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Pathways
Variants search result for Homo sapiens
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More than 1000 records found for search term Cno (Displaying 1000)
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
153305669CV1688722single nucleotide variantNM_014515.7(CNOT2):c.-9C>Tnot specified [RCV002266461]uncertain significance127027821870278218Humanname
405283678CV3217228single nucleotide variantNM_014516.4(CNOT3):c.*5G>ACNOT3-related disorder [RCV003979315]likely benign195415541254155412Humanname , trait , alternate_id
150475664CV1279101single nucleotide variantNM_016284.5(CNOT1):c.*82G>Anot provided [RCV001713873]benign165852087658520876Humanname
155955089CV1936289single nucleotide variantNM_014516.4(CNOT3):c.-49G>Anot provided [RCV002511953]benign|likely benign195414293054142930Humanname
156136110CV2032728single nucleotide variantNM_014516.4(CNOT3):c.25+4C>Tnot provided [RCV002740735]benign|likely benign195414300754143007Humanname
243059114CV2415710single nucleotide variantNM_014516.4(CNOT3):c.94-3C>GIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003148317]uncertain significance195414343954143439Human1name
401929174CV2818741single nucleotide variantNM_014516.4(CNOT3):c.93+4C>Tnot provided [RCV003407102]uncertain significance195414319054143190Humanname
405264536CV3185333single nucleotide variantNM_014515.7(CNOT2):c.48+7C>Tnot provided [RCV003885897]likely benign127027828170278281Humanname
408394461CV3518279single nucleotide variantNM_014516.4(CNOT3):c.26-7T>AIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004759602]uncertain significance195414311254143112Human1name
596927655CV3532651single nucleotide variantNM_014515.7(CNOT2):c.49-2A>Cnot provided [RCV004778749]uncertain significance127031089370310893Humanname
596946886CV3546943single nucleotide variantNM_014516.4(CNOT3):c.26-2A>GIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810749]likely pathogenic195414311754143117Human1name
597656796CV3552338single nucleotide variantNM_014516.4(CNOT3):c.94-6C>AIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004821196]uncertain significance195414343654143436Human1name
151236096CV1319527single nucleotide variantNM_016284.5(CNOT1):c.638-1G>Anot provided [RCV001797472]pathogenic165858550758585507Humanname
152980005CV1675831single nucleotide variantNM_014516.4(CNOT3):c.-50-9T>Gnot provided [RCV002244422]uncertain significance195414292054142920Humanname
155794888CV1861112single nucleotide variantNM_016284.5(CNOT1):c.434-2A>GVissers-Bodmer syndrome [RCV002468825]pathogenic165858675058586750Human1name
156132943CV2022820single nucleotide variantNM_014516.4(CNOT3):c.93+13A>Gnot provided [RCV002740632]benign195414319954143199Humanname
156054975CV2023812single nucleotide variantNM_016284.5(CNOT1):c.638-4T>Anot provided [RCV002736634]likely benign165858551058585510Humanname
156255934CV2025934single nucleotide variantNM_016284.5(CNOT1):c.806+4G>Cnot provided [RCV002746147]uncertain significance165858533458585334Humanname
156136707CV2032751single nucleotide variantNM_014516.4(CNOT3):c.387+9G>Tnot provided [RCV002740755]benign195414414354144143Humanname
156136961CV2032761single nucleotide variantNM_014516.4(CNOT3):c.895-4G>Tnot provided [RCV002740764]likely benign195414814454148144Humanname
156181975CV2058698single nucleotide variantNM_016284.5(CNOT1):c.103-1G>Cnot provided [RCV002828333]uncertain significance165858890758588907Humanname
156068889CV2065688single nucleotide variantNM_016284.5(CNOT1):c.806+4G>Anot provided [RCV002847012]uncertain significance165858533458585334Humanname
156351279CV2069632single nucleotide variantNM_014516.4(CNOT3):c.704-8C>Tnot provided [RCV002811806]likely benign195414590254145902Humanname
155984789CV2094721single nucleotide variantNM_016284.5(CNOT1):c.637+3A>Gnot provided [RCV002907872]likely benign165858654258586542Humanname
156224990CV2168602single nucleotide variantNM_014516.4(CNOT3):c.895-6C>Anot provided [RCV003042866]likely benign195414814254148142Humanname
156435183CV2403433single nucleotide variantNM_014516.4(CNOT3):c.483+5G>AAutism spectrum disorder [RCV003127369]likely benign195414433754144337Human2name
243058471CV2404909single nucleotide variantNM_014516.4(CNOT3):c.894+9G>TIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005417573]uncertain significance195414666654146666Human1name
401740344CV2738706single nucleotide variantNM_016284.5(CNOT1):c.310-3C>Gnot provided [RCV003318100]uncertain significance165858741658587416Humanname
404998018CV2849840single nucleotide variantNM_014516.4(CNOT3):c.388-6C>TIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003492975]uncertain significance195414423154144231Human1name
402503320CV2937755single nucleotide variantNM_014516.4(CNOT3):c.704-5C>Anot provided [RCV003661807]likely benign195414590554145905Humanname
402503313CV3041750single nucleotide variantNM_014516.4(CNOT3):c.484-8G>Tnot provided [RCV003714965]uncertain significance195414559054145590Humanname
405219938CV3063317single nucleotide variantNM_016284.5(CNOT1):c.807-4T>Anot provided [RCV003733066]likely benign165858318658583186Humanname
408389615CV3524658single nucleotide variantNM_016284.5(CNOT1):c.434-2A>Tnot provided [RCV004769553]likely pathogenic165858675058586750Humanname
596946896CV3546953single nucleotide variantNM_014516.4(CNOT3):c.387+1G>AIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810759]pathogenic195414413554144135Human1name
597632738CV3552894single nucleotide variantNM_014516.4(CNOT3):c.258+3A>Gnot provided [RCV004823724]uncertain significance195414375254143752Humanname
597647779CV3650474single nucleotide variantNM_014516.4(CNOT3):c.387+5G>AInborn genetic diseases [RCV004974079]uncertain significance195414413954144139Human1name
597937872CV3807940single nucleotide variantNM_014516.4(CNOT3):c.94-10C>Tnot provided [RCV005158319]likely benign195414343254143432Humanname
597866405CV3834456single nucleotide variantNM_014516.4(CNOT3):c.484-8G>Anot provided [RCV005175823]likely benign195414559054145590Humanname
597887355CV3839051single nucleotide variantNM_016284.5(CNOT1):c.637+6G>Anot provided [RCV005179136]uncertain significance165858653958586539Humanname
597887864CV3859397single nucleotide variantNM_016284.5(CNOT1):c.934-8T>Cnot provided [RCV005200053]benign165858291158582911Humanname
598257785CV3941288single nucleotide variantNM_016284.5(CNOT1):c.378+2T>GInborn genetic diseases [RCV005324486]uncertain significance165858734358587343Human1name
617151205CV4017785single nucleotide variantNM_014516.4(CNOT3):c.168+8G>AIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005417571]uncertain significance195414352454143524Human1name
40815859CV970508single nucleotide variantNM_016284.5(CNOT1):c.102+2T>CVissers-Bodmer syndrome [RCV001261954]likely pathogenic165859923458599234Human1name
150337110CV1173294variationNM_014516.4(CNOT3):c.1606-694=not provided [RCV001541419]benign195415153254151532Humanname
150458132CV1207356single nucleotide variantNM_016284.5(CNOT1):c.5896-5C>THoloprosencephaly 12 with or without pancreatic agenesis [RCV001588038]|Vissers-Bodmer syndrome [RCV001588039]|not provided [RCV001673225]benign165853240058532400Human5name
150489034CV1250477single nucleotide variantNM_016284.5(CNOT1):c.433+63T>Cnot provided [RCV001674439]benign165858713858587138Humanname
150480015CV1258351single nucleotide variantNM_016284.5(CNOT1):c.103-32C>Gnot provided [RCV001685770]benign165858893858588938Humanname
150456401CV1260007single nucleotide variantNM_016284.5(CNOT1):c.433+95A>Gnot provided [RCV001681486]benign165858710658587106Humanname
150494137CV1267291single nucleotide variantNM_016284.5(CNOT1):c.210+99C>Tnot provided [RCV001688319]benign165858870058588700Humanname
150496262CV1272839single nucleotide variantNM_016284.5(CNOT1):c.309+81G>Anot provided [RCV001688762]benign165858769958587699Humanname
150508873CV1284392duplicationNM_016284.5(CNOT1):c.933+53dupnot provided [RCV001720500]benign165858299458582995Humanname
150509322CV1284508single nucleotide variantNM_016284.5(CNOT1):c.103-60C>Tnot provided [RCV001720616]benign165858896658588966Humanname
151235068CV1318327single nucleotide variantNM_016284.5(CNOT1):c.4575+5G>Anot provided [RCV001794650]uncertain significance165854242358542423Humanname
152141160CV1628894single nucleotide variantNM_014516.4(CNOT3):c.703+18A>Gnot provided [RCV002100795]benign195414583554145835Humanname
152071156CV1630730single nucleotide variantNM_016284.5(CNOT1):c.637+14T>Gnot provided [RCV002129635]benign165858653158586531Humanname
152982740CV1677658single nucleotide variantNM_014516.4(CNOT3):c.1706-2A>GIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV002249370]pathogenic195415242654152426Human1name
153301003CV1688843single nucleotide variantNM_016284.5(CNOT1):c.-175+5G>AHoloprosencephaly 12 with or without pancreatic agenesis [RCV002266571]uncertain significance165862972358629723Human1name
153348439CV1692476single nucleotide variantNM_016284.5(CNOT1):c.6178-2A>GNeurodevelopmental delay [RCV002274329]likely pathogenic165853034958530349Human1name
155642946CV1707586single nucleotide variantNM_016284.5(CNOT1):c.3750+5G>AVissers-Bodmer syndrome [RCV002289047]likely pathogenic165854718158547181Human1name
156324752CV1871083single nucleotide variantNM_016284.5(CNOT1):c.3201+9A>Cnot provided [RCV003063322]likely benign165855158058551580Humanname
156444982CV1949035single nucleotide variantNM_016284.5(CNOT1):c.2332+9G>Anot provided [RCV003115916]likely benign165855846458558464Humanname
156030415CV2022633single nucleotide variantNM_014516.4(CNOT3):c.703+16T>Cnot provided [RCV002735784]benign195414583354145833Humanname
156130949CV2022736single nucleotide variantNM_014516.4(CNOT3):c.703+20C>Tnot provided [RCV002740561]benign195414583754145837Humanname
156133013CV2022822single nucleotide variantNM_014516.4(CNOT3):c.258+18G>Anot provided [RCV002740634]benign195414376754143767Humanname
156177298CV2023147single nucleotide variantNM_016284.5(CNOT1):c.6059+8T>Cnot provided [RCV002765504]likely benign165853222458532224Humanname
156180870CV2023345single nucleotide variantNM_016284.5(CNOT1):c.378+16A>Gnot provided [RCV002765610]benign165858732958587329Humanname
156038858CV2026285single nucleotide variantNM_016284.5(CNOT1):c.309+13A>Gnot provided [RCV002736105]likely benign165858776758587767Humanname
156249674CV2029553single nucleotide variantNM_014516.4(CNOT3):c.2164-7C>Tnot provided [RCV002745946]benign|likely benign195415530254155302Humanname
156143020CV2033021single nucleotide variantNM_016284.5(CNOT1):c.933+18A>Gnot provided [RCV002740965]likely benign165858303858583038Humanname
156145028CV2033122single nucleotide variantNM_016284.5(CNOT1):c.1828-9A>Gnot provided [RCV002741034]likely benign165857476958574769Humanname
155915564CV2033428single nucleotide variantNM_014516.4(CNOT3):c.388-13C>Tnot provided [RCV002750446]likely benign195414422454144224Humanname
156152204CV2049142single nucleotide variantNM_016284.5(CNOT1):c.2130+4A>Gnot provided [RCV002801328]uncertain significance165856020858560208Humanname
155991597CV2049665single nucleotide variantNM_016284.5(CNOT1):c.2131-3T>Cnot provided [RCV002819230]uncertain significance165855867758558677Humanname
156032378CV2059208single nucleotide variantNM_016284.5(CNOT1):c.6178-7C>Tnot provided [RCV002796108]likely benign165853035458530354Humanname
155935908CV2064547single nucleotide variantNM_016284.5(CNOT1):c.5895+4T>CInborn genetic diseases [RCV002829992]|not provided [RCV002861435]uncertain significance165853414358534143Human1name
156190811CV2066374single nucleotide variantNM_016284.5(CNOT1):c.6177+8T>Gnot provided [RCV002828602]likely benign165853195058531950Humanname
156125110CV2090117single nucleotide variantNM_016284.5(CNOT1):c.5415-8T>Cnot provided [RCV002889719]likely benign165853722858537228Humanname
156237252CV2090255single nucleotide variantNM_014516.4(CNOT3):c.259-18C>Tnot provided [RCV002894782]likely benign195414398854143988Humanname
156150517CV2091048duplicationNM_016284.5(CNOT1):c.3202-3dupnot provided [RCV002890636]benign165855127458551275Humanname
156264332CV2100842single nucleotide variantNM_016284.5(CNOT1):c.2480-4A>Gnot provided [RCV002877383]uncertain significance165855591258555912Humanname
156205994CV2103721single nucleotide variantNM_016284.5(CNOT1):c.4680+8T>Cnot provided [RCV002931865]benign165854222358542223Humanname
156297120CV2108599single nucleotide variantNM_016284.5(CNOT1):c.1344-5G>Anot provided [RCV002922398]likely benign165857894458578944Humanname
156307439CV2115682single nucleotide variantNM_016284.5(CNOT1):c.2480-5A>GCNOT1-related disorder [RCV003961226]|Inborn genetic diseases [RCV002922887]|not provided [RCV002922888]benign|likely benign165855591358555913Human2name , alternate_id
155940437CV2119795single nucleotide variantNM_016284.5(CNOT1):c.6917+7G>Anot provided [RCV002971244]likely benign165852336358523363Humanname
156149073CV2128531single nucleotide variantNM_016284.5(CNOT1):c.5895+9T>CCNOT1-related disorder [RCV003926585]|not provided [RCV002928837]benign|likely benign165853413858534138Human1name , alternate_id
155908279CV2130953single nucleotide variantNM_016284.5(CNOT1):c.310-14T>Cnot provided [RCV002967854]likely benign165858742758587427Humanname
156025145CV2137713single nucleotide variantNM_016284.5(CNOT1):c.1704+9A>Cnot provided [RCV002976348]benign165857645458576454Humanname
156325177CV2159749single nucleotide variantNM_016284.5(CNOT1):c.3202-5T>Cnot provided [RCV003029441]likely benign165855127758551277Humanname
156356292CV2165942deletionNM_016284.5(CNOT1):c.6785-8delnot provided [RCV003031257]likely benign165852351058523510Humanname
243050574CV2403881single nucleotide variantNM_016284.5(CNOT1):c.1343+1G>TNuerodevelopment disorder [RCV003128552]pathogenic165858063258580632Humanname
401927005CV2796825single nucleotide variantNM_016284.5(CNOT1):c.5136-4C>GCNOT1-related disorder [RCV003406125]uncertain significance165853827058538270Humanname , trait , alternate_id
401913508CV2830425deletionNM_014516.4(CNOT3):c.1606-3delnot provided [RCV003441640]uncertain significance195415222054152220Humanname
401943709CV2840158deletionNM_016284.5(CNOT1):c.4434+1delnot provided [RCV003456933]likely pathogenic165854360658543606Humanname
405172249CV2854355single nucleotide variantNM_016284.5(CNOT1):c.6454-9C>Gnot provided [RCV003542120]benign165852614758526147Humanname
402482656CV2937482single nucleotide variantNM_016284.5(CNOT1):c.2480-7C>Anot provided [RCV003659785]benign165855591558555915Humanname
405100528CV2938247single nucleotide variantNM_016284.5(CNOT1):c.1216-8C>Tnot provided [RCV003665877]likely benign165858076858580768Humanname
405063457CV2939787single nucleotide variantNM_016284.5(CNOT1):c.3639+8T>Cnot provided [RCV003658951]likely benign165854755858547558Humanname
402500063CV2943526single nucleotide variantNM_014516.4(CNOT3):c.484-19G>Anot provided [RCV003661511]likely benign195414557954145579Humanname
405154720CV2949344deletionNM_014516.4(CNOT3):c.703+20delnot provided [RCV003674190]likely benign195414583754145837Humanname
405242611CV2967380single nucleotide variantNM_016284.5(CNOT1):c.4800+8T>Gnot provided [RCV003684395]likely benign165854149358541493Humanname
405210477CV2970592single nucleotide variantNM_016284.5(CNOT1):c.1215+5G>Anot provided [RCV003679322]uncertain significance165858134058581340Humanname
405065388CV3020770single nucleotide variantNM_014516.4(CNOT3):c.894+19C>Tnot provided [RCV003697936]benign195414667654146676Humanname
405121701CV3024529single nucleotide variantNM_014516.4(CNOT3):c.483+17C>Tnot provided [RCV003700751]benign195414434954144349Humanname
405173510CV3026899single nucleotide variantNM_016284.5(CNOT1):c.378+18A>Gnot provided [RCV003704894]likely benign165858732758587327Humanname
405120392CV3027148single nucleotide variantNM_014516.4(CNOT3):c.1905-9C>Anot provided [RCV003700696]likely benign195415285854152858Humanname
405144477CV3027331single nucleotide variantNM_014516.4(CNOT3):c.838-10C>Gnot provided [RCV003702800]likely benign195414659154146591Humanname
405070105CV3037510single nucleotide variantNM_014516.4(CNOT3):c.837+13G>Anot provided [RCV003698268]likely benign195414605654146056Humanname
405288500CV3193604single nucleotide variantNM_014516.4(CNOT3):c.2164-9C>GCNOT3-related disorder [RCV003982610]uncertain significance195415530054155300Humanname , trait , alternate_id
405272780CV3210206single nucleotide variantNM_016284.5(CNOT1):c.2970+9C>GCNOT1-related disorder [RCV003914442]likely benign165855377358553773Humanname , trait , alternate_id
405674181CV3304603single nucleotide variantNM_014516.4(CNOT3):c.2037+3A>CInborn genetic diseases [RCV004441988]likely pathogenic195415300254153002Human1name
405866707CV3401113single nucleotide variantNM_016284.5(CNOT1):c.6603+3T>AVissers-Bodmer syndrome [RCV004577229]uncertain significance165852598658525986Human1name
407425519CV3409573single nucleotide variantNM_014515.7(CNOT2):c.1179-3C>Tnot provided [RCV004585505]likely benign127034210470342104Humanname
408388229CV3527424single nucleotide variantNM_016284.5(CNOT1):c.3639+5G>Anot provided [RCV004773727]uncertain significance165854756158547561Humanname
596921079CV3534696single nucleotide variantNM_016284.5(CNOT1):c.4575+6T>Gnot provided [RCV004784253]uncertain significance165854242258542422Humanname
596942864CV3544228single nucleotide variantNM_014516.4(CNOT3):c.1905-7C>Gnot provided [RCV005001478]|not specified [RCV004800221]uncertain significance195415286054152860Humanname
596946881CV3546938single nucleotide variantNM_014516.4(CNOT3):c.1406+1G>AIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810744]pathogenic195414874454148744Human1name
596946883CV3546940single nucleotide variantNM_014516.4(CNOT3):c.1705+2T>GIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810746]pathogenic195415232754152327Human1name
596946887CV3546944single nucleotide variantNM_014516.4(CNOT3):c.1904+2T>CIntellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810750]pathogenic|likely pathogenic195415262854152628Human1name
597647746CV3653954duplicationNM_016284.5(CNOT1):c.7052+2dupInborn genetic diseases [RCV004974072]uncertain significance165852118058521181Human1name
597852444CV3758574single nucleotide variantNM_016284.5(CNOT1):c.3343-7C>Tnot provided [RCV005088133]likely benign165854990558549905Humanname
597875529CV3766298single nucleotide variantNM_016284.5(CNOT1):c.2970+7G>Anot provided [RCV005108430]benign165855377558553775Humanname
597905980CV3773018single nucleotide variantNM_016284.5(CNOT1):c.5896-4G>Tnot provided [RCV005113082]likely benign165853239958532399Humanname
597960668CV3794717single nucleotide variantNM_016284.5(CNOT1):c.210+17G>Tnot provided [RCV005138622]likely benign165858878258588782Humanname
597951421CV3798328single nucleotide variantNM_016284.5(CNOT1):c.5415-5G>Anot provided [RCV005136108]likely benign165853722558537225Humanname
597936276CV3807611single nucleotide variantNM_016284.5(CNOT1):c.5896-4G>Anot provided [RCV005157989]likely benign165853239958532399Humanname
597891992CV3809755single nucleotide variantNM_014516.4(CNOT3):c.894+12C>Tnot provided [RCV005151475]likely benign195414666954146669Humanname
597948290CV3818279deletionNM_016284.5(CNOT1):c.3202-3delnot provided [RCV005160540]benign165855127558551275Humanname
597939750CV3818713single nucleotide variantNM_016284.5(CNOT1):c.6784+7G>Anot provided [RCV005158719]likely benign165852517258525172Humanname
597861896CV3822573duplicationNM_016284.5(CNOT1):c.378+18dupnot provided [RCV005175103]benign165858732658587327Humanname
597879506CV3826260duplicationNM_016284.5(CNOT1):c.1215+6dupnot provided [RCV005177956]likely benign165858133858581339Humanname
597972259CV3829542single nucleotide variantNM_016284.5(CNOT1):c.2130+7G>Anot provided [RCV005167329]likely benign165856020558560205Humanname
597909879CV3830108single nucleotide variantNM_016284.5(CNOT1):c.1343+8C>Tnot provided [RCV005182678]likely benign165858062558580625Humanname
597954231CV3844373single nucleotide variantNM_016284.5(CNOT1):c.1585-5T>Cnot provided [RCV005191046]likely benign165857658758576587Humanname
598124073CV3884132duplicationNM_016284.5(CNOT1):c.3202-2dupHoloprosencephaly 12 with or without pancreatic agenesis [RCV005234900]likely pathogenic165855127358551274Human1name
598129292CV3888586single nucleotide variantNM_014516.4(CNOT3):c.1606-6C>Tnot provided [RCV005244760]uncertain significance195415222054152220Humanname
15170314CV731084single nucleotide variantNM_016284.5(CNOT1):c.2892-8G>TCNOT1-related disorder [RCV003930593]|not provided [RCV000883447]benign165855386858553868Human1name , alternate_id
