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


355 records found for search term Rnf168
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
151822664CV1418913single nucleotide variantNM_152617.4(RNF168):c.378+5G>Anot provided [RCV001954914]uncertain significance3196488602196488602Humanname
151804831CV1432442single nucleotide variantNM_152617.4(RNF168):c.302-3T>Cnot provided [RCV001991281]uncertain significance3196488686196488686Humanname
151881329CV1499847single nucleotide variantNM_152617.4(RNF168):c.379-5T>Cnot provided [RCV001886523]likely benign|uncertain significance3196487583196487583Humanname
152088839CV1655767single nucleotide variantNM_152617.4(RNF168):c.559-4G>Anot provided [RCV002194026]likely benign3196483895196483895Humanname
156184161CV1898356single nucleotide variantNM_152617.4(RNF168):c.378+8C>Tnot provided [RCV002595160]likely benign3196488599196488599Humanname
156153893CV2023194single nucleotide variantNM_152617.4(RNF168):c.681-8T>Anot provided [RCV002741310]likely benign3196475320196475320Humanname
156023367CV2184747single nucleotide variantNM_152617.4(RNF168):c.558+9T>Gnot provided [RCV003035841]likely benign3196487390196487390Humanname
404998651CV3008899single nucleotide variantNM_152617.4(RNF168):c.558+1G>Tnot provided [RCV003692958]likely pathogenic3196487398196487398Humanname
405201507CV3143511single nucleotide variantNM_152617.4(RNF168):c.559-7G>Anot provided [RCV003844497]likely benign3196483898196483898Humanname
405245671CV3161853single nucleotide variantNM_152617.4(RNF168):c.302-8T>Cnot provided [RCV003868566]likely benign3196488691196488691Humanname
405250989CV3180783single nucleotide variantNM_152617.4(RNF168):c.763-4A>Tnot provided [RCV003870060]likely benign3196472776196472776Humanname
405291696CV3205898single nucleotide variantNM_152617.4(RNF168):c.378+9T>CRNF168-related disorder [RCV003964013]|not provided [RCV005064886]likely benign3196488598196488598Human1name , trait , alternate_id
597968793CV3761213single nucleotide variantNM_152617.4(RNF168):c.558+1G>Anot provided [RCV005083600]likely pathogenic3196487398196487398Humanname
597883244CV3834150deletionNM_152617.4(RNF168):c.559-5delnot provided [RCV005178469]likely benign3196483896196483896Humanname
597883251CV3834151single nucleotide variantNM_152617.4(RNF168):c.559-8T>Gnot provided [RCV005178470]likely benign3196483899196483899Humanname
15132146CV787280single nucleotide variantNM_152617.4(RNF168):c.681-9T>Cnot provided [RCV000981332]likely benign3196475321196475321Humanname
151235310CV1318579single nucleotide variantNM_152617.4(RNF168):c.559-46A>GRIDDLE syndrome [RCV001794907]|not provided [RCV004716824]benign3196483937196483937Human1name
151235311CV1318580deletionNM_152617.4(RNF168):c.378+26delRIDDLE syndrome [RCV001794908]benign3196488581196488581Human1name
151765074CV1418679single nucleotide variantNM_152617.4(RNF168):c.762+18A>Gnot provided [RCV001928964]likely benign|uncertain significance3196475213196475213Humanname
151776687CV1424420single nucleotide variantNM_152617.4(RNF168):c.559-20T>Anot provided [RCV002025875]uncertain significance3196483911196483911Humanname
152046150CV1525805single nucleotide variantNM_152617.4(RNF168):c.378+14A>Cnot provided [RCV002126667]likely benign3196488593196488593Humanname
152082488CV1548460single nucleotide variantNM_152617.4(RNF168):c.681-19T>Gnot provided [RCV002076556]benign3196475331196475331Humanname
152119397CV1587636single nucleotide variantNM_152617.4(RNF168):c.559-13T>Cnot provided [RCV002081343]likely benign3196483904196483904Humanname
152117897CV1594820single nucleotide variantNM_152617.4(RNF168):c.559-10A>Gnot provided [RCV002197646]likely benign3196483901196483901Humanname
152086443CV1608365single nucleotide variantNM_152617.4(RNF168):c.558+18A>Gnot provided [RCV002212105]likely benign3196487381196487381Humanname
152094858CV1617597single nucleotide variantNM_152617.4(RNF168):c.763-18T>Cnot provided [RCV002114569]likely benign3196472790196472790Humanname
152131246CV1631096single nucleotide variantNM_152617.4(RNF168):c.301+17G>Anot provided [RCV002119116]likely benign3196502856196502856Humanname
152040764CV1649257single nucleotide variantNM_152617.4(RNF168):c.379-14T>Gnot provided [RCV002206310]benign3196487592196487592Humanname
152172783CV1652709single nucleotide variantNM_152617.4(RNF168):c.558+11G>Anot provided [RCV002143892]likely benign3196487388196487388Humanname
152124622CV1665700single nucleotide variantNM_152617.4(RNF168):c.558+19C>Tnot provided [RCV002198513]likely benign3196487380196487380Humanname
156394098CV1984319single nucleotide variantNM_152617.4(RNF168):c.378+11A>Gnot provided [RCV002635288]likely benign3196488596196488596Humanname
156379530CV1997726single nucleotide variantNM_152617.4(RNF168):c.378+16T>Cnot provided [RCV002653562]likely benign3196488591196488591Humanname
156285611CV2012759single nucleotide variantNM_152617.4(RNF168):c.763-11G>Cnot provided [RCV002715449]likely benign3196472783196472783Humanname
156128734CV2084733single nucleotide variantNM_152617.4(RNF168):c.558+17A>Cnot provided [RCV002871552]likely benign3196487382196487382Humanname
156402308CV2191509single nucleotide variantNM_152617.4(RNF168):c.763-15T>Cnot provided [RCV003052424]likely benign3196472787196472787Humanname
405204252CV2986283single nucleotide variantNM_152617.4(RNF168):c.378+19T>Cnot provided [RCV003678505]likely benign3196488588196488588Humanname
405130750CV3010947single nucleotide variantNM_152617.4(RNF168):c.680+13G>Anot provided [RCV003701622]likely benign3196483757196483757Humanname
405177800CV3020006single nucleotide variantNM_152617.4(RNF168):c.379-14T>Cnot provided [RCV003705178]likely benign3196487592196487592Humanname
405133032CV3115203single nucleotide variantNM_152617.4(RNF168):c.763-18T>Anot provided [RCV003816048]likely benign3196472790196472790Humanname
597915882CV3740771single nucleotide variantNM_152617.4(RNF168):c.302-17T>Cnot provided [RCV005074108]likely benign3196488700196488700Humanname
597962187CV3809103single nucleotide variantNM_152617.4(RNF168):c.302-19C>Anot provided [RCV005164005]likely benign3196488702196488702Humanname
597876669CV3825670single nucleotide variantNM_152617.4(RNF168):c.379-16A>Tnot provided [RCV005177544]likely benign3196487594196487594Humanname
156022828CV2043273microsatelliteNM_152617.4(RNF168):c.559-1_560delRIDDLE syndrome [RCV003147787]|not provided [RCV002780736]likely pathogenic3196483890196483892Humanname
152136071CV1587762deletionNM_152617.4(RNF168):c.301+7_301+20delnot provided [RCV002083517]likely benign3196502853196502866Humanname
156337555CV1988439single nucleotide variantNM_152617.4(RNF168):c.27C>T (p.Pro9=)not provided [RCV002631264]likely benign3196503147196503147Humanname
152078297CV1663791single nucleotide variantNM_152617.4(RNF168):c.54C>T (p.Ile18=)not provided [RCV002076031]likely benign3196503120196503120Humanname
156446716CV1948070single nucleotide variantNM_152617.4(RNF168):c.90G>A (p.Pro30=)not provided [RCV003118230]likely benign3196503084196503084Humanname
156096779CV1980996duplicationNM_152617.4(RNF168):c.302-19_302-15dupnot provided [RCV002622064]likely benign3196488697196488698Humanname
156159202CV1984318deletionNM_152617.4(RNF168):c.378+12_378+16delnot provided [RCV002642341]likely benign3196488591196488595Humanname
