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More than 1000 records found for search term Grin2b (Displaying 1000)
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11610644CV323870single nucleotide variantNM_000834.5(GRIN2B):c.-9G>TIntellectual Disability, Dominant [RCV000384107]uncertain significance121386621713866217Human1name
616933372CV4011458single nucleotide variantNM_000834.5(GRIN2B):c.*1G>Cnot specified [RCV005407539]uncertain significance121356278213562782Humanname
8691257CV141217single nucleotide variantNM_000834.5(GRIN2B):c.-15G>Anot provided [RCV004708019]|not specified [RCV000125318]benign|likely benign121386622313866223Humanname
10396106CV202682single nucleotide variantNM_000834.5(GRIN2B):c.-10C>Tnot provided [RCV000187691]uncertain significance121386621813866218Humanname
11523943CV244816single nucleotide variantNM_000834.5(GRIN2B):c.-12G>Anot specified [RCV000236791]likely benign121386622013866220Humanname
11606631CV316404single nucleotide variantNM_000834.4(GRIN2B):c.*30C>GIntellectual Disability, Dominant [RCV000333974]uncertain significance121356275313562753Humanname
14743836CV656126single nucleotide variantNM_000834.5(GRIN2B):c.-47G>Tnot provided [RCV000842341]likely benign121397995613979956Humanname
150453462CV1275466deletionNM_000834.5(GRIN2B):c.-208delnot provided [RCV001706973]benign121398011713980117Humanname
11607620CV316381single nucleotide variantNM_000834.4(GRIN2B):c.*891G>TIntellectual Disability, Dominant [RCV000345509]uncertain significance121356189213561892Humanname
11608975CV316394single nucleotide variantNM_000834.5(GRIN2B):c.*293G>AIntellectual Disability, Dominant [RCV000362004]uncertain significance121356249013562490Human1name
11611502CV316398single nucleotide variantNM_000834.4(GRIN2B):c.*285G>AIntellectual Disability, Dominant [RCV000395690]uncertain significance121356249813562498Humanname
11606354CV316403single nucleotide variantNM_000834.4(GRIN2B):c.*214C>AIntellectual Disability, Dominant [RCV000330652]uncertain significance121356256913562569Humanname
11611080CV323803single nucleotide variantNM_000834.4(GRIN2B):c.*988A>GIntellectual Disability, Dominant [RCV000389607]likely benign121356179513561795Humanname
11649538CV323815single nucleotide variantNM_000834.4(GRIN2B):c.*951G>CIntellectual Disability, Dominant [RCV000288166]uncertain significance121356183213561832Humanname
11664206CV323817single nucleotide variantNM_000834.4(GRIN2B):c.*862T>CIntellectual Disability, Dominant [RCV000403372]uncertain significance121356192113561921Humanname
11603947CV323824single nucleotide variantNM_000834.4(GRIN2B):c.*342C>TIntellectual Disability, Dominant [RCV000304950]uncertain significance121356244113562441Humanname
11659294CV323825single nucleotide variantNM_000834.5(GRIN2B):c.*232T>CIntellectual Disability, Dominant [RCV000356347]uncertain significance121356255113562551Human1name
11616813CV329903single nucleotide variantNM_000834.4(GRIN2B):c.*235T>AIntellectual Disability, Dominant [RCV000298030]uncertain significance121356254813562548Humanname
11612964CV329906single nucleotide variantNM_000834.4(GRIN2B):c.*219C>TIntellectual Disability, Dominant [RCV000263881]likely benign121356256413562564Humanname
11660663CV329918single nucleotide variantNM_000834.4(GRIN2B):c.*146G>AIntellectual Disability, Dominant [RCV000368984]uncertain significance121356263713562637Humanname
11616141CV331204single nucleotide variantNM_000834.4(GRIN2B):c.*567A>CIntellectual Disability, Dominant [RCV000291839]likely benign121356221613562216Humanname
11620705CV331211single nucleotide variantNM_000834.5(GRIN2B):c.*409T>Gnot provided [RCV001693667]benign|likely benign121356237413562374Humanname
11625334CV331223single nucleotide variantNM_000834.4(GRIN2B):c.*368A>GIntellectual Disability, Dominant [RCV000397388]uncertain significance121356241513562415Humanname
21072343CV791220single nucleotide variantNM_000834.5(GRIN2B):c.-205A>TIntellectual disability, autosomal dominant 6 [RCV000988793]likely benign121398011413980114Human1name
127332603CV1122487single nucleotide variantNM_000834.5(GRIN2B):c.411+9G>AIntellectual disability, autosomal dominant 6 [RCV001472321]likely benign121386578913865789Human1name
151827956CV1423775single nucleotide variantNM_000834.5(GRIN2B):c.412-2A>GIntellectual disability, autosomal dominant 6 [RCV001977759]likely pathogenic121375391713753917Human1name
155804201CV1866622single nucleotide variantNM_000834.5(GRIN2B):c.411+4A>Cnot provided [RCV002481182]uncertain significance121386579413865794Humanname
11610785CV316379single nucleotide variantNM_000834.4(GRIN2B):c.*1164A>GIntellectual Disability, Dominant [RCV000386080]uncertain significance121356161913561619Humanname
11606557CV316380single nucleotide variantNM_000834.4(GRIN2B):c.*1074C>TIntellectual Disability, Dominant [RCV000332776]likely benign121356170913561709Humanname
11599059CV323800single nucleotide variantNM_000834.5(GRIN2B):c.*1230G>CIntellectual Disability, Dominant [RCV000262331]|not provided [RCV002275023]benign|likely benign|uncertain significance121356155313561553Human1name
11616377CV329902single nucleotide variantNM_000834.4(GRIN2B):c.*1153T>CIntellectual Disability, Dominant [RCV000293901]uncertain significance121356163013561630Humanname
11618977CV331203single nucleotide variantNM_000834.4(GRIN2B):c.*1179C>TIntellectual Disability, Dominant [RCV000319827]uncertain significance121356160413561604Humanname
597834057CV3864210single nucleotide variantNM_000834.5(GRIN2B):c.411+8G>AIntellectual disability, autosomal dominant 6 [RCV005209846]likely benign121386579013865790Human1name
8567881CV38683single nucleotide variantNM_000834.5(GRIN2B):c.411+1G>AIntellectual disability, autosomal dominant 6 [RCV000022580]pathogenic121386579713865797Human1name
597848136CV3872791single nucleotide variantNM_000834.5(GRIN2B):c.412-6T>CIntellectual disability, autosomal dominant 6 [RCV005212428]likely benign121375392113753921Human1name
15125663CV775849deletionNM_000834.5(GRIN2B):c.412-5delIntellectual disability, autosomal dominant 6 [RCV001445785]likely benign121375392013753920Human1name
21074227CV796730single nucleotide variantNM_000834.5(GRIN2B):c.411+1G>Tnot provided [RCV000994861]pathogenic|likely pathogenic121386579713865797Humanname
127251349CV1079273single nucleotide variantNM_000834.5(GRIN2B):c.1781-4C>AIntellectual disability, autosomal dominant 6 [RCV001400054]likely benign121360883613608836Human1name
127240911CV1101029single nucleotide variantNM_000834.5(GRIN2B):c.2011-5T>CInborn genetic diseases [RCV002420982]|Intellectual disability, autosomal dominant 6 [RCV001434317]likely benign|uncertain significance121357196913571969Human2name
127290888CV1122477single nucleotide variantNM_000834.5(GRIN2B):c.2598+6T>CIntellectual disability, autosomal dominant 6 [RCV001475894]likely benign121356701913567019Human1name
127325346CV1122479single nucleotide variantNM_000834.5(GRIN2B):c.2011-8C>TIntellectual disability, autosomal dominant 6 [RCV001468459]likely benign121357197213571972Human1name
127301766CV1156948single nucleotide variantNM_000834.5(GRIN2B):c.1125+9T>CIntellectual disability, autosomal dominant 6 [RCV001514817]|not provided [RCV001692405]benign121367573613675736Human1name
150501825CV1241045single nucleotide variantNM_000834.5(GRIN2B):c.-19+51A>Cnot provided [RCV001656941]benign121397987713979877Humanname
150544412CV1313326deletionNM_000834.5(GRIN2B):c.2010+1delnot provided [RCV001783401]pathogenic121360860213608602Humanname
152153574CV1523115single nucleotide variantNM_000834.5(GRIN2B):c.2172-9C>GIntellectual disability, autosomal dominant 6 [RCV002179814]benign121357002613570026Human1name
152104096CV1544636single nucleotide variantNM_000834.5(GRIN2B):c.412-20T>CIntellectual disability, autosomal dominant 6 [RCV002115720]benign121375393513753935Human1name
152032571CV1614821single nucleotide variantNM_000834.5(GRIN2B):c.412-15C>GIntellectual disability, autosomal dominant 6 [RCV002086605]likely benign121375393013753930Human1name
152049265CV1627686single nucleotide variantNM_000834.5(GRIN2B):c.411+17G>CIntellectual disability, autosomal dominant 6 [RCV002108738]likely benign121386578113865781Human1name
152049626CV1627775single nucleotide variantNM_000834.5(GRIN2B):c.1011-5T>AIntellectual disability, autosomal dominant 6 [RCV002108784]likely benign121367586413675864Human1name
152027629CV1628977single nucleotide variantNM_000834.5(GRIN2B):c.1780+8C>GIntellectual disability, autosomal dominant 6 [RCV002104957]likely benign121361171713611717Human1name
155642344CV1707341single nucleotide variantNM_000834.5(GRIN2B):c.2010+1G>CIntellectual disability, autosomal dominant 6 [RCV002288271]likely pathogenic121360860213608602Human1name
155692485CV1845708single nucleotide variantNM_000834.5(GRIN2B):c.2598+1G>TInborn genetic diseases [RCV002426185]uncertain significance121356702413567024Human1name
156173981CV1881529single nucleotide variantNM_000834.5(GRIN2B):c.2171+9T>CIntellectual disability, autosomal dominant 6 [RCV003083328]likely benign121357179513571795Human1name
156352528CV1893327single nucleotide variantNM_000834.5(GRIN2B):c.2010+5G>AIntellectual disability, autosomal dominant 6 [RCV003091091]uncertain significance121360859813608598Human1name
156362842CV1900738single nucleotide variantNM_000834.5(GRIN2B):c.2011-7T>CIntellectual disability, autosomal dominant 6 [RCV002581847]likely benign121357197113571971Human1name
155945429CV1935592single nucleotide variantNM_000834.5(GRIN2B):c.1654+1G>Anot provided [RCV002511340]pathogenic121361511313615113Humanname
156321792CV1992065single nucleotide variantNM_000834.5(GRIN2B):c.2172-6G>TIntellectual disability, autosomal dominant 6 [RCV002649295]|not provided [RCV003395500]likely benign121357002313570023Human1name
10396104CV202671single nucleotide variantNM_000834.5(GRIN2B):c.1780+8C>TGRIN2B-related disorder [RCV004539738]|Intellectual disability, autosomal dominant 6 [RCV000655343]|not specified [RCV000187689]benign|likely benign121361171713611717Human1name , alternate_id
10396101CV202683single nucleotide variantNM_000834.5(GRIN2B):c.-18-10G>Cnot provided [RCV003390915]|not specified [RCV000187686]benign|likely benign|uncertain significance121386623613866236Humanname
155907392CV2077433single nucleotide variantNM_000834.5(GRIN2B):c.1654+9T>CIntellectual disability, autosomal dominant 6 [RCV002858239]likely benign121361510513615105Human1name
156053558CV2165393deletionNM_000834.5(GRIN2B):c.2172-8delIntellectual disability, autosomal dominant 6 [RCV003019479]likely benign121357002513570025Human1name
156295157CV2183267single nucleotide variantNM_000834.5(GRIN2B):c.2599-7G>CIntellectual disability, autosomal dominant 6 [RCV003027840]likely benign121356464613564646Human1name
156164712CV2189921single nucleotide variantNM_000834.5(GRIN2B):c.1011-1G>CIntellectual disability, autosomal dominant 6 [RCV003040838]pathogenic121367586013675860Human1name
11523798CV244798single nucleotide variantNM_000834.5(GRIN2B):c.2172-6G>AIntellectual disability, autosomal dominant 6 [RCV001476776]|not provided [RCV000549757]|not specified [RCV000236415]likely benign121357002313570023Human1name
11524084CV244803single nucleotide variantNM_000834.5(GRIN2B):c.1780+9G>AIntellectual disability, autosomal dominant 6 [RCV000867805]|not provided [RCV003389770]|not specified [RCV000236898]benign121361171613611716Human1name
11524149CV244811single nucleotide variantNM_000834.5(GRIN2B):c.412-14T>CIntellectual disability, autosomal dominant 6 [RCV002057259]|not specified [RCV000236893]likely benign121375392913753929Human1name