150336215CV1172874single nucleotide variantNM_016284.5(CNOT1):c.2891+43C>Tnot provided [RCV001540892]benign165855520858555208Humanname
150332245CV1172876deletionNM_016284.5(CNOT1):c.102+185delnot provided [RCV001538949]benign165859905158599051Humanname
150458136CV1207360single nucleotide variantNM_016284.5(CNOT1):c.4006+12A>GHoloprosencephaly 12 with or without pancreatic agenesis [RCV001588046]|Vissers-Bodmer syndrome [RCV001588047]|not provided [RCV001676066]benign165854630958546309Human2name
150512153CV1212929single nucleotide variantNM_016284.5(CNOT1):c.3828+57T>Gnot provided [RCV001598161]benign165854661558546615Humanname
150500544CV1213177single nucleotide variantNM_016284.5(CNOT1):c.4434+90G>Anot provided [RCV001594589]benign165854351758543517Humanname
150474647CV1217833single nucleotide variantNM_016284.5(CNOT1):c.6784+94G>Anot provided [RCV001615844]benign165852508558525085Humanname
150495929CV1225197single nucleotide variantNM_016284.5(CNOT1):c.3640-28G>Anot provided [RCV001619675]benign165854732458547324Humanname
150514069CV1228039single nucleotide variantNM_016284.5(CNOT1):c.2891+92C>Gnot provided [RCV001638317]benign165855515958555159Humanname
150514526CV1228545deletionNM_016284.5(CNOT1):c.1980-75delnot provided [RCV001638533]benign165856043758560437Humanname
150510701CV1229223single nucleotide variantNM_016284.5(CNOT1):c.1979+77T>Cnot provided [RCV001637151]benign165857453258574532Humanname
150433764CV1230620single nucleotide variantNM_016284.5(CNOT1):c.1216-79C>Anot provided [RCV001643566]benign165858083958580839Humanname
150460123CV1236199single nucleotide variantNM_016284.5(CNOT1):c.5415-61G>Anot provided [RCV001649170]benign165853728158537281Humanname
150431815CV1236543single nucleotide variantNM_016284.5(CNOT1):c.1215+26A>Gnot provided [RCV001641947]benign165858131958581319Humanname
150465688CV1240283single nucleotide variantNM_016284.5(CNOT1):c.5415-65A>Gnot provided [RCV001650044]benign165853728558537285Humanname
150440593CV1246597single nucleotide variantNM_016284.5(CNOT1):c.5245-46G>Tnot provided [RCV001666250]benign165853810658538106Humanname
150458003CV1248868single nucleotide variantNM_016284.5(CNOT1):c.4801-83G>Anot provided [RCV001669044]benign165854004258540042Humanname
150485468CV1250233single nucleotide variantNM_016284.5(CNOT1):c.1216-69G>Anot provided [RCV001673846]benign165858082958580829Humanname
150490003CV1250952single nucleotide variantNM_016284.5(CNOT1):c.433+110T>Cnot provided [RCV001674619]benign165858709158587091Humanname
150459764CV1252999single nucleotide variantNM_016284.5(CNOT1):c.3828+46A>Gnot provided [RCV001669327]benign165854662658546626Humanname
150466348CV1255724deletionNM_016284.5(CNOT1):c.210+106delnot provided [RCV001670358]benign165858869358588693Humanname
150443470CV1266400single nucleotide variantNM_016284.5(CNOT1):c.2332+99G>Anot provided [RCV001690836]benign165855837458558374Humanname
150469557CV1268118duplicationNM_016284.5(CNOT1):c.1584+84dupnot provided [RCV001694981]benign165857860658578607Humanname
150456879CV1269136single nucleotide variantNM_016284.5(CNOT1):c.4801-38C>Tnot provided [RCV001692960]benign165853999758539997Humanname
150467758CV1269285duplicationNM_016284.5(CNOT1):c.6917+64dupnot provided [RCV001694693]benign165852330558523306Humanname
150509024CV1284431duplicationNM_016284.5(CNOT1):c.4992+88dupnot provided [RCV001720539]benign165853967958539680Humanname
152111358CV1640377single nucleotide variantNM_016284.5(CNOT1):c.6059+17C>Tnot provided [RCV002174374]benign165853221558532215Humanname
152091159CV1662135single nucleotide variantNM_016284.5(CNOT1):c.1216-17A>Gnot provided [RCV002132061]benign165858077758580777Humanname
155796388CV1861822deletionNM_016284.5(CNOT1):c.1585-14delnot specified [RCV002470104]uncertain significance165857659658576596Humanname
156373513CV1901913single nucleotide variantNM_016284.5(CNOT1):c.2971-10A>Gnot provided [RCV003092664]likely benign165855182958551829Humanname
156030006CV2022613single nucleotide variantNM_016284.5(CNOT1):c.6784+11C>Tnot provided [RCV002735769]benign165852516858525168Humanname
156133527CV2022840single nucleotide variantNM_016284.5(CNOT1):c.2970+14G>Anot provided [RCV002740650]benign165855376858553768Humanname
156134655CV2022890single nucleotide variantNM_016284.5(CNOT1):c.5244+20G>Tnot provided [RCV002740686]likely benign165853813858538138Humanname
156153173CV2023146single nucleotide variantNM_016284.5(CNOT1):c.1584+13C>Tnot provided [RCV002741288]likely benign165857868658578686Humanname
156156283CV2023361single nucleotide variantNM_016284.5(CNOT1):c.6178-16C>Tnot provided [RCV002741388]benign165853036358530363Humanname
156274106CV2023379single nucleotide variantNM_016284.5(CNOT1):c.4007-18T>Cnot provided [RCV002746739]likely benign165854550958545509Humanname
155961733CV2023711single nucleotide variantNM_016284.5(CNOT1):c.5896-16T>Cnot provided [RCV002731207]likely benign165853241158532411Humanname
156242061CV2024548single nucleotide variantNM_016284.5(CNOT1):c.4137+10C>Tnot provided [RCV002745695]likely benign165854535158545351Humanname
156027589CV2025795duplicationNM_016284.5(CNOT1):c.4435-19dupnot provided [RCV002735666]benign165854258658542587Humanname
155913134CV2025862single nucleotide variantNM_016284.5(CNOT1):c.6279+19T>Cnot provided [RCV002750282]likely benign165853022758530227Humanname
156258212CV2026019single nucleotide variantNM_014516.4(CNOT3):c.1406+12G>Anot provided [RCV002746216]likely benign195414875554148755Humanname
156042541CV2026454single nucleotide variantNM_016284.5(CNOT1):c.4992+16A>Gnot provided [RCV002736239]benign165853975258539752Humanname
156174086CV2026550deletionNM_016284.5(CNOT1):c.4435-19delnot provided [RCV002765408]benign165854258758542587Humanname
156145535CV2026592single nucleotide variantNM_016284.5(CNOT1):c.4435-19C>Gnot provided [RCV002741052]likely benign165854258758542587Humanname
156145809CV2026602single nucleotide variantNM_016284.5(CNOT1):c.3751-18A>Gnot provided [RCV002741061]likely benign165854676758546767Humanname
156273385CV2027095deletionNM_016284.5(CNOT1):c.6279+11delnot provided [RCV002746716]likely benign165853023558530235Humanname
156249227CV2029538single nucleotide variantNM_016284.5(CNOT1):c.6453+12A>Gnot provided [RCV002745933]benign165852846358528463Humanname
156032469CV2029840single nucleotide variantNM_014516.4(CNOT3):c.1282+18G>Anot provided [RCV002735863]likely benign195414855354148553Humanname
156036563CV2030048single nucleotide variantNM_016284.5(CNOT1):c.6603+18A>Cnot provided [RCV002736020]likely benign165852597158525971Humanname
156262071CV2030171single nucleotide variantNM_016284.5(CNOT1):c.5135+16C>Tnot provided [RCV002746345]likely benign165853875658538756Humanname
155986380CV2030467single nucleotide variantNM_016284.5(CNOT1):c.2130+11G>Anot provided [RCV002755556]likely benign165856020158560201Humanname
156095714CV2030920single nucleotide variantNM_016284.5(CNOT1):c.4006+15T>Gnot provided [RCV002761117]likely benign165854630658546306Humanname
156136324CV2032736single nucleotide variantNM_016284.5(CNOT1):c.4434+15T>Cnot provided [RCV002740742]likely benign165854359258543592Humanname
156137720CV2032788single nucleotide variantNM_016284.5(CNOT1):c.6453+19A>Tnot provided [RCV002740788]benign165852845658528456Humanname
155911079CV2033072single nucleotide variantNM_014516.4(CNOT3):c.2038-18C>Tnot provided [RCV002750141]benign195415369754153697Humanname
155955148CV2033353single nucleotide variantNM_016284.5(CNOT1):c.4993-19C>Tnot provided [RCV002730888]likely benign165853893358538933Humanname
156260616CV2033949single nucleotide variantNM_016284.5(CNOT1):c.3829-11G>Anot provided [RCV002746295]benign165854650958546509Humanname
155967461CV2034389single nucleotide variantNM_016284.5(CNOT1):c.4993-18G>Anot provided [RCV002731461]likely benign165853893258538932Humanname
155927811CV2041579duplicationNM_016284.5(CNOT1):c.1585-20dupnot provided [RCV002751014]likely benign165857660158576602Humanname
156101188CV2051123single nucleotide variantNM_016284.5(CNOT1):c.5136-15T>Cnot provided [RCV002824565]likely benign165853828158538281Humanname
156228793CV2077381single nucleotide variantNM_016284.5(CNOT1):c.6178-17A>Gnot provided [RCV002853492]likely benign165853036458530364Humanname
156234233CV2085493single nucleotide variantNM_016284.5(CNOT1):c.6918-16T>Gnot provided [RCV002876354]likely benign165852133358521333Humanname
156014614CV2086887single nucleotide variantNM_014516.4(CNOT3):c.1705+13G>Cnot provided [RCV002866287]likely benign195415233854152338Humanname
156213794CV2087352single nucleotide variantNM_016284.5(CNOT1):c.1585-19T>Cnot provided [RCV002852931]likely benign165857660158576601Humanname
155928161CV2095850single nucleotide variantNM_016284.5(CNOT1):c.2971-18C>Tnot provided [RCV002903679]likely benign165855183758551837Humanname
156342378CV2103434single nucleotide variantNM_016284.5(CNOT1):c.6177+11A>Gnot provided [RCV002900549]likely benign165853194758531947Humanname
155944400CV2143200single nucleotide variantNM_016284.5(CNOT1):c.1585-18C>Tnot provided [RCV002994258]likely benign165857660058576600Humanname
156022678CV2145384single nucleotide variantNM_016284.5(CNOT1):c.3829-20C>Anot provided [RCV003018305]likely benign165854651858546518Humanname
156319093CV2155261single nucleotide variantNM_016284.5(CNOT1):c.1980-11C>Tnot provided [RCV003011573]likely benign165856037358560373Humanname
155982308CV2163175single nucleotide variantNM_016284.5(CNOT1):c.6178-11C>Anot provided [RCV003033937]likely benign165853035858530358Humanname
156294390CV2166481single nucleotide variantNM_016284.5(CNOT1):c.6603+17T>Anot provided [RCV003045272]likely benign165852597258525972Humanname
156169354CV2184920single nucleotide variantNM_016284.5(CNOT1):c.2332+11G>Anot provided [RCV003057171]likely benign165855846258558462Humanname
156126314CV2185659single nucleotide variantNM_016284.5(CNOT1):c.4575+12G>Anot provided [RCV003055665]likely benign165854241658542416Humanname
405218317CV2873688single nucleotide variantNM_016284.5(CNOT1):c.4680+16C>Gnot provided [RCV003553511]likely benign165854221558542215Humanname
402491679CV2877737single nucleotide variantNM_016284.5(CNOT1):c.5415-14A>Gnot provided [RCV003545005]likely benign165853723458537234Humanname
402474213CV2919663deletionNM_016284.5(CNOT1):c.5895+14delnot provided [RCV003571145]likely benign165853413358534133Humanname
405064219CV2939874single nucleotide variantNM_016284.5(CNOT1):c.4435-20C>Gnot provided [RCV003659005]likely benign165854258858542588Humanname
405075409CV2940734single nucleotide variantNM_014516.4(CNOT3):c.1406+19G>Anot provided [RCV003659673]likely benign195414876254148762Humanname
405123518CV2942567single nucleotide variantNM_016284.5(CNOT1):c.3522+11G>Anot provided [RCV003671727]likely benign165854970858549708Humanname
402501329CV2943717single nucleotide variantNM_014516.4(CNOT3):c.2164-18G>Anot provided [RCV003661639]likely benign195415529154155291Humanname
405094700CV2947349single nucleotide variantNM_016284.5(CNOT1):c.5647-19T>Cnot provided [RCV003665546]likely benign165853441458534414Humanname
405155399CV2950815single nucleotide variantNM_016284.5(CNOT1):c.1045-19C>Gnot provided [RCV003670336]likely benign165858153458581534Humanname
405116254CV2953288single nucleotide variantNM_016284.5(CNOT1):c.1980-18T>Gnot provided [RCV003666951]likely benign165856038058560380Humanname
405143437CV2958957single nucleotide variantNM_016284.5(CNOT1):c.4137+15C>Tnot provided [RCV003673435]likely benign165854534658545346Humanname
402507245CV2978847single nucleotide variantNM_016284.5(CNOT1):c.3639+13T>Gnot provided [RCV003689183]likely benign165854755358547553Humanname
405062815CV3020570single nucleotide variantNM_014516.4(CNOT3):c.1283-17T>Cnot provided [RCV003697809]benign195414860354148603Humanname
405146028CV3023947single nucleotide variantNM_014516.4(CNOT3):c.1605+15C>Tnot provided [RCV003702937]likely benign195414977354149773Humanname
405170938CV3029381single nucleotide variantNM_016284.5(CNOT1):c.1585-14C>Gnot provided [RCV003704603]likely benign165857659658576596Humanname
405069185CV3030928single nucleotide variantNM_014516.4(CNOT3):c.1605+11C>Tnot provided [RCV003698131]likely benign195414976954149769Humanname
405183262CV3031955single nucleotide variantNM_016284.5(CNOT1):c.4435-15C>Tnot provided [RCV003705754]likely benign165854258358542583Humanname
402479002CV3033094single nucleotide variantNM_016284.5(CNOT1):c.3829-20C>Gnot provided [RCV003712630]likely benign165854651858546518Humanname
402479131CV3033113single nucleotide variantNM_016284.5(CNOT1):c.4575+20C>Anot provided [RCV003712645]likely benign165854240858542408Humanname
405235589CV3040797single nucleotide variantNM_016284.5(CNOT1):c.2480-19C>Anot provided [RCV003712202]likely benign165855592758555927Humanname
405225185CV3042111single nucleotide variantNM_016284.5(CNOT1):c.3751-15A>Tnot provided [RCV003710574]likely benign165854676458546764Humanname
405236113CV3079641single nucleotide variantNM_016284.5(CNOT1):c.3342+10C>Gnot provided [RCV003735931]benign165855112258551122Humanname
405049411CV3080128microsatelliteNM_016284.5(CNOT1):c.638-8TC[2]not provided [RCV003740485]likely benign165858550958585510Humanname
405285201CV3202568single nucleotide variantNM_016284.5(CNOT1):c.4434+79T>CCNOT1-related disorder [RCV003909825]likely benign165854352858543528Humanname , trait , alternate_id
405293061CV3207217single nucleotide variantNM_016284.5(CNOT1):c.4434+44G>CCNOT1-related disorder [RCV003931616]benign165854356358543563Humanname , trait , alternate_id
405270701CV3212093single nucleotide variantNM_014516.4(CNOT3):c.2038-10C>TCNOT3-related disorder [RCV003949466]likely benign195415370554153705Humanname , trait , alternate_id
405854309CV3392969single nucleotide variantNM_016284.5(CNOT1):c.4575+10T>Cnot specified [RCV004527126]likely benign165854241858542418Humanname
408366207CV3516873single nucleotide variantNM_016284.5(CNOT1):c.4434+12A>GCNOT1-related disorder [RCV004755688]likely benign165854359558543595Humanname , trait , alternate_id
597887618CV3787517single nucleotide variantNM_016284.5(CNOT1):c.4801-10T>Cnot provided [RCV005125083]likely benign165853996958539969Humanname
597894529CV3810069single nucleotide variantNM_016284.5(CNOT1):c.1584+14G>Tnot provided [RCV005151790]likely benign165857868558578685Humanname
597957251CV3814302single nucleotide variantNM_016284.5(CNOT1):c.1979+16A>Gnot provided [RCV005162633]likely benign165857459358574593Humanname
597940055CV3818776single nucleotide variantNM_016284.5(CNOT1):c.3201+13A>Gnot provided [RCV005158782]likely benign165855157658551576Humanname
597882652CV3822977single nucleotide variantNM_014516.4(CNOT3):c.1905-20C>Anot provided [RCV005178303]likely benign195415284754152847Humanname
597972553CV3823400single nucleotide variantNM_016284.5(CNOT1):c.6918-18C>Gnot provided [RCV005167496]likely benign165852133558521335Humanname
597876902CV3825701single nucleotide variantNM_016284.5(CNOT1):c.1979+14A>Gnot provided [RCV005177575]likely benign165857459558574595Humanname
597909550CV3830037single nucleotide variantNM_016284.5(CNOT1):c.1828-17A>Tnot provided [RCV005182606]likely benign165857477758574777Humanname
597893842CV3833485single nucleotide variantNM_016284.5(CNOT1):c.6280-13T>Gnot provided [RCV005180177]likely benign165852866158528661Humanname
598124950CV3885492single nucleotide variantNM_016284.5(CNOT1):c.3640-10C>Gnot specified [RCV005240070]likely benign165854730658547306Humanname
15177679CV731083single nucleotide variantNM_016284.5(CNOT1):c.2971-10A>TCNOT1-related disorder [RCV003920616]|not provided [RCV000884884]|not specified [RCV001817092]benign165855182958551829Human1name , alternate_id
150336290CV1172875single nucleotide variantNM_016284.5(CNOT1):c.1585-151C>Tnot provided [RCV001540926]benign165857673358576733Humanname
150443766CV1216539single nucleotide variantNM_016284.5(CNOT1):c.1343+200T>Gnot provided [RCV001610838]benign165858043358580433Humanname
150467836CV1220083duplicationNM_016284.5(CNOT1):c.4992+132dupnot provided [RCV001614574]benign165853962458539625Humanname
150499691CV1224636single nucleotide variantNM_016284.5(CNOT1):c.1045-164A>Tnot provided [RCV001620467]benign165858167958581679Humanname
150506984CV1226479single nucleotide variantNM_016284.5(CNOT1):c.3343-173T>Cnot provided [RCV001635847]benign165855007158550071Humanname
150509780CV1228788single nucleotide variantNM_016284.5(CNOT1):c.6604-151G>Anot provided [RCV001636573]benign165852551058525510Humanname
150430097CV1231972single nucleotide variantNM_016284.5(CNOT1):c.3523-135G>Anot provided [RCV001641234]benign165854781758547817Humanname
150493587CV1238699single nucleotide variantNM_016284.5(CNOT1):c.3201+124G>Tnot provided [RCV001655243]benign165855146558551465Humanname
150494800CV1241463single nucleotide variantNM_016284.5(CNOT1):c.1704+110G>Anot provided [RCV001655470]benign165857635358576353Humanname
150502924CV1241681single nucleotide variantNM_016284.5(CNOT1):c.4434+373T>Gnot provided [RCV001657272]benign165854323458543234Humanname
150457437CV1248784duplicationNM_016284.5(CNOT1):c.6604-204dupnot provided [RCV001668960]benign165852556258525563Humanname
150460099CV1253054single nucleotide variantNM_016284.5(CNOT1):c.4992+101A>Tnot provided [RCV001669382]benign165853966758539667Humanname
150491858CV1253830single nucleotide variantNM_016284.5(CNOT1):c.5415-185T>Cnot provided [RCV001674926]benign165853740558537405Humanname
150474282CV1263336single nucleotide variantNM_016284.5(CNOT1):c.4137+107T>Gnot provided [RCV001684858]benign165854525458545254Humanname
150499045CV1270755single nucleotide variantNM_016284.5(CNOT1):c.1045-159A>Tnot provided [RCV001689304]benign165858167458581674Humanname
150479465CV1273472single nucleotide variantNM_016284.5(CNOT1):c.6454-163C>Gnot provided [RCV001696676]benign165852630158526301Humanname
150493140CV1281695single nucleotide variantNM_016284.5(CNOT1):c.1045-163A>Gnot provided [RCV001716947]benign165858167858581678Humanname
150509025CV1284432single nucleotide variantNM_016284.5(CNOT1):c.4680+204G>Cnot provided [RCV001720540]benign165854202758542027Humanname
152999862CV1683409single nucleotide variantNM_016284.5(CNOT1):c.4434+161G>ASee cases [RCV002252593]uncertain significance165854344658543446Humanname
329954435CV2669119duplicationNM_016284.5(CNOT1):c.4434+196dupSee cases [RCV003232952]uncertain significance165854341058543411Humanname
401934492CV2807989single nucleotide variantNM_016284.5(CNOT1):c.4434+196C>Tnot provided [RCV003411361]likely benign165854341158543411Humanname
405292601CV3192917single nucleotide variantNM_016284.5(CNOT1):c.4434+153T>CCNOT1-related disorder [RCV003964638]likely benign165854345458543454Humanname , trait , alternate_id
405295471CV3204814single nucleotide variantNM_016284.5(CNOT1):c.4434+148T>GCNOT1-related disorder [RCV003937374]likely benign165854345958543459Humanname , trait , alternate_id
12896977CV390165deletionNM_016284.5(CNOT1):c.4434+195delnot provided [RCV001643146]|not specified [RCV000456075]benign165854341258543412Humanname
13827758CV578534duplicationNM_016284.5(CNOT1):c.4434+183dupnot provided [RCV000714767]benign165854341158543412Humanname
156179437CV2155324microsatelliteNM_014516.4(CNOT3):c.1407-12CT[3]not provided [RCV003005658]likely benign195414954854149549Humanname
597878644CV3825956microsatelliteNM_014516.4(CNOT3):c.2163+17CT[2]not provided [RCV005177830]likely benign195415385754153858Humanname
8590428CV125120single nucleotide variantNM_001008225.2(CNOT4):c.-92-8056T>GLung cancer [RCV000105639]uncertain significance7135446479135446479Humanname
156271579CV2136566microsatelliteNM_016284.5(CNOT1):c.6178-14TTTC[2]not provided [RCV003009285]likely benign165853035058530353Humanname
405239058CV2983286duplicationNM_016284.5(CNOT1):c.1216-8_1216-5dupnot provided [RCV003683624]likely benign165858076458580765Humanname
405206974CV3041943deletionNM_016284.5(CNOT1):c.309+17_309+22delnot provided [RCV003708034]likely benign165858775858587763Humanname
597953655CV3776463duplicationNM_016284.5(CNOT1):c.6060-23_6060-9dupnot provided [RCV005121591]uncertain significance165853208358532084Humanname
597875374CV3813109insertionNM_016284.5(CNOT1):c.1585-5_1585-4insGnot provided [RCV005149045]likely benign165857658658576587Humanname
597963810CV3841419deletionNM_016284.5(CNOT1):c.6918-12_6918-9delnot provided [RCV005193522]likely benign165852132658521329Humanname
150331068CV1169682duplicationNM_016284.5(CNOT1):c.102+166_102+168dupnot provided [RCV001536308]benign165859905058599051Humanname
