (p.Gln179fs)Polycystic kidney disease 6 with or without polycystic liver disease [RCV004790098]pathogenic3186581451186581457Human1name
597960592CV3794696deletionNM_016306.6(DNAJB11):c.781_782del (p.Asn261fs)not provided [RCV005138601]pathogenic3186583904186583905Humanname
152162746CV1648031insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTnot provided [RCV002123497]likely benign3186584602186584603Humanname
13706756CV540573insertionNM_016306.6(DNAJB11):c.166_167insTT (p.Arg56fs)Polycystic kidney disease 6 with or without polycystic liver disease [RCV000664418]pathogenic3186572192186572193Human1name
152149745CV1545445insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTnot provided [RCV002121574]likely benign3186584602186584603Humanname
152035123CV1584813insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTnot provided [RCV002125204]likely benign3186584602186584603Humanname
152161509CV1531140insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTGTnot provided [RCV002123282]likely benign3186584602186584603Humanname
152067177CV1557188insertionNM_016306.6(DNAJB11):c.1012+15_1012+16insATGTGTGTGTGTnot provided [RCV002191317]likely benign3186584602186584603Humanname
152074198CV1615605insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTGTGTnot provided [RCV002092002]likely benign3186584602186584603Humanname
155903184CV2043748insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTGTGTGTnot provided [RCV002771101]uncertain significance3186584602186584603Humanname
408377128CV3501499microsatelliteNM_016306.6(DNAJB11):c.763_767del (p.Arg254_Gly255insTer)Polycystic kidney disease 6 with or without polycystic liver disease [RCV004727580]likely pathogenic3186583881186583885Humanname
152035584CV1648107insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTnot provided [RCV002125267]likely benign3186584602186584603Humanname
156225817CV2144497insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTTTGTGTGTGTGTGTGTnot provided [RCV003007555]likely benign3186584602186584603Humanname
152161643CV1584539insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTnot provided [RCV002123306]likely benign3186584602186584603Humanname
152162656CV1584910insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTnot provided [RCV002123483]likely benign3186584602186584603Humanname
152035108CV1584810insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGTnot provided [RCV002125202]likely benign3186584602186584603Humanname
155954655CV2043943insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGTGTnot provided [RCV002775957]likely benign|uncertain significance3186584602186584603Humanname
156220630CV2037673insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGTGTGTnot provided [RCV002790614]likely benign3186584602186584603Humanname
405183063CV3124028insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTnot provided [RCV003820224]likely benign3186584602186584603Humanname
156351560CV2069671insertionNM_016306.6(DNAJB11):c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTnot provided [RCV002811826]likely benign3186584602186584603Humanname