329848461CV2523229single nucleotide variantNM_000834.5(GRIN2B):c.1500+1G>AIntellectual disability, autosomal dominant 6 [RCV003224989]likely pathogenic121361549213615492Human1name
401795872CV2742837single nucleotide variantNM_000834.5(GRIN2B):c.2599-1G>Anot provided [RCV003325353]likely pathogenic121356464013564640Humanname
405024539CV3082037single nucleotide variantNM_000834.5(GRIN2B):c.1655-9C>AIntellectual disability, autosomal dominant 6 [RCV003785643]likely benign121361185913611859Human1name
405072518CV3099911single nucleotide variantNM_000834.5(GRIN2B):c.1654+8A>GIntellectual disability, autosomal dominant 6 [RCV003799626]uncertain significance121361510613615106Human1name
405259916CV3195313single nucleotide variantNM_000834.5(GRIN2B):c.1126-9C>TGRIN2B-related disorder [RCV004534648]likely benign121361666613616666Humanname , trait , alternate_id
405291421CV3222400single nucleotide variantNM_000834.5(GRIN2B):c.1126-1G>TSee cases [RCV003985708]likely pathogenic121361665813616658Humanname
11620454CV329924single nucleotide variantNM_000834.5(GRIN2B):c.2172-8C>TIntellectual disability, autosomal dominant 6 [RCV000655346]|not specified [RCV005055859]likely benign|uncertain significance121357002513570025Human1name
407427772CV3412070single nucleotide variantNM_000834.5(GRIN2B):c.1329-9A>Gnot provided [RCV004592241]uncertain significance121361567313615673Humanname
407574431CV3499442single nucleotide variantNM_000834.5(GRIN2B):c.2011-1G>Tnot provided [RCV004719436]pathogenic121357196513571965Humanname
8567884CV38686single nucleotide variantNM_000834.5(GRIN2B):c.2360-2A>GIntellectual disability, autosomal dominant 6 [RCV000022583]pathogenic121356726513567265Human1name
597875712CV3871371single nucleotide variantNM_000834.5(GRIN2B):c.2360-6C>TIntellectual disability, autosomal dominant 6 [RCV005216585]likely benign121356726913567269Human1name
597876186CV3871410single nucleotide variantNM_000834.5(GRIN2B):c.1655-6C>AIntellectual disability, autosomal dominant 6 [RCV005216625]likely benign121361185613611856Human1name
597891166CV3871697single nucleotide variantNM_000834.5(GRIN2B):c.2010+8A>TIntellectual disability, autosomal dominant 6 [RCV005218866]likely benign121360859513608595Human1name
597878640CV3871893single nucleotide variantNM_000834.5(GRIN2B):c.1125+6A>TIntellectual disability, autosomal dominant 6 [RCV005216944]uncertain significance121367573913675739Human1name
597903292CV3873184single nucleotide variantNM_000834.5(GRIN2B):c.1501-7C>GIntellectual disability, autosomal dominant 6 [RCV005220622]likely benign121361527413615274Human1name
597858052CV3877896single nucleotide variantNM_000834.5(GRIN2B):c.1500+8T>AIntellectual disability, autosomal dominant 6 [RCV005229205]likely benign121361548513615485Human1name
597842240CV3878239single nucleotide variantNM_000834.5(GRIN2B):c.2010+9C>TIntellectual disability, autosomal dominant 6 [RCV005226728]likely benign121360859413608594Human1name
13214857CV429412single nucleotide variantNM_000834.5(GRIN2B):c.1500+7G>AIntellectual disability, autosomal dominant 6 [RCV001480401]|not provided [RCV003456404]|not specified [RCV000501617]likely benign|conflicting interpretations of pathogenicity|uncertain significance121361548613615486Human1name
13487046CV444953single nucleotide variantNM_000834.5(GRIN2B):c.1328+1G>Anot provided [RCV000523107]pathogenic121361645413616454Humanname
13483288CV444954single nucleotide variantNM_000834.5(GRIN2B):c.1126-3C>TIntellectual disability, autosomal dominant 6 [RCV001836833]|not provided [RCV000522017]uncertain significance121361666013616660Human1name
8604311CV48258single nucleotide variantNM_000834.5(GRIN2B):c.2172-2A>GIntellectual disability, autosomal dominant 6 [RCV000032863]pathogenic121357001913570019Human1name
13538845CV504242single nucleotide variantNM_000834.5(GRIN2B):c.2172-4A>GIntellectual disability, autosomal dominant 6 [RCV000867738]|not provided [RCV001707847]likely benign121357002113570021Human1name
13830067CV580048single nucleotide variantNM_000834.5(GRIN2B):c.1125+5G>AInborn genetic diseases [RCV002316681]|Intellectual disability, autosomal dominant 6 [RCV001501707]likely benign|uncertain significance121367574013675740Human2name
14398992CV614369single nucleotide variantNM_000834.5(GRIN2B):c.2011-8C>GIntellectual disability, autosomal dominant 6 [RCV000767989]conflicting interpretations of pathogenicity|uncertain significance121357197213571972Human1name
14709057CV652460single nucleotide variantNM_000834.5(GRIN2B):c.1781-3C>TGRIN2B-related disorder [RCV004538112]|Intellectual disability, autosomal dominant 6 [RCV000811008]benign|likely benign|uncertain significance121360883513608835Human1name , alternate_id
14703228CV652688single nucleotide variantNM_000834.5(GRIN2B):c.1010+3G>AIntellectual disability, autosomal dominant 6 [RCV000792799]|See cases [RCV002252237]benign|uncertain significance121375331413753314Human1name
14979411CV678961single nucleotide variantNM_000834.5(GRIN2B):c.2171+3A>GIntellectual disability [RCV000851493]pathogenic121357180113571801Human2name
15097975CV690030deletionNM_000834.5(GRIN2B):c.1126-7delIntellectual disability, autosomal dominant 6 [RCV001456332]likely benign121361666413616664Human1name
15176375CV744688single nucleotide variantNM_000834.5(GRIN2B):c.1655-5C>TIntellectual disability, autosomal dominant 6 [RCV003768794]likely benign121361185513611855Human1name
21074225CV796728single nucleotide variantNM_000834.5(GRIN2B):c.2011-4C>TIntellectual disability, autosomal dominant 6 [RCV002550667]|not provided [RCV000994858]likely benign|uncertain significance121357196813571968Human1name
26917453CV852467single nucleotide variantNM_000834.5(GRIN2B):c.1125+4A>GIntellectual disability, autosomal dominant 6 [RCV001042647]uncertain significance121367574113675741Human1name
38492022CV941028single nucleotide variantNM_000834.5(GRIN2B):c.1329-8T>AIntellectual disability, autosomal dominant 6 [RCV001223256]likely benign|uncertain significance121361567213615672Human1name
127251137CV1079277single nucleotide variantNM_000834.5(GRIN2B):c.1328+10C>TIntellectual disability, autosomal dominant 6 [RCV001417719]likely benign121361644513616445Human1name
127302268CV1156947duplicationNM_000834.5(GRIN2B):c.2172-15dupIntellectual disability, autosomal dominant 6 [RCV001514990]benign121357002613570027Human1name
150410888CV1191371single nucleotide variantNM_000834.5(GRIN2B):c.2010+25C>Tnot provided [RCV001566284]likely benign121360857813608578Humanname
150404827CV1194641single nucleotide variantNM_000834.5(GRIN2B):c.2599-29T>Cnot provided [RCV001571353]likely benign121356466813564668Humanname
150475358CV1202232deletionNM_000834.5(GRIN2B):c.411+151delnot provided [RCV001589475]likely benign121386564713865647Humanname
150489177CV1208384single nucleotide variantNM_000834.5(GRIN2B):c.2172-63G>Anot provided [RCV001592244]likely benign121357008013570080Humanname
150482417CV1209965single nucleotide variantNM_000834.5(GRIN2B):c.1125+86C>Anot provided [RCV001590663]likely benign121367565913675659Humanname
150505783CV1227474single nucleotide variantNM_000834.5(GRIN2B):c.2010+38A>Gnot provided [RCV001635552]benign121360856513608565Humanname
150512066CV1228415single nucleotide variantNM_000834.5(GRIN2B):c.2360-75T>Cnot provided [RCV001637547]|not specified [RCV004594419]benign121356733813567338Humanname
150501430CV1238395single nucleotide variantNM_000834.5(GRIN2B):c.1781-43C>Tnot provided [RCV001656825]benign121360887513608875Humanname
150483427CV1245109single nucleotide variantNM_000834.5(GRIN2B):c.1780+78T>Cnot provided [RCV001653286]benign121361164713611647Humanname
150452036CV1254906single nucleotide variantNM_000834.5(GRIN2B):c.1500+73G>Anot provided [RCV001667965]|not specified [RCV004594485]benign121361542013615420Humanname
150481658CV1258957single nucleotide variantNM_000834.5(GRIN2B):c.1329-32G>Tnot provided [RCV001686087]benign121361569613615696Humanname
150469950CV1259744single nucleotide variantNM_000834.5(GRIN2B):c.2360-67C>Tnot provided [RCV001684045]benign121356733013567330Humanname
150485656CV1280805single nucleotide variantNM_000834.5(GRIN2B):c.1126-73A>Gnot provided [RCV001715640]|not specified [RCV004598127]benign121361673013616730Humanname
150485676CV1280809single nucleotide variantNM_000834.5(GRIN2B):c.2359+59T>Cnot provided [RCV001715644]benign121356977113569771Humanname
150472994CV1281335deletionNM_000834.5(GRIN2B):c.1781-64delnot provided [RCV001713458]benign121360889613608896Humanname
150548289CV1316193single nucleotide variantNM_000834.5(GRIN2B):c.1010+37T>Cnot provided [RCV001785994]benign121375328013753280Humanname
151750554CV1335562single nucleotide variantNM_000834.5(GRIN2B):c.1654+36G>Anot provided [RCV001847404]likely benign121361507813615078Humanname
8691259CV141219single nucleotide variantNM_000834.5(GRIN2B):c.1125+20A>GIntellectual disability, autosomal dominant 6 [RCV002055565]|not provided [RCV004706574]|not specified [RCV000125323]benign121367572513675725Human1name
8691260CV141220single nucleotide variantNM_000834.5(GRIN2B):c.1126-12A>GIntellectual disability, autosomal dominant 6 [RCV002055566]|not provided [RCV004706575]|not specified [RCV000125324]benign|likely benign121361666913616669Human1name
151775853CV1463294single nucleotide variantNM_000834.5(GRIN2B):c.1010+20C>TIntellectual disability, autosomal dominant 6 [RCV001875117]likely benign|uncertain significance121375329713753297Human1name
152113009CV1539393single nucleotide variantNM_000834.5(GRIN2B):c.1501-14C>TIntellectual disability, autosomal dominant 6 [RCV002080508]likely benign121361528113615281Human1name
152088905CV1541460single nucleotide variantNM_000834.5(GRIN2B):c.1654+19G>TIntellectual disability, autosomal dominant 6 [RCV002171567]likely benign121361509513615095Human1name
152095446CV1575235single nucleotide variantNM_000834.5(GRIN2B):c.1010+10G>TIntellectual disability, autosomal dominant 6 [RCV002132563]likely benign121375330713753307Human1name
152143858CV1582432deletionNM_000834.5(GRIN2B):c.2360-10delIntellectual disability, autosomal dominant 6 [RCV002200933]likely benign121356727313567273Human1name
152112794CV1586444single nucleotide variantNM_000834.5(GRIN2B):c.1126-20T>CIntellectual disability, autosomal dominant 6 [RCV002197004]likely benign121361667713616677Human1name
152117698CV1600979single nucleotide variantNM_000834.5(GRIN2B):c.1654+20G>TIntellectual disability, autosomal dominant 6 [RCV002097719]likely benign121361509413615094Human1name
152076116CV1604469single nucleotide variantNM_000834.5(GRIN2B):c.2598+11T>CIntellectual disability, autosomal dominant 6 [RCV002092241]likely benign121356701413567014Human1name
152064136CV1606670single nucleotide variantNM_000834.5(GRIN2B):c.1126-16G>AIntellectual disability, autosomal dominant 6 [RCV002209080]likely benign121361667313616673Human1name
152175465CV1614319single nucleotide variantNM_000834.5(GRIN2B):c.1655-18C>TIntellectual disability, autosomal dominant 6 [RCV002163600]likely benign121361186813611868Human1name
152089733CV1634056single nucleotide variantNM_000834.5(GRIN2B):c.1011-10A>TIntellectual disability, autosomal dominant 6 [RCV002194141]likely benign121367586913675869Human1name
152101282CV1645778single nucleotide variantNM_000834.5(GRIN2B):c.2172-19T>GIntellectual disability, autosomal dominant 6 [RCV002173136]likely benign121357003613570036Human1name
152141091CV1660984single nucleotide variantNM_000834.5(GRIN2B):c.1780+18C>TIntellectual disability, autosomal dominant 6 [RCV002120382]likely benign121361170713611707Human1name