150516323CV1228308deletionNM_016284.5(CNOT1):c.1980-76_1980-75delnot provided [RCV001639114]benign165856043758560438Humanname
150456895CV1269138deletionNM_016284.5(CNOT1):c.5415-43_5415-38delnot provided [RCV001692962]benign165853725858537263Humanname
9831918CV167116deletionNM_014515.7(CNOT2):c.48+7810_48+9760delNormal pregnancy [RCV000161682]not provided127028608470288034Humanname
9831919CV167117deletionNM_014515.7(CNOT2):c.48+8340_48+9761delNormal pregnancy [RCV000161683]not provided127028661370288034Humanname
156340698CV2179795deletionNM_016284.5(CNOT1):c.4006+12_4006+14delnot provided [RCV003030268]likely benign165854630758546309Humanname
405150690CV3031326deletionNM_014516.4(CNOT3):c.1606-15_1606-14delnot provided [RCV003703273]likely benign195415221154152212Humanname
597930962CV3827035microsatelliteNM_016284.5(CNOT1):c.4801-22_4801-19delnot provided [RCV005157048]likely benign165853997858539981Humanname
401911703CV2807990deletionNM_016284.5(CNOT1):c.4434+194_4434+195delCNOT1-related disorder [RCV003919128]|Holoprosencephaly 12 with or without pancreatic agenesis [RCV005356431]|not provided [RCV003426724]benign|likely benign|uncertain significance165854341258543413Human2name , alternate_id
405290866CV3197150duplicationNM_016284.5(CNOT1):c.4434+194_4434+195dupCNOT1-related disorder [RCV003984712]likely benign165854341158543412Humanname , trait , alternate_id
150453727CV1207357single nucleotide variantNM_016284.5(CNOT1):c.4716C>T (p.Tyr1572=)CNOT1-related disorder [RCV003983989]|Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588040]|Vissers-Bodmer syndrome [RCV001588041]|not provided [RCV001717835]benign165854158558541585Human2name , alternate_id
150458141CV1207362single nucleotide variantNM_016284.5(CNOT1):c.2919G>A (p.Gln973=)CNOT1-related disorder [RCV003980731]|Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588049]|Vissers-Bodmer syndrome [RCV001588050]|not provided [RCV001655924]benign165855383358553833Human2name , alternate_id
150481105CV1279663single nucleotide variantNM_016284.5(CNOT1):c.2859C>T (p.Phe953=)CNOT1-related disorder [RCV003976067]|not provided [RCV001714780]benign165855528358555283Human1name , alternate_id
152128616CV1549072single nucleotide variantNM_016284.5(CNOT1):c.896G>A (p.Arg299Gln)CNOT1-related disorder [RCV003978787]|not provided [RCV002099176]benign165858309358583093Human1name , alternate_id
152137692CV1603779single nucleotide variantNM_016284.5(CNOT1):c.6849C>T (p.Tyr2283=)CNOT1-related disorder [RCV003978577]|not provided [RCV002218945]benign165852343858523438Human1name , alternate_id
152121741CV1628653single nucleotide variantNM_014516.4(CNOT3):c.940C>T (p.Pro314Ser)CNOT3-related disorder [RCV003926279]|not provided [RCV002175673]benign|likely benign195414819354148193Human1name , alternate_id
152101811CV1667142single nucleotide variantNM_014516.4(CNOT3):c.207C>T (p.Asn69=)CNOT3-related disorder [RCV003960944]|not provided [RCV002214128]likely benign195414369854143698Human1name , alternate_id
153304926CV1687373single nucleotide variantNM_014516.4(CNOT3):c.1277C>T (p.Ala426Val)CNOT3-related disorder [RCV003933730]|not provided [RCV002263191]benign|likely benign195414853054148530Human1alternate_id
155644794CV1708805single nucleotide variantNM_016284.5(CNOT1):c.3811C>T (p.Gln1271Ter)CNOT1-related disorder [RCV004529123]likely pathogenic165854668958546689Humantrait , alternate_id
156414444CV1912297single nucleotide variantNM_016284.5(CNOT1):c.4497T>C (p.Asn1499=)CNOT1-related disorder [RCV003898829]|not provided [RCV002588615]likely benign165854250658542506Human1name , alternate_id
156133495CV2022839single nucleotide variantNM_016284.5(CNOT1):c.4734T>C (p.Asn1578=)CNOT1-related disorder [RCV003936303]|not provided [RCV002740649]likely benign165854156758541567Human1name , alternate_id
155913587CV2026002single nucleotide variantNM_014516.4(CNOT3):c.1606G>A (p.Ala536Thr)CNOT3-related disorder [RCV003943491]|Inborn genetic diseases [RCV002750314]|not provided [RCV002746199]benign|likely benign195415222654152226Human2alternate_id
156136389CV2032738single nucleotide variantNM_014516.4(CNOT3):c.1471T>G (p.Ser491Ala)CNOT3-related disorder [RCV003903765]|Inborn genetic diseases [RCV002740745]|not provided [RCV002740744]benign|likely benign195414962454149624Human2name , alternate_id
155953850CV2033270single nucleotide variantNM_014516.4(CNOT3):c.939C>T (p.His313=)CNOT3-related disorder [RCV003926441]|not provided [RCV002730822]likely benign195414819254148192Human1name , alternate_id
155956606CV2033451single nucleotide variantNM_014516.4(CNOT3):c.1188C>T (p.Ser396=)CNOT3-related disorder [RCV003936306]|not provided [RCV002730960]benign|likely benign195414844154148441Human1name , alternate_id
156160344CV2033804single nucleotide variantNM_014516.4(CNOT3):c.1527G>A (p.Thr509=)CNOT3-related disorder [RCV003916526]|not provided [RCV002741522]likely benign195414968054149680Human1name , alternate_id
156170299CV2075516single nucleotide variantNM_016284.5(CNOT1):c.4103C>T (p.Ala1368Val)CNOT1-related disorder [RCV003395523]|not provided [RCV002851508]uncertain significance165854539558545395Human1alternate_id
156164574CV2091624single nucleotide variantNM_016284.5(CNOT1):c.6611A>G (p.Asn2204Ser)CNOT1-related disorder [RCV003926469]|not provided [RCV002891126]benign165852535258525352Human1alternate_id
156204648CV2110215single nucleotide variantNM_016284.5(CNOT1):c.4857G>A (p.Leu1619=)CNOT1-related disorder [RCV003984289]|not provided [RCV002957508]benign165853990358539903Human1name , alternate_id
156196772CV2113719single nucleotide variantNM_016284.5(CNOT1):c.2841A>C (p.Gly947=)CNOT1-related disorder [RCV003916646]|not provided [RCV002957238]likely benign165855530158555301Human1name , alternate_id
156223018CV2115221single nucleotide variantNM_016284.5(CNOT1):c.2613A>G (p.Glu871=)CNOT1-related disorder [RCV003961214]|not provided [RCV002932532]benign|likely benign165855552958555529Human1name , alternate_id
155905424CV2134495single nucleotide variantNM_016284.5(CNOT1):c.432C>T (p.Phe144=)CNOT1-related disorder [RCV003916687]|not provided [RCV002967682]benign|likely benign165858720258587202Human1name , alternate_id
401919748CV2798382single nucleotide variantNM_014516.4(CNOT3):c.428A>C (p.Glu143Ala)CNOT3-related disorder [RCV003402351]uncertain significance195414427754144277Humanname , trait , alternate_id
401937616CV2798823single nucleotide variantNM_014516.4(CNOT3):c.1499T>C (p.Leu500Pro)CNOT3-related disorder [RCV003416680]uncertain significance195414965254149652Humanname , trait , alternate_id
401902872CV2799748single nucleotide variantNM_014516.4(CNOT3):c.1685C>T (p.Thr562Met)CNOT3-related disorder [RCV003419121]uncertain significance195415230554152305Humanname , trait , alternate_id
401906065CV2802296duplicationNM_016284.5(CNOT1):c.2751dup (p.Gly918fs)CNOT1-related disorder [RCV003421002]likely pathogenic165855539058555391Humanname , trait , alternate_id
401936187CV2802806single nucleotide variantNM_014516.4(CNOT3):c.169C>G (p.Arg57Gly)CNOT3-related disorder [RCV003414162]likely pathogenic195414366054143660Humanname , trait , alternate_id
401926239CV2803506single nucleotide variantNM_016284.5(CNOT1):c.115C>T (p.His39Tyr)CNOT1-related disorder [RCV003405890]uncertain significance165858889458588894Humanname , trait , alternate_id
401901745CV2804569single nucleotide variantNM_014515.7(CNOT2):c.40A>C (p.Asn14His)CNOT2-related disorder [RCV003393179]uncertain significance127027826670278266Humanname , trait , alternate_id
401902997CV2804778single nucleotide variantNM_014516.4(CNOT3):c.2128G>A (p.Glu710Lys)CNOT3-related disorder [RCV003394317]uncertain significance195415380554153805Humanname , trait , alternate_id
404984877CV2849839single nucleotide variantNM_014516.4(CNOT3):c.1752G>A (p.Pro584=)CNOT3-related disorder [RCV003966451]|Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003492974]|not provided [RCV003708826]likely benign|uncertain significance195415247454152474Human1name , alternate_id
405022386CV2877516single nucleotide variantNM_016284.5(CNOT1):c.1525A>G (p.Ile509Val)CNOT1-related disorder [RCV003946647]|Inborn genetic diseases [RCV004368985]|not provided [RCV003577714]likely benign|uncertain significance165857875858578758Human2name , alternate_id
405235889CV2887740single nucleotide variantNM_016284.5(CNOT1):c.4434T>A (p.Arg1478=)CNOT1-related disorder [RCV003939091]|not provided [RCV003556387]benign165854360758543607Human1name , alternate_id
405165351CV3018768single nucleotide variantNM_014516.4(CNOT3):c.1962C>T (p.Pro654=)CNOT3-related disorder [RCV003929294]|not provided [RCV003704264]benign|likely benign195415292454152924Human1name , alternate_id
405123099CV3020842single nucleotide variantNM_014516.4(CNOT3):c.201G>A (p.Ala67=)CNOT3-related disorder [RCV003909095]|not provided [RCV003700867]likely benign195414369254143692Human1name , alternate_id
405177735CV3027480single nucleotide variantNM_014516.4(CNOT3):c.1686G>A (p.Thr562=)CNOT3-related disorder [RCV003919323]|not provided [RCV003705245]likely benign195415230654152306Human1name , alternate_id
405179256CV3027664single nucleotide variantNM_014516.4(CNOT3):c.1473A>G (p.Ser491=)CNOT3-related disorder [RCV003909093]|not provided [RCV003705374]benign|likely benign195414962654149626Human1name , alternate_id
405134040CV3051854single nucleotide variantNM_016284.5(CNOT1):c.2520T>C (p.Phe840=)CNOT1-related disorder [RCV003948966]|not provided [RCV003725083]likely benign165855586858555868Human1name , alternate_id
405283266CV3191309single nucleotide variantNM_016284.5(CNOT1):c.6673C>G (p.Gln2225Glu)CNOT1-related disorder [RCV003921707]uncertain significance165852529058525290Humantrait , alternate_id
405259380CV3194793single nucleotide variantNM_014516.4(CNOT3):c.882T>G (p.Ser294Arg)CNOT3-related disorder [RCV003894181]uncertain significance195414664554146645Humanname , trait , alternate_id
405274117CV3195037single nucleotide variantNM_014516.4(CNOT3):c.438G>A (p.Val146=)CNOT3-related disorder [RCV003902278]likely benign195414428754144287Humanname , trait , alternate_id
405288318CV3197326single nucleotide variantNM_014516.4(CNOT3):c.1698C>G (p.Thr566=)CNOT3-related disorder [RCV003982422]likely benign195415231854152318Humanname , trait , alternate_id
405258302CV3203233single nucleotide variantNM_014516.4(CNOT3):c.537C>T (p.His179=)CNOT3-related disorder [RCV003941830]likely benign195414565154145651Humanname , trait , alternate_id
405274405CV3211746single nucleotide variantNM_014516.4(CNOT3):c.819C>T (p.Ser273=)CNOT3-related disorder [RCV003951545]likely benign195414602554146025Humanname , trait , alternate_id
405265974CV3215827single nucleotide variantNM_014516.4(CNOT3):c.1154C>T (p.Thr385Met)CNOT3-related disorder [RCV003946974]|not provided [RCV005101864]likely benign195414840754148407Human1name , alternate_id
405295465CV3216095microsatelliteNM_014516.4(CNOT3):c.1191AGGCGG[3] (p.Gly402_Ser403insGlyGly)CNOT3-related disorder [RCV003937414]|Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004794668]|not provided [RCV005102904]benign|uncertain significance195414843954148440Humanalternate_id
405278581CV3216684single nucleotide variantNM_016284.5(CNOT1):c.3560C>T (p.Ser1187Leu)CNOT1-related disorder [RCV003954575]uncertain significance165854764558547645Humantrait , alternate_id
405279366CV3217433single nucleotide variantNM_014515.7(CNOT2):c.285G>A (p.Gln95=)CNOT2-related disorder [RCV003976851]likely benign127032946970329469Humanname , trait , alternate_id
405283378CV3218592single nucleotide variantNM_014516.4(CNOT3):c.1935G>A (p.Thr645=)CNOT3-related disorder [RCV003957370]likely benign195415289754152897Humanname , trait , alternate_id
405289877CV3219131single nucleotide variantNM_016284.5(CNOT1):c.162T>C (p.His54=)CNOT1-related disorder [RCV003962061]likely benign165858884758588847Humanname , trait , alternate_id
408384817CV3503651single nucleotide variantNM_016284.5(CNOT1):c.6637C>T (p.Gln2213Ter)CNOT1-related disorder [RCV004732138]likely pathogenic165852532658525326Humantrait , alternate_id
408383673CV3507072microsatelliteNM_014516.4(CNOT3):c.2014TTC[1] (p.Phe673del)CNOT3-related disorder [RCV004730802]pathogenic195415297454152976Humantrait , alternate_id
408365599CV3507479single nucleotide variantNM_016284.5(CNOT1):c.681A>C (p.Leu227Phe)CNOT1-related disorder [RCV004755075]uncertain significance165858546358585463Humanname , trait , alternate_id
408365613CV3508490single nucleotide variantNM_016284.5(CNOT1):c.568T>G (p.Phe190Val)CNOT1-related disorder [RCV004755143]uncertain significance165858661458586614Humanname , trait , alternate_id
408377567CV3509385single nucleotide variantNM_014516.4(CNOT3):c.1406C>G (p.Ser469Trp)CNOT3-related disorder [RCV004751085]uncertain significance195414874354148743Humanname , trait , alternate_id
408378651CV3515001single nucleotide variantNM_014516.4(CNOT3):c.242G>A (p.Arg81His)CNOT3-related disorder [RCV004752372]uncertain significance195414373354143733Humanname , trait , alternate_id
408366793CV3516871single nucleotide variantNM_014515.7(CNOT2):c.269G>A (p.Ser90Asn)CNOT2-related disorder [RCV004757033]uncertain significance127032945370329453Humanname , trait , alternate_id
408380509CV3517997single nucleotide variantNM_016284.5(CNOT1):c.6610A>G (p.Asn2204Asp)CNOT1-related disorder [RCV004754222]uncertain significance165852535358525353Humantrait , alternate_id
15040335CV682788indelNM_014516.4(CNOT3):c.732dup (p.Ser245fs)CNOT3-related disorder [RCV004751757]|Inborn genetic diseases [RCV004973028]|Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV000856720]pathogenic|likely pathogenic|uncertain significance195414593054145931Humanname , alternate_id
15173653CV703763single nucleotide variantNM_016284.5(CNOT1):c.4439C>T (p.Ala1480Val)CNOT1-related disorder [RCV003943022]|Inborn genetic diseases [RCV002546021]|not provided [RCV000950252]benign|likely benign165854256458542564Human2alternate_id
15156318CV715002single nucleotide variantNM_016284.5(CNOT1):c.5829T>C (p.Ile1943=)CNOT1-related disorder [RCV003928455]|not provided [RCV000969090]benign165853421358534213Human1name , alternate_id
15170319CV726720single nucleotide variantNM_016284.5(CNOT1):c.1029C>T (p.Asp343=)CNOT1-related disorder [RCV003940473]|not provided [RCV000883448]benign165858280858582808Human1name , alternate_id
38463943CV961328single nucleotide variantNM_016284.5(CNOT1):c.3265G>C (p.Val1089Leu)CNOT1-related disorder [RCV004545818]|not provided [RCV001773568]uncertain significance|not provided165855120958551209Human1alternate_id
38463940CV961329single nucleotide variantNM_016284.5(CNOT1):c.3113C>T (p.Thr1038Ile)CNOT1-related disorder [RCV004545817]|not provided [RCV001773567]uncertain significance|not provided165855167758551677Human1alternate_id
405236641CV2973491single nucleotide variantNM_016284.5(CNOT1):c.21G>T (p.Ser7=)not provided [RCV003683192]likely benign165859931758599317Humanname
152158861CV1544289variationNM_014516.4(CNOT3):c.729= (p.Pro243=)not provided [RCV002122838]benign195414593554145935Humanname
155955102CV1936290single nucleotide variantNM_014516.4(CNOT3):c.96C>T (p.Leu32=)not provided [RCV002511954]likely benign195414344454143444Humanname
156149620CV2128607single nucleotide variantNM_016284.5(CNOT1):c.84C>T (p.Ser28=)not provided [RCV002928856]benign165859925458599254Humanname
405144926CV3027387single nucleotide variantNM_014516.4(CNOT3):c.57C>T (p.Ser19=)not provided [RCV003702836]likely benign195414315054143150Humanname
408391292CV3521283single nucleotide variantNM_014515.7(CNOT2):c.7A>G (p.Arg3Gly)not provided [RCV004763105]uncertain significance127027823370278233Humanname
38598868CV964893single nucleotide variantNM_014516.4(CNOT3):c.93G>A (p.Lys31=)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV001254143]likely pathogenic195414318654143186Human1name
150505140CV1213456single nucleotide variantNM_014516.4(CNOT3):c.1215= (p.Gly405=)not provided [RCV001595712]benign195414846854148468Humanname
156217392CV1910727single nucleotide variantNM_016284.5(CNOT1):c.159G>A (p.Ser53=)not provided [RCV002596325]likely benign165858885058588850Humanname
156078403CV2025824single nucleotide variantNM_014516.4(CNOT3):c.114G>A (p.Ala38=)not provided [RCV002760544]benign|likely benign195414346254143462Humanname
156393692CV2181637single nucleotide variantNM_014516.4(CNOT3):c.174G>A (p.Leu58=)not provided [RCV003051609]likely benign195414366554143665Humanname
155990838CV2276514single nucleotide variantNM_013354.7(CNOT7):c.19G>T (p.Asp7Tyr)not specified [RCV004144227]uncertain significance81724513417245134Humanname
156319993CV2400229single nucleotide variantNM_013354.7(CNOT7):c.14C>T (p.Thr5Ile)not specified [RCV004243021]uncertain significance81724513917245139Humanname
401772218CV2687452duplicationNM_014516.4(CNOT3):c.76dup (p.Glu26fs)Inborn genetic diseases [RCV003284968]pathogenic195414316854143169Human1name
405267861CV3186924single nucleotide variantNM_014516.4(CNOT3):c.213C>A (p.Ile71=)not provided [RCV003887007]likely benign195414370454143704Humanname
405674111CV3304588single nucleotide variantNM_017546.5(CNOT11):c.5C>T (p.Pro2Leu)not specified [RCV004441973]uncertain significance2101252969101252969Humanname
407495945CV3496583single nucleotide variantNM_014516.4(CNOT3):c.26G>A (p.Gly9Asp)not provided [RCV004696784]uncertain significance195414311954143119Humanname
596946876CV3546933single nucleotide variantNM_014516.4(CNOT3):c.25G>C (p.Gly9Arg)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810739]likely pathogenic195414300354143003Human1name
596946894CV3546951single nucleotide variantNM_014516.4(CNOT3):c.258G>A (p.Thr86=)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810757]likely pathogenic195414374954143749Human1name
597798987CV3653963single nucleotide variantNM_015442.3(CNOT10):c.4G>A (p.Ala2Thr)not specified [RCV004904977]uncertain significance33268546432685464Humanname
597863102CV3813574single nucleotide variantNM_016284.5(CNOT1):c.159G>T (p.Ser53=)not provided [RCV005146836]likely benign165858885058588850Humanname
597976357CV3829575single nucleotide variantNM_014516.4(CNOT3):c.111C>T (p.Asn37=)not provided [RCV005169842]likely benign195414345954143459Humanname
150468093CV1207363single nucleotide variantNM_016284.5(CNOT1):c.909A>G (p.Gly303=)Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588051]|Vissers-Bodmer syndrome [RCV001588052]|not provided [RCV001619991]benign165858308058583080Human2name
150528623CV1288412single nucleotide variantNM_014515.7(CNOT2):c.95G>A (p.Gly32Glu)Inborn genetic diseases [RCV002539758]|not provided [RCV001726880]likely benign127031094170310941Human1name
152093383CV1593430single nucleotide variantNM_016284.5(CNOT1):c.660C>T (p.Pro220=)not provided [RCV002094502]likely benign165858548458585484Humanname
155265107CV1695478single nucleotide variantNM_016284.5(CNOT1):c.83G>C (p.Ser28Thr)not provided [RCV002280041]uncertain significance165859925558599255Humanname
156353893CV1933118single nucleotide variantNM_016284.5(CNOT1):c.927A>G (p.Pro309=)not provided [RCV002651114]likely benign165858306258583062Humanname
156030349CV2022629single nucleotide variantNM_014516.4(CNOT3):c.594C>T (p.Asp198=)not provided [RCV002735782]benign|likely benign195414570854145708Humanname
156134244CV2022870single nucleotide variantNM_014516.4(CNOT3):c.657C>T (p.Phe219=)not provided [RCV002740674]benign|likely benign195414577154145771Humanname
156179757CV2023284single nucleotide variantNM_014516.4(CNOT3):c.975C>T (p.Ser325=)not provided [RCV002765579]likely benign195414822854148228Humanname
156028058CV2025825single nucleotide variantNM_014516.4(CNOT3):c.726C>A (p.Ser242=)not provided [RCV002735685]benign|likely benign195414593254145932Humanname
155913721CV2026050single nucleotide variantNM_014516.4(CNOT3):c.474C>T (p.Gly158=)not provided [RCV002750323]benign195414432354144323Humanname
156249319CV2029541single nucleotide variantNM_016284.5(CNOT1):c.948G>A (p.Pro316=)not provided [RCV002745936]uncertain significance165858288958582889Humanname
156138282CV2032812single nucleotide variantNM_014516.4(CNOT3):c.729C>T (p.Pro243=)not provided [RCV002740807]uncertain significance195414593554145935Humanname
155963896CV2034094single nucleotide variantNM_014516.4(CNOT3):c.693C>T (p.Leu231=)not provided [RCV002731303]benign195414580754145807Humanname
156090320CV2034374single nucleotide variantNM_014516.4(CNOT3):c.417G>A (p.Val139=)not provided [RCV002760920]likely benign195414426654144266Humanname