405048864CV2886834single nucleotide variantNM_152617.4(RNF168):c.54C>A (p.Ile18=)not provided [RCV003579645]likely benign3196503120196503120Humanname
405120434CV3116499single nucleotide variantNM_152617.4(RNF168):c.31C>T (p.Leu11=)not provided [RCV003814800]likely benign3196503143196503143Humanname
405196655CV3138734deletionNM_152617.4(RNF168):c.378+11_378+14delnot provided [RCV003821550]likely benign3196488593196488596Humanname
597907030CV3738858single nucleotide variantNM_152617.4(RNF168):c.87C>T (p.Leu29=)not provided [RCV005073093]likely benign3196503087196503087Humanname
127240900CV1070639single nucleotide variantNM_152617.4(RNF168):c.159C>T (p.Phe53=)not provided [RCV001393004]likely benign3196503015196503015Humanname
151885137CV1364314single nucleotide variantNM_152617.4(RNF168):c.129C>T (p.Thr43=)not provided [RCV002037694]likely benign3196503045196503045Humanname
151880838CV1421603single nucleotide variantNM_152617.4(RNF168):c.19G>A (p.Ala7Thr)not provided [RCV001886456]uncertain significance3196503155196503155Humanname
151791643CV1509506single nucleotide variantNM_152617.4(RNF168):c.19G>T (p.Ala7Ser)Inborn genetic diseases [RCV003264133]|not provided [RCV001876570]uncertain significance3196503155196503155Human1name
152168337CV1547970single nucleotide variantNM_152617.4(RNF168):c.120C>T (p.Phe40=)not provided [RCV002161095]likely benign3196503054196503054Humanname
152123491CV1570591single nucleotide variantNM_152617.4(RNF168):c.168C>A (p.Arg56=)not provided [RCV002217093]likely benign3196503006196503006Humanname
152091763CV1602915single nucleotide variantNM_152617.4(RNF168):c.258G>A (p.Arg86=)not provided [RCV002194392]likely benign3196502916196502916Humanname
152070306CV1628351single nucleotide variantNM_152617.4(RNF168):c.156C>T (p.Pro52=)not provided [RCV002169204]likely benign3196503018196503018Humanname
156267272CV1973918single nucleotide variantNM_152617.4(RNF168):c.180G>A (p.Ser60=)not provided [RCV002597974]likely benign3196502994196502994Humanname
405224863CV3042024single nucleotide variantNM_152617.4(RNF168):c.141G>A (p.Ala47=)not provided [RCV003710519]likely benign3196503033196503033Humanname
405247604CV3159051single nucleotide variantNM_152617.4(RNF168):c.180G>C (p.Ser60=)not provided [RCV003869196]likely benign3196502994196502994Humanname
405162457CV3160094single nucleotide variantNM_152617.4(RNF168):c.117C>T (p.Cys39=)not provided [RCV003857165]likely benign3196503057196503057Humanname
597916720CV3737373single nucleotide variantNM_152617.4(RNF168):c.22A>G (p.Ile8Val)not provided [RCV005074162]uncertain significance3196503152196503152Humanname
597844251CV3752589single nucleotide variantNM_152617.4(RNF168):c.267G>A (p.Lys89=)not provided [RCV005086995]likely benign3196502907196502907Humanname
597954686CV3754100single nucleotide variantNM_152617.4(RNF168):c.279T>G (p.Ser93=)not provided [RCV005080143]likely benign3196502895196502895Humanname
597943776CV3765896single nucleotide variantNM_152617.4(RNF168):c.276G>T (p.Ala92=)not provided [RCV005119274]likely benign3196502898196502898Humanname
597923949CV3808579single nucleotide variantNM_152617.4(RNF168):c.171G>A (p.Arg57=)not provided [RCV005156093]likely benign3196503003196503003Humanname
597849828CV3824495single nucleotide variantNM_152617.4(RNF168):c.126G>A (p.Ser42=)not provided [RCV005173534]likely benign3196503048196503048Humanname
597866056CV3834408single nucleotide variantNM_152617.4(RNF168):c.256A>C (p.Arg86=)not provided [RCV005175775]likely benign3196502918196502918Humanname
597924156CV3863059single nucleotide variantNM_152617.4(RNF168):c.213C>T (p.Leu71=)not provided [RCV005205547]likely benign3196502961196502961Humanname
151842815CV1379748single nucleotide variantNM_152617.4(RNF168):c.89C>T (p.Pro30Leu)not provided [RCV001936322]uncertain significance3196503085196503085Humanname
152047168CV1519722single nucleotide variantNM_152617.4(RNF168):c.792A>G (p.Pro264=)RNF168-related disorder [RCV003903442]|not provided [RCV002145215]likely benign3196472743196472743Human1name , trait , alternate_id
152175127CV1520688single nucleotide variantNM_152617.4(RNF168):c.684T>C (p.Tyr228=)not provided [RCV002184743]likely benign3196475309196475309Humanname
152050550CV1533183single nucleotide variantNM_152617.4(RNF168):c.990C>T (p.His330=)not provided [RCV002166822]likely benign3196472545196472545Humanname
152092554CV1593157single nucleotide variantNM_152617.4(RNF168):c.627C>G (p.Pro209=)not provided [RCV002094390]likely benign3196483823196483823Humanname
152087518CV1594714single nucleotide variantNM_152617.4(RNF168):c.384G>A (p.Ala128=)not provided [RCV002113606]likely benign3196487573196487573Humanname
152169673CV1632547single nucleotide variantNM_152617.4(RNF168):c.918C>T (p.Ala306=)not provided [RCV002142864]likely benign3196472617196472617Humanname
152108671CV1643610single nucleotide variantNM_152617.4(RNF168):c.333T>C (p.Ser111=)not provided [RCV002096542]likely benign3196488652196488652Humanname
156043803CV1914726single nucleotide variantNM_152617.4(RNF168):c.585G>A (p.Ser195=)not provided [RCV002620361]uncertain significance3196483865196483865Humanname
156142623CV1959779single nucleotide variantNM_152617.4(RNF168):c.693G>A (p.Pro231=)not provided [RCV002572625]likely benign3196475300196475300Humanname
156129269CV1966135single nucleotide variantNM_152617.4(RNF168):c.99C>G (p.His33Gln)not provided [RCV002593432]uncertain significance3196503075196503075Humanname
156379117CV1968257single nucleotide variantNM_152617.4(RNF168):c.381G>A (p.Val127=)not provided [RCV002603835]likely benign3196487576196487576Humanname
156378545CV2001324single nucleotide variantNM_152617.4(RNF168):c.501G>A (p.Ala167=)not provided [RCV002653487]likely benign3196487456196487456Humanname
155978375CV2028561single nucleotide variantNM_152617.4(RNF168):c.429A>G (p.Glu143=)not provided [RCV002755208]likely benign3196487528196487528Humanname
156374495CV2123963single nucleotide variantNM_152617.4(RNF168):c.708G>T (p.Gly236=)not provided [RCV002942594]likely benign3196475285196475285Humanname
405138854CV2903581single nucleotide variantNM_152617.4(RNF168):c.726A>G (p.Glu242=)not provided [RCV003560681]likely benign3196475267196475267Humanname
402480942CV2911052single nucleotide variantNM_152617.4(RNF168):c.777T>C (p.Ser259=)not provided [RCV003572071]likely benign3196472758196472758Humanname
405214643CV2971406single nucleotide variantNM_152617.4(RNF168):c.927C>T (p.Tyr309=)not provided [RCV003679778]likely benign3196472608196472608Humanname
405029734CV3129926single nucleotide variantNM_152617.4(RNF168):c.975A>G (p.Leu325=)not provided [RCV003830524]likely benign3196472560196472560Humanname
405234284CV3155487single nucleotide variantNM_152617.4(RNF168):c.720C>T (p.His240=)not provided [RCV003853465]likely benign3196475273196475273Humanname
405698048CV3313102single nucleotide variantNM_152617.4(RNF168):c.44A>G (p.Gln15Arg)Inborn genetic diseases [RCV004446478]uncertain significance3196503130196503130Human1name
405697665CV3313104single nucleotide variantNM_152617.4(RNF168):c.67C>T (p.Leu23Phe)Inborn genetic diseases [RCV004446480]uncertain significance3196503107196503107Human1name
405697498CV3313105single nucleotide variantNM_152617.4(RNF168):c.73G>A (p.Glu25Lys)Inborn genetic diseases [RCV004446481]uncertain significance3196503101196503101Human1name