156403471CV1885794single nucleotide variantNM_000834.5(GRIN2B):c.2598+14T>CIntellectual disability, autosomal dominant 6 [RCV003069481]likely benign121356701113567011Human1name
156311280CV1913546single nucleotide variantNM_000834.5(GRIN2B):c.1501-15G>AIntellectual disability, autosomal dominant 6 [RCV002599672]likely benign121361528213615282Human1name
156299541CV1933393single nucleotide variantNM_000834.5(GRIN2B):c.2171+10G>TIntellectual disability, autosomal dominant 6 [RCV002629177]likely benign121357179413571794Human1name
156381818CV2060867single nucleotide variantNM_000834.5(GRIN2B):c.2599-18C>TIntellectual disability, autosomal dominant 6 [RCV002815139]likely benign121356465713564657Human1name
155970719CV2062451single nucleotide variantNM_000834.5(GRIN2B):c.1328+11C>TIntellectual disability, autosomal dominant 6 [RCV002842064]likely benign121361644413616444Human1name
156235814CV2081775single nucleotide variantNM_000834.5(GRIN2B):c.1654+19G>CIntellectual disability, autosomal dominant 6 [RCV002876414]likely benign121361509513615095Human1name
156332189CV2094893single nucleotide variantNM_000834.5(GRIN2B):c.1011-20C>AIntellectual disability, autosomal dominant 6 [RCV002899993]likely benign121367587913675879Human1name
156156167CV2096651single nucleotide variantNM_000834.5(GRIN2B):c.1654+15T>AIntellectual disability, autosomal dominant 6 [RCV002872490]likely benign121361509913615099Human1name
156206971CV2103793single nucleotide variantNM_000834.5(GRIN2B):c.1329-15T>CIntellectual disability, autosomal dominant 6 [RCV002931903]likely benign121361567913615679Human1name
156240636CV2129627single nucleotide variantNM_000834.5(GRIN2B):c.1126-16G>CIntellectual disability, autosomal dominant 6 [RCV002958855]likely benign121361667313616673Human1name
156192906CV2162275single nucleotide variantNM_000834.5(GRIN2B):c.2172-16C>TIntellectual disability, autosomal dominant 6 [RCV003041707]likely benign121357003313570033Human1name
156394057CV2181720single nucleotide variantNM_000834.5(GRIN2B):c.2171+17A>CIntellectual disability, autosomal dominant 6 [RCV003051651]likely benign121357178713571787Human1name
11523323CV244792single nucleotide variantNM_000834.5(GRIN2B):c.2599-19C>AIntellectual disability, autosomal dominant 6 [RCV002057256]|not specified [RCV000235562]benign|likely benign121356465813564658Human1name
11523377CV244804duplicationNM_000834.5(GRIN2B):c.1655-12dupIntellectual disability, autosomal dominant 6 [RCV002057261]|not provided [RCV000235802]benign|likely benign121361186113611862Human1name
11523667CV244805single nucleotide variantNM_000834.5(GRIN2B):c.1501-13G>AIntellectual disability, autosomal dominant 6 [RCV002057245]|not specified [RCV000236299]benign|likely benign121361528013615280Human1name
11523366CV244806single nucleotide variantNM_000834.5(GRIN2B):c.1328+17A>GIntellectual disability, autosomal dominant 6 [RCV002057244]|not specified [RCV000235748]benign121361643813616438Human1name
401749940CV2735778single nucleotide variantNM_001413992.1(GRIN2B):c.-684A>Gnot provided [RCV003312221]benign121398191713981917Humanname
404987716CV3083920single nucleotide variantNM_000834.5(GRIN2B):c.2011-20A>GIntellectual disability, autosomal dominant 6 [RCV003782112]likely benign121357198413571984Human1name
405021470CV3088095single nucleotide variantNM_000834.5(GRIN2B):c.1125+12C>TIntellectual disability, autosomal dominant 6 [RCV003795655]likely benign121367573313675733Human1name
402522957CV3088269single nucleotide variantNM_000834.5(GRIN2B):c.2011-10C>TIntellectual disability, autosomal dominant 6 [RCV003790605]likely benign121357197413571974Human1name
402508775CV3088841single nucleotide variantNM_000834.5(GRIN2B):c.1329-15T>AIntellectual disability, autosomal dominant 6 [RCV003780045]likely benign121361567913615679Human1name
402493044CV3091143single nucleotide variantNM_000834.5(GRIN2B):c.1011-18T>GIntellectual disability, autosomal dominant 6 [RCV003787648]likely benign121367587713675877Human1name
402493220CV3092147single nucleotide variantNM_000834.5(GRIN2B):c.2599-19C>TIntellectual disability, autosomal dominant 6 [RCV003787766]|not specified [RCV003988147]likely benign121356465813564658Human1name
402482835CV3093366single nucleotide variantNM_000834.5(GRIN2B):c.1780+20C>GIntellectual disability, autosomal dominant 6 [RCV003786720]likely benign121361170513611705Human1name
405016172CV3093983single nucleotide variantNM_000834.5(GRIN2B):c.1781-14T>GIntellectual disability, autosomal dominant 6 [RCV003784833]likely benign121360884613608846Human1name
405060502CV3102790single nucleotide variantNM_000834.5(GRIN2B):c.1011-15A>GIntellectual disability, autosomal dominant 6 [RCV003798780]likely benign121367587413675874Human1name
405171637CV3104581single nucleotide variantNM_000834.5(GRIN2B):c.2359+17G>CIntellectual disability, autosomal dominant 6 [RCV003803079]likely benign121356981313569813Human1name
405089353CV3104977single nucleotide variantNM_000834.5(GRIN2B):c.2360-16T>GIntellectual disability, autosomal dominant 6 [RCV003800860]likely benign121356727913567279Human1name
405012108CV3106436single nucleotide variantNM_000834.5(GRIN2B):c.1011-20C>TIntellectual disability, autosomal dominant 6 [RCV003794773]likely benign121367587913675879Human1name
405162822CV3109998single nucleotide variantNM_000834.5(GRIN2B):c.1655-14T>CIntellectual disability, autosomal dominant 6 [RCV003802357]likely benign121361186413611864Human1name
11610456CV316408deletionNM_000834.5(GRIN2B):c.*25_*28delIntellectual Disability, Dominant [RCV000381663]uncertain significance121356275513562758Human1name
12846438CV374867single nucleotide variantNM_000834.5(GRIN2B):c.1501-19C>TIntellectual disability, autosomal dominant 6 [RCV002061403]|not specified [RCV000441654]likely benign121361528613615286Human1name
597859029CV3864870single nucleotide variantNM_000834.5(GRIN2B):c.2171+18G>TIntellectual disability, autosomal dominant 6 [RCV005213927]likely benign121357178613571786Human1name
597882252CV3865860single nucleotide variantNM_000834.5(GRIN2B):c.2599-15C>GIntellectual disability, autosomal dominant 6 [RCV005217525]likely benign121356465413564654Human1name
597901784CV3876693single nucleotide variantNM_000834.5(GRIN2B):c.1654+12G>CIntellectual disability, autosomal dominant 6 [RCV005220391]likely benign121361510213615102Human1name
597858395CV3877938single nucleotide variantNM_000834.5(GRIN2B):c.1010+20C>AIntellectual disability, autosomal dominant 6 [RCV005229248]likely benign121375329713753297Human1name
597844624CV3878803single nucleotide variantNM_000834.5(GRIN2B):c.1655-11C>GIntellectual disability, autosomal dominant 6 [RCV005227133]likely benign121361186113611861Human1name
13527310CV503724single nucleotide variantNM_000834.5(GRIN2B):c.1125+19A>CIntellectual disability, autosomal dominant 6 [RCV002532761]|not provided [RCV001697956]likely benign121367572613675726Human1name
13537926CV504004single nucleotide variantNM_000834.5(GRIN2B):c.2360-15C>AIntellectual disability, autosomal dominant 6 [RCV003767534]|not specified [RCV000611087]likely benign121356727813567278Human1name
13541283CV504011deletionNM_000834.5(GRIN2B):c.2172-10delGRIN2B-related disorder [RCV004533248]|Intellectual disability, autosomal dominant 6 [RCV000655335]|not specified [RCV000615946]benign|likely benign121357002713570027Human1name , alternate_id
13541810CV504247single nucleotide variantNM_000834.5(GRIN2B):c.1654+10G>AIntellectual disability, autosomal dominant 6 [RCV001294976]|not specified [RCV000616673]likely benign|uncertain significance121361510413615104Human1name
13538027CV504715single nucleotide variantNM_000834.5(GRIN2B):c.2359+16G>AIntellectual disability, autosomal dominant 6 [RCV002066614]|not specified [RCV000611238]likely benign121356981413569814Human1name
14744398CV665585single nucleotide variantNM_000834.5(GRIN2B):c.1780+19G>AIntellectual disability, autosomal dominant 6 [RCV002068633]|not provided [RCV000842736]likely benign121361170613611706Human1name
14711416CV666229single nucleotide variantNM_000834.5(GRIN2B):c.2359+16G>CIntellectual disability, autosomal dominant 6 [RCV002538268]|not provided [RCV000828036]likely benign121356981413569814Human1name
14731196CV666230single nucleotide variantNM_000834.5(GRIN2B):c.1500+47C>Tnot provided [RCV000836011]likely benign121361544613615446Humanname
14727807CV666378single nucleotide variantNM_000834.5(GRIN2B):c.1501-97C>Tnot provided [RCV000834490]|not specified [RCV004597887]benign121361536413615364Humanname
14723374CV666623single nucleotide variantNM_000834.5(GRIN2B):c.2359+47C>Anot provided [RCV000832505]benign121356978313569783Humanname
14721281CV666627single nucleotide variantNM_000834.5(GRIN2B):c.411+293C>Tnot provided [RCV000831607]likely benign121386550513865505Humanname
15141020CV775995single nucleotide variantNM_000834.5(GRIN2B):c.1126-10C>TIntellectual disability, autosomal dominant 6 [RCV001475593]likely benign121361666713616667Human1name
150340291CV1168262single nucleotide variantNM_000834.5(GRIN2B):c.1126-240T>Cnot provided [RCV001535204]benign121361689713616897Humanname
150421051CV1180964single nucleotide variantNM_000834.5(GRIN2B):c.1010+308C>Tnot provided [RCV001551835]likely benign121375300913753009Humanname
150424181CV1184660single nucleotide variantNM_000834.5(GRIN2B):c.1780+133C>Tnot provided [RCV001556326]likely benign121361159213611592Humanname
150425143CV1184661single nucleotide variantNM_000834.5(GRIN2B):c.1011-271C>Tnot provided [RCV001557615]likely benign121367613013676130Humanname
150433760CV1204178single nucleotide variantNM_000834.5(GRIN2B):c.2360-153T>Cnot provided [RCV001581927]likely benign121356741613567416Humanname
150431245CV1235383single nucleotide variantNM_000834.5(GRIN2B):c.2359+136G>Anot provided [RCV001641753]benign121356969413569694Humanname
150445616CV1248332single nucleotide variantNM_000834.5(GRIN2B):c.2598+263A>Gnot provided [RCV001667039]benign121356676213566762Humanname
150477893CV1252085duplicationNM_000834.5(GRIN2B):c.2599-231dupnot provided [RCV001672285]benign121356486213564863Humanname
150506359CV1257319single nucleotide variantNM_000834.5(GRIN2B):c.2359+102G>Anot provided [RCV001678158]benign121356972813569728Humanname
150448705CV1260727single nucleotide variantNM_000834.5(GRIN2B):c.1780+193A>Gnot provided [RCV001680395]benign121361153213611532Humanname
150450024CV1260903single nucleotide variantNM_000834.5(GRIN2B):c.1655-231T>Anot provided [RCV001680572]benign121361208113612081Humanname
150478652CV1273329single nucleotide variantNM_000834.5(GRIN2B):c.2598+100T>Cnot provided [RCV001696532]benign121356692513566925Humanname
150496226CV1283208single nucleotide variantNM_000834.5(GRIN2B):c.1010+196A>Gnot provided [RCV001717573]benign121375312113753121Humanname
150500107CV1283257single nucleotide variantNM_000834.5(GRIN2B):c.1126-134C>Gnot provided [RCV001718325]benign121361679113616791Humanname
150504798CV1286029single nucleotide variantNM_000834.5(GRIN2B):c.2011-200G>Tnot provided [RCV001719452]benign121357216413572164Humanname
8653743CV130318single nucleotide variantNM_000834.3(GRIN2B):c.1781-732C>ALung cancer [RCV000110805]uncertain significance121360956413609564Humanname
8653748CV130323single nucleotide variantNM_000834.3(GRIN2B):c.-19+4996G>TLung cancer [RCV000110810]uncertain significance121397493213974932Humanname
14743008CV665566single nucleotide variantNM_000834.5(GRIN2B):c.2359+224A>Cnot provided [RCV000841770]benign121356960613569606Humanname