156060738CV2034523single nucleotide variantNM_014516.4(CNOT3):c.711G>A (p.Ala237=)not provided [RCV002736829]likely benign195414591754145917Humanname
155927870CV2041583single nucleotide variantNM_014516.4(CNOT3):c.489G>A (p.Gln163=)not provided [RCV002751016]likely benign195414560354145603Humanname
155951051CV2084508single nucleotide variantNM_014516.4(CNOT3):c.732C>A (p.Pro244=)not provided [RCV002880503]likely benign195414593854145938Humanname
156106407CV2089111single nucleotide variantNM_016284.5(CNOT1):c.94A>G (p.Ile32Val)not provided [RCV002848272]uncertain significance165859924458599244Humanname
156199214CV2092413single nucleotide variantNM_016284.5(CNOT1):c.630G>A (p.Leu210=)not provided [RCV002917726]likely benign165858655258586552Humanname
156370395CV2171096single nucleotide variantNM_014516.4(CNOT3):c.561G>C (p.Leu187=)not provided [RCV003032180]likely benign195414567554145675Humanname
401911706CV2807994single nucleotide variantNM_016284.5(CNOT1):c.858A>T (p.Thr286=)not provided [RCV003426726]likely benign165858313158583131Humanname
401911707CV2807995single nucleotide variantNM_016284.5(CNOT1):c.669C>T (p.Leu223=)not provided [RCV003426727]likely benign165858547558585475Humanname
401903315CV2807996single nucleotide variantNM_016284.5(CNOT1):c.480C>T (p.Tyr160=)not provided [RCV003419350]likely benign165858670258586702Humanname
401929176CV2818742single nucleotide variantNM_014516.4(CNOT3):c.519C>T (p.Ile173=)not provided [RCV003407103]likely benign195414563354145633Humanname
405057690CV3019672single nucleotide variantNM_014516.4(CNOT3):c.651C>T (p.Pro217=)not provided [RCV003697457]benign195414576554145765Humanname
405145667CV3023905single nucleotide variantNM_014516.4(CNOT3):c.780G>A (p.Thr260=)not provided [RCV003702909]likely benign195414598654145986Humanname
405068468CV3030992single nucleotide variantNM_016284.5(CNOT1):c.486C>T (p.Asp162=)not provided [RCV003698176]likely benign165858669658586696Humanname
402486646CV3033987single nucleotide variantNM_014516.4(CNOT3):c.396C>T (p.Ile132=)not provided [RCV003713359]likely benign195414424554144245Humanname
405225588CV3058483single nucleotide variantNM_016284.5(CNOT1):c.621T>C (p.Leu207=)not provided [RCV003733985]likely benign165858656158586561Humanname
407470665CV3425728single nucleotide variantNM_013354.7(CNOT7):c.88G>A (p.Val30Ile)not specified [RCV004615504]uncertain significance81724506517245065Humanname
408383774CV3519984single nucleotide variantNM_014516.4(CNOT3):c.37C>T (p.Arg13Cys)not provided [RCV004759805]uncertain significance195414313054143130Humanname
408380712CV3523636single nucleotide variantNM_016284.5(CNOT1):c.59T>C (p.Leu20Ser)not provided [RCV004766034]uncertain significance165859927958599279Humanname
596946892CV3546949single nucleotide variantNM_014516.4(CNOT3):c.70C>T (p.Gln24Ter)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810755]pathogenic195414316354143163Human1name
596946893CV3546950single nucleotide variantNM_014516.4(CNOT3):c.91A>T (p.Lys31Ter)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810756]pathogenic195414318454143184Human1name
597858110CV3822356single nucleotide variantNM_014516.4(CNOT3):c.720C>T (p.Ala240=)not provided [RCV005174654]likely benign195414592654145926Humanname
597892481CV3822850single nucleotide variantNM_016284.5(CNOT1):c.357C>T (p.Leu119=)not provided [RCV005179926]likely benign165858736658587366Humanname
597881830CV3822951single nucleotide variantNM_014516.4(CNOT3):c.729C>A (p.Pro243=)not provided [RCV005178277]uncertain significance195414593554145935Humanname
597903346CV3845931single nucleotide variantNM_016284.5(CNOT1):c.874A>C (p.Arg292=)not provided [RCV005181553]likely benign165858311558583115Humanname
597831629CV3863882duplicationNM_014515.7(CNOT2):c.*23dup (p.Ter541=)Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies [RCV005208296]uncertain significance127035391370353914Human1name
617153614CV4016688single nucleotide variantNM_014516.4(CNOT3):c.97C>T (p.His33Tyr)not provided [RCV005415785]uncertain significance195414344554143445Humanname
40816260CV966898single nucleotide variantNM_016284.5(CNOT1):c.76C>T (p.Arg26Ter)Inborn genetic diseases [RCV003382493]|See cases [RCV001420342]|Vissers-Bodmer syndrome [RCV001257577]pathogenic165859926258599262Human2name
40816261CV966899single nucleotide variantNM_016284.5(CNOT1):c.97C>T (p.Gln33Ter)Vissers-Bodmer syndrome [RCV001257578]pathogenic165859924158599241Human1name
152159086CV1544333single nucleotide variantNM_014516.4(CNOT3):c.2010A>T (p.Thr670=)not provided [RCV002122874]benign195415297254152972Humanname
152043853CV1637751single nucleotide variantNM_014516.4(CNOT3):c.1698C>T (p.Thr566=)not provided [RCV002144852]likely benign195415231854152318Humanname
152154531CV1667925single nucleotide variantNM_016284.5(CNOT1):c.158C>T (p.Ser53Leu)not provided [RCV002221818]uncertain significance165858885158588851Humanname
155268654CV1705481single nucleotide variantNM_016284.5(CNOT1):c.281C>T (p.Ala94Val)not provided [RCV002286086]uncertain significance165858780858587808Humanname
155268974CV1705804single nucleotide variantNM_005444.3(CNOT9):c.136C>G (p.Arg46Gly)CNOT9-associated neurodevelopmental disorder [RCV002286459]likely pathogenic2218580672218580672Humanname
155710450CV1770635single nucleotide variantNM_014516.4(CNOT3):c.241C>A (p.Arg81Ser)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV002302842]likely pathogenic195414373254143732Human1name
155794887CV1861111deletionNM_016284.5(CNOT1):c.550del (p.Leu184fs)Vissers-Bodmer syndrome [RCV002468824]likely pathogenic165858663258586632Human1name
156154178CV2023218single nucleotide variantNM_016284.5(CNOT1):c.2382T>A (p.Leu794=)not provided [RCV002741319]likely benign165855694458556944Humanname
155918371CV2030130single nucleotide variantNM_016284.5(CNOT1):c.2991G>A (p.Gln997=)not provided [RCV002750581]likely benign165855179958551799Humanname
156136053CV2032726single nucleotide variantNM_014516.4(CNOT3):c.1275C>T (p.Gly425=)not provided [RCV002740733]likely benign195414852854148528Humanname
156218486CV2035603single nucleotide variantNM_016284.5(CNOT1):c.112C>T (p.Arg38Trp)not provided [RCV002766898]uncertain significance165858889758588897Humanname
156194310CV2038144single nucleotide variantNM_016284.5(CNOT1):c.1998A>G (p.Leu666=)not provided [RCV002766011]likely benign165856034458560344Humanname
156061249CV2044856single nucleotide variantNM_016284.5(CNOT1):c.1773T>G (p.Arg591=)not provided [RCV002736846]likely benign165857506158575061Humanname
155925935CV2045180single nucleotide variantNM_016284.5(CNOT1):c.2079A>G (p.Pro693=)not provided [RCV002750930]likely benign165856026358560263Humanname
156337327CV2095942single nucleotide variantNM_014516.4(CNOT3):c.1038C>T (p.Pro346=)not provided [RCV002900279]likely benign195414829154148291Humanname
156250603CV2098017single nucleotide variantNM_014516.4(CNOT3):c.1665C>T (p.Gly555=)not provided [RCV002895245]likely benign195415228554152285Humanname
156303699CV2105111single nucleotide variantNM_016284.5(CNOT1):c.2949A>G (p.Gln983=)not provided [RCV002922709]likely benign165855380358553803Humanname
156021503CV2105741single nucleotide variantNM_016284.5(CNOT1):c.2892A>G (p.Arg964=)not provided [RCV002923087]uncertain significance165855386058553860Humanname
156227394CV2115410single nucleotide variantNM_014516.4(CNOT3):c.1176C>T (p.Ser392=)not provided [RCV002918801]likely benign195414842954148429Humanname
156272168CV2136603single nucleotide variantNM_014516.4(CNOT3):c.1281C>T (p.Thr427=)not provided [RCV003009306]uncertain significance195414853454148534Humanname
155966401CV2142567single nucleotide variantNM_016284.5(CNOT1):c.236C>T (p.Ala79Val)Inborn genetic diseases [RCV004065220]|not provided [RCV002995408]likely benign|uncertain significance165858785358587853Human1name
156031454CV2156459single nucleotide variantNM_016284.5(CNOT1):c.2070A>G (p.Gly690=)not provided [RCV003018693]likely benign165856027258560272Humanname
155931680CV2156686single nucleotide variantNM_016284.5(CNOT1):c.2985A>G (p.Gly995=)not provided [RCV003013667]likely benign165855180558551805Humanname
156352627CV2157714single nucleotide variantNM_016284.5(CNOT1):c.1875T>G (p.Pro625=)not provided [RCV003030991]likely benign165857471358574713Humanname
156247033CV2174335single nucleotide variantNM_014516.4(CNOT3):c.2169C>G (p.Thr723=)not provided [RCV003043653]likely benign195415531454155314Humanname
156110498CV2177326single nucleotide variantNM_016284.5(CNOT1):c.1686T>C (p.Asp562=)not provided [RCV003055072]likely benign165857648158576481Humanname
156334332CV2191622single nucleotide variantNM_016284.5(CNOT1):c.1671G>A (p.Leu557=)not provided [RCV003063876]likely benign165857649658576496Humanname
156334564CV2191670single nucleotide variantNM_014516.4(CNOT3):c.1407G>A (p.Ser469=)not provided [RCV003063889]uncertain significance195414956054149560Humanname
156246941CV2196306single nucleotide variantNM_144571.3(CNOT6L):c.89A>C (p.Asn30Thr)not specified [RCV004073651]uncertain significance47777630977776309Humanname
156283195CV2288880single nucleotide variantNM_014516.4(CNOT3):c.137C>G (p.Ala46Gly)Inborn genetic diseases [RCV002878331]uncertain significance195414348554143485Human1name
329953729CV2668548single nucleotide variantNM_005444.3(CNOT9):c.137G>A (p.Arg46Gln)not provided [RCV003230201]uncertain significance2218580673218580673Humanname
401720171CV2737189deletionNM_014516.4(CNOT3):c.566del (p.Met189fs)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003314128]pathogenic195414568054145680Human1name
401865557CV2749269single nucleotide variantNM_016284.5(CNOT1):c.225T>G (p.Ile75Met)not specified [RCV003330467]uncertain significance165858786458587864Humanname
401879317CV2791394single nucleotide variantNM_013354.7(CNOT7):c.170A>G (p.Asn57Ser)not specified [RCV004358793]uncertain significance81724313317243133Humanname
401929182CV2818746single nucleotide variantNM_014516.4(CNOT3):c.1959A>C (p.Pro653=)not provided [RCV003407105]likely benign195415292154152921Humanname
401943408CV2840031single nucleotide variantNM_014515.7(CNOT2):c.145A>G (p.Met49Val)Inborn genetic diseases [RCV004364725]|not provided [RCV003456818]likely benign127031099170310991Human1name
404983403CV2849836single nucleotide variantNM_016284.5(CNOT1):c.287A>G (p.Asp96Gly)not provided [RCV003490578]uncertain significance165858780258587802Humanname
405192748CV2872103single nucleotide variantNM_016284.5(CNOT1):c.2811T>C (p.Tyr937=)not provided [RCV003550489]likely benign165855533158555331Humanname
405227055CV2888972single nucleotide variantNM_014516.4(CNOT3):c.1128C>T (p.Ala376=)not provided [RCV003554845]likely benign195414838154148381Humanname
402521168CV2902631single nucleotide variantNM_014516.4(CNOT3):c.1590C>A (p.Thr530=)not provided [RCV003575787]likely benign195414974354149743Humanname
405065449CV2939913single nucleotide variantNM_016284.5(CNOT1):c.193G>T (p.Gly65Cys)not provided [RCV003659023]uncertain significance165858881658588816Humanname
405072115CV2940941single nucleotide variantNM_014516.4(CNOT3):c.1932G>A (p.Pro644=)not provided [RCV003663938]likely benign195415289454152894Humanname
402496994CV2942829single nucleotide variantNM_014516.4(CNOT3):c.1611T>C (p.Pro537=)not provided [RCV003661169]likely benign195415223154152231Humanname
404993615CV2995940single nucleotide variantNM_016284.5(CNOT1):c.2955A>G (p.Pro985=)not provided [RCV003692526]likely benign165855379758553797Humanname
402522823CV3011384single nucleotide variantNM_014516.4(CNOT3):c.153G>T (p.Glu51Asp)not provided [RCV003716562]uncertain significance195414350154143501Humanname
405124139CV3021118single nucleotide variantNM_014516.4(CNOT3):c.1914C>T (p.Leu638=)Inborn genetic diseases [RCV005323532]|not provided [RCV003701070]likely benign195415287654152876Human1name
405125869CV3021253single nucleotide variantNM_014516.4(CNOT3):c.1434G>A (p.Thr478=)not provided [RCV003701159]likely benign195414958754149587Humanname
405147627CV3024051single nucleotide variantNM_016284.5(CNOT1):c.1761A>G (p.Ala587=)not provided [RCV003702998]likely benign165857507358575073Humanname
405144091CV3027267single nucleotide variantNM_014516.4(CNOT3):c.1860C>T (p.Ala620=)not provided [RCV003702769]likely benign195415258254152582Humanname
405150506CV3031311single nucleotide variantNM_014516.4(CNOT3):c.2001G>A (p.Ser667=)not provided [RCV003703260]likely benign195415296354152963Humanname
405197751CV3032579single nucleotide variantNM_014516.4(CNOT3):c.1422G>A (p.Ala474=)not provided [RCV003707064]likely benign195414957554149575Humanname
405197382CV3032599single nucleotide variantNM_016284.5(CNOT1):c.2655A>G (p.Arg885=)not provided [RCV003707076]likely benign165855548758555487Humanname
405221592CV3038592single nucleotide variantNM_014516.4(CNOT3):c.2181T>C (p.Phe727=)not provided [RCV003710054]likely benign195415532654155326Humanname
405185147CV3040351single nucleotide variantNM_014516.4(CNOT3):c.1464G>C (p.Gly488=)not provided [RCV003705945]likely benign195414961754149617Humanname
405185648CV3040416single nucleotide variantNM_016284.5(CNOT1):c.2895G>A (p.Leu965=)not provided [RCV003705989]likely benign165855385758553857Humanname
405212306CV3063196single nucleotide variantNM_016284.5(CNOT1):c.1578T>C (p.His526=)not provided [RCV003732181]likely benign165857870558578705Humanname
405214406CV3078466single nucleotide variantNM_016284.5(CNOT1):c.1869G>A (p.Arg623=)not provided [RCV003732444]likely benign165857471958574719Humanname
405234345CV3155499single nucleotide variantNM_016284.5(CNOT1):c.1977A>G (p.Ala659=)not provided [RCV003853477]likely benign165857461158574611Humanname
405674083CV3304581single nucleotide variantNM_015442.3(CNOT10):c.29G>A (p.Gly10Glu)not specified [RCV004441966]uncertain significance33270387432703874Humanname
405674120CV3304590single nucleotide variantNM_014515.7(CNOT2):c.158G>A (p.Arg53Gln)Inborn genetic diseases [RCV004441975]uncertain significance127031100470311004Human1name
405674124CV3304591single nucleotide variantNM_014515.7(CNOT2):c.253C>G (p.Pro85Ala)Inborn genetic diseases [RCV004441976]uncertain significance127032943770329437Human1name
405674238CV3304616single nucleotide variantNM_001370472.1(CNOT6):c.5C>T (p.Pro2Leu)not specified [RCV004442001]uncertain significance5180529281180529281Humanname
405867788CV3396608single nucleotide variantNM_014516.4(CNOT3):c.1116C>G (p.Ala372=)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004560479]uncertain significance195414836954148369Human1name
407425112CV3409358single nucleotide variantNM_014516.4(CNOT3):c.2127C>T (p.His709=)not provided [RCV004585289]likely benign195415380454153804Humanname
407425179CV3409392single nucleotide variantNM_014516.4(CNOT3):c.1788G>A (p.Ser596=)not provided [RCV004585323]likely benign195415251054152510Humanname
407427276CV3410573single nucleotide variantNM_016284.5(CNOT1):c.259T>C (p.Phe87Leu)not specified [RCV004586220]uncertain significance165858783058587830Humanname
407470642CV3425723single nucleotide variantNM_001190850.2(CNOT4):c.7C>T (p.Arg3Cys)not specified [RCV004615499]uncertain significance7135438325135438325Humanname
407573912CV3498261single nucleotide variantNM_014516.4(CNOT3):c.1122T>C (p.Ala374=)not specified [RCV004702735]likely benign195414837554148375Humanname
408369599CV3502818single nucleotide variantNM_014516.4(CNOT3):c.215A>G (p.Lys72Arg)not provided [RCV004723939]uncertain significance195414370654143706Humanname
408381945CV3526652single nucleotide variantNM_014516.4(CNOT3):c.206A>C (p.Asn69Thr)not provided [RCV004771965]uncertain significance195414369754143697Humanname
596931682CV3531939single nucleotide variantNM_005444.3(CNOT9):c.171G>T (p.Trp57Cys)not provided [RCV004781501]uncertain significance2218580707218580707Humanname
596946877CV3546934deletionNM_014516.4(CNOT3):c.586del (p.Leu196fs)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810740]pathogenic195414569954145699Human1name
596946895CV3546952single nucleotide variantNM_014516.4(CNOT3):c.286C>T (p.Arg96Ter)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810758]pathogenic|likely pathogenic195414403354144033Human1name
596947753CV3547336single nucleotide variantNM_016284.5(CNOT1):c.2586A>G (p.Pro862=)not provided [RCV004811640]benign|likely benign165855580258555802Humanname
12835402CV363405single nucleotide variantNM_005444.3(CNOT9):c.259T>C (p.Ser87Pro)Gastric adenocarcinoma [RCV000422236]|Hepatocellular carcinoma [RCV000431838]|Malignant melanoma of skin [RCV000431636]|Prostate adenocarcinoma [RCV000438382]|Transitional cell carcinoma of the bladder [RCV000421602]likely pathogenic2218583025218583025Human4name
12838083CV363406single nucleotide variantNM_005444.3(CNOT9):c.260C>G (p.Ser87Cys)Gastric adenocarcinoma [RCV000434591]|Hepatocellular carcinoma [RCV000444398]|Malignant melanoma of skin [RCV000443624]|Prostate adenocarcinoma [RCV000427048]|Transitional cell carcinoma of the bladder [RCV000426322]likely pathogenic2218583026218583026Human4name
597647695CV3653943single nucleotide variantNM_016284.5(CNOT1):c.283A>G (p.Ile95Val)Inborn genetic diseases [RCV004974062]uncertain significance165858780658587806Human1name
597798982CV3653960single nucleotide variantNM_015442.3(CNOT10):c.71C>G (p.Thr24Ser)not specified [RCV004904974]uncertain significance33270391632703916Humanname
597798985CV3653962single nucleotide variantNM_015442.3(CNOT10):c.549C>T (p.Asn183=)not specified [RCV004904976]likely benign33271334532713345Humanname
597719366CV3733503single nucleotide variantNM_014515.7(CNOT2):c.293G>A (p.Arg98His)not provided [RCV005052693]uncertain significance127032947770329477Humanname
597918787CV3764885single nucleotide variantNM_014516.4(CNOT3):c.2013C>G (p.Leu671=)not provided [RCV005114900]likely benign195415297554152975Humanname
597916387CV3779358single nucleotide variantNM_014516.4(CNOT3):c.119A>G (p.Gln40Arg)not provided [RCV005129499]likely pathogenic195414346754143467Humanname
597905814CV3803893single nucleotide variantNM_016284.5(CNOT1):c.1887C>T (p.Gly629=)not provided [RCV005153438]likely benign165857470158574701Humanname
597926355CV3819695single nucleotide variantNM_016284.5(CNOT1):c.182G>A (p.Gly61Asp)not provided [RCV005156395]uncertain significance165858882758588827Humanname
597861503CV3822519single nucleotide variantNM_014516.4(CNOT3):c.1200C>T (p.Gly400=)not provided [RCV005175049]likely benign195414845354148453Humanname
597877351CV3825776single nucleotide variantNM_014516.4(CNOT3):c.1872C>T (p.His624=)not provided [RCV005177650]likely benign195415259454152594Humanname
597878409CV3825928single nucleotide variantNM_016284.5(CNOT1):c.1089T>C (p.His363=)not provided [RCV005177802]likely benign165858147158581471Humanname
597908570CV3829932single nucleotide variantNM_016284.5(CNOT1):c.1035T>G (p.Leu345=)not provided [RCV005182501]likely benign165858280258582802Humanname
597966227CV3859076single nucleotide variantNM_016284.5(CNOT1):c.1392G>A (p.Gly464=)not provided [RCV005194471]likely benign165857889158578891Humanname
597887950CV3859414single nucleotide variantNM_016284.5(CNOT1):c.2403C>T (p.Asn801=)not provided [RCV005200070]likely benign165855692358556923Humanname
598230990CV3886400duplicationNM_016284.5(CNOT1):c.445dup (p.Ile149fs)Vissers-Bodmer syndrome [RCV005255844]pathogenic165858673658586737Human1name
598129190CV3888483single nucleotide variantNM_014516.4(CNOT3):c.1974C>T (p.Asp658=)not provided [RCV005244657]likely benign195415293654152936Humanname
598257801CV3941293single nucleotide variantNM_015442.3(CNOT10):c.32C>G (p.Ala11Gly)not specified [RCV005324491]uncertain significance33270387732703877Humanname
598257807CV3941295single nucleotide variantNM_015442.3(CNOT10):c.41A>G (p.His14Arg)not specified [RCV005324492]uncertain significance33270388632703886Humanname
616935958CV4015895single nucleotide variantNM_014515.7(CNOT2):c.260G>A (p.Arg87Lys)not provided [RCV005414759]uncertain significance127032944470329444Humanname
617151190CV4017783single nucleotide variantNM_014516.4(CNOT3):c.113C>T (p.Ala38Val)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005417568]uncertain significance195414346154143461Human1name
617151200CV4017784single nucleotide variantNM_014516.4(CNOT3):c.157A>C (p.Lys53Gln)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005417570]uncertain significance195414350554143505Human1name
21066817CV797925deletionNM_014516.4(CNOT3):c.732del (p.Ser245fs)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005410918]|not provided [RCV000997012]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance195414593154145931Human1name