405697399CV3313106single nucleotide variantNM_152617.4(RNF168):c.74A>G (p.Glu25Gly)Inborn genetic diseases [RCV004446482]uncertain significance3196503100196503100Human1name
597873316CV3747313single nucleotide variantNM_152617.4(RNF168):c.543G>A (p.Lys181=)not provided [RCV005068997]likely benign3196487414196487414Humanname
597831328CV3750890single nucleotide variantNM_152617.4(RNF168):c.624A>C (p.Thr208=)not provided [RCV005084634]likely benign3196483826196483826Humanname
597945263CV3812899single nucleotide variantNM_152617.4(RNF168):c.79G>A (p.Val27Ile)not provided [RCV005159912]uncertain significance3196503095196503095Humanname
597869733CV3858481single nucleotide variantNM_152617.4(RNF168):c.537A>G (p.Ala179=)not provided [RCV005197224]likely benign3196487420196487420Humanname
15164892CV708757single nucleotide variantNM_152617.4(RNF168):c.972G>A (p.Glu324=)RIDDLE syndrome [RCV001285508]|not provided [RCV000970830]benign3196472563196472563Human1name
15151658CV720367single nucleotide variantNM_152617.4(RNF168):c.864A>G (p.Gln288=)not provided [RCV000879643]benign3196472671196472671Humanname
15171872CV720368single nucleotide variantNM_152617.4(RNF168):c.402C>T (p.Ser134=)not provided [RCV000883732]likely benign3196487555196487555Humanname
15140614CV733987single nucleotide variantNM_152617.4(RNF168):c.732A>G (p.Val244=)not provided [RCV000899349]likely benign3196475261196475261Humanname
15161577CV748167single nucleotide variantNM_152617.4(RNF168):c.825G>A (p.Pro275=)not provided [RCV000925713]likely benign3196472710196472710Humanname
15135459CV748168single nucleotide variantNM_152617.4(RNF168):c.690A>C (p.Thr230=)RNF168-related disorder [RCV003960390]|not provided [RCV000920854]likely benign3196475303196475303Human1name , trait , alternate_id
126748719CV1004652single nucleotide variantNM_152617.4(RNF168):c.209C>T (p.Ser70Phe)not provided [RCV001326393]uncertain significance3196502965196502965Humanname
127319737CV1134741single nucleotide variantNM_152617.4(RNF168):c.1431C>T (p.Arg477=)not provided [RCV001504147]likely benign3196472104196472104Humanname
151811238CV1345280single nucleotide variantNM_152617.4(RNF168):c.127A>G (p.Thr43Ala)not provided [RCV001878290]uncertain significance3196503047196503047Humanname
151709883CV1361071single nucleotide variantNM_152617.4(RNF168):c.150C>G (p.Cys50Trp)not provided [RCV001889146]uncertain significance3196503024196503024Humanname
151802226CV1366062single nucleotide variantNM_152617.4(RNF168):c.188G>A (p.Arg63Gln)not provided [RCV001917817]uncertain significance3196502986196502986Humanname
151882728CV1383902single nucleotide variantNM_152617.4(RNF168):c.280G>A (p.Gly94Ser)not provided [RCV001886788]uncertain significance3196502894196502894Humanname
151788911CV1403416single nucleotide variantNM_152617.4(RNF168):c.244A>G (p.Lys82Glu)Inborn genetic diseases [RCV002557869]|not provided [RCV001916621]uncertain significance3196502930196502930Human1name
151869130CV1415789deletionNM_152617.4(RNF168):c.644del (p.Ser215fs)not provided [RCV001884914]pathogenic3196483806196483806Humanname
151837681CV1417080single nucleotide variantNM_152617.4(RNF168):c.260A>G (p.Glu87Gly)not provided [RCV002014969]uncertain significance3196502914196502914Humanname
151771846CV1417806single nucleotide variantNM_152617.4(RNF168):c.106T>A (p.Cys36Ser)not provided [RCV001874528]uncertain significance3196503068196503068Humanname
151726599CV1445671single nucleotide variantNM_152617.4(RNF168):c.274G>C (p.Ala92Pro)not provided [RCV002040758]uncertain significance3196502900196502900Humanname
151862391CV1457993single nucleotide variantNM_152617.4(RNF168):c.209C>G (p.Ser70Cys)not provided [RCV001938722]uncertain significance3196502965196502965Humanname
151865538CV1477528duplicationNM_152617.4(RNF168):c.975dup (p.Cys326fs)not provided [RCV001939114]pathogenic|uncertain significance3196472559196472560Humanname
8555654CV15526duplicationNM_152617.4(RNF168):c.397dup (p.Ala133fs)RIDDLE syndrome [RCV000000516]pathogenic3196487559196487560Human1name
152040956CV1561986single nucleotide variantNM_152617.4(RNF168):c.1338C>T (p.Asp446=)not provided [RCV002188252]likely benign3196472197196472197Humanname
152173872CV1568644single nucleotide variantNM_152617.4(RNF168):c.1065C>T (p.Cys355=)not provided [RCV002184321]likely benign3196472470196472470Humanname
152170618CV1578280single nucleotide variantNM_152617.4(RNF168):c.1701G>A (p.Gln567=)not provided [RCV002183216]likely benign3196471834196471834Humanname
152154715CV1579523single nucleotide variantNM_152617.4(RNF168):c.1128G>A (p.Glu376=)RNF168-related disorder [RCV003923801]|not provided [RCV002158698]likely benign3196472407196472407Human1name , trait , alternate_id
152160979CV1598824single nucleotide variantNM_152617.4(RNF168):c.1539C>G (p.Gly513=)not provided [RCV002140915]likely benign3196471996196471996Humanname
152085544CV1599228single nucleotide variantNM_152617.4(RNF168):c.1014C>G (p.Pro338=)not provided [RCV002093428]likely benign3196472521196472521Humanname
152146275CV1615301single nucleotide variantNM_152617.4(RNF168):c.1236C>T (p.Pro412=)not provided [RCV002101524]likely benign3196472299196472299Humanname
152054826CV1648596single nucleotide variantNM_152617.4(RNF168):c.1017C>T (p.Tyr339=)not provided [RCV002072802]likely benign3196472518196472518Humanname
156183159CV1884765single nucleotide variantNM_152617.4(RNF168):c.220G>C (p.Val74Leu)Inborn genetic diseases [RCV003061215]|not provided [RCV003083628]likely benign|uncertain significance3196502954196502954Human1name
156413706CV1901052single nucleotide variantNM_152617.4(RNF168):c.1359T>C (p.Leu453=)not provided [RCV002588244]likely benign3196472176196472176Humanname
156129245CV1966134single nucleotide variantNM_152617.4(RNF168):c.110A>T (p.Lys37Ile)not provided [RCV002593431]uncertain significance3196503064196503064Humanname
156397044CV1985287single nucleotide variantNM_152617.4(RNF168):c.172G>T (p.Val58Leu)not provided [RCV002635590]uncertain significance3196503002196503002Humanname
155920822CV1991264single nucleotide variantNM_152617.4(RNF168):c.1596T>C (p.Asn532=)not provided [RCV002614554]likely benign3196471939196471939Humanname
156110419CV1996983single nucleotide variantNM_152617.4(RNF168):c.1239A>G (p.Glu413=)not provided [RCV002662466]likely benign3196472296196472296Humanname
155990092CV2066760deletionNM_152617.4(RNF168):c.510del (p.Glu170fs)not provided [RCV002842922]pathogenic3196487447196487447Humanname
156005256CV2099697single nucleotide variantNM_152617.4(RNF168):c.1401A>G (p.Gln467=)not provided [RCV002908826]likely benign3196472134196472134Humanname
156025709CV2106110single nucleotide variantNM_152617.4(RNF168):c.235A>G (p.Ile79Val)not provided [RCV002923279]uncertain significance3196502939196502939Humanname
156001913CV2106812single nucleotide variantNM_152617.4(RNF168):c.1650T>A (p.Ala550=)not provided [RCV002947830]likely benign3196471885196471885Humanname
156200929CV2110044single nucleotide variantNM_152617.4(RNF168):c.1455A>G (p.Lys485=)not provided [RCV002957376]likely benign|uncertain significance3196472080196472080Humanname
156217142CV2111045single nucleotide variantNM_152617.4(RNF168):c.1149G>A (p.Lys383=)not provided [RCV002932307]likely benign3196472386196472386Humanname