14743006CV665567single nucleotide variantNM_000834.5(GRIN2B):c.2359+129A>Gnot provided [RCV000841769]benign121356970113569701Humanname
14711166CV665571single nucleotide variantNM_000834.5(GRIN2B):c.2172-299T>Cnot provided [RCV000827948]benign121357031613570316Humanname
14743013CV665584single nucleotide variantNM_000834.5(GRIN2B):c.2011-197T>Cnot provided [RCV000841774]likely benign121357216113572161Humanname
14729911CV666226single nucleotide variantNM_000834.5(GRIN2B):c.2360-225T>Cnot provided [RCV000835435]benign121356748813567488Humanname
14742735CV666625single nucleotide variantNM_000834.5(GRIN2B):c.2172-176A>Gnot provided [RCV000841592]benign121357019313570193Humanname
127331000CV1122478microsatelliteNM_000834.5(GRIN2B):c.2011-11TC[2]Intellectual disability, autosomal dominant 6 [RCV001471277]likely benign121357196813571971Humanname
8653742CV130317single nucleotide variantNM_000834.3(GRIN2B):c.2011-5031C>TLung cancer [RCV000110804]uncertain significance121357699513576995Humanname
8653745CV130320single nucleotide variantNM_000834.3(GRIN2B):c.-18-28115C>ALung cancer [RCV000110807]uncertain significance121389434113894341Humanname
8653746CV130321single nucleotide variantNM_000834.3(GRIN2B):c.-18-54077C>TLung cancer [RCV000110808]uncertain significance121392030313920303Humanname
8653747CV130322single nucleotide variantNM_000834.3(GRIN2B):c.-19+40511C>ALung cancer [RCV000110809]uncertain significance121393941713939417Humanname
152136353CV1555382microsatelliteNM_000834.5(GRIN2B):c.2011-11TC[3]Intellectual disability, autosomal dominant 6 [RCV002119757]likely benign121357196813571969Humanname
405016980CV3094071microsatelliteNM_000834.5(GRIN2B):c.1500+10CA[4]Intellectual disability, autosomal dominant 6 [RCV003784921]likely benign121361547913615480Humanname
11647492CV331227deletionNM_000834.5(GRIN2B):c.*110_*113delIntellectual Disability, Dominant [RCV000276632]uncertain significance121356267013562673Human1name
150496335CV1283254microsatelliteNM_000834.5(GRIN2B):c.1781-161GA[2]not provided [RCV001717607]benign121360898813608989Humanname
155266087CV1704952single nucleotide variantNM_000834.5(GRIN2B):c.1010+13168T>CIntellectual disability, autosomal dominant 6 [RCV002285250]uncertain significance121374014913740149Human1name
127327720CV1122488single nucleotide variantNM_000834.5(GRIN2B):c.9C>T (p.Pro3=)Inborn genetic diseases [RCV002384754]|Intellectual disability, autosomal dominant 6 [RCV001469208]|not specified [RCV004782745]likely benign121386620013866200Human2name
405176352CV3101154duplicationNM_000834.5(GRIN2B):c.2352_2359+2dupIntellectual disability, autosomal dominant 6 [RCV003803541]pathogenic121356982713569828Human1name
405289568CV3221973duplicationNM_000834.5(GRIN2B):c.2011-2_2021dupIntellectual disability, autosomal dominant 6 [RCV003983753]pathogenic121357195313571954Human1name
15180095CV769031single nucleotide variantNM_000834.5(GRIN2B):c.6G>A (p.Lys2=)not provided [RCV000929800]likely benign121386620313866203Humanname
21072340CV791218duplicationNM_000834.5(GRIN2B):c.2011-2_2038dupIntellectual disability, autosomal dominant 6 [RCV000988790]likely pathogenic121357193613571937Human1name
8644928CV104335single nucleotide variantNM_000834.5(GRIN2B):c.15G>A (p.Ala5=)Inborn genetic diseases [RCV002311753]|Intellectual disability, autosomal dominant 6 [RCV001517579]|not provided [RCV000084733]|not specified [RCV000117190]benign|likely benign|conflicting interpretations of pathogenicity|not provided121386619413866194Human2name
127307178CV1143344single nucleotide variantNM_000834.5(GRIN2B):c.15G>T (p.Ala5=)Intellectual disability, autosomal dominant 6 [RCV001480255]likely benign121386619413866194Human1name
15135433CV753264single nucleotide variantNM_000834.5(GRIN2B):c.21C>T (p.Cys7=)Intellectual disability, autosomal dominant 6 [RCV000920850]likely benign121386618813866188Human1name
40887345CV973834deletionNM_000834.5(GRIN2B):c.2011-32_2014delInborn genetic diseases [RCV001266883]pathogenic121357196113571996Human1name
126914894CV1047825single nucleotide variantNM_000834.5(GRIN2B):c.5A>C (p.Lys2Thr)Intellectual disability, autosomal dominant 6 [RCV001359697]uncertain significance121386620413866204Human1name
151717630CV1495527deletionNM_000834.5(GRIN2B):c.2360-9_2360-4delIntellectual disability, autosomal dominant 6 [RCV002026836]likely benign|uncertain significance121356726713567272Human1name
152098194CV1542382single nucleotide variantNM_000834.5(GRIN2B):c.40T>C (p.Leu14=)Intellectual disability, autosomal dominant 6 [RCV002195197]likely benign121386616913866169Human1name
152108653CV1548093single nucleotide variantNM_000834.5(GRIN2B):c.96C>T (p.Pro32=)Intellectual disability, autosomal dominant 6 [RCV002174047]likely benign121386611313866113Human1name
152033022CV1657683single nucleotide variantNM_000834.5(GRIN2B):c.93C>T (p.Ser31=)Intellectual disability, autosomal dominant 6 [RCV002187008]likely benign121386611613866116Human1name
156446565CV1947910single nucleotide variantNM_000834.5(GRIN2B):c.72C>T (p.Ser24=)Intellectual disability, autosomal dominant 6 [RCV003118074]likely benign121386613713866137Human1name
155941353CV2119873single nucleotide variantNM_000834.5(GRIN2B):c.90G>A (p.Lys30=)Intellectual disability, autosomal dominant 6 [RCV002971305]likely benign121386611913866119Human1name
11523965CV244815single nucleotide variantNM_000834.5(GRIN2B):c.99C>A (p.Pro33=)Inborn genetic diseases [RCV002379037]|Intellectual disability, autosomal dominant 6 [RCV000919117]|not provided [RCV001722271]likely benign121386611013866110Human2name
405062230CV3108430single nucleotide variantNM_000834.5(GRIN2B):c.66A>G (p.Ser22=)Intellectual disability, autosomal dominant 6 [RCV003809008]likely benign121386614313866143Human1name
11599397CV323865single nucleotide variantNM_000834.5(GRIN2B):c.33G>A (p.Lys11=)Intellectual disability, autosomal dominant 6 [RCV001466832]likely benign|uncertain significance121386617613866176Human1name
12842211CV372153single nucleotide variantNM_000834.5(GRIN2B):c.96C>A (p.Pro32=)Inborn genetic diseases [RCV002374675]|Intellectual disability, autosomal dominant 6 [RCV001432168]|not specified [RCV000433998]likely benign121386611313866113Human2name
597880720CV3868379single nucleotide variantNM_000834.5(GRIN2B):c.69C>G (p.Gly23=)Intellectual disability, autosomal dominant 6 [RCV005217279]likely benign121386614013866140Human1name
13490663CV462059single nucleotide variantNM_000834.5(GRIN2B):c.45G>A (p.Val15=)Intellectual disability, autosomal dominant 6 [RCV001079032]|not provided [RCV000533669]benign|likely benign121386616413866164Human1name
13539296CV504020single nucleotide variantNM_000834.5(GRIN2B):c.60C>T (p.Ala20=)Inborn genetic diseases [RCV002358722]|Intellectual disability, autosomal dominant 6 [RCV001437127]|not specified [RCV000613090]benign|likely benign121386614913866149Human2name
13537138CV504727single nucleotide variantNM_000834.5(GRIN2B):c.51C>T (p.Ala17=)Inborn genetic diseases [RCV002341547]|Intellectual disability, autosomal dominant 6 [RCV001416078]|not provided [RCV001200578]|not specified [RCV000609982]likely benign121386615813866158Human2name
15201506CV769030single nucleotide variantNM_000834.5(GRIN2B):c.66A>T (p.Ser22=)Intellectual disability, autosomal dominant 6 [RCV001411356]likely benign121386614313866143Human1name
38460655CV919421single nucleotide variantNM_000834.5(GRIN2B):c.7C>T (p.Pro3Ser)Intellectual disability, autosomal dominant 6 [RCV001196777]uncertain significance121386620213866202Human1name
8644929CV104336single nucleotide variantNM_000834.5(GRIN2B):c.14C>T (p.Ala5Val)Intellectual disability, autosomal dominant 6 [RCV001307330]|not provided [RCV000084734]benign|uncertain significance|not provided121386619513866195Human1name
127234254CV1079282single nucleotide variantNM_000834.5(GRIN2B):c.228C>A (p.Thr76=)Intellectual disability, autosomal dominant 6 [RCV001414174]likely benign121386598113865981Human1name
127254130CV1101037single nucleotide variantNM_000834.5(GRIN2B):c.282C>A (p.Ile94=)Inborn genetic diseases [RCV002439023]|Intellectual disability, autosomal dominant 6 [RCV001437149]|not provided [RCV003394051]likely benign121386592713865927Human2name
8691258CV141218single nucleotide variantNM_000834.5(GRIN2B):c.228C>T (p.Thr76=)Inborn genetic diseases [RCV002312883]|Intellectual disability, autosomal dominant 6 [RCV000604796]|Intellectual disability, autosomal dominant 6 [RCV001079626]|not provided [RCV000476684]|not specified [RCV000125319]benign|likely benign121386598113865981Human2name
152092508CV1530942single nucleotide variantNM_000834.5(GRIN2B):c.294G>A (p.Val98=)Intellectual disability, autosomal dominant 6 [RCV002114267]likely benign121386591513865915Human1name
152117027CV1541074single nucleotide variantNM_000834.5(GRIN2B):c.246C>T (p.Ile82=)Intellectual disability, autosomal dominant 6 [RCV002197528]likely benign121386596313865963Human1name
152138640CV1563548single nucleotide variantNM_000834.5(GRIN2B):c.123C>T (p.Leu41=)Intellectual disability, autosomal dominant 6 [RCV002200286]likely benign121386608613866086Human1name
152108919CV1643741duplicationNM_000834.5(GRIN2B):c.1125+6_1125+10dupIntellectual disability, autosomal dominant 6 [RCV002096572]likely benign121367573413675735Human1name
152090537CV1661882single nucleotide variantNM_000834.5(GRIN2B):c.270T>C (p.Ser90=)Intellectual disability, autosomal dominant 6 [RCV002131988]benign121386593913865939Human1name
155731097CV1825892deletionNM_000834.5(GRIN2B):c.99del (p.Ser34fs)Inborn genetic diseases [RCV002383109]pathogenic121386611013866110Human1name
156298239CV2005613single nucleotide variantNM_000834.5(GRIN2B):c.264C>T (p.Leu88=)Intellectual disability, autosomal dominant 6 [RCV002671041]likely benign121386594513865945Human1name
10396102CV202676single nucleotide variantNM_000834.5(GRIN2B):c.291G>A (p.Val97=)GRIN2B-related disorder [RCV004734830]|Inborn genetic diseases [RCV002311271]|Intellectual disability, autosomal dominant 6 [RCV000655331]|not specified [RCV000187687]benign|likely benign|conflicting interpretations of pathogenicity121386591813865918Human2name , alternate_id
156007990CV2042541single nucleotide variantNM_000834.5(GRIN2B):c.25T>C (p.Ser9Pro)Intellectual disability, autosomal dominant 6 [RCV002794942]uncertain significance121386618413866184Human1name
156377131CV2050549single nucleotide variantNM_000834.5(GRIN2B):c.199C>A (p.Arg67=)Intellectual disability, autosomal dominant 6 [RCV002814786]likely benign121386601013866010Human1name
156280474CV2074739single nucleotide variantNM_000834.5(GRIN2B):c.291G>T (p.Val97=)Intellectual disability, autosomal dominant 6 [RCV002856364]likely benign121386591813865918Human1name
155967921CV2082887single nucleotide variantNM_000834.5(GRIN2B):c.246C>A (p.Ile82=)Intellectual disability, autosomal dominant 6 [RCV002881345]likely benign121386596313865963Human1name
156081520CV2083704single nucleotide variantNM_000834.5(GRIN2B):c.216C>A (p.Ala72=)Intellectual disability, autosomal dominant 6 [RCV002847401]likely benign121386599313865993Human1name
402524435CV3086757single nucleotide variantNM_000834.5(GRIN2B):c.23G>A (p.Cys8Tyr)Intellectual disability, autosomal dominant 6 [RCV003781375]uncertain significance121386618613866186Human1name
404984785CV3087305single nucleotide variantNM_000834.5(GRIN2B):c.273C>T (p.Asp91=)Intellectual disability, autosomal dominant 6 [RCV003781768]likely benign121386593613865936Human1name
405022050CV3101381single nucleotide variantNM_000834.5(GRIN2B):c.180C>T (p.His60=)Intellectual disability, autosomal dominant 6 [RCV003805960]likely benign121386602913866029Human1name