38463778CV961350single nucleotide variantNM_014516.4(CNOT3):c.169C>T (p.Arg57Trp)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV002286829]|not provided [RCV001249291]pathogenic|not provided195414366054143660Human1name
126912274CV1038181single nucleotide variantNM_014515.7(CNOT2):c.710A>G (p.Asn237Ser)Inborn genetic diseases [RCV002548512]|not provided [RCV001356344]likely benign127033549870335498Human1name
150452594CV1207358single nucleotide variantNM_016284.5(CNOT1):c.4524G>A (p.Gln1508=)Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588042]|Vissers-Bodmer syndrome [RCV001588043]benign165854247958542479Human2name
150435811CV1207359single nucleotide variantNM_016284.5(CNOT1):c.4128G>A (p.Leu1376=)Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588044]|Vissers-Bodmer syndrome [RCV001588045]|not provided [RCV001694140]benign165854537058545370Human2name
150452507CV1275273single nucleotide variantNM_014516.4(CNOT3):c.563G>A (p.Arg188His)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV001706786]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity195414567754145677Human1name
150554308CV1295727single nucleotide variantNM_014516.4(CNOT3):c.559C>G (p.Leu187Val)not provided [RCV001770957]uncertain significance195414567354145673Humanname
150555031CV1310031single nucleotide variantNM_014516.4(CNOT3):c.602G>A (p.Arg201His)not provided [RCV003238037]uncertain significance195414571654145716Humanname
150555032CV1310032single nucleotide variantNM_014516.4(CNOT3):c.575A>G (p.Asn192Ser)not provided [RCV003238038]likely pathogenic195414568954145689Humanname
151785712CV1348822single nucleotide variantNM_014516.4(CNOT3):c.937C>T (p.His313Tyr)Inborn genetic diseases [RCV004041325]|not provided [RCV001897664]likely benign|uncertain significance195414819054148190Human1name
153001007CV1684040single nucleotide variantNM_016284.5(CNOT1):c.608T>C (p.Ile203Thr)See cases [RCV002254890]|Vissers-Bodmer syndrome [RCV004555634]likely pathogenic|uncertain significance165858657458586574Human1name
153304927CV1687374deletionNM_014516.4(CNOT3):c.1373del (p.Pro458fs)not provided [RCV002263192]pathogenic195414870554148705Humanname
153349439CV1693324single nucleotide variantNM_014516.4(CNOT3):c.794C>T (p.Thr265Ile)not provided [RCV002275843]|not specified [RCV005406423]uncertain significance195414600054146000Humanname
155268954CV1704786single nucleotide variantNM_005444.3(CNOT9):c.874C>T (p.Arg292Trp)CNOT9-associated neurodevelopmental disorder [RCV002286439]|See cases [RCV005255508]|not provided [RCV003155474]pathogenic2218594250218594250Human1name
155268957CV1705781duplicationNM_014516.4(CNOT3):c.1242dup (p.Ser415fs)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV002286442]pathogenic195414849454148495Human1name
155268975CV1705805single nucleotide variantNM_005444.3(CNOT9):c.680G>A (p.Arg227His)CNOT9-associated neurodevelopmental disorder [RCV002286460]|not provided [RCV003321920]likely pathogenic2218592656218592656Human1name
155643289CV1706646duplicationNM_014516.4(CNOT3):c.1941dup (p.Tyr648fs)See cases [RCV004584522]|not provided [RCV004572123]pathogenic195415289754152898Humanname
155730388CV1780794single nucleotide variantNM_016284.5(CNOT1):c.326C>A (p.Pro109His)not specified [RCV002308579]uncertain significance165858739758587397Humanname
155800299CV1862881single nucleotide variantNM_014516.4(CNOT3):c.943C>G (p.Gln315Glu)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV002472289]uncertain significance195414819654148196Human1name
156378914CV1876769single nucleotide variantNM_016284.5(CNOT1):c.3442C>T (p.Leu1148=)not provided [RCV003066991]benign165854979958549799Humanname
156251088CV1887133single nucleotide variantNM_016284.5(CNOT1):c.3363G>A (p.Thr1121=)not provided [RCV003086103]likely benign165854987858549878Humanname
156292354CV1887157single nucleotide variantNM_016284.5(CNOT1):c.3786T>C (p.Ile1262=)not provided [RCV003087538]likely benign165854671458546714Humanname
156406640CV1891238single nucleotide variantNM_016284.5(CNOT1):c.5106G>A (p.Gly1702=)not provided [RCV003070439]likely benign165853880158538801Humanname
156175312CV1891613single nucleotide variantNM_016284.5(CNOT1):c.866A>G (p.Gln289Arg)Inborn genetic diseases [RCV003083373]|not provided [RCV003067466]uncertain significance165858312358583123Human1name
156362231CV1905070single nucleotide variantNM_016284.5(CNOT1):c.6891G>C (p.Thr2297=)not provided [RCV002602581]likely benign165852339658523396Humanname
156408385CV1911592single nucleotide variantNM_016284.5(CNOT1):c.5610C>T (p.Arg1870=)not provided [RCV002607215]likely benign165853702558537025Humanname
156406903CV1917911single nucleotide variantNM_016284.5(CNOT1):c.5887C>T (p.Leu1963=)not provided [RCV002606737]likely benign165853415558534155Humanname
156405326CV1919288single nucleotide variantNM_016284.5(CNOT1):c.3666A>G (p.Leu1222=)not provided [RCV002585622]likely benign165854727058547270Humanname
156092017CV1919783single nucleotide variantNM_016284.5(CNOT1):c.466C>A (p.Leu156Ile)not provided [RCV002591946]uncertain significance165858671658586716Humanname
156368947CV1922676single nucleotide variantNM_016284.5(CNOT1):c.4662A>G (p.Pro1554=)not provided [RCV002633221]likely benign165854224958542249Humanname
155963043CV1931717single nucleotide variantNM_016284.5(CNOT1):c.7068C>T (p.Val2356=)not provided [RCV002616826]benign165852102158521021Humanname
156437237CV1937070single nucleotide variantNM_016284.5(CNOT1):c.4296G>A (p.Ser1432=)not provided [RCV003106768]likely benign165854374558543745Humanname
156436783CV1940384single nucleotide variantNM_016284.5(CNOT1):c.6405C>T (p.Ala2135=)not provided [RCV003106307]likely benign165852852358528523Humanname
156400278CV1940463single nucleotide variantNM_016284.5(CNOT1):c.631C>T (p.Arg211Cys)Inborn genetic diseases [RCV002656431]|not provided [RCV003108159]uncertain significance165858655158586551Human1name
156439198CV1944062single nucleotide variantNM_016284.5(CNOT1):c.3873A>G (p.Ala1291=)not provided [RCV003109154]likely benign165854645458546454Humanname
156437755CV1947770single nucleotide variantNM_016284.5(CNOT1):c.5040T>G (p.Leu1680=)not provided [RCV003107297]uncertain significance165853886758538867Humanname
156446560CV1947905single nucleotide variantNM_016284.5(CNOT1):c.4656G>A (p.Arg1552=)not provided [RCV003118069]likely benign165854225558542255Humanname
156118333CV1952519single nucleotide variantNM_016284.5(CNOT1):c.6111C>T (p.Ala2037=)not provided [RCV002571762]likely benign165853202458532024Humanname
156410574CV1958437single nucleotide variantNM_016284.5(CNOT1):c.6165G>C (p.Thr2055=)not provided [RCV002587197]likely benign165853197058531970Humanname
155978318CV1972279single nucleotide variantNM_016284.5(CNOT1):c.895C>G (p.Arg299Gly)not provided [RCV002617486]uncertain significance165858309458583094Humanname
156097595CV1981052single nucleotide variantNM_016284.5(CNOT1):c.6006T>C (p.Asn2002=)not provided [RCV002622092]likely benign165853228558532285Humanname
156124719CV1992877single nucleotide variantNM_016284.5(CNOT1):c.727T>A (p.Ser243Thr)not provided [RCV002623081]uncertain significance165858541758585417Humanname
156153134CV2023145single nucleotide variantNM_016284.5(CNOT1):c.7089G>A (p.Gln2363=)not provided [RCV002741287]likely benign165852100058521000Humanname
155994156CV2023470single nucleotide variantNM_014516.4(CNOT3):c.929G>A (p.Ser310Asn)Inborn genetic diseases [RCV004067861]|not provided [RCV002755883]likely benign|uncertain significance195414818254148182Human1name
156270265CV2026873single nucleotide variantNM_016284.5(CNOT1):c.706A>G (p.Met236Val)not provided [RCV002746613]uncertain significance165858543858585438Humanname
156050499CV2027289single nucleotide variantNM_016284.5(CNOT1):c.4641A>G (p.Thr1547=)not provided [RCV002736494]likely benign165854227058542270Humanname
155912537CV2029562single nucleotide variantNM_014516.4(CNOT3):c.730C>G (p.Pro244Ala)Inborn genetic diseases [RCV002750245]|not provided [RCV002745953]uncertain significance195414593654145936Human1name
156093931CV2030779single nucleotide variantNM_016284.5(CNOT1):c.5574A>G (p.Glu1858=)not provided [RCV002761052]likely benign165853706158537061Humanname
156046623CV2030902single nucleotide variantNM_016284.5(CNOT1):c.4893C>T (p.Ala1631=)not provided [RCV002736371]likely benign165853986758539867Humanname
155953358CV2033242single nucleotide variantNM_016284.5(CNOT1):c.3456C>T (p.Phe1152=)not provided [RCV002730798]likely benign165854978558549785Humanname
155957969CV2033542single nucleotide variantNM_016284.5(CNOT1):c.7047C>T (p.Ile2349=)not provided [RCV002731032]likely benign165852118858521188Humanname
156260711CV2033955single nucleotide variantNM_016284.5(CNOT1):c.4344G>A (p.Leu1448=)not provided [RCV002746298]likely benign165854369758543697Humanname
155926603CV2041407single nucleotide variantNM_016284.5(CNOT1):c.5241G>A (p.Ala1747=)not provided [RCV002750959]likely benign165853816158538161Humanname
155939171CV2041592single nucleotide variantNM_016284.5(CNOT1):c.397C>G (p.Leu133Val)not provided [RCV002775076]uncertain significance165858723758587237Humanname
156195234CV2066563single nucleotide variantNM_016284.5(CNOT1):c.5838C>T (p.Leu1946=)not provided [RCV002828748]likely benign165853420458534204Humanname
156159818CV2074044single nucleotide variantNM_016284.5(CNOT1):c.3072C>G (p.Ala1024=)not provided [RCV002851169]likely benign165855171858551718Humanname
156308669CV2076123single nucleotide variantNM_014516.4(CNOT3):c.311G>A (p.Ser104Asn)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003314045]|not provided [RCV002857535]conflicting interpretations of pathogenicity|uncertain significance195414405854144058Human1name
156310258CV2082276single nucleotide variantNM_016284.5(CNOT1):c.622A>C (p.Lys208Gln)not provided [RCV002898672]uncertain significance165858656058586560Humanname
156079243CV2098544single nucleotide variantNM_016284.5(CNOT1):c.6852C>T (p.Phe2284=)not provided [RCV002912643]likely benign165852343558523435Humanname
156203741CV2110174single nucleotide variantNM_016284.5(CNOT1):c.5673C>T (p.Thr1891=)not provided [RCV002957476]likely benign165853436958534369Humanname
156134518CV2113229single nucleotide variantNM_016284.5(CNOT1):c.3966T>C (p.Asp1322=)not provided [RCV002928328]likely benign165854636158546361Humanname
156214576CV2114715single nucleotide variantNM_016284.5(CNOT1):c.6228G>A (p.Ala2076=)not provided [RCV002932206]likely benign165853029758530297Humanname
156235473CV2118396single nucleotide variantNM_016284.5(CNOT1):c.6525G>A (p.Gln2175=)not provided [RCV002958672]likely benign165852606758526067Humanname
156227345CV2121872single nucleotide variantNM_016284.5(CNOT1):c.7008G>A (p.Lys2336=)not provided [RCV002958375]likely benign165852122758521227Humanname
155994473CV2122487single nucleotide variantNM_016284.5(CNOT1):c.4686T>C (p.Gly1562=)not provided [RCV002974884]likely benign165854161558541615Humanname
155965569CV2134800single nucleotide variantNM_016284.5(CNOT1):c.3210T>C (p.Ile1070=)not provided [RCV002972596]likely benign165855126458551264Humanname
156029447CV2135386single nucleotide variantNM_016284.5(CNOT1):c.788G>C (p.Gly263Ala)not provided [RCV002999074]uncertain significance165858535658585356Humanname
156245664CV2145382single nucleotide variantNM_014516.4(CNOT3):c.836C>T (p.Thr279Met)not provided [RCV003008260]uncertain significance195414604254146042Humanname
156302195CV2146315single nucleotide variantNM_016284.5(CNOT1):c.5058A>G (p.Glu1686=)not provided [RCV003028147]likely benign165853884958538849Humanname
156034768CV2150092single nucleotide variantNM_016284.5(CNOT1):c.821G>A (p.Arg274His)not provided [RCV003018828]uncertain significance165858316858583168Humanname
155971150CV2158141single nucleotide variantNM_016284.5(CNOT1):c.5847C>T (p.His1949=)not provided [RCV003033441]likely benign165853419558534195Humanname
155948630CV2162288single nucleotide variantNM_016284.5(CNOT1):c.5556A>G (p.Ala1852=)not provided [RCV003014720]likely benign165853707958537079Humanname
156359188CV2162323single nucleotide variantNM_016284.5(CNOT1):c.4644T>C (p.Tyr1548=)not provided [RCV003031442]likely benign165854226758542267Humanname
156006662CV2163001single nucleotide variantNM_016284.5(CNOT1):c.6705C>T (p.Ser2235=)not provided [RCV003017528]likely benign165852525858525258Humanname
156050596CV2165197single nucleotide variantNM_016284.5(CNOT1):c.4059A>G (p.Pro1353=)not provided [RCV003019381]likely benign165854543958545439Humanname
156190557CV2165960single nucleotide variantNM_016284.5(CNOT1):c.743A>G (p.Lys248Arg)Inborn genetic diseases [RCV003041637]|not provided [RCV003041636]uncertain significance165858540158585401Human1name
156049364CV2169026single nucleotide variantNM_016284.5(CNOT1):c.6549T>C (p.Tyr2183=)not provided [RCV003019344]likely benign165852604358526043Humanname
156333922CV2172083single nucleotide variantNM_016284.5(CNOT1):c.6675G>A (p.Gln2225=)not provided [RCV003029920]likely benign165852528858525288Humanname
156196215CV2175536single nucleotide variantNM_016284.5(CNOT1):c.5211T>G (p.Val1737=)not provided [RCV003058002]likely benign165853819158538191Humanname
156327649CV2184515single nucleotide variantNM_016284.5(CNOT1):c.737T>C (p.Val246Ala)not provided [RCV003047024]uncertain significance165858540758585407Humanname
156129177CV2185873single nucleotide variantNM_014516.4(CNOT3):c.731C>T (p.Pro244Leu)not provided [RCV003055773]uncertain significance195414593754145937Humanname
156398814CV2194802single nucleotide variantNM_016284.5(CNOT1):c.758G>A (p.Ser253Asn)Inborn genetic diseases [RCV002655738]|not provided [RCV005099477]likely benign|uncertain significance165858538658585386Human1name
156370176CV2204129single nucleotide variantNM_014515.7(CNOT2):c.320C>T (p.Pro107Leu)Inborn genetic diseases [RCV002652699]uncertain significance127032950470329504Human1name
156254095CV2209616single nucleotide variantNM_014516.4(CNOT3):c.907A>C (p.Asn303His)Inborn genetic diseases [RCV002702624]uncertain significance195414816054148160Human1name
156233626CV2227780single nucleotide variantNM_014515.7(CNOT2):c.721G>A (p.Gly241Arg)Inborn genetic diseases [RCV002712923]uncertain significance127033550970335509Human1name
156028569CV2278541single nucleotide variantNM_144571.3(CNOT6L):c.140G>A (p.Ser47Asn)not specified [RCV004132975]uncertain significance47777470477774704Humanname
155956724CV2304066single nucleotide variantNM_014516.4(CNOT3):c.436G>T (p.Val146Leu)Inborn genetic diseases [RCV002905629]uncertain significance195414428554144285Human1name
156050304CV2304568single nucleotide variantNM_014515.7(CNOT2):c.797C>G (p.Ala266Gly)Inborn genetic diseases [RCV002911162]uncertain significance127033741070337410Human1name
156065410CV2317761single nucleotide variantNM_013354.7(CNOT7):c.523C>T (p.Pro175Ser)not specified [RCV004175012]uncertain significance81723481117234811Humanname
156335119CV2333482single nucleotide variantNM_144571.3(CNOT6L):c.179C>T (p.Ala60Val)not specified [RCV004190179]uncertain significance47777466577774665Humanname
156106219CV2387064single nucleotide variantNM_144571.3(CNOT6L):c.160T>G (p.Ser54Ala)not specified [RCV004226808]uncertain significance47777468477774684Humanname
243055607CV2407518single nucleotide variantNM_014515.7(CNOT2):c.406C>T (p.Pro136Ser)Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies [RCV003145068]uncertain significance127033030670330306Human1name
329395260CV2458248single nucleotide variantNM_014516.4(CNOT3):c.557T>C (p.Ile186Thr)Inborn genetic diseases [RCV003194276]uncertain significance195414567154145671Human1name
329399639CV2470179single nucleotide variantNM_016284.5(CNOT1):c.529G>A (p.Ala177Thr)Inborn genetic diseases [RCV003221007]uncertain significance165858665358586653Human1name
329952135CV2671593single nucleotide variantNM_014515.7(CNOT2):c.758C>T (p.Ala253Val)not provided [RCV003236989]uncertain significance127033554670335546Humanname
401720843CV2673510single nucleotide variantNM_016284.5(CNOT1):c.974A>G (p.Lys325Arg)Inborn genetic diseases [RCV003244214]uncertain significance165858286358582863Human1name
401737636CV2679931single nucleotide variantNM_014515.7(CNOT2):c.548G>A (p.Arg183Gln)Inborn genetic diseases [RCV003239898]uncertain significance127033044870330448Human1name
401798756CV2742555single nucleotide variantNM_016284.5(CNOT1):c.875G>T (p.Arg292Met)not provided [RCV003324999]uncertain significance165858311458583114Humanname
401873256CV2749734single nucleotide variantNM_014516.4(CNOT3):c.672T>G (p.Phe224Leu)not provided [RCV003332863]uncertain significance195414578654145786Humanname
401875733CV2750085single nucleotide variantNM_014516.4(CNOT3):c.913T>A (p.Ser305Thr)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003333502]uncertain significance195414816654148166Human1name
401882270CV2781554single nucleotide variantNM_016284.5(CNOT1):c.958A>G (p.Ile320Val)Inborn genetic diseases [RCV003365205]uncertain significance165858287958582879Human1name
401897366CV2786945single nucleotide variantNM_014516.4(CNOT3):c.544A>G (p.Met182Val)Inborn genetic diseases [RCV003374986]uncertain significance195414565854145658Human1name
401916211CV2795380single nucleotide variantNM_016284.5(CNOT1):c.820C>T (p.Arg274Cys)Neurodevelopmental disorder [RCV003389215]uncertain significance165858316958583169Human1name
401911700CV2807986single nucleotide variantNM_016284.5(CNOT1):c.6429C>T (p.Pro2143=)not provided [RCV003426722]likely benign165852849958528499Humanname
401903311CV2807988single nucleotide variantNM_016284.5(CNOT1):c.5586C>G (p.Leu1862=)not provided [RCV003419347]likely benign165853704958537049Humanname
401911704CV2807992single nucleotide variantNM_016284.5(CNOT1):c.3474T>C (p.Asn1158=)not provided [RCV003426725]benign|likely benign165854976758549767Humanname
401916781CV2829486single nucleotide variantNM_014515.7(CNOT2):c.335C>T (p.Pro112Leu)not provided [RCV003443530]uncertain significance127032951970329519Humanname
401913370CV2830349single nucleotide variantNM_014515.7(CNOT2):c.917G>T (p.Gly306Val)not provided [RCV003441564]uncertain significance127033845970338459Humanname
401905280CV2831422single nucleotide variantNM_014516.4(CNOT3):c.658G>A (p.Glu220Lys)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003444414]uncertain significance195414577254145772Human1name
401943711CV2840159single nucleotide variantNM_016284.5(CNOT1):c.3984A>G (p.Glu1328=)not provided [RCV003456934]likely benign165854634358546343Humanname
405170426CV2854356single nucleotide variantNM_016284.5(CNOT1):c.6381G>A (p.Gln2127=)not provided [RCV003542121]benign165852854758528547Humanname
402493608CV2874219single nucleotide variantNM_016284.5(CNOT1):c.394G>A (p.Ala132Thr)not provided [RCV003545166]uncertain significance165858724058587240Humanname
405121517CV2888141single nucleotide variantNM_016284.5(CNOT1):c.6576C>T (p.Phe2192=)not provided [RCV003559143]likely benign165852601658526016Humanname
405158495CV2898187single nucleotide variantNM_016284.5(CNOT1):c.6546C>T (p.Ser2182=)not provided [RCV003562224]likely benign165852604658526046Humanname
402465686CV2913815single nucleotide variantNM_016284.5(CNOT1):c.3516C>T (p.Asn1172=)not provided [RCV003569287]likely benign165854972558549725Humanname
405194433CV2925725single nucleotide variantNM_016284.5(CNOT1):c.947C>T (p.Pro316Leu)not provided [RCV003565218]uncertain significance165858289058582890Humanname
402504086CV2933497single nucleotide variantNM_016284.5(CNOT1):c.3708G>T (p.Val1236=)not provided [RCV003574291]likely benign165854722858547228Humanname
405127679CV2939599single nucleotide variantNM_016284.5(CNOT1):c.4080C>T (p.His1360=)not provided [RCV003672048]likely benign165854541858545418Humanname
402522690CV2940289single nucleotide variantNM_016284.5(CNOT1):c.4107C>T (p.Gly1369=)not provided [RCV003663427]likely benign165854539158545391Humanname
405088740CV2943319single nucleotide variantNM_016284.5(CNOT1):c.695G>A (p.Arg232Gln)not provided [RCV003665058]uncertain significance165858544958585449Humanname
405172322CV2961318single nucleotide variantNM_016284.5(CNOT1):c.3372A>G (p.Glu1124=)not provided [RCV003675440]likely benign165854986958549869Humanname
405241774CV2970864single nucleotide variantNM_016284.5(CNOT1):c.5898C>T (p.Val1966=)not provided [RCV003684187]likely benign165853239358532393Humanname
405229014CV2977101single nucleotide variantNM_014516.4(CNOT3):c.800G>A (p.Ser267Asn)not provided [RCV003711195]uncertain significance195414600654146006Humanname
405127744CV3013888single nucleotide variantNM_016284.5(CNOT1):c.3435T>C (p.Phe1145=)not provided [RCV003701378]likely benign165854980658549806Humanname