156190993CV2149894single nucleotide variantNM_152617.4(RNF168):c.1659A>G (p.Leu553=)not provided [RCV003006002]likely benign3196471876196471876Humanname
155918539CV2152607single nucleotide variantNM_152617.4(RNF168):c.125C>T (p.Ser42Leu)not provided [RCV002991784]uncertain significance3196503049196503049Humanname
156238556CV2154575single nucleotide variantNM_152617.4(RNF168):c.1398G>T (p.Arg466=)not provided [RCV003025919]likely benign3196472137196472137Humanname
156165757CV2184707single nucleotide variantNM_152617.4(RNF168):c.223G>A (p.Glu75Lys)not provided [RCV003057064]uncertain significance3196502951196502951Humanname
156339198CV2188396single nucleotide variantNM_152617.4(RNF168):c.199C>G (p.Arg67Gly)not provided [RCV003064138]uncertain significance3196502975196502975Humanname
156159458CV2262574single nucleotide variantNM_152617.4(RNF168):c.275C>T (p.Ala92Val)Inborn genetic diseases [RCV002827281]uncertain significance3196502899196502899Human1name
329402265CV2454107single nucleotide variantNM_152617.4(RNF168):c.278C>G (p.Ser93Cys)Inborn genetic diseases [RCV003199172]uncertain significance3196502896196502896Human1name
401742491CV2697790single nucleotide variantNM_152617.4(RNF168):c.262T>C (p.Cys88Arg)Inborn genetic diseases [RCV003274843]uncertain significance3196502912196502912Human1name
401898484CV2787763single nucleotide variantNM_152617.4(RNF168):c.148T>C (p.Cys50Arg)Inborn genetic diseases [RCV003376528]uncertain significance3196503026196503026Human1name
405146821CV2881496single nucleotide variantNM_152617.4(RNF168):c.1356A>G (p.Gln452=)not provided [RCV003561398]likely benign3196472179196472179Humanname
405122512CV2884934single nucleotide variantNM_152617.4(RNF168):c.1233C>T (p.Ser411=)not provided [RCV003559220]likely benign3196472302196472302Humanname
405227544CV2888899deletionNM_152617.4(RNF168):c.560del (p.Asn187fs)not provided [RCV003554828]pathogenic3196483890196483890Humanname
405219094CV2903836single nucleotide variantNM_152617.4(RNF168):c.1404A>G (p.Lys468=)not provided [RCV003568139]likely benign3196472131196472131Humanname
405188939CV2917985single nucleotide variantNM_152617.4(RNF168):c.1707C>T (p.Cys569=)not provided [RCV003564725]likely benign3196471828196471828Humanname
405233880CV2975547single nucleotide variantNM_152617.4(RNF168):c.1347G>A (p.Leu449=)not provided [RCV003682708]likely benign3196472188196472188Humanname
405240669CV2993695single nucleotide variantNM_152617.4(RNF168):c.1014C>T (p.Pro338=)not provided [RCV003719050]likely benign3196472521196472521Humanname
405245946CV3162173single nucleotide variantNM_152617.4(RNF168):c.1548C>T (p.Asp516=)not provided [RCV003868692]likely benign3196471987196471987Humanname
405127672CV3163169single nucleotide variantNM_152617.4(RNF168):c.1668C>T (p.Ser556=)not provided [RCV003854350]likely benign3196471867196471867Humanname
405214622CV3169928single nucleotide variantNM_152617.4(RNF168):c.1305A>G (p.Leu435=)not provided [RCV003862532]likely benign3196472230196472230Humanname
402471987CV3171675single nucleotide variantNM_152617.4(RNF168):c.1341G>A (p.Arg447=)not provided [RCV003874459]likely benign3196472194196472194Humanname
405291507CV3205738single nucleotide variantNM_152617.4(RNF168):c.1020G>A (p.Ser340=)RNF168-related disorder [RCV003963876]|not provided [RCV005102999]likely benign3196472515196472515Human1name , trait , alternate_id
405698057CV3313100single nucleotide variantNM_152617.4(RNF168):c.258G>T (p.Arg86Ser)Inborn genetic diseases [RCV004446476]uncertain significance3196502916196502916Human1name
407486237CV3479629single nucleotide variantNM_152617.4(RNF168):c.197C>T (p.Thr66Ile)Inborn genetic diseases [RCV004665429]uncertain significance3196502977196502977Human1name
597718748CV3590244single nucleotide variantNM_152617.4(RNF168):c.253C>T (p.Pro85Ser)Inborn genetic diseases [RCV004960183]uncertain significance3196502921196502921Human1name
597638028CV3717445single nucleotide variantNM_152617.4(RNF168):c.192C>G (p.Tyr64Ter)RIDDLE syndrome [RCV005024581]likely pathogenic3196502982196502982Human1name
597918691CV3737870duplicationNM_152617.4(RNF168):c.658dup (p.Arg220fs)not provided [RCV005074469]pathogenic3196483791196483792Humanname
597922059CV3738457single nucleotide variantNM_152617.4(RNF168):c.167G>T (p.Arg56Leu)not provided [RCV005074864]uncertain significance3196503007196503007Humanname
597905845CV3738713single nucleotide variantNM_152617.4(RNF168):c.112C>G (p.Pro38Ala)not provided [RCV005072947]uncertain significance3196503062196503062Humanname
597961436CV3812147deletionNM_152617.4(RNF168):c.377del (p.Lys126fs)not provided [RCV005163800]pathogenic3196488608196488608Humanname
597950708CV3815197duplicationNM_152617.4(RNF168):c.662dup (p.Asn221fs)not provided [RCV005161147]pathogenic3196483787196483788Humanname
597950954CV3815253single nucleotide variantNM_152617.4(RNF168):c.1593T>C (p.Val531=)not provided [RCV005161203]likely benign3196471942196471942Humanname
597972004CV3829425single nucleotide variantNM_152617.4(RNF168):c.1032A>G (p.Ala344=)not provided [RCV005167212]likely benign3196472503196472503Humanname
597833357CV3831532single nucleotide variantNM_152617.4(RNF168):c.1182C>T (p.Ser394=)not provided [RCV005170734]likely benign3196472353196472353Humanname
597926195CV3840657single nucleotide variantNM_152617.4(RNF168):c.209C>A (p.Ser70Tyr)not provided [RCV005185128]uncertain significance3196502965196502965Humanname
597919481CV3842621single nucleotide variantNM_152617.4(RNF168):c.1389G>T (p.Val463=)not provided [RCV005184106]likely benign3196472146196472146Humanname
15116609CV708756single nucleotide variantNM_152617.4(RNF168):c.1284A>G (p.Lys428=)RIDDLE syndrome [RCV001287342]|RNF168-related disorder [RCV004756135]|not provided [RCV000962065]benign3196472251196472251Human1name , trait , alternate_id
15201449CV720365single nucleotide variantNM_152617.4(RNF168):c.1680A>G (p.Lys560=)RNF168-related disorder [RCV004756078]|not provided [RCV000891196]likely benign3196471855196471855Human1name , trait , alternate_id
15130691CV733984single nucleotide variantNM_152617.4(RNF168):c.1278C>T (p.Thr426=)RNF168-related disorder [RCV003922893]|not provided [RCV000897645]benign|likely benign3196472257196472257Human1name , trait , alternate_id
15118125CV733985single nucleotide variantNM_152617.4(RNF168):c.1138C>T (p.Leu380=)not provided [RCV000895495]likely benign3196472397196472397Humanname
15200272CV748165single nucleotide variantNM_152617.4(RNF168):c.1194C>G (p.Val398=)not provided [RCV000912798]likely benign3196472341196472341Humanname
15107490CV748166single nucleotide variantNM_152617.4(RNF168):c.1134C>T (p.Cys378=)RNF168-related disorder [RCV003950827]|not provided [RCV000915965]likely benign3196472401196472401Human1name , trait , alternate_id
15182006CV763788single nucleotide variantNM_152617.4(RNF168):c.1653C>T (p.His551=)not provided [RCV000930263]likely benign3196471882196471882Humanname
15178032CV763789single nucleotide variantNM_152617.4(RNF168):c.1131G>A (p.Ser377=)not provided [RCV000929298]likely benign3196472404196472404Humanname
15176324CV763790single nucleotide variantNM_152617.4(RNF168):c.1008A>G (p.Arg336=)not provided [RCV000928891]likely benign3196472527196472527Humanname
41406979CV980450single nucleotide variantNM_152617.4(RNF168):c.237A>G (p.Ile79Met)Inborn genetic diseases [RCV002541756]|RIDDLE syndrome [RCV001280980]uncertain significance3196502937196502937Human2name