405066151CV3103382single nucleotide variantNM_000834.5(GRIN2B):c.17A>C (p.Glu6Ala)Intellectual disability, autosomal dominant 6 [RCV003799212]uncertain significance121386619213866192Human1name
405292620CV3192948single nucleotide variantNM_000834.5(GRIN2B):c.216C>T (p.Ala72=)GRIN2B-related disorder [RCV004540969]|not specified [RCV004526286]likely benign121386599313865993Human1name , alternate_id
11610184CV323860single nucleotide variantNM_000834.5(GRIN2B):c.189C>T (p.Ser63=)Intellectual disability, autosomal dominant 6 [RCV001413977]|not provided [RCV000585247]|not specified [RCV000609140]likely benign|conflicting interpretations of pathogenicity|uncertain significance121386602013866020Human1name
12846579CV374880single nucleotide variantNM_000834.5(GRIN2B):c.153G>A (p.Lys51=)Intellectual disability, autosomal dominant 6 [RCV003766308]|not provided [RCV001720264]likely benign121386605613866056Human1name
597861511CV3865355single nucleotide variantNM_000834.5(GRIN2B):c.135C>T (p.Ser45=)Intellectual disability, autosomal dominant 6 [RCV005214249]likely benign121386607413866074Human1name
598227171CV3894471single nucleotide variantNM_000834.5(GRIN2B):c.288G>A (p.Gly96=)not provided [RCV005257714]likely benign121386592113865921Humanname
12888151CV398880single nucleotide variantNM_000834.5(GRIN2B):c.144G>A (p.Val48=)Intellectual disability, autosomal dominant 6 [RCV001440317]likely benign121386606513866065Human1name
12882838CV399346single nucleotide variantNM_000834.5(GRIN2B):c.23G>C (p.Cys8Ser)Intellectual disability, autosomal dominant 6 [RCV000460411]uncertain significance121386618613866186Human1name
12913208CV421913duplicationNM_000834.5(GRIN2B):c.99dup (p.Ser34fs)Intellectual disability [RCV001260648]|Intellectual disability, autosomal dominant 6 [RCV000032861]|not provided [RCV000493526]pathogenic|likely pathogenic121386610913866110Human3name
13494308CV462057single nucleotide variantNM_000834.5(GRIN2B):c.174T>C (p.Asp58=)Intellectual disability, autosomal dominant 6 [RCV000536319]likely benign121386603513866035Human1name
13626760CV527244single nucleotide variantNM_000834.5(GRIN2B):c.138C>T (p.Asp46=)Intellectual disability, autosomal dominant 6 [RCV000655327]|not provided [RCV003392503]likely benign121386607113866071Human1name
15105408CV784348single nucleotide variantNM_000834.5(GRIN2B):c.162C>T (p.His54=)Intellectual disability, autosomal dominant 6 [RCV001422555]likely benign121386604713866047Human1name
26897862CV822066single nucleotide variantNM_000834.5(GRIN2B):c.274C>A (p.Arg92=)Intellectual disability, autosomal dominant 6 [RCV001034340]benign121386593513865935Human1name
26897730CV822067single nucleotide variantNM_000834.5(GRIN2B):c.189C>A (p.Ser63=)Intellectual disability, autosomal dominant 6 [RCV001034293]benign121386602013866020Human1name
38457342CV920314deletionNM_000834.5(GRIN2B):c.2011-18_2011-3delIntellectual disability, autosomal dominant 6 [RCV001198637]uncertain significance121357196713571982Human1name
126734384CV1000780single nucleotide variantNM_000834.5(GRIN2B):c.465C>T (p.Ser155=)Intellectual disability, autosomal dominant 6 [RCV001496161]|not provided [RCV001311292]likely benign121375386213753862Human1name
126734388CV1000781single nucleotide variantNM_000834.5(GRIN2B):c.351A>G (p.Ala117=)not provided [RCV001311293]likely benign121386585813865858Humanname
8644927CV104334single nucleotide variantNM_000834.5(GRIN2B):c.465C>A (p.Ser155=)Inborn genetic diseases [RCV002326805]|Intellectual disability, autosomal dominant 6 [RCV001080498]|not provided [RCV000084732]|not specified [RCV000186632]benign|likely benign|not provided121375386213753862Human2name
126917802CV1047824single nucleotide variantNM_000834.5(GRIN2B):c.94C>T (p.Pro32Ser)Intellectual disability, autosomal dominant 6 [RCV001372285]uncertain significance121386611513866115Human1name
127246645CV1079279single nucleotide variantNM_000834.5(GRIN2B):c.951C>T (p.Pro317=)Intellectual disability, autosomal dominant 6 [RCV001416776]likely benign121375337613753376Human1name
127259140CV1079280single nucleotide variantNM_000834.5(GRIN2B):c.840A>G (p.Val280=)Intellectual disability, autosomal dominant 6 [RCV001401848]likely benign121375348713753487Human1name
127283598CV1079281single nucleotide variantNM_000834.5(GRIN2B):c.609C>T (p.Leu203=)Inborn genetic diseases [RCV004980450]|Intellectual disability, autosomal dominant 6 [RCV001411915]likely benign121375371813753718Human2name
127262006CV1101034single nucleotide variantNM_000834.5(GRIN2B):c.822C>T (p.Pro274=)Intellectual disability, autosomal dominant 6 [RCV001438848]likely benign121375350513753505Human1name
127259650CV1101035single nucleotide variantNM_000834.5(GRIN2B):c.423C>T (p.Ser141=)Intellectual disability, autosomal dominant 6 [RCV001438394]likely benign121375390413753904Human1name
127268267CV1101036single nucleotide variantNM_000834.5(GRIN2B):c.360C>T (p.Leu120=)Inborn genetic diseases [RCV002456732]|Intellectual disability, autosomal dominant 6 [RCV001440728]|not provided [RCV001692382]benign|likely benign121386584913865849Human2name
127316772CV1122483single nucleotide variantNM_000834.5(GRIN2B):c.981G>A (p.Lys327=)Intellectual disability, autosomal dominant 6 [RCV001465628]likely benign121375334613753346Human1name
127316872CV1122484single nucleotide variantNM_000834.5(GRIN2B):c.942C>T (p.Ile314=)Intellectual disability, autosomal dominant 6 [RCV001465656]likely benign121375338513753385Human1name
127331265CV1122486single nucleotide variantNM_000834.5(GRIN2B):c.807G>A (p.Val269=)GRIN2B-related disorder [RCV004734205]|Intellectual disability, autosomal dominant 6 [RCV001471416]likely benign121375352013753520Human1name , alternate_id
127291957CV1143342single nucleotide variantNM_000834.5(GRIN2B):c.963T>C (p.Cys321=)Intellectual disability, autosomal dominant 6 [RCV001496402]likely benign121375336413753364Human1name
127335722CV1143343single nucleotide variantNM_000834.5(GRIN2B):c.717C>T (p.Tyr239=)Intellectual disability, autosomal dominant 6 [RCV001491687]likely benign121375361013753610Human1name
150333141CV1169511single nucleotide variantNM_000834.5(GRIN2B):c.370C>T (p.Leu124=)Intellectual disability, autosomal dominant 6 [RCV002568234]|not provided [RCV001537181]likely benign121386583913865839Human1name
150486268CV1203271single nucleotide variantNM_000834.5(GRIN2B):c.366C>A (p.Pro122=)Intellectual disability, autosomal dominant 6 [RCV002070419]|not provided [RCV001591449]likely benign121386584313865843Human1name
150435838CV1246517single nucleotide variantNM_000834.5(GRIN2B):c.813G>A (p.Ala271=)Intellectual disability, autosomal dominant 6 [RCV002073111]|not specified [RCV001665516]likely benign121375351413753514Human1name
8659696CV134651single nucleotide variantNM_000834.5(GRIN2B):c.366C>G (p.Pro122=)Developmental and epileptic encephalopathy, 27 [RCV001701509]|Inborn genetic diseases [RCV002312132]|Intellectual disability, autosomal dominant 6 [RCV001519995]|Intellectual disability, autosomal dominant 6 [RCV001701755]|not provided [RCV004706530]|not specified [RCV000117198]benign|likely benign|conflicting interpretations of pathogenicity121386584313865843Human3name
8659697CV134652single nucleotide variantNM_000834.5(GRIN2B):c.381C>T (p.His127=)Intellectual disability, autosomal dominant 6 [RCV001083068]|not provided [RCV000117199]likely benign|conflicting interpretations of pathogenicity|uncertain significance121386582813865828Human1name
8659698CV134653single nucleotide variantNM_000834.5(GRIN2B):c.504C>A (p.Ile168=)Inborn genetic diseases [RCV002312133]|Intellectual disability, autosomal dominant 6 [RCV000462623]|not provided [RCV004706531]|not specified [RCV000117202]benign|likely benign|conflicting interpretations of pathogenicity121375382313753823Human2name
8659699CV134654single nucleotide variantNM_000834.5(GRIN2B):c.870C>T (p.Pro290=)Inborn genetic diseases [RCV002312134]|Intellectual disability, autosomal dominant 6 [RCV000477521]|not provided [RCV004707961]|not specified [RCV000117203]benign|likely benign|conflicting interpretations of pathogenicity121375345713753457Human2name
151780209CV1409620single nucleotide variantNM_000834.5(GRIN2B):c.76G>A (p.Ala26Thr)Intellectual disability, autosomal dominant 6 [RCV001882144]benign|uncertain significance121386613313866133Human1name
151822232CV1462172single nucleotide variantNM_000834.5(GRIN2B):c.75A>C (p.Arg25Ser)Intellectual disability, autosomal dominant 6 [RCV001966555]uncertain significance121386613413866134Human1name
152159234CV1522592single nucleotide variantNM_000834.5(GRIN2B):c.741A>G (p.Val247=)Intellectual disability, autosomal dominant 6 [RCV002140629]likely benign121375358613753586Human1name
152169468CV1529224duplicationNM_000834.5(GRIN2B):c.2359+12_2359+15dupIntellectual disability, autosomal dominant 6 [RCV002161456]likely benign121356981413569815Human1name
152144062CV1538519single nucleotide variantNM_000834.5(GRIN2B):c.846T>C (p.Tyr282=)Intellectual disability, autosomal dominant 6 [RCV002219766]|not provided [RCV003395379]likely benign121375348113753481Human1name
152089438CV1541586single nucleotide variantNM_000834.5(GRIN2B):c.429C>T (p.Phe143=)Intellectual disability, autosomal dominant 6 [RCV002171633]likely benign121375389813753898Human1name
152163945CV1560320single nucleotide variantNM_000834.5(GRIN2B):c.384G>C (p.Gly128=)Intellectual disability, autosomal dominant 6 [RCV002160148]likely benign121386582513865825Human1name
152127832CV1572148deletionNM_000834.5(GRIN2B):c.2011-20_2011-11delIntellectual disability, autosomal dominant 6 [RCV002217652]likely benign121357197513571984Human1name
152046965CV1580136single nucleotide variantNM_000834.5(GRIN2B):c.612A>G (p.Leu204=)Intellectual disability, autosomal dominant 6 [RCV002166386]likely benign121375371513753715Human1name
152149056CV1616697single nucleotide variantNM_000834.5(GRIN2B):c.957C>T (p.Ser319=)Intellectual disability, autosomal dominant 6 [RCV002201683]likely benign121375337013753370Human1name
152139716CV1638292single nucleotide variantNM_000834.5(GRIN2B):c.672A>G (p.Gln224=)Intellectual disability, autosomal dominant 6 [RCV002177895]likely benign121375365513753655Human1name
152121071CV1641239single nucleotide variantNM_000834.5(GRIN2B):c.610C>T (p.Leu204=)Intellectual disability, autosomal dominant 6 [RCV002198059]likely benign121375371713753717Human1name
153349476CV1693399single nucleotide variantNM_000834.5(GRIN2B):c.29C>A (p.Pro10His)not provided [RCV002275881]uncertain significance121386618013866180Humanname
153349562CV1693581single nucleotide variantNM_000834.5(GRIN2B):c.447A>T (p.Ser149=)not provided [RCV002275978]likely benign121375388013753880Humanname
156044539CV1914761single nucleotide variantNM_000834.5(GRIN2B):c.537C>T (p.Tyr179=)Intellectual disability, autosomal dominant 6 [RCV002620388]likely benign121375379013753790Human1name
156404963CV1919123single nucleotide variantNM_000834.5(GRIN2B):c.681C>T (p.Ile227=)Intellectual disability, autosomal dominant 6 [RCV002585541]likely benign121375364613753646Human1name
156130651CV1977020single nucleotide variantNM_000834.5(GRIN2B):c.627G>A (p.Leu209=)Intellectual disability, autosomal dominant 6 [RCV002593482]benign121375370013753700Human1name
156099325CV1981171single nucleotide variantNM_000834.5(GRIN2B):c.501C>T (p.Tyr167=)Intellectual disability, autosomal dominant 6 [RCV002622152]likely benign121375382613753826Human1name