405145263CV3023847single nucleotide variantNM_014516.4(CNOT3):c.512G>A (p.Arg171Gln)Inborn genetic diseases [RCV004980934]|not provided [RCV003702868]uncertain significance195414562654145626Human1name
405180478CV3027805single nucleotide variantNM_014516.4(CNOT3):c.983C>T (p.Pro328Leu)Inborn genetic diseases [RCV004963765]|not provided [RCV003705479]likely benign|uncertain significance195414823654148236Human1name
402486879CV3033933single nucleotide variantNM_016284.5(CNOT1):c.6168A>G (p.Pro2056=)not provided [RCV003713321]likely benign165853196758531967Humanname
405194689CV3062873single nucleotide variantNM_016284.5(CNOT1):c.4533A>G (p.Ala1511=)not provided [RCV003730063]likely benign165854247058542470Humanname
405151114CV3063639single nucleotide variantNM_016284.5(CNOT1):c.5727C>T (p.Ile1909=)not provided [RCV003726348]likely benign165853431558534315Humanname
405150006CV3063640single nucleotide variantNM_016284.5(CNOT1):c.5607C>T (p.Gly1869=)not provided [RCV003726349]likely benign165853702858537028Humanname
405030723CV3129997single nucleotide variantNM_016284.5(CNOT1):c.4788C>T (p.Ala1596=)not provided [RCV003830596]likely benign165854151358541513Humanname
405268362CV3187021single nucleotide variantNM_014516.4(CNOT3):c.872C>A (p.Ser291Tyr)not provided [RCV003887104]uncertain significance195414663554146635Humanname
405270209CV3187649single nucleotide variantNM_016284.5(CNOT1):c.613G>A (p.Ala205Thr)not provided [RCV003887733]uncertain significance165858656958586569Humanname
405281744CV3224321duplicationNM_014516.4(CNOT3):c.1373dup (p.Ser459fs)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003988703]pathogenic195414870454148705Human1name
405692241CV3227788single nucleotide variantNM_014516.4(CNOT3):c.461G>T (p.Arg154Leu)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003992123]uncertain significance195414431054144310Human1name
405673946CV3304571single nucleotide variantNM_016284.5(CNOT1):c.487G>A (p.Ala163Thr)Inborn genetic diseases [RCV004441956]uncertain significance165858669558586695Human1name
405673959CV3304574single nucleotide variantNM_016284.5(CNOT1):c.610G>C (p.Asp204His)Inborn genetic diseases [RCV004441959]|not provided [RCV005104616]uncertain significance165858657258586572Human1name
405674106CV3304587single nucleotide variantNM_017546.5(CNOT11):c.158G>C (p.Gly53Ala)not specified [RCV004441972]uncertain significance2101253122101253122Humanname
405674129CV3304592single nucleotide variantNM_014515.7(CNOT2):c.683C>A (p.Ser228Ter)Inborn genetic diseases [RCV004441977]pathogenic127033547170335471Human1name
405674133CV3304593single nucleotide variantNM_014515.7(CNOT2):c.750C>A (p.Asn250Lys)Inborn genetic diseases [RCV004441978]uncertain significance127033553870335538Human1name
405674137CV3304594single nucleotide variantNM_014515.7(CNOT2):c.928T>G (p.Ser310Ala)Inborn genetic diseases [RCV004441979]uncertain significance127033847070338470Human1name
405674190CV3304605single nucleotide variantNM_014516.4(CNOT3):c.718G>A (p.Ala240Thr)Inborn genetic diseases [RCV004441990]uncertain significance195414592454145924Human1name
405674264CV3304623single nucleotide variantNM_013354.7(CNOT7):c.830A>G (p.Tyr277Cys)not specified [RCV004442008]uncertain significance81723074817230748Humanname
405854398CV3393903single nucleotide variantNM_014516.4(CNOT3):c.766C>T (p.Gln256Ter)not provided [RCV004547129]pathogenic195414597254145972Humanname
405855244CV3394006single nucleotide variantNM_014516.4(CNOT3):c.511C>T (p.Arg171Trp)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004547232]uncertain significance195414562554145625Human1name
407427797CV3412095single nucleotide variantNM_014516.4(CNOT3):c.403C>T (p.Leu135Phe)not provided [RCV004592266]uncertain significance195414425254144252Humanname
407470508CV3425686single nucleotide variantNM_016284.5(CNOT1):c.736G>T (p.Val246Leu)Inborn genetic diseases [RCV004615462]likely benign165858540858585408Human1name
407470518CV3425689single nucleotide variantNM_016284.5(CNOT1):c.901C>T (p.His301Tyr)Inborn genetic diseases [RCV004615465]uncertain significance165858308858583088Human1name
407470563CV3425701single nucleotide variantNM_014515.7(CNOT2):c.328G>A (p.Val110Ile)Inborn genetic diseases [RCV004615477]uncertain significance127032951270329512Human1name
407470570CV3425703single nucleotide variantNM_014515.7(CNOT2):c.711C>G (p.Asn237Lys)Inborn genetic diseases [RCV004615479]uncertain significance127033549970335499Human1name
407470573CV3425704single nucleotide variantNM_014515.7(CNOT2):c.446T>C (p.Ile149Thr)Inborn genetic diseases [RCV004615480]uncertain significance127033034670330346Human1name
407470660CV3425727single nucleotide variantNM_144571.3(CNOT6L):c.209G>A (p.Arg70His)not specified [RCV004615503]uncertain significance47777463577774635Humanname
407495954CV3496584single nucleotide variantNM_014516.4(CNOT3):c.529C>G (p.Arg177Gly)not provided [RCV004696785]uncertain significance195414564354145643Humanname
407572905CV3497306deletionNM_014515.7(CNOT2):c.1369del (p.Gln457fs)Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies [RCV004699154]likely pathogenic127034420670344206Human1name
408377551CV3500766single nucleotide variantNM_016284.5(CNOT1):c.3528C>T (p.Leu1176=)not provided [RCV004722416]likely benign165854767758547677Humanname
408369049CV3502732single nucleotide variantNM_005444.3(CNOT9):c.680G>C (p.Arg227Pro)not provided [RCV004723853]uncertain significance2218592656218592656Humanname
408369924CV3502895single nucleotide variantNM_014515.7(CNOT2):c.583G>A (p.Gly195Arg)not provided [RCV004724016]uncertain significance127033278070332780Humanname
408387436CV3518849single nucleotide variantNM_014516.4(CNOT3):c.629A>G (p.Tyr210Cys)not provided [RCV004761168]uncertain significance195414574354145743Humanname
408394763CV3522062single nucleotide variantNM_016284.5(CNOT1):c.334T>C (p.Phe112Leu)Vissers-Bodmer syndrome [RCV004764889]uncertain significance165858738958587389Human1name
408380716CV3523637single nucleotide variantNM_016284.5(CNOT1):c.668T>C (p.Leu223Pro)not provided [RCV004766035]uncertain significance165858547658585476Humanname
408390658CV3527665single nucleotide variantNM_014516.4(CNOT3):c.635A>C (p.Asp212Ala)not provided [RCV004774933]uncertain significance195414574954145749Humanname
408392642CV3528205single nucleotide variantNM_005444.3(CNOT9):c.608A>G (p.Tyr203Cys)not provided [RCV004775973]uncertain significance2218592371218592371Humanname
408385829CV3528701single nucleotide variantNM_014516.4(CNOT3):c.644A>G (p.Gln215Arg)not provided [RCV004772534]uncertain significance195414575854145758Humanname
408389001CV3529172single nucleotide variantNM_014516.4(CNOT3):c.407A>G (p.Asn136Ser)not provided [RCV004773994]uncertain significance195414425654144256Humanname
596930969CV3529811single nucleotide variantNM_014516.4(CNOT3):c.628T>C (p.Tyr210His)not provided [RCV004780861]uncertain significance195414574254145742Humanname
596923406CV3530390single nucleotide variantNM_016284.5(CNOT1):c.342G>C (p.Gln114His)not provided [RCV004776989]uncertain significance165858738158587381Humanname
596923430CV3530415single nucleotide variantNM_016284.5(CNOT1):c.301T>C (p.Tyr101His)not provided [RCV004777014]uncertain significance165858778858587788Humanname
596926268CV3530752single nucleotide variantNM_016284.5(CNOT1):c.800G>C (p.Cys267Ser)not provided [RCV004778337]uncertain significance165858534458585344Humanname
596926939CV3530916single nucleotide variantNM_005444.3(CNOT9):c.376G>T (p.Val126Phe)not provided [RCV004778501]uncertain significance2218584667218584667Humanname
596930016CV3531303single nucleotide variantNM_005444.3(CNOT9):c.604A>C (p.Thr202Pro)not provided [RCV004779877]uncertain significance2218592367218592367Humanname
596931655CV3531923single nucleotide variantNM_014516.4(CNOT3):c.868C>T (p.Arg290Cys)not provided [RCV004781485]uncertain significance195414663154146631Humanname
596921304CV3534948single nucleotide variantNM_014516.4(CNOT3):c.694G>A (p.Glu232Lys)not provided [RCV004784506]uncertain significance195414580854145808Humanname
596921522CV3535144single nucleotide variantNM_005444.3(CNOT9):c.712C>T (p.Arg238Ter)not provided [RCV004784703]uncertain significance2218592688218592688Humanname
596921816CV3535442single nucleotide variantNM_016284.5(CNOT1):c.954T>A (p.Ser318Arg)Vissers-Bodmer syndrome [RCV004784997]uncertain significance165858288358582883Human1name
596928173CV3541396deletionNM_014516.4(CNOT3):c.1149del (p.Ser384fs)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004797268]likely pathogenic195414840054148400Human1name
596943629CV3542833single nucleotide variantNM_005444.3(CNOT9):c.679C>A (p.Arg227Ser)not provided [RCV004798417]uncertain significance2218592655218592655Humanname
596944547CV3543427single nucleotide variantNM_014516.4(CNOT3):c.620T>C (p.Val207Ala)not provided [RCV004801548]uncertain significance195414573454145734Humanname
596944943CV3543597single nucleotide variantNM_005444.3(CNOT9):c.583G>C (p.Gly195Arg)not provided [RCV004801719]uncertain significance2218592346218592346Humanname
596946879CV3546936deletionNM_014516.4(CNOT3):c.1232del (p.Ser411fs)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810742]pathogenic195414848554148485Human1name
596946882CV3546939duplicationNM_014516.4(CNOT3):c.1438dup (p.Ala480fs)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810745]likely pathogenic195414958654149587Human1name
596945308CV3547822single nucleotide variantNM_016284.5(CNOT1):c.6648T>C (p.Asn2216=)not provided [RCV004809153]likely benign165852531558525315Humanname
596947468CV3549023single nucleotide variantNM_016284.5(CNOT1):c.917A>G (p.Asp306Gly)not provided [RCV004811347]uncertain significance165858307258583072Humanname
12845497CV363404single nucleotide variantNM_005444.3(CNOT9):c.391C>T (p.Pro131Ser)Malignant melanoma of skin [RCV000439915]likely pathogenic2218584682218584682Human1name
597798995CV3650461single nucleotide variantNM_017546.5(CNOT11):c.180G>T (p.Arg60Ser)not specified [RCV004904981]uncertain significance2101253144101253144Humanname
597798998CV3650463single nucleotide variantNM_017546.5(CNOT11):c.175G>A (p.Gly59Ser)not specified [RCV004904983]uncertain significance2101253139101253139Humanname
597799006CV3650467single nucleotide variantNM_017546.5(CNOT11):c.1305T>C (p.Thr435=)not specified [RCV004904987]likely benign2101269106101269106Humanname
597647760CV3650469single nucleotide variantNM_014515.7(CNOT2):c.850C>T (p.Pro284Ser)Inborn genetic diseases [RCV004974075]uncertain significance127033746370337463Human1name
597647770CV3650471single nucleotide variantNM_014515.7(CNOT2):c.706C>G (p.Arg236Gly)Inborn genetic diseases [RCV004974077]uncertain significance127033549470335494Human1name
597647788CV3650476single nucleotide variantNM_014516.4(CNOT3):c.812C>T (p.Pro271Leu)Inborn genetic diseases [RCV004974081]uncertain significance195414601854146018Human1name
597647793CV3650477single nucleotide variantNM_014516.4(CNOT3):c.896C>T (p.Ser299Phe)Inborn genetic diseases [RCV004974082]uncertain significance195414814954148149Human1name
597631942CV3650478single nucleotide variantNM_014516.4(CNOT3):c.727C>T (p.Pro243Ser)Inborn genetic diseases [RCV004967888]uncertain significance195414593354145933Human1name
597799034CV3650492single nucleotide variantNM_001370472.1(CNOT6):c.21G>T (p.Glu7Asp)not specified [RCV004905002]uncertain significance5180529297180529297Humanname
597799046CV3650498single nucleotide variantNM_013354.7(CNOT7):c.371A>G (p.Lys124Arg)not specified [RCV004905008]uncertain significance81723731417237314Humanname
597799050CV3650500single nucleotide variantNM_013354.7(CNOT7):c.378T>G (p.His126Gln)not specified [RCV004905010]uncertain significance81723730717237307Humanname
597647685CV3653941single nucleotide variantNM_016284.5(CNOT1):c.368A>G (p.Lys123Arg)Inborn genetic diseases [RCV004974060]uncertain significance165858735558587355Human1name
597647691CV3653942single nucleotide variantNM_016284.5(CNOT1):c.527T>C (p.Ile176Thr)Inborn genetic diseases [RCV004974061]|not provided [RCV005110132]uncertain significance165858665558586655Human1name
597647725CV3653950deletionNM_016284.5(CNOT1):c.2834del (p.Pro945fs)Inborn genetic diseases [RCV004974068]pathogenic165855530858555308Human1name
597713222CV3715510single nucleotide variantNM_016284.5(CNOT1):c.581G>T (p.Gly194Val)Holoprosencephaly 12 with or without pancreatic agenesis [RCV005009972]uncertain significance165858660158586601Human1name
597712466CV3732941single nucleotide variantNM_014516.4(CNOT3):c.439G>A (p.Glu147Lys)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005052136]likely pathogenic195414428854144288Human1name
597715525CV3733196single nucleotide variantNM_016284.5(CNOT1):c.3828G>A (p.Lys1276=)not provided [RCV005052385]uncertain significance165854667258546672Humanname
597718882CV3733457single nucleotide variantNM_005444.3(CNOT9):c.323C>T (p.Ser108Leu)not provided [RCV005052647]uncertain significance2218584614218584614Humanname
597892728CV3763368single nucleotide variantNM_016284.5(CNOT1):c.425G>A (p.Arg142Lys)not provided [RCV005110948]uncertain significance165858720958587209Humanname
597862150CV3766456single nucleotide variantNM_016284.5(CNOT1):c.6012T>C (p.Pro2004=)not provided [RCV005106181]likely benign165853227958532279Humanname
597953337CV3776386single nucleotide variantNM_016284.5(CNOT1):c.6396C>T (p.Ile2132=)not provided [RCV005121514]likely benign165852853258528532Humanname
597960447CV3798060single nucleotide variantNM_016284.5(CNOT1):c.803C>T (p.Ala268Val)not provided [RCV005138534]uncertain significance165858534158585341Humanname
597975209CV3798997single nucleotide variantNM_016284.5(CNOT1):c.5763T>G (p.Pro1921=)not provided [RCV005144393]likely benign165853427958534279Humanname
597903182CV3804597single nucleotide variantNM_016284.5(CNOT1):c.532A>G (p.Ile178Val)Holoprosencephaly 12 with or without pancreatic agenesis [RCV005358225]|not provided [RCV005153032]uncertain significance165858665058586650Human1name
597938640CV3808284single nucleotide variantNM_014516.4(CNOT3):c.703C>T (p.Pro235Ser)not provided [RCV005158472]uncertain significance195414581754145817Humanname
597934063CV3810851single nucleotide variantNM_016284.5(CNOT1):c.6375T>C (p.Cys2125=)not provided [RCV005157560]likely benign165852855358528553Humanname
597953010CV3815889single nucleotide variantNM_016284.5(CNOT1):c.5034T>C (p.Ala1678=)not provided [RCV005161641]likely benign165853887358538873Humanname
597956912CV3818092single nucleotide variantNM_014516.4(CNOT3):c.945G>C (p.Gln315His)not provided [RCV005162543]uncertain significance195414819854148198Humanname
597966265CV3823731single nucleotide variantNM_016284.5(CNOT1):c.998C>T (p.Ala333Val)not provided [RCV005165151]uncertain significance165858283958582839Humanname
597878488CV3825937single nucleotide variantNM_016284.5(CNOT1):c.5352G>T (p.Leu1784=)not provided [RCV005177811]likely benign165853795358537953Humanname
597930868CV3827022single nucleotide variantNM_016284.5(CNOT1):c.5835G>C (p.Leu1945=)not provided [RCV005157035]likely benign165853420758534207Humanname
597972160CV3829488single nucleotide variantNM_014516.4(CNOT3):c.401C>T (p.Thr134Met)Inborn genetic diseases [RCV005323756]|not provided [RCV005167275]likely benign|uncertain significance195414425054144250Human1name
597976430CV3829600single nucleotide variantNM_016284.5(CNOT1):c.5871C>T (p.Val1957=)not provided [RCV005169867]likely benign165853417158534171Humanname
597875403CV3829684single nucleotide variantNM_014516.4(CNOT3):c.827A>C (p.Asn276Thr)Complex neurodevelopmental disorder [RCV005358237]|not provided [RCV005177392]benign195414603354146033Human1name
597892849CV3833347single nucleotide variantNM_016284.5(CNOT1):c.4116A>G (p.Pro1372=)not provided [RCV005180039]likely benign165854538258545382Humanname
597964311CV3848016single nucleotide variantNM_016284.5(CNOT1):c.4290G>C (p.Leu1430=)not provided [RCV005193895]likely benign165854375158543751Humanname
597925641CV3863512deletionNM_005444.3(CNOT9):c.67_70del (p.Tyr23fs)not provided [RCV005205837]uncertain significance2218580600218580603Humanname
597925683CV3863523single nucleotide variantNM_016284.5(CNOT1):c.625A>G (p.Thr209Ala)not provided [RCV005205848]uncertain significance165858655758586557Humanname
598126698CV3882153single nucleotide variantNM_016284.5(CNOT1):c.496A>C (p.Ser166Arg)not provided [RCV005233704]uncertain significance165858668658586686Humanname
598126707CV3882162single nucleotide variantNM_014515.7(CNOT2):c.917G>A (p.Gly306Asp)not provided [RCV005233713]uncertain significance127033845970338459Humanname
598126900CV3882360single nucleotide variantNM_005444.3(CNOT9):c.511A>G (p.Met171Val)not provided [RCV005233911]uncertain significance2218587666218587666Humanname
598125776CV3883267single nucleotide variantNM_016284.5(CNOT1):c.304C>T (p.Gln102Ter)Holoprosencephaly 12 with or without pancreatic agenesis [RCV005233142]pathogenic165858778558587785Human1name
598126056CV3886046single nucleotide variantNM_014516.4(CNOT3):c.554C>T (p.Thr185Ile)not provided [RCV005241849]uncertain significance195414566854145668Humanname
598128411CV3887615single nucleotide variantNM_016284.5(CNOT1):c.745A>G (p.Thr249Ala)not provided [RCV005243788]uncertain significance165858539958585399Humanname
598221469CV3891936single nucleotide variantNM_016284.5(CNOT1):c.439C>T (p.Gln147Ter)Vissers-Bodmer syndrome [RCV005253275]likely pathogenic165858674358586743Human1name
598202560CV3892818single nucleotide variantNM_014515.7(CNOT2):c.821C>T (p.Ser274Leu)not provided [RCV005255148]uncertain significance127033743470337434Humanname
598243657CV3895092single nucleotide variantNM_016284.5(CNOT1):c.4104G>A (p.Ala1368=)Holoprosencephaly 12 with or without pancreatic agenesis [RCV005365569]uncertain significance165854539458545394Human1name
598257778CV3941286single nucleotide variantNM_016284.5(CNOT1):c.6456G>A (p.Val2152=)Inborn genetic diseases [RCV005324484]uncertain significance165852613658526136Human1name
598257782CV3941287single nucleotide variantNM_016284.5(CNOT1):c.472C>T (p.Arg158Cys)Inborn genetic diseases [RCV005324485]uncertain significance165858671058586710Human1name
598257841CV3941302single nucleotide variantNM_014515.7(CNOT2):c.758C>G (p.Ala253Gly)Inborn genetic diseases [RCV005324499]uncertain significance127033554670335546Human1name
598257851CV3941305single nucleotide variantNM_014516.4(CNOT3):c.973T>G (p.Ser325Ala)Inborn genetic diseases [RCV005324502]uncertain significance195414822654148226Human1name
598257865CV3941310single nucleotide variantNM_014516.4(CNOT3):c.995C>T (p.Ser332Phe)Inborn genetic diseases [RCV005324506]uncertain significance195414824854148248Human1name
598257912CV3941319single nucleotide variantNM_144571.3(CNOT6L):c.206G>C (p.Ser69Thr)not specified [RCV005324515]uncertain significance47777463877774638Humanname
616933958CV4011931single nucleotide variantNM_016284.5(CNOT1):c.536A>C (p.Glu179Ala)not specified [RCV005408480]uncertain significance165858664658586646Humanname
616934068CV4012046single nucleotide variantNM_016284.5(CNOT1):c.3465G>A (p.Thr1155=)not specified [RCV005408597]likely benign165854977658549776Humanname
616934448CV4012453single nucleotide variantNM_014515.7(CNOT2):c.400A>G (p.Met134Val)not specified [RCV005409490]uncertain significance127033030070330300Humanname
616935334CV4015929single nucleotide variantNM_014516.4(CNOT3):c.418G>A (p.Asp140Asn)not provided [RCV005414793]uncertain significance195414426754144267Humanname
617149857CV4017301single nucleotide variantNM_016284.5(CNOT1):c.530C>G (p.Ala177Gly)not provided [RCV005416958]uncertain significance165858665258586652Humanname
617149997CV4021596single nucleotide variantNM_016284.5(CNOT1):c.4446A>C (p.Pro1482=)not provided [RCV005425565]likely benign165854255758542557Humanname
13532437CV512436duplicationNM_014516.4(CNOT3):c.1440dup (p.Gly481fs)Inborn genetic diseases [RCV000624202]pathogenic|likely pathogenic195414959254149593Human1name
15014858CV679320single nucleotide variantNM_014515.7(CNOT2):c.946A>T (p.Lys316Ter)Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies [RCV000852366]pathogenic127033848870338488Human1name
15156192CV749062single nucleotide variantNM_144571.3(CNOT6L):c.1420T>C (p.Leu474=)not provided [RCV000924620]likely benign47772620277726202Humanname
21066818CV797926single nucleotide variantNM_014516.4(CNOT3):c.910G>A (p.Gly304Ser)Complex neurodevelopmental disorder [RCV005367659]|Inborn genetic diseases [RCV002550705]|Moyamoya angiopathy with developmental delay [RCV001261735]|not provided [RCV000997013]|not specified [RCV002249603]likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance195414816354148163Human2name