126726105CV1016226single nucleotide variantNM_152617.4(RNF168):c.496A>G (p.Arg166Gly)RIDDLE syndrome [RCV001331782]uncertain significance3196487461196487461Human1name
126749410CV1025165single nucleotide variantNM_152617.4(RNF168):c.976T>C (p.Cys326Arg)Inborn genetic diseases [RCV004036672]|not provided [RCV001352048]uncertain significance3196472559196472559Human1name
151893357CV1338180single nucleotide variantNM_152617.4(RNF168):c.370A>G (p.Ile124Val)not provided [RCV001944955]uncertain significance3196488615196488615Humanname
151758399CV1349835single nucleotide variantNM_152617.4(RNF168):c.521G>A (p.Ser174Asn)Inborn genetic diseases [RCV004671601]|not provided [RCV001986981]uncertain significance3196487436196487436Human1name
151798521CV1352768deletionNM_152617.4(RNF168):c.1698del (p.Gln567fs)not provided [RCV001877160]uncertain significance3196471837196471837Humanname
151813797CV1382233single nucleotide variantNM_152617.4(RNF168):c.444G>T (p.Arg148Ser)Inborn genetic diseases [RCV002625399]|not provided [RCV001992082]uncertain significance3196487513196487513Human1name
151820435CV1390812single nucleotide variantNM_152617.4(RNF168):c.766A>G (p.Ile256Val)Inborn genetic diseases [RCV004955962]|not provided [RCV001992716]uncertain significance3196472769196472769Human1name
151825706CV1392141single nucleotide variantNM_152617.4(RNF168):c.412G>T (p.Glu138Ter)not provided [RCV001879635]pathogenic3196487545196487545Humanname
151780012CV1408397single nucleotide variantNM_152617.4(RNF168):c.847C>A (p.Leu283Ile)not provided [RCV001915791]uncertain significance3196472688196472688Humanname
151793392CV1411367duplicationNM_152617.4(RNF168):c.1130dup (p.Cys378fs)not provided [RCV002010907]pathogenic|uncertain significance3196472404196472405Humanname
151812692CV1413765single nucleotide variantNM_152617.4(RNF168):c.659G>C (p.Arg220Thr)Inborn genetic diseases [RCV003250418]|not provided [RCV002029128]likely benign|uncertain significance3196483791196483791Human1name
151842147CV1418162single nucleotide variantNM_152617.4(RNF168):c.829C>G (p.Leu277Val)not provided [RCV001902974]uncertain significance3196472706196472706Humanname
151766420CV1418854single nucleotide variantNM_152617.4(RNF168):c.880A>G (p.Ile294Val)not provided [RCV001929094]uncertain significance3196472655196472655Humanname
151721318CV1421007single nucleotide variantNM_152617.4(RNF168):c.767T>C (p.Ile256Thr)Inborn genetic diseases [RCV002545746]|not provided [RCV002040123]likely benign|uncertain significance3196472768196472768Human1name
151804754CV1429767single nucleotide variantNM_152617.4(RNF168):c.422C>T (p.Ala141Val)Inborn genetic diseases [RCV004671587]|not provided [RCV001974233]uncertain significance3196487535196487535Human1name
151793968CV1434191single nucleotide variantNM_152617.4(RNF168):c.892A>G (p.Met298Val)not provided [RCV001866509]uncertain significance3196472643196472643Humanname
151769447CV1441926single nucleotide variantNM_152617.4(RNF168):c.919G>A (p.Glu307Lys)not provided [RCV002025210]uncertain significance3196472616196472616Humanname
151849114CV1442000single nucleotide variantNM_152617.4(RNF168):c.578G>A (p.Ser193Asn)not provided [RCV001995727]uncertain significance3196483872196483872Humanname
151780765CV1446295single nucleotide variantNM_152617.4(RNF168):c.824C>T (p.Pro275Leu)Inborn genetic diseases [RCV004956088]|not provided [RCV001989109]uncertain significance3196472711196472711Human1name
151822778CV1456464single nucleotide variantNM_152617.4(RNF168):c.494G>A (p.Arg165Gln)not provided [RCV002030049]uncertain significance3196487463196487463Humanname
151741936CV1466965single nucleotide variantNM_152617.4(RNF168):c.692C>T (p.Pro231Leu)not provided [RCV001912007]uncertain significance3196475301196475301Humanname
151713988CV1473340single nucleotide variantNM_152617.4(RNF168):c.413A>T (p.Glu138Val)not provided [RCV001889957]uncertain significance3196487544196487544Humanname
151799843CV1479912single nucleotide variantNM_152617.4(RNF168):c.683A>C (p.Tyr228Ser)Inborn genetic diseases [RCV002555354]|not provided [RCV001898962]uncertain significance3196475310196475310Human1name
151808492CV1483518single nucleotide variantNM_152617.4(RNF168):c.683A>G (p.Tyr228Cys)Inborn genetic diseases [RCV004955800]|not provided [RCV001918376]uncertain significance3196475310196475310Human1name
151786017CV1489907single nucleotide variantNM_152617.4(RNF168):c.596T>C (p.Leu199Ser)Inborn genetic diseases [RCV002560400]|RIDDLE syndrome [RCV003147702]|not provided [RCV001930908]uncertain significance3196483854196483854Human2name
151721088CV1494637single nucleotide variantNM_152617.4(RNF168):c.700C>G (p.Gln234Glu)not provided [RCV001965988]uncertain significance3196475293196475293Humanname
151773223CV1502245single nucleotide variantNM_152617.4(RNF168):c.524A>G (p.Asp175Gly)not provided [RCV001929732]uncertain significance3196487433196487433Humanname
8696367CV150469single nucleotide variantNM_152617.4(RNF168):c.391C>T (p.Arg131Ter)RIDDLE syndrome [RCV000128863]|RNF168-related disorder [RCV004755777]|not provided [RCV000727446]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity3196487566196487566Human1name , trait , alternate_id
151752572CV1508552single nucleotide variantNM_152617.4(RNF168):c.470A>G (p.Glu157Gly)not provided [RCV001986442]uncertain significance3196487487196487487Humanname
151846819CV1513013single nucleotide variantNM_152617.4(RNF168):c.311A>C (p.Tyr104Ser)not provided [RCV001922230]uncertain significance3196488674196488674Humanname
153303956CV1690572single nucleotide variantNM_152617.4(RNF168):c.940G>T (p.Val314Phe)not provided [RCV002269616]uncertain significance3196472595196472595Humanname
153303958CV1690573single nucleotide variantNM_152617.4(RNF168):c.939C>A (p.Asn313Lys)not provided [RCV002269617]uncertain significance3196472596196472596Humanname
156194228CV1900512single nucleotide variantNM_152617.4(RNF168):c.887C>T (p.Ser296Phe)not provided [RCV002574513]uncertain significance3196472648196472648Humanname
156204883CV1913097single nucleotide variantNM_152617.4(RNF168):c.394C>T (p.Arg132Trp)Inborn genetic diseases [RCV002595843]|not provided [RCV002595842]uncertain significance3196487563196487563Human1name
156368908CV1919939single nucleotide variantNM_152617.4(RNF168):c.584C>T (p.Ser195Leu)Inborn genetic diseases [RCV004661573]|not provided [RCV002603025]likely benign|uncertain significance3196483866196483866Human1name
156409424CV1922672single nucleotide variantNM_152617.4(RNF168):c.844T>C (p.Ser282Pro)not provided [RCV002607551]uncertain significance3196472691196472691Humanname
156436988CV1936812single nucleotide variantNM_152617.4(RNF168):c.563A>G (p.Asn188Ser)not provided [RCV003106515]uncertain significance3196483887196483887Humanname
156295889CV1955288single nucleotide variantNM_152617.4(RNF168):c.994C>T (p.Arg332Ter)not provided [RCV002578008]pathogenic3196472541196472541Humanname
155914952CV1984182single nucleotide variantNM_152617.4(RNF168):c.730G>A (p.Val244Ile)not provided [RCV002614258]uncertain significance3196475263196475263Humanname
156166172CV1986345single nucleotide variantNM_152617.4(RNF168):c.434A>G (p.Tyr145Cys)not provided [RCV002642582]uncertain significance3196487523196487523Humanname