10396108CV202680single nucleotide variantNM_000834.5(GRIN2B):c.61G>A (p.Val21Met)GRIN2B-related disorder [RCV004537576]|Inborn genetic diseases [RCV002354527]|Intellectual disability, autosomal dominant 6 [RCV000558817]|not provided [RCV001753586]benign|likely benign|uncertain significance121386614813866148Human2name , alternate_id
10396107CV202681single nucleotide variantNM_000834.5(GRIN2B):c.52G>A (p.Val18Ile)Intellectual disability, autosomal dominant 6 [RCV001059549]|not specified [RCV000187692]benign|likely benign|uncertain significance121386615713866157Human1name
156021244CV2055520single nucleotide variantNM_000834.5(GRIN2B):c.94C>A (p.Pro32Thr)Intellectual disability, autosomal dominant 6 [RCV002820625]|not provided [RCV003134507]benign|uncertain significance121386611513866115Human1name
156269767CV2097386single nucleotide variantNM_000834.5(GRIN2B):c.603G>A (p.Glu201=)Intellectual disability, autosomal dominant 6 [RCV002877563]likely benign121375372413753724Human1name
156275080CV2133019inversionNM_000834.5(GRIN2B):c.1126-13_1126-12invIntellectual disability, autosomal dominant 6 [RCV003009400]uncertain significance121361666913616670Humanname
156219410CV2172077single nucleotide variantNM_000834.5(GRIN2B):c.615G>A (p.Leu205=)Intellectual disability, autosomal dominant 6 [RCV003042658]likely benign121375371213753712Human1name
11091833CV231843single nucleotide variantNM_000834.5(GRIN2B):c.876A>G (p.Arg292=)Intellectual disability, autosomal dominant 6 [RCV003765448]|not provided [RCV000217794]likely benign|uncertain significance121375345113753451Human1name
243052677CV2412809single nucleotide variantNM_000834.5(GRIN2B):c.324C>T (p.Ile108=)Intellectual disability, autosomal dominant 6 [RCV003778706]|not provided [RCV003131078]likely benign|uncertain significance121386588513865885Human1name
11523928CV244799microsatelliteNM_000834.5(GRIN2B):c.2172-20_2172-17delIntellectual disability, autosomal dominant 6 [RCV003765477]|not specified [RCV000236683]likely benign121357003413570037Humanname
11523580CV244813single nucleotide variantNM_000834.5(GRIN2B):c.327C>G (p.Ala109=)not provided [RCV004567790]|not specified [RCV000236156]likely benign121386588213865882Humanname
401905990CV2806762single nucleotide variantNM_000834.5(GRIN2B):c.831C>T (p.Leu277=)not provided [RCV003396255]likely benign121375349613753496Humanname
401905991CV2806763single nucleotide variantNM_000834.5(GRIN2B):c.618C>T (p.Asp206=)not provided [RCV003396256]likely benign121375370913753709Humanname
405006334CV3082825single nucleotide variantNM_000834.5(GRIN2B):c.711C>T (p.Ala237=)Intellectual disability, autosomal dominant 6 [RCV003783926]likely benign121375361613753616Human1name
404998596CV3084821single nucleotide variantNM_000834.5(GRIN2B):c.675C>T (p.Ser225=)Intellectual disability, autosomal dominant 6 [RCV003793494]likely benign121375365213753652Human1name
402506539CV3090380duplicationNM_000834.5(GRIN2B):c.2011-20_2011-17dupIntellectual disability, autosomal dominant 6 [RCV003789149]likely benign121357198013571981Human1name
402495644CV3092435deletionNM_000834.5(GRIN2B):c.2599-17_2599-14delIntellectual disability, autosomal dominant 6 [RCV003788055]likely benign121356465313564656Human1name
405017269CV3094097single nucleotide variantNM_000834.5(GRIN2B):c.861T>C (p.Tyr287=)Intellectual disability, autosomal dominant 6 [RCV003784947]likely benign121375346613753466Human1name
405027989CV3094842single nucleotide variantNM_000834.5(GRIN2B):c.495C>T (p.Asp165=)Intellectual disability, autosomal dominant 6 [RCV003796204]likely benign121375383213753832Human1name
405030623CV3095210single nucleotide variantNM_000834.5(GRIN2B):c.348A>C (p.Ser116=)Intellectual disability, autosomal dominant 6 [RCV003796416]likely benign121386586113865861Human1name
405005734CV3098477single nucleotide variantNM_000834.5(GRIN2B):c.573G>A (p.Glu191=)Intellectual disability, autosomal dominant 6 [RCV003804408]likely benign121375375413753754Human1name
405000647CV3099311single nucleotide variantNM_000834.5(GRIN2B):c.324C>A (p.Ile108=)Intellectual disability, autosomal dominant 6 [RCV003793732]likely benign121386588513865885Human1name
405069137CV3103577single nucleotide variantNM_000834.5(GRIN2B):c.95C>A (p.Pro32His)Intellectual disability, autosomal dominant 6 [RCV003799407]uncertain significance121386611413866114Human1name
405094797CV3105569single nucleotide variantNM_000834.5(GRIN2B):c.36C>G (p.Phe12Leu)Intellectual disability, autosomal dominant 6 [RCV003801286]uncertain significance121386617313866173Human1name
405035924CV3106189single nucleotide variantNM_000834.5(GRIN2B):c.414T>C (p.Asp138=)Intellectual disability, autosomal dominant 6 [RCV003796880]likely benign121375391313753913Human1name
405010172CV3109133single nucleotide variantNM_000834.5(GRIN2B):c.77C>T (p.Ala26Val)Intellectual disability, autosomal dominant 6 [RCV003804801]uncertain significance121386613213866132Human1name
405105174CV3113176single nucleotide variantNM_000834.5(GRIN2B):c.588C>G (p.Gly196=)Intellectual disability, autosomal dominant 6 [RCV003812467]likely benign121375373913753739Human1name
11603837CV316416single nucleotide variantNM_000834.5(GRIN2B):c.732C>G (p.Ala244=)Intellectual disability, autosomal dominant 6 [RCV001437594]|not provided [RCV000465641]likely benign|uncertain significance121375359513753595Human1name
12791852CV362339single nucleotide variantNM_000834.5(GRIN2B):c.43G>A (p.Val15Met)Epileptic encephalopathy [RCV000416940]uncertain significance121386616613866166Human2name
12839414CV372154single nucleotide variantNM_000834.5(GRIN2B):c.80G>T (p.Arg27Leu)Inborn genetic diseases [RCV003352865]|Intellectual disability, autosomal dominant 6 [RCV001366305]|not specified [RCV000428768]benign|likely benign|uncertain significance121386612913866129Human2name
12833533CV372872single nucleotide variantNM_000834.5(GRIN2B):c.513C>T (p.Ile171=)Inborn genetic diseases [RCV002313052]|Intellectual disability, autosomal dominant 6 [RCV000465148]|not provided [RCV001703592]benign|likely benign121375381413753814Human2name
12833125CV373118single nucleotide variantNM_000834.5(GRIN2B):c.540G>A (p.Gln180=)Intellectual disability, autosomal dominant 6 [RCV001861605]|not specified [RCV000417923]likely benign|uncertain significance121375378713753787Human1name
597663074CV3732397single nucleotide variantNM_000834.5(GRIN2B):c.92G>T (p.Ser31Ile)not provided [RCV005003866]uncertain significance121386611713866117Humanname
12833914CV374878single nucleotide variantNM_000834.5(GRIN2B):c.630C>T (p.Asp210=)Intellectual disability, autosomal dominant 6 [RCV001430863]|not provided [RCV000866742]likely benign121375369713753697Human1name
12847711CV374879single nucleotide variantNM_000834.5(GRIN2B):c.444A>G (p.Pro148=)Intellectual disability, autosomal dominant 6 [RCV001412281]|not specified [RCV000443978]likely benign121375388313753883Human1name
597891726CV3867940single nucleotide variantNM_000834.5(GRIN2B):c.982A>C (p.Arg328=)Intellectual disability, autosomal dominant 6 [RCV005218968]likely benign121375334513753345Human1name
597848900CV3872891single nucleotide variantNM_000834.5(GRIN2B):c.699C>T (p.Thr233=)Intellectual disability, autosomal dominant 6 [RCV005212528]likely benign121375362813753628Human1name
597848908CV3872892single nucleotide variantNM_000834.5(GRIN2B):c.595C>T (p.Leu199=)Intellectual disability, autosomal dominant 6 [RCV005212529]likely benign121375373213753732Human1name
597897950CV3875971single nucleotide variantNM_000834.5(GRIN2B):c.927T>C (p.Ser309=)Intellectual disability, autosomal dominant 6 [RCV005219861]likely benign121375340013753400Human1name
597929843CV3879263single nucleotide variantNM_000834.5(GRIN2B):c.870C>A (p.Pro290=)Intellectual disability, autosomal dominant 6 [RCV005224760]likely benign121375345713753457Human1name
598122291CV3884315single nucleotide variantNM_000834.5(GRIN2B):c.729G>C (p.Val243=)not specified [RCV005237006]likely benign121375359813753598Humanname
12887665CV398874single nucleotide variantNM_000834.5(GRIN2B):c.765G>A (p.Thr255=)Inborn genetic diseases [RCV002395134]|Intellectual disability, autosomal dominant 6 [RCV000469462]likely benign121375356213753562Human2name
12889393CV399034single nucleotide variantNM_000834.5(GRIN2B):c.336C>T (p.Leu112=)Inborn genetic diseases [RCV002455898]|Intellectual disability, autosomal dominant 6 [RCV000472676]likely benign121386587313865873Human2name
12888978CV399343single nucleotide variantNM_000834.5(GRIN2B):c.681C>A (p.Ile227=)GRIN2B-related disorder [RCV004735554]|Intellectual disability, autosomal dominant 6 [RCV000471946]likely benign121375364613753646Human1name , alternate_id
12899994CV408606single nucleotide variantNM_000834.5(GRIN2B):c.36C>A (p.Phe12Leu)not provided [RCV000481414]uncertain significance121386617313866173Humanname
13536647CV504017single nucleotide variantNM_000834.5(GRIN2B):c.834C>A (p.Ile278=)Intellectual disability, autosomal dominant 6 [RCV001460785]|not provided [RCV001718979]|not specified [RCV001821741]benign|likely benign121375349313753493Human1name
13531581CV504018single nucleotide variantNM_000834.5(GRIN2B):c.519C>G (p.Thr173=)Intellectual disability, autosomal dominant 6 [RCV000655344]|not provided [RCV000994860]|not specified [RCV000601097]likely benign121375380813753808Human1name
13535360CV504245deletionNM_000834.5(GRIN2B):c.2011-20_2011-17delIntellectual disability, autosomal dominant 6 [RCV002063947]|not specified [RCV000602285]likely benign121357198113571984Human1name
13626778CV527242single nucleotide variantNM_000834.5(GRIN2B):c.975C>T (p.His325=)Inborn genetic diseases [RCV002317903]|Intellectual disability, autosomal dominant 6 [RCV000655337]|not provided [RCV001545907]likely benign121375335213753352Human2name
13828803CV579777single nucleotide variantNM_000834.5(GRIN2B):c.80G>A (p.Arg27His)Inborn genetic diseases [RCV002316087]|Intellectual disability, autosomal dominant 6 [RCV001034073]likely benign|uncertain significance121386612913866129Human2name
14729395CV641008single nucleotide variantNM_000834.5(GRIN2B):c.92G>C (p.Ser31Thr)Intellectual disability, autosomal dominant 6 [RCV000800467]benign|uncertain significance121386611713866117Human1name
14707774CV656125single nucleotide variantNM_000834.5(GRIN2B):c.999T>C (p.Asn333=)not provided [RCV000826940]likely benign121375332813753328Humanname
15102495CV687946single nucleotide variantNM_000834.5(GRIN2B):c.625C>T (p.Leu209=)Intellectual disability, autosomal dominant 6 [RCV000870469]likely benign121375370213753702Human1name
15149663CV687947single nucleotide variantNM_000834.5(GRIN2B):c.510T>C (p.Ser170=)Intellectual disability, autosomal dominant 6 [RCV001499149]likely benign121375381713753817Human1name
15182547CV769029single nucleotide variantNM_000834.5(GRIN2B):c.393T>C (p.Ser131=)Intellectual disability, autosomal dominant 6 [RCV001406472]likely benign121386581613865816Human1name
21074228CV796731single nucleotide variantNM_000834.5(GRIN2B):c.28C>A (p.Pro10Thr)not provided [RCV000994863]uncertain significance121386618113866181Humanname
26897759CV822068single nucleotide variantNM_000834.5(GRIN2B):c.38G>T (p.Trp13Leu)Intellectual disability, autosomal dominant 6 [RCV001034304]|not provided [RCV003132145]benign|uncertain significance121386617113866171Human1name
8627234CV82378single nucleotide variantNM_000834.5(GRIN2B):c.771C>T (p.Ile257=)Inborn genetic diseases [RCV002399423]|Intellectual disability, autosomal dominant 6 [RCV000535002]benign|likely benign|not provided121375355613753556Human2name
8634594CV89814single nucleotide variantNM_000834.3(GRIN2B):c.939C>T (p.Phe313=)Malignant melanoma [RCV000069911]not provided121375338813753388Humanname