8630189CV85336single nucleotide variantNM_005444.3(CNOT9):c.392C>T (p.Pro131Leu)CNOT9-associated neurodevelopmental disorder [RCV002286407]likely pathogenic|not provided2218584683218584683Humanname
38596569CV963902single nucleotide variantNM_014516.4(CNOT3):c.710C>T (p.Ala237Val)Intellectual disability [RCV001251949]|not provided [RCV003698852]likely benign|conflicting interpretations of pathogenicity|uncertain significance195414591654145916Human2name
38596568CV963903single nucleotide variantNM_014516.4(CNOT3):c.959C>T (p.Pro320Leu)Inborn genetic diseases [RCV002570480]|Intellectual disability [RCV001251948]|not provided [RCV003708586]likely benign|uncertain significance195414821254148212Human3name
40815061CV970347single nucleotide variantNM_014516.4(CNOT3):c.643C>T (p.Gln215Ter)Moyamoya angiopathy with developmental delay [RCV001261733]likely pathogenic195414575754145757Humanname
40886527CV973105single nucleotide variantNM_014516.4(CNOT3):c.520G>A (p.Glu174Lys)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV001265648]likely pathogenic195414563454145634Human1name
40887407CV974180duplicationNM_014516.4(CNOT3):c.1032dup (p.Ala345fs)Inborn genetic diseases [RCV001266982]pathogenic195414828154148282Human1name
155797766CV1860474single nucleotide variantNM_014516.4(CNOT3):c.1594C>T (p.Pro532Ser)not provided [RCV002467116]uncertain significance195414974754149747Humanname
156166450CV1866903single nucleotide variantNM_016284.5(CNOT1):c.2287A>G (p.Thr763Ala)not provided [RCV002508455]uncertain significance165855851858558518Humanname
156383652CV1870587single nucleotide variantNM_016284.5(CNOT1):c.2087G>A (p.Arg696His)not provided [RCV003067381]uncertain significance165856025558560255Humanname
156403223CV1904420single nucleotide variantNM_016284.5(CNOT1):c.1216C>T (p.Leu406Phe)not provided [RCV002585167]uncertain significance165858076058580760Humanname
156214551CV1930904single nucleotide variantNM_016284.5(CNOT1):c.1328G>A (p.Arg443Gln)Holoprosencephaly 12 with or without pancreatic agenesis [RCV005356310]|Inborn genetic diseases [RCV002644141]|not provided [RCV002644140]likely benign|uncertain significance165858064858580648Human2name
156094953CV2004523single nucleotide variantNM_016284.5(CNOT1):c.2008A>G (p.Ile670Val)not provided [RCV002639359]uncertain significance165856033458560334Humanname
156398422CV2013066single nucleotide variantNM_016284.5(CNOT1):c.1046A>G (p.Asn349Ser)not provided [RCV002725790]uncertain significance165858151458581514Humanname
156273999CV2023374single nucleotide variantNM_014516.4(CNOT3):c.1736C>T (p.Pro579Leu)Inborn genetic diseases [RCV002746736]|not provided [RCV002746735]uncertain significance195415245854152458Human1name
156258173CV2026018single nucleotide variantNM_014516.4(CNOT3):c.1025G>T (p.Gly342Val)Inborn genetic diseases [RCV002746215]|not provided [RCV002746214]|not specified [RCV005406512]likely benign|uncertain significance195414827854148278Human1name
156040474CV2026359single nucleotide variantNM_014516.4(CNOT3):c.1249G>A (p.Gly417Ser)not provided [RCV002736164]uncertain significance195414850254148502Humanname
156053261CV2027474single nucleotide variantNM_014516.4(CNOT3):c.1447G>C (p.Val483Leu)not provided [RCV002736581]uncertain significance195414960054149600Humanname
156096413CV2030984single nucleotide variantNM_016284.5(CNOT1):c.2282A>G (p.Asn761Ser)Inborn genetic diseases [RCV005321231]|not provided [RCV002761144]likely benign|uncertain significance165855852358558523Human1name
156064955CV2065536single nucleotide variantNM_016284.5(CNOT1):c.2419A>T (p.Arg807Trp)not provided [RCV002846896]uncertain significance165855690758556907Humanname
155968581CV2066191single nucleotide variantNM_016284.5(CNOT1):c.1590G>T (p.Gln530His)not provided [RCV002841969]uncertain significance165857657758576577Humanname
156227363CV2115409single nucleotide variantNM_014516.4(CNOT3):c.1007C>G (p.Thr336Ser)not provided [RCV002918800]uncertain significance195414826054148260Humanname
156037265CV2120013single nucleotide variantNM_016284.5(CNOT1):c.1641G>A (p.Met547Ile)not provided [RCV002949475]likely benign165857652658576526Humanname
156150662CV2131723single nucleotide variantNM_016284.5(CNOT1):c.2299A>G (p.Ser767Gly)Inborn genetic diseases [RCV002982640]|not provided [RCV002982639]likely benign165855850658558506Human1name
156318209CV2137869single nucleotide variantNM_016284.5(CNOT1):c.2023G>A (p.Ala675Thr)not provided [RCV002963029]uncertain significance165856031958560319Humanname
156319792CV2137984single nucleotide variantNM_016284.5(CNOT1):c.1612A>G (p.Ile538Val)not provided [RCV002963123]uncertain significance165857655558576555Humanname
156202730CV2150157single nucleotide variantNM_016284.5(CNOT1):c.1555A>G (p.Ile519Val)not provided [RCV003006382]uncertain significance165857872858578728Humanname
156331444CV2187997single nucleotide variantNM_016284.5(CNOT1):c.2055A>T (p.Arg685Ser)not provided [RCV003063721]uncertain significance165856028758560287Humanname
156054117CV2192589single nucleotide variantNM_014516.4(CNOT3):c.2161C>T (p.Gln721Ter)not provided [RCV003037015]uncertain significance195415383854153838Humanname
156315612CV2192924single nucleotide variantNM_144571.3(CNOT6L):c.428A>G (p.Asn143Ser)not specified [RCV004069485]uncertain significance47775692477756924Humanname
156148952CV2197060single nucleotide variantNM_001301073.2(CNOT8):c.52A>G (p.Ser18Gly)not specified [RCV004071502]uncertain significance5154863330154863330Humanname
156366505CV2203343single nucleotide variantNM_015442.3(CNOT10):c.853A>G (p.Met285Val)not specified [RCV004072575]uncertain significance33272022232720222Humanname
156135492CV2213401single nucleotide variantNM_014516.4(CNOT3):c.1400G>C (p.Ser467Thr)Inborn genetic diseases [RCV002696721]likely benign195414873754148737Human1name
156134133CV2216981single nucleotide variantNM_144571.3(CNOT6L):c.554C>T (p.Pro185Leu)not specified [RCV004085346]uncertain significance47774832177748321Humanname
156390061CV2223014single nucleotide variantNM_015442.3(CNOT10):c.703T>C (p.Cys235Arg)not specified [RCV004103601]uncertain significance33271719632717196Humanname
156299041CV2248585single nucleotide variantNM_014516.4(CNOT3):c.1187G>A (p.Ser396Asn)Inborn genetic diseases [RCV002807939]|not provided [RCV005099662]likely benign195414844054148440Human1name
156359797CV2257949single nucleotide variantNM_015442.3(CNOT10):c.371G>A (p.Arg124Gln)not specified [RCV004129763]uncertain significance33270876132708761Humanname
156359154CV2261015single nucleotide variantNM_017546.5(CNOT11):c.609G>C (p.Gln203His)not specified [RCV004127678]uncertain significance2101257885101257885Humanname
155970445CV2262235single nucleotide variantNM_014516.4(CNOT3):c.1389C>A (p.Asn463Lys)Inborn genetic diseases [RCV002817655]uncertain significance195414872654148726Human1name
156148267CV2265264single nucleotide variantNM_016284.5(CNOT1):c.1862A>G (p.Lys621Arg)Inborn genetic diseases [RCV002826627]|Vissers-Bodmer syndrome [RCV004784112]uncertain significance165857472658574726Human2name
156153066CV2265961single nucleotide variantNM_015442.3(CNOT10):c.674C>T (p.Ala225Val)not specified [RCV004126801]uncertain significance33271716732717167Humanname
156361256CV2269201single nucleotide variantNM_016284.5(CNOT1):c.2507C>A (p.Ala836Glu)Inborn genetic diseases [RCV002812859]uncertain significance165855588158555881Human1name
156345545CV2291090single nucleotide variantNM_016284.5(CNOT1):c.1838T>C (p.Ile613Thr)Inborn genetic diseases [RCV002900810]uncertain significance165857475058574750Human1name
156186217CV2295006single nucleotide variantNM_016284.5(CNOT1):c.1459G>T (p.Ala487Ser)Inborn genetic diseases [RCV002892262]uncertain significance165857882458578824Human1name
156192124CV2301864single nucleotide variantNM_014516.4(CNOT3):c.1628T>G (p.Leu543Trp)Inborn genetic diseases [RCV002892605]uncertain significance195415224854152248Human1name
156248491CV2307206single nucleotide variantNM_015442.3(CNOT10):c.607C>T (p.His203Tyr)not specified [RCV004159673]uncertain significance33271625832716258Humanname
156303736CV2308454single nucleotide variantNM_014515.7(CNOT2):c.1148C>A (p.Thr383Lys)Inborn genetic diseases [RCV002898180]uncertain significance127033879270338792Human1name
156210208CV2309654single nucleotide variantNM_014516.4(CNOT3):c.1624T>A (p.Ser542Thr)Inborn genetic diseases [RCV002875408]uncertain significance195415224454152244Human1name
156289141CV2309655single nucleotide variantNM_014516.4(CNOT3):c.1625C>T (p.Ser542Phe)Inborn genetic diseases [RCV002897045]uncertain significance195415224554152245Human1name
156200802CV2313103single nucleotide variantNM_017546.5(CNOT11):c.349C>G (p.Leu117Val)not specified [RCV004161374]uncertain significance2101253313101253313Humanname
156210575CV2314309single nucleotide variantNM_014516.4(CNOT3):c.1423G>T (p.Ala475Ser)Inborn genetic diseases [RCV002893741]uncertain significance195414957654149576Human1name
156396138CV2326114single nucleotide variantNM_016284.5(CNOT1):c.1394A>G (p.Gln465Arg)Inborn genetic diseases [RCV002944830]uncertain significance165857888958578889Human1name
156217663CV2348170single nucleotide variantNM_015442.3(CNOT10):c.370C>T (p.Arg124Trp)not specified [RCV004190814]uncertain significance33270876032708760Humanname
156080105CV2351241single nucleotide variantNM_015442.3(CNOT10):c.808G>A (p.Val270Met)not specified [RCV004214088]uncertain significance33272017732720177Humanname
156172158CV2380783single nucleotide variantNM_014516.4(CNOT3):c.1526C>T (p.Thr509Met)Inborn genetic diseases [RCV002698874]uncertain significance195414967954149679Human1name
156391161CV2385141single nucleotide variantNM_016284.5(CNOT1):c.2036A>G (p.Asn679Ser)Inborn genetic diseases [RCV002724780]likely benign165856030658560306Human1name
156051841CV2386452single nucleotide variantNM_014516.4(CNOT3):c.1165C>T (p.Arg389Trp)Inborn genetic diseases [RCV002704994]uncertain significance195414841854148418Human1name
243058603CV2405170single nucleotide variantNM_014516.4(CNOT3):c.1166G>A (p.Arg389Gln)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005417569]uncertain significance195414841954148419Human1name
243058964CV2407519single nucleotide variantNM_014516.4(CNOT3):c.1358A>T (p.Gln453Leu)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003145069]uncertain significance195414869554148695Human1name
243058965CV2407520single nucleotide variantNM_014516.4(CNOT3):c.1151G>A (p.Ser384Asn)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003145070]uncertain significance195414840454148404Human1name
243058967CV2407521single nucleotide variantNM_014516.4(CNOT3):c.1085G>A (p.Ser362Asn)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003145071]uncertain significance195414833854148338Human1name
243059119CV2415512single nucleotide variantNM_014516.4(CNOT3):c.1754C>T (p.Pro585Leu)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003148090]uncertain significance195415247654152476Human1name
329365736CV2441088single nucleotide variantNM_015442.3(CNOT10):c.652A>C (p.Ile218Leu)not specified [RCV004261447]uncertain significance33271630332716303Humanname
329351881CV2476644single nucleotide variantNM_016284.5(CNOT1):c.1654T>C (p.Tyr552His)not provided [RCV003222876]uncertain significance165857651358576513Humanname
329350854CV2477684single nucleotide variantNM_014516.4(CNOT3):c.2011C>T (p.Leu671Phe)not provided [RCV003223796]uncertain significance195415297354152973Humanname
329351024CV2477854single nucleotide variantNM_016284.5(CNOT1):c.2450C>T (p.Pro817Leu)not provided [RCV003223967]uncertain significance165855687658556876Humanname
329954576CV2669125single nucleotide variantNM_014516.4(CNOT3):c.2209A>G (p.Lys737Glu)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003232958]likely pathogenic195415535454155354Human1name
401774400CV2691722single nucleotide variantNM_016284.5(CNOT1):c.1016A>C (p.Glu339Ala)Inborn genetic diseases [RCV003285739]uncertain significance165858282158582821Human1name
401760014CV2698708single nucleotide variantNM_014516.4(CNOT3):c.1040C>G (p.Ala347Gly)Inborn genetic diseases [RCV003280361]likely benign195414829354148293Human1name
401761893CV2699447single nucleotide variantNM_014516.4(CNOT3):c.1310C>T (p.Pro437Leu)Inborn genetic diseases [RCV003281009]likely benign195414864754148647Human1name
401764174CV2700517single nucleotide variantNM_016284.5(CNOT1):c.2959C>G (p.His987Asp)Inborn genetic diseases [RCV003281764]uncertain significance165855379358553793Human1name
401731289CV2701295single nucleotide variantNM_016284.5(CNOT1):c.1397A>G (p.Tyr466Cys)Inborn genetic diseases [RCV003271680]uncertain significance165857888658578886Human1name
401722075CV2706358single nucleotide variantNM_014516.4(CNOT3):c.1795G>A (p.Val599Ile)Inborn genetic diseases [RCV003267881]uncertain significance195415251754152517Human1name
401738919CV2708217single nucleotide variantNM_016284.5(CNOT1):c.2906C>T (p.Pro969Leu)Inborn genetic diseases [RCV003291992]uncertain significance165855384658553846Human1name
401740002CV2709766single nucleotide variantNM_015442.3(CNOT10):c.752C>T (p.Pro251Leu)not specified [RCV004320750]uncertain significance33272012132720121Humanname
401731805CV2712163single nucleotide variantNM_016284.5(CNOT1):c.1495C>T (p.Arg499Cys)Inborn genetic diseases [RCV003271846]uncertain significance165857878858578788Human1name
401765328CV2712648single nucleotide variantNM_016284.5(CNOT1):c.1948A>G (p.Thr650Ala)Inborn genetic diseases [RCV003282228]uncertain significance165857464058574640Human1name
401736970CV2717868single nucleotide variantNM_015442.3(CNOT10):c.451G>A (p.Val151Met)not specified [RCV004321840]uncertain significance33271324732713247Humanname
401767708CV2729851single nucleotide variantNM_017546.5(CNOT11):c.604C>T (p.Arg202Cys)not specified [RCV004332858]uncertain significance2101257880101257880Humanname
401729487CV2733092single nucleotide variantNM_017546.5(CNOT11):c.921C>G (p.Asp307Glu)not specified [RCV004332024]uncertain significance2101264933101264933Humanname
401725957CV2736012single nucleotide variantNM_014516.4(CNOT3):c.1456G>A (p.Gly486Ser)not provided [RCV003312457]uncertain significance195414960954149609Humanname
401798004CV2739172single nucleotide variantNM_016284.5(CNOT1):c.2360C>T (p.Thr787Ile)not provided [RCV003318820]uncertain significance165855696658556966Humanname
401798312CV2739315single nucleotide variantNM_016284.5(CNOT1):c.2756G>A (p.Gly919Asp)not provided [RCV003318963]uncertain significance165855538658555386Humanname
401797730CV2741078single nucleotide variantNM_014516.4(CNOT3):c.1094C>A (p.Ser365Ter)not provided [RCV003322242]likely pathogenic195414834754148347Humanname
401799011CV2741586single nucleotide variantNM_016284.5(CNOT1):c.1297A>G (p.Ile433Val)not provided [RCV003322994]uncertain significance165858067958580679Humanname
401830636CV2748260single nucleotide variantNM_014516.4(CNOT3):c.1274G>A (p.Gly425Asp)not provided [RCV003329869]uncertain significance195414852754148527Humanname
401871341CV2749532single nucleotide variantNM_016284.5(CNOT1):c.2585C>A (p.Pro862Gln)not provided [RCV003332660]uncertain significance165855580358555803Humanname
401889965CV2762037single nucleotide variantNM_015442.3(CNOT10):c.881T>C (p.Met294Thr)not specified [RCV004341857]uncertain significance33272546832725468Humanname
401862694CV2762350single nucleotide variantNM_017546.5(CNOT11):c.634A>G (p.Met212Val)not specified [RCV004335462]uncertain significance2101257910101257910Humanname
401888785CV2764700single nucleotide variantNM_017546.5(CNOT11):c.863C>T (p.Pro288Leu)not specified [RCV004334817]uncertain significance2101264875101264875Humanname
401869754CV2772509single nucleotide variantNM_014516.4(CNOT3):c.1510C>T (p.Pro504Ser)Inborn genetic diseases [RCV003345906]uncertain significance195414966354149663Human1name
401898454CV2787932single nucleotide variantNM_014516.4(CNOT3):c.1082C>G (p.Pro361Arg)Inborn genetic diseases [RCV003376633]uncertain significance195414833554148335Human1name
401884482CV2789696single nucleotide variantNM_016284.5(CNOT1):c.2182C>G (p.Pro728Ala)Inborn genetic diseases [RCV003386478]uncertain significance165855862358558623Human1name
401860581CV2794522single nucleotide variantNM_016284.5(CNOT1):c.2906C>G (p.Pro969Arg)not provided [RCV003387690]uncertain significance165855384658553846Humanname
401903313CV2807993single nucleotide variantNM_016284.5(CNOT1):c.2463G>T (p.Gln821His)not provided [RCV003419349]uncertain significance165855686358556863Humanname
401929180CV2818743single nucleotide variantNM_014516.4(CNOT3):c.1003A>C (p.Ser335Arg)not provided [RCV003407104]uncertain significance195414825654148256Humanname
401937399CV2818744single nucleotide variantNM_014516.4(CNOT3):c.1204G>A (p.Gly402Ser)not provided [RCV003415409]benign195414845754148457Humanname
401937400CV2818745single nucleotide variantNM_014516.4(CNOT3):c.1435G>A (p.Gly479Arg)not provided [RCV003415410]uncertain significance195414958854149588Humanname
401912875CV2830053single nucleotide variantNM_014516.4(CNOT3):c.1000T>G (p.Leu334Val)not provided [RCV003441267]uncertain significance195414825354148253Humanname
401913312CV2830317single nucleotide variantNM_014516.4(CNOT3):c.1939C>T (p.Pro647Ser)not provided [RCV003441532]uncertain significance195415290154152901Humanname
401943713CV2840160single nucleotide variantNM_016284.5(CNOT1):c.2903A>G (p.Tyr968Cys)not provided [RCV003456935]uncertain significance165855384958553849Humanname
404989496CV2849838single nucleotide variantNM_016284.5(CNOT1):c.1438T>C (p.Cys480Arg)not provided [RCV003490580]uncertain significance165857884558578845Humanname
402474397CV2858156single nucleotide variantNM_016284.5(CNOT1):c.1000C>A (p.His334Asn)not provided [RCV003543125]uncertain significance165858283758582837Humanname
402506460CV2927798single nucleotide variantNM_016284.5(CNOT1):c.1744G>A (p.Val582Ile)not provided [RCV003574453]uncertain significance165857509058575090Humanname
402487511CV2928558single nucleotide variantNM_016284.5(CNOT1):c.1892T>A (p.Leu631His)not provided [RCV003572680]uncertain significance165857469658574696Humanname
402515702CV2936230single nucleotide variantNM_014516.4(CNOT3):c.1253G>C (p.Gly418Ala)not provided [RCV003662843]uncertain significance195414850654148506Humanname
405068243CV2936648single nucleotide variantNM_014516.4(CNOT3):c.1046C>T (p.Pro349Leu)not provided [RCV003659141]uncertain significance195414829954148299Humanname
405182714CV2952651single nucleotide variantNM_016284.5(CNOT1):c.1013T>C (p.Val338Ala)not provided [RCV003676386]uncertain significance165858282458582824Humanname
405182337CV3024350single nucleotide variantNM_016284.5(CNOT1):c.1953G>A (p.Met651Ile)not provided [RCV003705585]uncertain significance165857463558574635Humanname
405180469CV3027697single nucleotide variantNM_014516.4(CNOT3):c.1313C>T (p.Ala438Val)not provided [RCV003705401]uncertain significance195414865054148650Humanname
405069574CV3031088single nucleotide variantNM_014516.4(CNOT3):c.1064C>T (p.Pro355Leu)not provided [RCV003698237]uncertain significance195414831754148317Humanname
402507921CV3036176single nucleotide variantNM_016284.5(CNOT1):c.2015C>A (p.Thr672Asn)not provided [RCV003715387]uncertain significance165856032758560327Humanname
405267606CV3186870single nucleotide variantNM_016284.5(CNOT1):c.1792G>C (p.Asp598His)not provided [RCV003886953]uncertain significance165857504258575042Humanname
405269002CV3187187single nucleotide variantNM_016284.5(CNOT1):c.2477C>T (p.Pro826Leu)not provided [RCV003887271]uncertain significance165855684958556849Humanname
405701583CV3226007single nucleotide variantNM_014516.4(CNOT3):c.1579C>T (p.Gln527Ter)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003989449]pathogenic195414973254149732Human1name
405673921CV3304565single nucleotide variantNM_016284.5(CNOT1):c.2015C>G (p.Thr672Ser)Inborn genetic diseases [RCV004441950]|not provided [RCV005104614]uncertain significance165856032758560327Human1name
405673924CV3304566single nucleotide variantNM_016284.5(CNOT1):c.2269C>G (p.Leu757Val)Inborn genetic diseases [RCV004441951]uncertain significance165855853658558536Human1name
405673930CV3304567single nucleotide variantNM_016284.5(CNOT1):c.2380C>T (p.Leu794Phe)Inborn genetic diseases [RCV004441952]uncertain significance165855694658556946Human1name
405673933CV3304568single nucleotide variantNM_016284.5(CNOT1):c.2585C>T (p.Pro862Leu)Inborn genetic diseases [RCV004441953]uncertain significance165855580358555803Human1name