156010208CV1991757single nucleotide variantNM_152617.4(RNF168):c.644G>A (p.Ser215Asn)not provided [RCV002618866]uncertain significance3196483806196483806Humanname
156065271CV2022263single nucleotide variantNM_152617.4(RNF168):c.323G>A (p.Arg108His)not provided [RCV002760146]uncertain significance3196488662196488662Humanname
155992479CV2027090single nucleotide variantNM_152617.4(RNF168):c.754G>A (p.Val252Ile)not provided [RCV002755812]uncertain significance3196475239196475239Humanname
155975960CV2032014single nucleotide variantNM_152617.4(RNF168):c.674T>C (p.Ile225Thr)Inborn genetic diseases [RCV004067756]|not provided [RCV002755102]uncertain significance3196483776196483776Human1name
155909953CV2032723single nucleotide variantNM_152617.4(RNF168):c.709T>G (p.Ser237Ala)not provided [RCV002750060]uncertain significance3196475284196475284Humanname
10449765CV215279single nucleotide variantNM_152617.4(RNF168):c.508G>A (p.Glu170Lys)RIDDLE syndrome [RCV003316125]|RNF168-related disorder [RCV003967546]|not provided [RCV000889623]|not specified [RCV000202860]benign|likely benign3196487449196487449Human1name , trait , alternate_id
156084644CV2170482single nucleotide variantNM_152617.4(RNF168):c.341G>C (p.Gly114Ala)not provided [RCV003038005]uncertain significance3196488644196488644Humanname
156008645CV2175744single nucleotide variantNM_152617.4(RNF168):c.947C>T (p.Thr316Ile)not provided [RCV003035118]uncertain significance3196472588196472588Humanname
156398822CV2194806single nucleotide variantNM_152617.4(RNF168):c.382G>A (p.Ala128Thr)Inborn genetic diseases [RCV002655741]uncertain significance3196487575196487575Human1name
156306736CV2252769single nucleotide variantNM_152617.4(RNF168):c.493C>G (p.Arg165Gly)Inborn genetic diseases [RCV002808598]uncertain significance3196487464196487464Human1name
156262556CV2314880single nucleotide variantNM_152617.4(RNF168):c.401G>C (p.Ser134Thr)Inborn genetic diseases [RCV002920595]uncertain significance3196487556196487556Human1name
156352434CV2323970single nucleotide variantNM_152617.4(RNF168):c.457G>A (p.Glu153Lys)Inborn genetic diseases [RCV002940087]uncertain significance3196487500196487500Human1name
11643870CV268399single nucleotide variantNM_152617.4(RNF168):c.383C>T (p.Ala128Val)not provided [RCV000903408]|not specified [RCV000402076]likely benign3196487574196487574Humanname
401732498CV2691025single nucleotide variantNM_152617.4(RNF168):c.688A>C (p.Thr230Pro)Inborn genetic diseases [RCV003290199]uncertain significance3196475305196475305Human1name
401890763CV2778337single nucleotide variantNM_152617.4(RNF168):c.311A>G (p.Tyr104Cys)Inborn genetic diseases [RCV003354564]likely benign3196488674196488674Human1name
402517143CV2936392single nucleotide variantNM_152617.4(RNF168):c.733C>T (p.Gln245Ter)not provided [RCV003662962]pathogenic3196475260196475260Humanname
405217088CV2978273single nucleotide variantNM_152617.4(RNF168):c.655C>G (p.Gln219Glu)not provided [RCV003709461]uncertain significance3196483795196483795Humanname
405698053CV3313101single nucleotide variantNM_152617.4(RNF168):c.350G>A (p.Arg117Lys)Inborn genetic diseases [RCV004446477]uncertain significance3196488635196488635Human1name
405697865CV3313103single nucleotide variantNM_152617.4(RNF168):c.547A>G (p.Ser183Gly)Inborn genetic diseases [RCV004446479]uncertain significance3196487410196487410Human1name
405697403CV3313107single nucleotide variantNM_152617.4(RNF168):c.845C>A (p.Ser282Tyr)Inborn genetic diseases [RCV004446483]uncertain significance3196472690196472690Human1name
597716485CV3717444deletionNM_152617.4(RNF168):c.1463del (p.Asn488fs)RIDDLE syndrome [RCV005035303]likely pathogenic3196472072196472072Human1name
597916728CV3737372single nucleotide variantNM_152617.4(RNF168):c.556A>G (p.Ile186Val)not provided [RCV005074161]uncertain significance3196487401196487401Humanname
598231716CV3909493single nucleotide variantNM_152617.4(RNF168):c.803A>G (p.Asp268Gly)Inborn genetic diseases [RCV005274544]uncertain significance3196472732196472732Human1name
598231720CV3909494single nucleotide variantNM_152617.4(RNF168):c.751T>C (p.Ser251Pro)Inborn genetic diseases [RCV005274545]uncertain significance3196475242196475242Human1name
598231724CV3909495single nucleotide variantNM_152617.4(RNF168):c.543G>C (p.Lys181Asn)Inborn genetic diseases [RCV005274546]uncertain significance3196487414196487414Human1name
598231727CV3909496single nucleotide variantNM_152617.4(RNF168):c.462A>T (p.Glu154Asp)Inborn genetic diseases [RCV005274547]uncertain significance3196487495196487495Human1name
598231738CV3909499single nucleotide variantNM_152617.4(RNF168):c.734A>C (p.Gln245Pro)Inborn genetic diseases [RCV005274550]uncertain significance3196475259196475259Human1name
13509071CV481683single nucleotide variantNM_152617.4(RNF168):c.493C>T (p.Arg165Ter)RIDDLE syndrome [RCV002497224]|not provided [RCV000578904]pathogenic|likely pathogenic3196487464196487464Human1name
15184072CV708758single nucleotide variantNM_152617.4(RNF168):c.499G>A (p.Ala167Thr)not provided [RCV000975025]benign3196487458196487458Humanname
15174789CV763791single nucleotide variantNM_152617.4(RNF168):c.482C>T (p.Ala161Val)not provided [RCV000928517]likely benign3196487475196487475Humanname
41405149CV981427single nucleotide variantNM_152617.4(RNF168):c.529G>A (p.Glu177Lys)RIDDLE syndrome [RCV001285444]|not provided [RCV001529456]likely benign|uncertain significance3196487428196487428Human1name
41407322CV981428single nucleotide variantNM_152617.4(RNF168):c.307G>A (p.Asp103Asn)RIDDLE syndrome [RCV001289561]|not provided [RCV001520973]benign3196488678196488678Human1name
126749163CV989434single nucleotide variantNM_152617.4(RNF168):c.331A>T (p.Ser111Cys)not provided [RCV001297080]uncertain significance3196488654196488654Humanname
126726101CV1016225single nucleotide variantNM_152617.4(RNF168):c.1123G>T (p.Glu375Ter)Riddle syndrome [RCV001331780]pathogenic3196472412196472412Humanname
127312462CV1154427single nucleotide variantNM_152617.4(RNF168):c.1030G>A (p.Ala344Thr)not provided [RCV001518968]benign3196472505196472505Humanname
151770296CV1339921single nucleotide variantNM_152617.4(RNF168):c.1219A>G (p.Arg407Gly)Inborn genetic diseases [RCV002551026]|not provided [RCV001874384]uncertain significance3196472316196472316Human1name
151870891CV1351643single nucleotide variantNM_152617.4(RNF168):c.1701G>T (p.Gln567His)not provided [RCV002018924]uncertain significance3196471834196471834Humanname
151726404CV1352871single nucleotide variantNM_152617.4(RNF168):c.1099A>G (p.Asn367Asp)not provided [RCV001891774]uncertain significance3196472436196472436Humanname
151822549CV1355339single nucleotide variantNM_152617.4(RNF168):c.1380G>C (p.Glu460Asp)not provided [RCV001934285]uncertain significance3196472155196472155Humanname
151851136CV1361958single nucleotide variantNM_152617.4(RNF168):c.1397G>A (p.Arg466Gln)Inborn genetic diseases [RCV004043122]|not provided [RCV001978954]uncertain significance3196472138196472138Human1name
151800575CV1365800single nucleotide variantNM_152617.4(RNF168):c.1112A>C (p.Glu371Ala)not provided [RCV001917678]uncertain significance3196472423196472423Humanname
151771599CV1366408single nucleotide variantNM_152617.4(RNF168):c.1136T>G (p.Leu379Arg)not provided [RCV001929570]uncertain significance3196472399196472399Humanname
151711017CV1377282single nucleotide variantNM_152617.4(RNF168):c.1435A>G (p.Thr479Ala)not provided [RCV001889381]uncertain significance3196472100196472100Humanname