126749534CV995070single nucleotide variantNM_000834.5(GRIN2B):c.843A>G (p.Ser281=)Intellectual disability, autosomal dominant 6 [RCV001297154]likely benign|uncertain significance121375348413753484Human1name
126749117CV1010297single nucleotide variantNM_000834.5(GRIN2B):c.136G>A (p.Asp46Asn)Intellectual disability, autosomal dominant 6 [RCV001326469]|not provided [RCV003130270]uncertain significance121386607313866073Human1name
8644921CV104328single nucleotide variantNM_000834.5(GRIN2B):c.2712G>A (p.Thr904=)Intellectual disability, autosomal dominant 6 [RCV001089066]|not provided [RCV000084726]likely benign|not provided121356452613564526Human1name
8644922CV104329single nucleotide variantNM_000834.5(GRIN2B):c.2691C>T (p.Asn897=)Inborn genetic diseases [RCV002313840]|Intellectual disability, autosomal dominant 6 [RCV001083408]|not provided [RCV000084727]|not specified [RCV000117195]benign|likely benign|conflicting interpretations of pathogenicity|not provided121356454713564547Human2name
8644923CV104330single nucleotide variantNM_000834.5(GRIN2B):c.2664C>T (p.Thr888=)Inborn genetic diseases [RCV002311751]|Intellectual disability, autosomal dominant 6 [RCV001516888]|not provided [RCV000084728]|not specified [RCV000117194]benign|likely benign|not provided121356457413564574Human2name
8644924CV104331single nucleotide variantNM_000834.5(GRIN2B):c.2313G>A (p.Gly771=)Intellectual disability, autosomal dominant 6 [RCV002055252]|not provided [RCV000084729]likely benign|not provided121356987613569876Human1name
8644925CV104332single nucleotide variantNM_000834.5(GRIN2B):c.1833T>C (p.Gly611=)Intellectual disability, autosomal dominant 6 [RCV005213206]|not provided [RCV000084730]likely benign|not provided121360878013608780Human1name
8644926CV104333single nucleotide variantNM_000834.5(GRIN2B):c.1341C>T (p.Asp447=)GRIN2B-related disorder [RCV004529881]|Inborn genetic diseases [RCV002311752]|Intellectual disability, autosomal dominant 6 [RCV001083729]|not provided [RCV000084731]|not specified [RCV000117189]benign|not provided121361565213615652Human2name , alternate_id
126908418CV1047820single nucleotide variantNM_000834.5(GRIN2B):c.2313G>T (p.Gly771=)Intellectual disability, autosomal dominant 6 [RCV001367838]likely benign|uncertain significance121356987613569876Human1name
127243772CV1079261single nucleotide variantNM_000834.5(GRIN2B):c.2937C>T (p.Asn979=)Intellectual disability, autosomal dominant 6 [RCV001416231]likely benign121356430113564301Human1name
127281131CV1079264single nucleotide variantNM_000834.5(GRIN2B):c.2631C>A (p.Ile877=)Intellectual disability, autosomal dominant 6 [RCV001410234]likely benign121356460713564607Human1name
127251700CV1079265single nucleotide variantNM_000834.5(GRIN2B):c.2442C>T (p.Asp814=)Intellectual disability, autosomal dominant 6 [RCV001417855]likely benign121356718113567181Human1name
127277066CV1079266single nucleotide variantNM_000834.5(GRIN2B):c.2259T>C (p.Ser753=)Intellectual disability, autosomal dominant 6 [RCV001407539]likely benign121356993013569930Human1name
127247169CV1079267single nucleotide variantNM_000834.5(GRIN2B):c.2139T>C (p.Gly713=)Intellectual disability, autosomal dominant 6 [RCV001399093]likely benign121357183613571836Human1name
127239280CV1079268single nucleotide variantNM_000834.5(GRIN2B):c.2103A>G (p.Glu701=)Intellectual disability, autosomal dominant 6 [RCV001397510]likely benign121357187213571872Human1name
127265807CV1079269single nucleotide variantNM_000834.5(GRIN2B):c.2040T>C (p.Pro680=)Intellectual disability, autosomal dominant 6 [RCV001403664]|not provided [RCV001580595]likely benign121357193513571935Human1name
127277856CV1079270single nucleotide variantNM_000834.5(GRIN2B):c.1998G>A (p.Leu666=)Intellectual disability, autosomal dominant 6 [RCV001408091]likely benign121360861513608615Human1name
127230623CV1079271single nucleotide variantNM_000834.5(GRIN2B):c.1923C>A (p.Ile641=)Intellectual disability, autosomal dominant 6 [RCV001412562]likely benign121360869013608690Human1name
127278330CV1079272single nucleotide variantNM_000834.5(GRIN2B):c.1797T>A (p.Ser599=)Intellectual disability, autosomal dominant 6 [RCV001408419]likely benign121360881613608816Human1name
127239476CV1079274single nucleotide variantNM_000834.5(GRIN2B):c.1671C>T (p.Asp557=)Intellectual disability, autosomal dominant 6 [RCV001415348]likely benign121361183413611834Human1name
127277834CV1079275single nucleotide variantNM_000834.5(GRIN2B):c.1566G>A (p.Val522=)Intellectual disability, autosomal dominant 6 [RCV001408077]likely benign121361520213615202Human1name
127235568CV1079276single nucleotide variantNM_000834.5(GRIN2B):c.1539C>T (p.Leu513=)Intellectual disability, autosomal dominant 6 [RCV001391911]likely benign121361522913615229Human1name
127245680CV1079278single nucleotide variantNM_000834.5(GRIN2B):c.1308C>T (p.Cys436=)Intellectual disability, autosomal dominant 6 [RCV001416549]likely benign121361647513616475Human1name
127253233CV1101027single nucleotide variantNM_000834.5(GRIN2B):c.2826G>T (p.Thr942=)Intellectual disability, autosomal dominant 6 [RCV001425967]|not provided [RCV004546652]likely benign121356441213564412Human1name
127278428CV1101028single nucleotide variantNM_000834.5(GRIN2B):c.2430C>T (p.Ser810=)Intellectual disability, autosomal dominant 6 [RCV001445068]likely benign121356719313567193Human1name
127282817CV1101030single nucleotide variantNM_000834.5(GRIN2B):c.1902G>A (p.Val634=)Intellectual disability, autosomal dominant 6 [RCV001448108]likely benign121360871113608711Human1name
127244889CV1101031single nucleotide variantNM_000834.5(GRIN2B):c.1824G>A (p.Leu608=)Intellectual disability, autosomal dominant 6 [RCV001435124]likely benign121360878913608789Human1name
127239696CV1101032single nucleotide variantNM_000834.5(GRIN2B):c.1596A>G (p.Thr532=)Intellectual disability, autosomal dominant 6 [RCV001423171]likely benign121361517213615172Human1name
127266667CV1101033single nucleotide variantNM_000834.5(GRIN2B):c.1302C>T (p.Val434=)Intellectual disability, autosomal dominant 6 [RCV001440295]likely benign121361648113616481Human1name
127298362CV1122475single nucleotide variantNM_000834.5(GRIN2B):c.2685C>T (p.His895=)Intellectual disability, autosomal dominant 6 [RCV001460542]likely benign121356455313564553Human1name
127324077CV1122476single nucleotide variantNM_000834.5(GRIN2B):c.2661C>A (p.Pro887=)Intellectual disability, autosomal dominant 6 [RCV001468109]|not provided [RCV002264337]likely benign121356457713564577Human1name
127298902CV1122481single nucleotide variantNM_000834.5(GRIN2B):c.1581G>A (p.Val527=)Intellectual disability, autosomal dominant 6 [RCV001460664]likely benign121361518713615187Human1name
127316981CV1122482single nucleotide variantNM_000834.5(GRIN2B):c.1221C>T (p.Ser407=)Intellectual disability, autosomal dominant 6 [RCV001465692]|not provided [RCV001619908]benign|likely benign121361656213616562Human1name
127310940CV1143338single nucleotide variantNM_000834.5(GRIN2B):c.2790C>G (p.Ser930=)Intellectual disability, autosomal dominant 6 [RCV001501497]likely benign121356444813564448Human1name
127312414CV1143339single nucleotide variantNM_000834.5(GRIN2B):c.2151A>G (p.Ala717=)Intellectual disability, autosomal dominant 6 [RCV001501920]likely benign121357182413571824Human1name
127314485CV1143340single nucleotide variantNM_000834.5(GRIN2B):c.2148T>C (p.Asp716=)Intellectual disability, autosomal dominant 6 [RCV001482229]likely benign121357182713571827Human1name
127325040CV1143341single nucleotide variantNM_000834.5(GRIN2B):c.1377G>T (p.Gly459=)Intellectual disability, autosomal dominant 6 [RCV001505868]likely benign121361561613615616Human1name
127321748CV1156945single nucleotide variantNM_000834.5(GRIN2B):c.2700C>A (p.Arg900=)Intellectual disability, autosomal dominant 6 [RCV001523194]benign121356453813564538Human1name
150335212CV1164410single nucleotide variantNM_000834.5(GRIN2B):c.2172G>T (p.Gly724=)not provided [RCV001530167]likely benign121357001713570017Humanname
150451960CV1276663single nucleotide variantNM_000834.5(GRIN2B):c.1875G>C (p.Gly625=)Inborn genetic diseases [RCV002414298]|Intellectual disability, autosomal dominant 6 [RCV002073310]|not provided [RCV001708452]likely benign121360873813608738Human2name
150488471CV1284026single nucleotide variantNM_000834.5(GRIN2B):c.2637G>A (p.Glu879=)Intellectual disability, autosomal dominant 6 [RCV002538661]|not provided [RCV001716108]likely benign121356460113564601Human1name
150521219CV1290973single nucleotide variantNM_000834.5(GRIN2B):c.2910C>T (p.Phe970=)Inborn genetic diseases [RCV002440847]|Intellectual disability, autosomal dominant 6 [RCV002073972]|not provided [RCV001732586]likely benign121356432813564328Human2name
150554892CV1309642single nucleotide variantNM_000834.5(GRIN2B):c.286G>C (p.Gly96Arg)Intellectual disability, autosomal dominant 6 [RCV002540721]|not provided [RCV003238686]uncertain significance121386592313865923Human1name
8659691CV134646single nucleotide variantNM_000834.5(GRIN2B):c.1665C>T (p.Ser555=)Developmental and epileptic encephalopathy, 27 [RCV001701602]|Inborn genetic diseases [RCV002312127]|Intellectual disability, autosomal dominant 6 [RCV000615174]|Intellectual disability, autosomal dominant 6 [RCV001517088]|not provided [RCV000711873]|not specified [RCV000117191]benign|likely benign121361184013611840Human3name
8659692CV134647single nucleotide variantNM_000834.5(GRIN2B):c.1806C>T (p.Ile602=)Inborn genetic diseases [RCV002312128]|Intellectual disability, autosomal dominant 6 [RCV001516889]|not provided [RCV004706529]|not specified [RCV000117192]benign|likely benign|conflicting interpretations of pathogenicity121360880713608807Human2name
8659693CV134648single nucleotide variantNM_000834.5(GRIN2B):c.2514C>T (p.Cys838=)Inborn genetic diseases [RCV002312129]|Intellectual disability, autosomal dominant 6 [RCV001511161]|not provided [RCV000710141]|not specified [RCV000117193]benign|likely benign|conflicting interpretations of pathogenicity121356710913567109Human2name
151779963CV1381325single nucleotide variantNM_000834.5(GRIN2B):c.185T>C (p.Leu62Pro)Intellectual disability, autosomal dominant 6 [RCV001881711]uncertain significance121386602413866024Human1name
151775341CV1383361single nucleotide variantNM_000834.5(GRIN2B):c.2394T>A (p.Thr798=)Intellectual disability, autosomal dominant 6 [RCV001874207]likely benign|uncertain significance121356722913567229Human1name
151824336CV1387862single nucleotide variantNM_000834.5(GRIN2B):c.188C>T (p.Ser63Phe)Intellectual disability, autosomal dominant 6 [RCV001970908]benign|uncertain significance121386602113866021Human1name
151780083CV1390193single nucleotide variantNM_000834.5(GRIN2B):c.274C>T (p.Arg92Trp)Inborn genetic diseases [RCV002553607]|Intellectual disability, autosomal dominant 6 [RCV001881960]uncertain significance121386593513865935Human2name
8691261CV141221single nucleotide variantNM_000834.5(GRIN2B):c.1338A>G (p.Thr446=)Inborn genetic diseases [RCV002316374]|Intellectual disability, autosomal dominant 6 [RCV000535546]|not provided [RCV005229947]|not specified [RCV000125325]benign|likely benign121361565513615655Human2name
8691262CV141222single nucleotide variantNM_000834.5(GRIN2B):c.2628G>A (p.Ala876=)GRIN2B-related disorder [RCV004544255]|Inborn genetic diseases [RCV002316375]|Intellectual disability, autosomal dominant 6 [RCV000862725]|not specified [RCV000125327]benign|likely benign|uncertain significance121356461013564610Human2name , alternate_id