405674087CV3304582single nucleotide variantNM_015442.3(CNOT10):c.352G>A (p.Val118Ile)not specified [RCV004441967]uncertain significance33270874232708742Humanname
405674091CV3304583single nucleotide variantNM_015442.3(CNOT10):c.551A>G (p.Asn184Ser)not specified [RCV004441968]uncertain significance33271334732713347Humanname
405674095CV3304584single nucleotide variantNM_015442.3(CNOT10):c.649A>C (p.Lys217Gln)not specified [RCV004441969]uncertain significance33271630032716300Humanname
405674099CV3304585single nucleotide variantNM_015442.3(CNOT10):c.835G>A (p.Ala279Thr)not specified [RCV004441970]uncertain significance33272020432720204Humanname
405674102CV3304586single nucleotide variantNM_015442.3(CNOT10):c.944A>G (p.Tyr315Cys)not specified [RCV004441971]uncertain significance33272553132725531Humanname
405674116CV3304589single nucleotide variantNM_017546.5(CNOT11):c.879T>G (p.Ile293Met)not specified [RCV004441974]uncertain significance2101264891101264891Humanname
405674143CV3304595single nucleotide variantNM_014516.4(CNOT3):c.1013C>T (p.Pro338Leu)Inborn genetic diseases [RCV004441980]uncertain significance195414826654148266Human1name
405674148CV3304596single nucleotide variantNM_014516.4(CNOT3):c.1081C>T (p.Pro361Ser)Inborn genetic diseases [RCV004441981]uncertain significance195414833454148334Human1name
405674152CV3304597single nucleotide variantNM_014516.4(CNOT3):c.1331G>C (p.Ser444Thr)Inborn genetic diseases [RCV004441982]uncertain significance195414866854148668Human1name
405674156CV3304598single nucleotide variantNM_014516.4(CNOT3):c.1568A>G (p.Asn523Ser)Inborn genetic diseases [RCV004441983]uncertain significance195414972154149721Human1name
405674161CV3304599single nucleotide variantNM_014516.4(CNOT3):c.1748A>C (p.Gln583Pro)Complex neurodevelopmental disorder [RCV005358101]|Inborn genetic diseases [RCV004441984]likely benign|uncertain significance195415247054152470Human2name
405674165CV3304600single nucleotide variantNM_014516.4(CNOT3):c.1778T>A (p.Ile593Lys)Inborn genetic diseases [RCV004441985]uncertain significance195415250054152500Human1name
405674169CV3304601single nucleotide variantNM_014516.4(CNOT3):c.1819C>G (p.Leu607Val)Inborn genetic diseases [RCV004441986]uncertain significance195415254154152541Human1name
405674175CV3304602single nucleotide variantNM_014516.4(CNOT3):c.1861G>A (p.Ala621Thr)Inborn genetic diseases [RCV004441987]uncertain significance195415258354152583Human1name
405674186CV3304604single nucleotide variantNM_014516.4(CNOT3):c.2249G>C (p.Arg750Pro)Inborn genetic diseases [RCV004441989]uncertain significance195415539454155394Human1name
405674235CV3304615single nucleotide variantNM_001370472.1(CNOT6):c.34C>T (p.Arg12Trp)not specified [RCV004442000]uncertain significance5180529310180529310Humanname
405674254CV3304620single nucleotide variantNM_001370472.1(CNOT6):c.94G>A (p.Ala32Thr)not specified [RCV004442005]uncertain significance5180529370180529370Humanname
407428061CV3412325single nucleotide variantNM_016284.5(CNOT1):c.1894G>A (p.Ala632Thr)not provided [RCV004593493]uncertain significance165857469458574694Humanname
407429507CV3413894single nucleotide variantNM_014515.7(CNOT2):c.1232A>G (p.Gln411Arg)Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies [RCV004595303]uncertain significance127034216070342160Human1name
407470502CV3425684single nucleotide variantNM_016284.5(CNOT1):c.1844C>T (p.Ala615Val)Inborn genetic diseases [RCV004615460]likely benign165857474458574744Human1name
407470515CV3425688single nucleotide variantNM_016284.5(CNOT1):c.1898C>G (p.Pro633Arg)Inborn genetic diseases [RCV004615464]uncertain significance165857469058574690Human1name
407470520CV3425690single nucleotide variantNM_016284.5(CNOT1):c.1033C>T (p.Leu345Phe)Inborn genetic diseases [RCV004615466]uncertain significance165858280458582804Human1name
407470523CV3425691single nucleotide variantNM_016284.5(CNOT1):c.1705G>A (p.Ala569Thr)Inborn genetic diseases [RCV004615467]uncertain significance165857512958575129Human1name
407470530CV3425693single nucleotide variantNM_016284.5(CNOT1):c.1550C>T (p.Ser517Leu)Inborn genetic diseases [RCV004615469]uncertain significance165857873358578733Human1name
407470534CV3425694single nucleotide variantNM_015442.3(CNOT10):c.844C>T (p.Pro282Ser)not specified [RCV004615470]uncertain significance33272021332720213Humanname
407470542CV3425696single nucleotide variantNM_015442.3(CNOT10):c.955G>T (p.Ala319Ser)not specified [RCV004615472]uncertain significance33272554232725542Humanname
407470546CV3425697single nucleotide variantNM_015442.3(CNOT10):c.729G>A (p.Met243Ile)not specified [RCV004615473]uncertain significance33271722232717222Humanname
407470559CV3425700single nucleotide variantNM_017546.5(CNOT11):c.472C>G (p.Pro158Ala)not specified [RCV004615476]uncertain significance2101253436101253436Humanname
407470567CV3425702single nucleotide variantNM_014515.7(CNOT2):c.1343A>G (p.Tyr448Cys)Inborn genetic diseases [RCV004615478]uncertain significance127034418070344180Human1name
407470576CV3425705single nucleotide variantNM_014516.4(CNOT3):c.1811C>G (p.Pro604Arg)Inborn genetic diseases [RCV004615481]uncertain significance195415253354152533Human1name
407470579CV3425706single nucleotide variantNM_014516.4(CNOT3):c.1153A>T (p.Thr385Ser)Inborn genetic diseases [RCV004615482]uncertain significance195414840654148406Human1name
407470583CV3425707single nucleotide variantNM_014516.4(CNOT3):c.1007C>A (p.Thr336Asn)Inborn genetic diseases [RCV004615483]uncertain significance195414826054148260Human1name
407470591CV3425709single nucleotide variantNM_014516.4(CNOT3):c.1970C>T (p.Ser657Leu)Inborn genetic diseases [RCV004615485]uncertain significance195415293254152932Human1name
407470594CV3425710single nucleotide variantNM_014516.4(CNOT3):c.1633T>G (p.Ser545Ala)Inborn genetic diseases [RCV004615486]uncertain significance195415225354152253Human1name
407470596CV3425711single nucleotide variantNM_014516.4(CNOT3):c.1385A>G (p.His462Arg)Inborn genetic diseases [RCV004615487]uncertain significance195414872254148722Human1name
407470655CV3425726single nucleotide variantNM_001370472.1(CNOT6):c.65A>G (p.Glu22Gly)not specified [RCV004615502]uncertain significance5180529341180529341Humanname
407470669CV3425729single nucleotide variantNM_001301073.2(CNOT8):c.730T>C (p.Leu244=)not specified [RCV004615505]likely benign5154875290154875290Humanname
408381327CV3501313single nucleotide variantNM_014516.4(CNOT3):c.1597G>C (p.Glu533Gln)Inborn genetic diseases [RCV004981173]|not provided [RCV004727402]uncertain significance195414975054149750Human1name
408377105CV3501483single nucleotide variantNM_016284.5(CNOT1):c.2853T>G (p.Tyr951Ter)Vissers-Bodmer syndrome [RCV004727570]likely pathogenic165855528958555289Human1name
408373123CV3502202single nucleotide variantNM_014516.4(CNOT3):c.1511C>T (p.Pro504Leu)not provided [RCV004725789]uncertain significance195414966454149664Humanname
408373692CV3502325single nucleotide variantNM_016284.5(CNOT1):c.1978G>A (p.Gly660Arg)not provided [RCV004725912]uncertain significance165857461058574610Humanname
408387267CV3518781single nucleotide variantNM_014515.7(CNOT2):c.1211C>A (p.Ala404Glu)not provided [RCV004761100]uncertain significance127034213970342139Humanname
408387515CV3518878single nucleotide variantNM_016284.5(CNOT1):c.2470A>G (p.Met824Val)not provided [RCV004761197]uncertain significance165855685658556856Humanname
408388653CV3520846single nucleotide variantNM_014516.4(CNOT3):c.1652C>A (p.Ala551Asp)not provided [RCV004761679]uncertain significance195415227254152272Humanname
408390750CV3520997single nucleotide variantNM_016284.5(CNOT1):c.1310C>T (p.Pro437Leu)not provided [RCV004762819]uncertain significance165858066658580666Humanname
408394570CV3521488single nucleotide variantNM_014516.4(CNOT3):c.1994G>A (p.Arg665His)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004764285]uncertain significance195415295654152956Human1name
408389102CV3522905single nucleotide variantNM_014516.4(CNOT3):c.2232C>A (p.Tyr744Ter)not provided [RCV004769286]uncertain significance195415537754155377Humanname
408388025CV3527320single nucleotide variantNM_014516.4(CNOT3):c.1735C>T (p.Pro579Ser)not provided [RCV004773622]uncertain significance195415245754152457Humanname
408390363CV3527523single nucleotide variantNM_014516.4(CNOT3):c.1966C>T (p.His656Tyr)not provided [RCV004774790]uncertain significance195415292854152928Humanname
408390470CV3527569single nucleotide variantNM_016284.5(CNOT1):c.2097T>A (p.Ser699Arg)not provided [RCV004774836]uncertain significance165856024558560245Humanname
408386103CV3528796single nucleotide variantNM_016284.5(CNOT1):c.2546A>G (p.Asn849Ser)not provided [RCV004772629]uncertain significance165855584258555842Humanname
596922064CV3529591duplicationNM_016284.5(CNOT1):c.4205dup (p.Glu1403fs)Holoprosencephaly 12 with or without pancreatic agenesis [RCV004776467]uncertain significance165854383558543836Human1name
596931250CV3531583single nucleotide variantNM_016284.5(CNOT1):c.1926A>T (p.Gln642His)not provided [RCV004781145]uncertain significance165857466258574662Humanname
596924510CV3532289single nucleotide variantNM_014515.7(CNOT2):c.1214C>T (p.Ser405Phe)not provided [RCV004777400]uncertain significance127034214270342142Humanname
596921882CV3535510single nucleotide variantNM_014516.4(CNOT3):c.1931C>T (p.Pro644Leu)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004785065]uncertain significance195415289354152893Human1name
596925151CV3536939single nucleotide variantNM_016284.5(CNOT1):c.2455T>C (p.Phe819Leu)Vissers-Bodmer syndrome [RCV004785933]uncertain significance165855687158556871Human1name
596928468CV3540419single nucleotide variantNM_016284.5(CNOT1):c.1042C>A (p.Leu348Met)Vissers-Bodmer syndrome [RCV004794746]uncertain significance165858279558582795Human1name
596943688CV3543003single nucleotide variantNM_014515.7(CNOT2):c.1574C>T (p.Pro525Leu)not provided [RCV004798588]uncertain significance127035386670353866Humanname
596944945CV3543599single nucleotide variantNM_016284.5(CNOT1):c.1244A>G (p.Asn415Ser)not provided [RCV004801721]uncertain significance165858073258580732Humanname
596942623CV3544180single nucleotide variantNM_014516.4(CNOT3):c.1037C>G (p.Pro346Arg)not specified [RCV004800171]uncertain significance195414829054148290Humanname
596946889CV3546946single nucleotide variantNM_014516.4(CNOT3):c.2095C>T (p.His699Tyr)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810752]likely pathogenic195415377254153772Human1name
596946890CV3546947single nucleotide variantNM_014516.4(CNOT3):c.2204G>T (p.Arg735Leu)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810753]likely pathogenic195415534954155349Human1name
596946891CV3546948single nucleotide variantNM_014516.4(CNOT3):c.2240T>C (p.Leu747Pro)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810754]likely pathogenic195415538554155385Human1name
596947512CV3549069single nucleotide variantNM_014516.4(CNOT3):c.1569T>A (p.Asn523Lys)not provided [RCV004811393]uncertain significance195414972254149722Humanname
596938887CV3549878single nucleotide variantNM_014515.7(CNOT2):c.1478C>T (p.Thr493Ile)not provided [RCV004812919]uncertain significance127034626670346266Humanname
597648359CV3551711single nucleotide variantNM_014516.4(CNOT3):c.2233C>T (p.Arg745Cys)not provided [RCV004820424]uncertain significance195415537854155378Humanname
597632685CV3552885single nucleotide variantNM_014516.4(CNOT3):c.2128G>C (p.Glu710Gln)not provided [RCV004823715]uncertain significance195415380554153805Humanname
597632779CV3552901single nucleotide variantNM_014516.4(CNOT3):c.1319T>G (p.Val440Gly)not provided [RCV004823731]uncertain significance195414865654148656Humanname
597798991CV3650459single nucleotide variantNM_015442.3(CNOT10):c.331A>T (p.Met111Leu)not specified [RCV004904979]uncertain significance33270872132708721Humanname
597798993CV3650460single nucleotide variantNM_017546.5(CNOT11):c.941A>C (p.Lys314Thr)not specified [RCV004904980]uncertain significance2101264953101264953Humanname
597799002CV3650465single nucleotide variantNM_017546.5(CNOT11):c.358A>G (p.Ser120Gly)not specified [RCV004904985]uncertain significance2101253322101253322Humanname
597799004CV3650466single nucleotide variantNM_017546.5(CNOT11):c.330G>C (p.Met110Ile)not specified [RCV004904986]uncertain significance2101253294101253294Humanname
597647765CV3650470single nucleotide variantNM_014515.7(CNOT2):c.1418A>G (p.Lys473Arg)Inborn genetic diseases [RCV004974076]uncertain significance127034620670346206Human1name
597647775CV3650473single nucleotide variantNM_014516.4(CNOT3):c.1703G>A (p.Arg568Gln)Inborn genetic diseases [RCV004974078]uncertain significance195415232354152323Human1name
597647785CV3650475single nucleotide variantNM_014516.4(CNOT3):c.1694T>G (p.Leu565Arg)Inborn genetic diseases [RCV004974080]uncertain significance195415231454152314Human1name
597647798CV3650479single nucleotide variantNM_014516.4(CNOT3):c.1007C>T (p.Thr336Ile)Inborn genetic diseases [RCV004974083]uncertain significance195414826054148260Human1name
597799026CV3650488single nucleotide variantNM_001370472.1(CNOT6):c.83A>G (p.Lys28Arg)not specified [RCV004904998]uncertain significance5180529359180529359Humanname
597799042CV3650496single nucleotide variantNM_144571.3(CNOT6L):c.770G>T (p.Arg257Leu)not specified [RCV004905006]uncertain significance47774224377742243Humanname
597799044CV3650497single nucleotide variantNM_144571.3(CNOT6L):c.853A>G (p.Ile285Val)not specified [RCV004905007]uncertain significance47774216077742160Humanname
597799056CV3650503single nucleotide variantNM_001301073.2(CNOT8):c.85G>C (p.Glu29Gln)not specified [RCV004905013]uncertain significance5154863363154863363Humanname
597647707CV3653946single nucleotide variantNM_016284.5(CNOT1):c.1508T>C (p.Ile503Thr)Inborn genetic diseases [RCV004974065]uncertain significance165857877558578775Human1name
597647719CV3653948single nucleotide variantNM_016284.5(CNOT1):c.1945G>T (p.Ala649Ser)Inborn genetic diseases [RCV004974067]uncertain significance165857464358574643Human1name
597647730CV3653951single nucleotide variantNM_016284.5(CNOT1):c.2499G>C (p.Trp833Cys)Inborn genetic diseases [RCV004974069]uncertain significance165855588958555889Human1name
597798978CV3653958single nucleotide variantNM_015442.3(CNOT10):c.329G>A (p.Ser110Asn)not specified [RCV004904972]uncertain significance33270871932708719Humanname
597862248CV3766471single nucleotide variantNM_016284.5(CNOT1):c.2365A>G (p.Ile789Val)not provided [RCV005106196]uncertain significance165855696158556961Humanname
597874662CV3775524single nucleotide variantNM_014516.4(CNOT3):c.1055C>T (p.Ala352Val)not provided [RCV005123254]uncertain significance195414830854148308Humanname
597953204CV3795488single nucleotide variantNM_016284.5(CNOT1):c.1135T>G (p.Tyr379Asp)not provided [RCV005136498]uncertain significance165858142558581425Humanname
597963724CV3795895single nucleotide variantNM_016284.5(CNOT1):c.1105C>T (p.Arg369Cys)Inborn genetic diseases [RCV005323737]|not provided [RCV005139385]uncertain significance165858145558581455Human1name
597857908CV3816993single nucleotide variantNM_014516.4(CNOT3):c.1126G>A (p.Ala376Thr)not provided [RCV005146374]|not specified [RCV005417503]uncertain significance195414837954148379Humanname
597972148CV3829482single nucleotide variantNM_014516.4(CNOT3):c.1591G>A (p.Ala531Thr)not provided [RCV005167269]likely benign195414974454149744Humanname
597831349CV3830751single nucleotide variantNM_016284.5(CNOT1):c.2042T>C (p.Met681Thr)not provided [RCV005170149]uncertain significance165856030058560300Humanname
597866330CV3834445single nucleotide variantNM_016284.5(CNOT1):c.1613T>C (p.Ile538Thr)not provided [RCV005175812]uncertain significance165857655458576554Humanname
597868131CV3858248single nucleotide variantNM_016284.5(CNOT1):c.1045A>C (p.Asn349His)not provided [RCV005196991]uncertain significance165858151558581515Humanname
597935026CV3863593single nucleotide variantNM_014516.4(CNOT3):c.2129A>G (p.Glu710Gly)not provided [RCV005207406]uncertain significance195415380654153806Humanname
597831615CV3863876single nucleotide variantNM_014516.4(CNOT3):c.1502C>T (p.Pro501Leu)Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005208290]uncertain significance195414965554149655Human1name
598125781CV3885933single nucleotide variantNM_016284.5(CNOT1):c.2708C>G (p.Pro903Arg)not provided [RCV005241736]uncertain significance165855543458555434Humanname
598125935CV3885986single nucleotide variantNM_016284.5(CNOT1):c.1901A>G (p.Glu634Gly)Inborn genetic diseases [RCV005315857]|not provided [RCV005241789]uncertain significance165857468758574687Human1name
598176328CV3891157single nucleotide variantNM_014516.4(CNOT3):c.1519T>C (p.Ser507Pro)not provided [RCV005252010]uncertain significance195414967254149672Humanname
598159741CV3897150single nucleotide variantNM_014515.7(CNOT2):c.1063T>C (p.Phe355Leu)not provided [RCV005368124]uncertain significance127033870770338707Humanname
598257793CV3941290single nucleotide variantNM_016284.5(CNOT1):c.1310C>A (p.Pro437Gln)Inborn genetic diseases [RCV005324488]uncertain significance165858066658580666Human1name
598257812CV3941296single nucleotide variantNM_015442.3(CNOT10):c.478A>G (p.Ile160Val)not specified [RCV005324493]uncertain significance33271327432713274Humanname
598257823CV3941298single nucleotide variantNM_015442.3(CNOT10):c.914C>T (p.Ala305Val)not specified [RCV005324495]uncertain significance33272550132725501Humanname
598257832CV3941300single nucleotide variantNM_017546.5(CNOT11):c.911C>T (p.Thr304Met)not specified [RCV005324497]uncertain significance2101264923101264923Humanname
598257836CV3941301single nucleotide variantNM_017546.5(CNOT11):c.533C>G (p.Thr178Ser)not specified [RCV005324498]uncertain significance2101257809101257809Humanname
598257844CV3941303single nucleotide variantNM_014516.4(CNOT3):c.1012C>G (p.Pro338Ala)Inborn genetic diseases [RCV005324500]uncertain significance195414826554148265Human1name
598257847CV3941304single nucleotide variantNM_014516.4(CNOT3):c.1189G>T (p.Gly397Ter)Inborn genetic diseases [RCV005324501]pathogenic195414844254148442Human1name
598257853CV3941306single nucleotide variantNM_014516.4(CNOT3):c.1171C>T (p.Pro391Ser)Inborn genetic diseases [RCV005324503]likely benign195414842454148424Human1name
598257860CV3941309single nucleotide variantNM_014516.4(CNOT3):c.1454C>T (p.Pro485Leu)Inborn genetic diseases [RCV005324505]uncertain significance195414960754149607Human1name
598257870CV3941311single nucleotide variantNM_014516.4(CNOT3):c.1210G>A (p.Gly404Arg)Inborn genetic diseases [RCV005324507]uncertain significance195414846354148463Human1name
616938202CV4013127single nucleotide variantNM_014516.4(CNOT3):c.1076C>T (p.Pro359Leu)not provided [RCV005410594]uncertain significance195414832954148329Humanname
616937869CV4013286single nucleotide variantNM_016284.5(CNOT1):c.2536G>A (p.Asp846Asn)not provided [RCV005410753]uncertain significance165855585258555852Humanname
616937444CV4013432single nucleotide variantNM_016284.5(CNOT1):c.2560C>T (p.Arg854Ter)Vissers-Bodmer syndrome [RCV005410995]likely pathogenic165855582858555828Human1name
616937759CV4014828single nucleotide variantNM_014516.4(CNOT3):c.1587C>G (p.Ser529Arg)not provided [RCV005411844]uncertain significance195414974054149740Humanname
616936156CV4016220single nucleotide variantNM_016284.5(CNOT1):c.1982G>A (p.Ser661Asn)not provided [RCV005415086]uncertain significance165856036058560360Humanname
617150334CV4021714single nucleotide variantNM_014516.4(CNOT3):c.2066A>G (p.Lys689Arg)not provided [RCV005425683]uncertain significance195415374354153743Humanname
617154498CV4022437single nucleotide variantNM_016284.5(CNOT1):c.1177G>A (p.Asp393Asn)not provided [RCV005429794]uncertain significance165858138358581383Humanname
617154207CV4022467single nucleotide variantNM_014516.4(CNOT3):c.1654A>C (p.Ile552Leu)not provided [RCV005429824]uncertain significance195415227454152274Humanname
39456421CV965549single nucleotide variantNM_016284.5(CNOT1):c.1240A>G (p.Ile414Val)Holoprosencephaly 12 with or without pancreatic agenesis [RCV004799299]uncertain significance165858073658580736Human1name
40816262CV966901single nucleotide variantNM_016284.5(CNOT1):c.2698C>T (p.Arg900Cys)Vissers-Bodmer syndrome [RCV001257580]pathogenic165855544458555444Human1name
40815062CV970348single nucleotide variantNM_014516.4(CNOT3):c.1564C>A (p.Leu522Ile)Moyamoya angiopathy with developmental delay [RCV001261734]likely pathogenic195414971754149717Humanname