151750871CV1377741single nucleotide variantNM_152617.4(RNF168):c.1391C>T (p.Pro464Leu)not provided [RCV001948125]uncertain significance3196472144196472144Humanname
151782258CV1381400single nucleotide variantNM_152617.4(RNF168):c.1677G>C (p.Gln559His)Inborn genetic diseases [RCV004041412]|not provided [RCV001875471]uncertain significance3196471858196471858Human1name
151812893CV1382511single nucleotide variantNM_152617.4(RNF168):c.1481C>A (p.Pro494His)not provided [RCV002049027]uncertain significance3196472054196472054Humanname
151787480CV1390475single nucleotide variantNM_152617.4(RNF168):c.1019C>T (p.Ser340Leu)RIDDLE syndrome [RCV003598063]|not provided [RCV001931065]uncertain significance3196472516196472516Human1name
151794886CV1395121single nucleotide variantNM_152617.4(RNF168):c.1430G>A (p.Arg477His)not provided [RCV001973386]uncertain significance3196472105196472105Humanname
151806691CV1400077single nucleotide variantNM_152617.4(RNF168):c.1363A>T (p.Lys455Ter)not provided [RCV002012055]uncertain significance3196472172196472172Humanname
151760656CV1410208single nucleotide variantNM_152617.4(RNF168):c.1411C>T (p.Pro471Ser)not provided [RCV001913941]uncertain significance3196472124196472124Humanname
151820681CV1416198single nucleotide variantNM_152617.4(RNF168):c.1633A>G (p.Lys545Glu)not provided [RCV001919537]uncertain significance3196471902196471902Humanname
151879159CV1419239single nucleotide variantNM_152617.4(RNF168):c.1037T>C (p.Met346Thr)Inborn genetic diseases [RCV002561455]|not provided [RCV001982289]likely benign|uncertain significance3196472498196472498Human1name
151799666CV1426341single nucleotide variantNM_152617.4(RNF168):c.1429C>T (p.Arg477Cys)not provided [RCV001990832]uncertain significance3196472106196472106Humanname
151760952CV1459580single nucleotide variantNM_152617.4(RNF168):c.1072A>C (p.Thr358Pro)not provided [RCV002044270]uncertain significance3196472463196472463Humanname
151781902CV1468964single nucleotide variantNM_152617.4(RNF168):c.1548C>G (p.Asp516Glu)not provided [RCV002026341]uncertain significance3196471987196471987Humanname
151737597CV1469442single nucleotide variantNM_152617.4(RNF168):c.1396C>T (p.Arg466Trp)not provided [RCV002041891]uncertain significance3196472139196472139Humanname
151733432CV1477550single nucleotide variantNM_152617.4(RNF168):c.1666A>G (p.Ser556Gly)not provided [RCV001967346]uncertain significance3196471869196471869Humanname
151720151CV1498265single nucleotide variantNM_152617.4(RNF168):c.1429C>G (p.Arg477Gly)not provided [RCV001965848]uncertain significance3196472106196472106Humanname
151783522CV1500516single nucleotide variantNM_152617.4(RNF168):c.1478A>G (p.Asn493Ser)not provided [RCV001972301]uncertain significance3196472057196472057Humanname
151741483CV1504248single nucleotide variantNM_152617.4(RNF168):c.1229T>C (p.Val410Ala)Inborn genetic diseases [RCV004656828]|not provided [RCV002022364]uncertain significance3196472306196472306Human1name
151790754CV1509140single nucleotide variantNM_152617.4(RNF168):c.1009G>A (p.Val337Ile)not provided [RCV001876491]uncertain significance3196472526196472526Humanname
152095008CV1546066single nucleotide variantNM_152617.4(RNF168):c.1275T>G (p.Phe425Leu)not provided [RCV002132507]benign3196472260196472260Humanname
155749541CV1773945single nucleotide variantNM_152617.4(RNF168):c.1520A>G (p.His507Arg)not provided [RCV002304758]uncertain significance3196472015196472015Humanname
155944584CV1911198single nucleotide variantNM_152617.4(RNF168):c.1012C>G (p.Pro338Ala)not provided [RCV002615856]uncertain significance3196472523196472523Humanname
156016963CV1912893single nucleotide variantNM_152617.4(RNF168):c.1066G>A (p.Ala356Thr)Inborn genetic diseases [RCV002602749]|not provided [RCV002619194]likely benign|uncertain significance3196472469196472469Human1name
156043369CV1926985single nucleotide variantNM_152617.4(RNF168):c.1166A>G (p.Lys389Arg)not provided [RCV002637670]uncertain significance3196472369196472369Humanname
156407640CV1957561single nucleotide variantNM_152617.4(RNF168):c.1079G>A (p.Gly360Glu)not provided [RCV002586290]uncertain significance3196472456196472456Humanname
156294433CV1958676single nucleotide variantNM_152617.4(RNF168):c.1463A>G (p.Asn488Ser)not provided [RCV002577957]uncertain significance3196472072196472072Humanname
155965436CV1977953single nucleotide variantNM_152617.4(RNF168):c.1706G>A (p.Cys569Tyr)not provided [RCV002616932]uncertain significance3196471829196471829Humanname
156082835CV1992841single nucleotide variantNM_152617.4(RNF168):c.1417G>A (p.Glu473Lys)Inborn genetic diseases [RCV004066638]|not provided [RCV002638954]uncertain significance3196472118196472118Human1name
155991429CV2027001single nucleotide variantNM_152617.4(RNF168):c.1289T>C (p.Ile430Thr)not provided [RCV002755767]uncertain significance3196472246196472246Humanname
156034489CV2029936single nucleotide variantNM_152617.4(RNF168):c.1091C>T (p.Thr364Ile)Inborn genetic diseases [RCV003167698]|not provided [RCV002735939]likely benign|uncertain significance3196472444196472444Human1name
155968708CV2030621single nucleotide variantNM_152617.4(RNF168):c.1252C>A (p.Gln418Lys)not provided [RCV002731520]uncertain significance3196472283196472283Humanname
156391317CV2118696single nucleotide variantNM_152617.4(RNF168):c.1102A>C (p.Asn368His)Inborn genetic diseases [RCV004958878]|not provided [RCV002943936]uncertain significance3196472433196472433Human1name
156077152CV2173565single nucleotide variantNM_152617.4(RNF168):c.1045G>A (p.Gly349Ser)not provided [RCV003053903]uncertain significance3196472490196472490Humanname
156350736CV2189636single nucleotide variantNM_152617.4(RNF168):c.1460T>C (p.Leu487Pro)not provided [RCV003048313]uncertain significance3196472075196472075Humanname
156255004CV2209692single nucleotide variantNM_152617.4(RNF168):c.1528C>T (p.Pro510Ser)Inborn genetic diseases [RCV002702677]likely benign3196472007196472007Human1name
156244314CV2267347single nucleotide variantNM_152617.4(RNF168):c.1169A>C (p.Asn390Thr)Inborn genetic diseases [RCV002830718]uncertain significance3196472366196472366Human1name
156153734CV2303853single nucleotide variantNM_152617.4(RNF168):c.1324C>G (p.Gln442Glu)Inborn genetic diseases [RCV002915542]uncertain significance3196472211196472211Human1name
156046331CV2315597single nucleotide variantNM_152617.4(RNF168):c.1052C>T (p.Thr351Ile)Inborn genetic diseases [RCV002924198]uncertain significance3196472483196472483Human1name
156014697CV2360169single nucleotide variantNM_152617.4(RNF168):c.1538G>T (p.Gly513Val)Inborn genetic diseases [RCV002998152]uncertain significance3196471997196471997Human1name
329356792CV2460554single nucleotide variantNM_152617.4(RNF168):c.1470G>C (p.Gln490His)Inborn genetic diseases [RCV003203448]uncertain significance3196472065196472065Human1name
329398592CV2471208single nucleotide variantNM_152617.4(RNF168):c.1046G>A (p.Gly349Asp)Inborn genetic diseases [RCV003196205]uncertain significance3196472489196472489Human1name
11638720CV268400single nucleotide variantNM_152617.4(RNF168):c.1237G>A (p.Glu413Lys)RIDDLE syndrome [RCV003316461]|RNF168-related disorder [RCV003947873]|not provided [RCV000880094]|not specified [RCV000308774]benign3196472298196472298Human1name , trait , alternate_id
401933514CV2802212single nucleotide variantNM_152617.4(RNF168):c.1606A>G (p.Met536Val)RNF168-related disorder [RCV003393022]uncertain significance3196471929196471929Humanname , trait , alternate_id
405063180CV2927191insertionNM_152617.4(RNF168):c.94_95insC (p.Asn32fs)not provided [RCV003580625]pathogenic3196503079196503080Humanname
405195280CV2975798single nucleotide variantNM_152617.4(RNF168):c.1058G>C (p.Ser353Thr)not provided [RCV003677592]uncertain significance3196472477196472477Humanname
402515505CV2991578single nucleotide variantNM_152617.4(RNF168):c.1657C>A (p.Leu553Ile)not provided [RCV003689804]uncertain significance3196471878196471878Humanname
407486243CV3479630single nucleotide variantNM_152617.4(RNF168):c.1159A>G (p.Lys387Glu)Inborn genetic diseases [RCV004665430]uncertain significance3196472376196472376Human1name
597718742CV3590241single nucleotide variantNM_152617.4(RNF168):c.1349C>T (p.Ala450Val)Inborn genetic diseases [RCV004960182]uncertain significance3196472186196472186Human1name
597908553CV3739014single nucleotide variantNM_152617.4(RNF168):c.1673C>T (p.Ser558Leu)not provided [RCV005073249]uncertain significance3196471862196471862Humanname
597871951CV3747093single nucleotide variantNM_152617.4(RNF168):c.1130C>T (p.Ser377Leu)not provided [RCV005068777]uncertain significance3196472405196472405Humanname
597966510CV3751596single nucleotide variantNM_152617.4(RNF168):c.1004C>G (p.Thr335Ser)not provided [RCV005082966]uncertain significance3196472531196472531Humanname
597953602CV3757082single nucleotide variantNM_152617.4(RNF168):c.1576C>A (p.Gln526Lys)not provided [RCV005079943]uncertain significance3196471959196471959Humanname
597948039CV3818220single nucleotide variantNM_152617.4(RNF168):c.1115C>T (p.Thr372Ile)not provided [RCV005160481]uncertain significance3196472420196472420Humanname
597865469CV3823331single nucleotide variantNM_152617.4(RNF168):c.1631G>A (p.Cys544Tyr)not provided [RCV005175681]uncertain significance3196471904196471904Humanname
597965653CV3823544single nucleotide variantNM_152617.4(RNF168):c.1454A>G (p.Lys485Arg)not provided [RCV005164964]uncertain significance3196472081196472081Humanname
597837483CV3828817single nucleotide variantNM_152617.4(RNF168):c.1174G>A (p.Glu392Lys)not provided [RCV005171510]uncertain significance3196472361196472361Humanname
597900360CV3835365single nucleotide variantNM_152617.4(RNF168):c.1711A>G (p.Lys571Glu)not provided [RCV005181088]uncertain significance3196471824196471824Humanname
12896947CV389582single nucleotide variantNM_152617.4(RNF168):c.1202C>A (p.Pro401Gln)RIDDLE syndrome [RCV001796056]|not provided [RCV001509689]|not specified [RCV000456034]benign3196472333196472333Human1name
598231730CV3909497single nucleotide variantNM_152617.4(RNF168):c.1438T>G (p.Ser480Ala)Inborn genetic diseases [RCV005274548]uncertain significance3196472097196472097Human1name
598231734CV3909498single nucleotide variantNM_152617.4(RNF168):c.1043G>A (p.Cys348Tyr)Inborn genetic diseases [RCV005274549]uncertain significance3196472492196472492Human1name
598176782CV4008186single nucleotide variantNM_152617.4(RNF168):c.1427T>G (p.Leu476Ter)RIDDLE syndrome [RCV005393702]likely pathogenic3196472108196472108Human1name
15156877CV697998single nucleotide variantNM_152617.4(RNF168):c.1160A>G (p.Lys387Arg)not provided [RCV000946781]benign3196472375196472375Humanname
15195653CV720366single nucleotide variantNM_152617.4(RNF168):c.1481C>T (p.Pro494Leu)RIDDLE syndrome [RCV003598008]|not provided [RCV000889562]benign3196472054196472054Human1name
15145758CV733986single nucleotide variantNM_152617.4(RNF168):c.1132T>C (p.Cys378Arg)RIDDLE syndrome [RCV002502651]|not provided [RCV000900212]benign|likely benign3196472403196472403Human1name
126730671CV985948single nucleotide variantNM_152617.4(RNF168):c.1568T>G (p.Leu523Ter)not provided [RCV002730106]pathogenic|uncertain significance3196471967196471967Humanname
126749814CV989431single nucleotide variantNM_152617.4(RNF168):c.1348G>C (p.Ala450Pro)not provided [RCV001297205]uncertain significance3196472187196472187Humanname
126762139CV989432single nucleotide variantNM_152617.4(RNF168):c.1085C>T (p.Thr362Ile)not provided [RCV001309802]uncertain significance3196472450196472450Humanname
151711652CV1340784deletionNM_152617.4(RNF168):c.194_198del (p.His65fs)not provided [RCV002002097]pathogenic3196502976196502980Humanname
151798417CV1376643deletionNM_152617.4(RNF168):c.150_151del (p.Cys50fs)not provided [RCV001932078]pathogenic3196503023196503024Humanname
126744390CV1019806deletionNM_152617.4(RNF168):c.659_662del (p.Arg220fs)RIDDLE syndrome [RCV001783685]|not provided [RCV001868868]pathogenic|likely pathogenic3196483788196483791Human1name
155955322CV1876683microsatelliteNM_152617.4(RNF168):c.655_658del (p.Gln219fs)not provided [RCV003074380]pathogenic3196483792196483795Humanname
156322724CV1877322deletionNM_152617.4(RNF168):c.477_480del (p.Ala161fs)not provided [RCV003063180]pathogenic3196487477196487480Humanname
402505640CV2884461microsatelliteNM_152617.4(RNF168):c.350_351del (p.Arg117fs)not provided [RCV003546335]pathogenic3196488634196488635Humanname
597877227CV3860232deletionNM_152617.4(RNF168):c.975_976del (p.Val327fs)not provided [RCV005198441]pathogenic3196472559196472560Humanname
126726103CV1016224deletionNM_152617.4(RNF168):c.1264_1265del (p.Glu422fs)Riddle syndrome [RCV001331781]pathogenic3196472270196472271Humanname
151726142CV1433434deletionNM_152617.4(RNF168):c.1454_1455del (p.Lys485fs)not provided [RCV001983702]uncertain significance3196472080196472081Humanname
151860542CV1452283deletionNM_152617.4(RNF168):c.1426_1429del (p.Leu476fs)not provided [RCV002017702]uncertain significance3196472106196472109Humanname
8555655CV15527deletionNM_152617.4(RNF168):c.1323_1326del (p.Gln442fs)RIDDLE syndrome [RCV000000517]|not provided [RCV005089137]pathogenic|likely pathogenic3196472209196472212Human1name
156402477CV1908125microsatelliteNM_152617.4(RNF168):c.1536_1537del (p.Gly513fs)Inborn genetic diseases [RCV002585036]|not provided [RCV002585035]uncertain significance3196471998196471999Humanname
597944920CV3779508deletionNM_152617.4(RNF168):c.1214_1230del (p.Ala405fs)not provided [RCV005134472]pathogenic3196472305196472321Humanname
597900095CV3850894deletionNM_152617.4(RNF168):c.1290_1293del (p.Asp431fs)not provided [RCV005201878]pathogenic3196472242196472245Humanname
151737929CV1500552indelNM_152617.4(RNF168):c.73_74delinsAG (p.Glu25Arg)not provided [RCV001984943]uncertain significance3196503100196503101Humanname
153000560CV1683142deletionNM_152617.4(RNF168):c.1150_1152del (p.Glu384del)See cases [RCV002253152]uncertain significance3196472383196472385Humanname
151731971CV1355544indelNM_152617.4(RNF168):c.754_755delinsAG (p.Val252Arg)not provided [RCV001984301]uncertain significance3196475238196475239Humanname
151891076CV1473259microsatelliteNM_152617.4(RNF168):c.640_644del (p.Lys213_Lys214insTer)not provided [RCV001888590]pathogenic3196483806196483810Humanname
151742374CV1519338duplicationNM_152617.4(RNF168):c.1591_1594dup (p.Asn532delinsSerTer)RIDDLE syndrome [RCV002053871]uncertain significance3196471940196471941Human1name
126757652CV989433deletionNM_152617.4(RNF168):c.368_370del (p.Glu123_Ile124delinsVal)not provided [RCV001298951]uncertain significance3196488615196488617Humanname