151712387CV1430507single nucleotide variantNM_000834.5(GRIN2B):c.1995C>T (p.Gly665=)Intellectual disability, autosomal dominant 6 [RCV002006836]likely benign|uncertain significance121360861813608618Human1name
151780781CV1453702single nucleotide variantNM_000834.5(GRIN2B):c.104T>C (p.Ile35Thr)Intellectual disability, autosomal dominant 6 [RCV001883185]|not provided [RCV002282626]benign|uncertain significance121386610513866105Human1name
151825755CV1503903single nucleotide variantNM_000834.5(GRIN2B):c.1440G>A (p.Leu480=)Intellectual disability, autosomal dominant 6 [RCV001973663]likely benign|uncertain significance121361555313615553Human1name
151828397CV1515152single nucleotide variantNM_000834.5(GRIN2B):c.187T>C (p.Ser63Pro)Intellectual disability, autosomal dominant 6 [RCV001978506]uncertain significance121386602213866022Human1name
152168254CV1524864single nucleotide variantNM_000834.5(GRIN2B):c.2152T>C (p.Leu718=)Intellectual disability, autosomal dominant 6 [RCV002182379]likely benign121357182313571823Human1name
152111895CV1539146single nucleotide variantNM_000834.5(GRIN2B):c.1086G>C (p.Leu362=)Intellectual disability, autosomal dominant 6 [RCV002080366]likely benign121367578413675784Human1name
152103245CV1548539single nucleotide variantNM_000834.5(GRIN2B):c.1629G>A (p.Gly543=)Intellectual disability, autosomal dominant 6 [RCV002079260]likely benign121361513913615139Human1name
152076476CV1551470single nucleotide variantNM_000834.5(GRIN2B):c.1167T>C (p.Tyr389=)Intellectual disability, autosomal dominant 6 [RCV002192476]likely benign121361661613616616Human1name
152063159CV1554277single nucleotide variantNM_000834.5(GRIN2B):c.2730C>T (p.Asn910=)Intellectual disability, autosomal dominant 6 [RCV002190775]likely benign121356450813564508Human1name
152088358CV1562910single nucleotide variantNM_000834.5(GRIN2B):c.1866C>T (p.Asn622=)Intellectual disability, autosomal dominant 6 [RCV002113728]likely benign121360874713608747Human1name
152092129CV1567727single nucleotide variantNM_000834.5(GRIN2B):c.2748C>T (p.Gly916=)Intellectual disability, autosomal dominant 6 [RCV002212871]likely benign121356449013564490Human1name
152054001CV1573439single nucleotide variantNM_000834.5(GRIN2B):c.2913G>C (p.Gly971=)Intellectual disability, autosomal dominant 6 [RCV002207857]likely benign121356432513564325Human1name
152137832CV1580489single nucleotide variantNM_000834.5(GRIN2B):c.2823C>T (p.Phe941=)Intellectual disability, autosomal dominant 6 [RCV002156367]|not specified [RCV004801171]likely benign121356441513564415Human1name
152141724CV1583422single nucleotide variantNM_000834.5(GRIN2B):c.1377G>C (p.Gly459=)Intellectual disability, autosomal dominant 6 [RCV002120465]|See cases [RCV002252769]likely benign|uncertain significance121361561613615616Human1name
152174560CV1591192single nucleotide variantNM_000834.5(GRIN2B):c.1389C>T (p.Asp463=)Intellectual disability, autosomal dominant 6 [RCV002184553]likely benign121361560413615604Human1name
152133870CV1598594single nucleotide variantNM_000834.5(GRIN2B):c.2796T>C (p.Tyr932=)Intellectual disability, autosomal dominant 6 [RCV002177163]likely benign121356444213564442Human1name
152106529CV1605157single nucleotide variantNM_000834.5(GRIN2B):c.2655C>T (p.Asn885=)Intellectual disability, autosomal dominant 6 [RCV002196221]likely benign121356458313564583Human1name
152176499CV1631455single nucleotide variantNM_000834.5(GRIN2B):c.2649A>T (p.Val883=)Intellectual disability, autosomal dominant 6 [RCV002164644]likely benign121356458913564589Human1name
152106832CV1639084single nucleotide variantNM_000834.5(GRIN2B):c.2625G>T (p.Val875=)Intellectual disability, autosomal dominant 6 [RCV002152518]likely benign121356461313564613Human1name
152172551CV1641652single nucleotide variantNM_000834.5(GRIN2B):c.2757G>A (p.Gln919=)Intellectual disability, autosomal dominant 6 [RCV002183877]likely benign121356448113564481Human1name
152028527CV1655277single nucleotide variantNM_000834.5(GRIN2B):c.2898A>G (p.Val966=)Intellectual disability, autosomal dominant 6 [RCV002105264]likely benign121356434013564340Human1name
155672524CV1774035single nucleotide variantNM_000834.5(GRIN2B):c.104T>A (p.Ile35Asn)Intellectual disability, autosomal dominant 6 [RCV002297596]uncertain significance121386610513866105Human1name
155743212CV1839316single nucleotide variantNM_000834.5(GRIN2B):c.1836G>A (p.Leu612=)Inborn genetic diseases [RCV002412735]|Intellectual disability, autosomal dominant 6 [RCV003100880]likely benign121360877713608777Human2name
155695564CV1844658single nucleotide variantNM_000834.5(GRIN2B):c.225G>C (p.Glu75Asp)Inborn genetic diseases [RCV002443707]uncertain significance121386598413865984Human1name
155686212CV1853400single nucleotide variantNM_000834.5(GRIN2B):c.2790C>T (p.Ser930=)Inborn genetic diseases [RCV002441415]|Intellectual disability, autosomal dominant 6 [RCV003111549]likely benign121356444813564448Human2name
155683729CV1853588single nucleotide variantNM_000834.5(GRIN2B):c.2946A>G (p.Gln982=)Inborn genetic diseases [RCV002440219]|Intellectual disability, autosomal dominant 6 [RCV003775421]likely benign121356429213564292Human2name
155689342CV1856475single nucleotide variantNM_000834.5(GRIN2B):c.2976T>C (p.His992=)Inborn genetic diseases [RCV002442148]likely benign121356426213564262Human1name
155803555CV1858117single nucleotide variantNM_000834.5(GRIN2B):c.253A>G (p.Ile85Val)Intellectual disability, autosomal dominant 6 [RCV003103125]|not provided [RCV002462426]likely benign|uncertain significance121386595613865956Human1name
156231836CV1885175single nucleotide variantNM_000834.5(GRIN2B):c.2214T>C (p.Tyr738=)Intellectual disability, autosomal dominant 6 [RCV003085397]likely benign121356997513569975Human1name
156368885CV1904995single nucleotide variantNM_000834.5(GRIN2B):c.2109T>C (p.His703=)Intellectual disability, autosomal dominant 6 [RCV002582273]likely benign121357186613571866Human1name
156300156CV1929509single nucleotide variantNM_000834.5(GRIN2B):c.1332T>C (p.Asn444=)Intellectual disability, autosomal dominant 6 [RCV002647598]likely benign121361566113615661Human1name
156446418CV1937954single nucleotide variantNM_000834.5(GRIN2B):c.1839G>C (p.Val613=)Intellectual disability, autosomal dominant 6 [RCV003117922]likely benign121360877413608774Human1name
156444920CV1948970single nucleotide variantNM_000834.5(GRIN2B):c.2121A>C (p.Gly707=)Intellectual disability, autosomal dominant 6 [RCV003115854]likely benign121357185413571854Human1name
10396109CV202677single nucleotide variantNM_000834.5(GRIN2B):c.190G>A (p.Val64Met)Inborn genetic diseases [RCV002408833]|Intellectual disability, autosomal dominant 6 [RCV000524558]|not provided [RCV000994862]|not specified [RCV004998395]benign|likely benign|uncertain significance121386601913866019Human2name
10396110CV202678single nucleotide variantNM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly)Intellectual disability, autosomal dominant 6 [RCV001083356]|not provided [RCV000187695]|not specified [RCV001818452]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance121386606913866069Human1name
10397608CV202679single nucleotide variantNM_000834.5(GRIN2B):c.125T>C (p.Val42Ala)not provided [RCV000187715]uncertain significance121386608413866084Humanname
155996950CV2045305single nucleotide variantNM_000834.5(GRIN2B):c.2319G>A (p.Lys773=)Intellectual disability, autosomal dominant 6 [RCV002756009]likely benign121356987013569870Human1name
156125389CV2046696single nucleotide variantNM_000834.5(GRIN2B):c.1143C>T (p.Asp381=)Intellectual disability, autosomal dominant 6 [RCV002800396]likely benign121361664013616640Human1name
156326000CV2054130single nucleotide variantNM_000834.5(GRIN2B):c.1128G>A (p.Val376=)Intellectual disability, autosomal dominant 6 [RCV002810398]likely benign121361665513616655Human1name
156336806CV2057813single nucleotide variantNM_000834.5(GRIN2B):c.182A>G (p.His61Arg)Intellectual disability, autosomal dominant 6 [RCV002810984]uncertain significance121386602713866027Human1name
156249520CV2060314single nucleotide variantNM_000834.5(GRIN2B):c.1047G>A (p.Leu349=)Intellectual disability, autosomal dominant 6 [RCV002791643]likely benign121367582313675823Human1name
156017017CV2061682single nucleotide variantNM_000834.5(GRIN2B):c.2721C>T (p.Asn907=)Intellectual disability, autosomal dominant 6 [RCV002820425]likely benign121356451713564517Human1name
156192373CV2066432single nucleotide variantNM_000834.5(GRIN2B):c.1536A>G (p.Ser512=)Intellectual disability, autosomal dominant 6 [RCV002828649]likely benign121361523213615232Human1name
156218811CV2070799single nucleotide variantNM_000834.5(GRIN2B):c.2889C>T (p.Ile963=)Intellectual disability, autosomal dominant 6 [RCV002829604]likely benign121356434913564349Human1name
155971278CV2077224single nucleotide variantNM_000834.5(GRIN2B):c.1896G>A (p.Val632=)Intellectual disability, autosomal dominant 6 [RCV002863327]likely benign121360871713608717Human1name
10403753CV207945single nucleotide variantNM_000834.5(GRIN2B):c.1851C>T (p.Ser617=)Inborn genetic diseases [RCV002317688]|Intellectual disability, autosomal dominant 6 [RCV000548537]|Intellectual disability, autosomal dominant 6 [RCV000610372]|not provided [RCV004808621]|not specified [RCV000193332]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance121360876213608762Human2name
10403425CV207946single nucleotide variantNM_000834.5(GRIN2B):c.1479C>G (p.Thr493=)Intellectual disability, autosomal dominant 6 [RCV002517079]|not specified [RCV000192492]benign|uncertain significance121361551413615514Human1name
10406808CV207947single nucleotide variantNM_000834.5(GRIN2B):c.248C>T (p.Thr83Ile)not specified [RCV000194221]uncertain significance121386596113865961Humanname
156221237CV2084019single nucleotide variantNM_000834.5(GRIN2B):c.1908C>T (p.Ala636=)Intellectual disability, autosomal dominant 6 [RCV002875877]likely benign121360870513608705Human1name
155911117CV2084779single nucleotide variantNM_000834.5(GRIN2B):c.2628G>C (p.Ala876=)Intellectual disability, autosomal dominant 6 [RCV002858499]likely benign121356461013564610Human1name
155976918CV2085294single nucleotide variantNM_000834.5(GRIN2B):c.2733G>A (p.Leu911=)Intellectual disability, autosomal dominant 6 [RCV002863576]likely benign121356450513564505Human1name
156325479CV2108525single nucleotide variantNM_000834.5(GRIN2B):c.1053C>T (p.Phe351=)Intellectual disability, autosomal dominant 6 [RCV002938054]likely benign121367581713675817Human1name
156387530CV2122118single nucleotide variantNM_000834.5(GRIN2B):c.2979T>C (p.Ser993=)Intellectual disability, autosomal dominant 6 [RCV002943601]likely benign121356425913564259Human1name
156001151CV2122875single nucleotide variantNM_000834.5(GRIN2B):c.1266G>A (p.Val422=)Intellectual disability, autosomal dominant 6 [RCV002975185]likely benign121361651713616517Human1name
155956957CV2141831single nucleotide variantNM_000834.5(GRIN2B):c.244A>G (p.Ile82Val)Intellectual disability, autosomal dominant 6 [RCV002972176]uncertain significance121386596513865965Human1name
155916856CV2152287single nucleotide variantNM_000834.5(GRIN2B):c.1596A>C (p.Thr532=)Intellectual disability, autosomal dominant 6 [RCV002991701]likely benign121361517213615172Human1name
156104982CV2180904single nucleotide variantNM_000834.5(GRIN2B):c.2181T>C (p.Asp727=)Intellectual disability, autosomal dominant 6 [RCV003054864]likely benign121357000813570008Human1name
11089618CV231846single nucleotide variantNM_000834.5(GRIN2B):c.251G>A (p.Arg84His)Inborn genetic diseases [RCV002429083]|Intellectual disability, autosomal dominant 6 [RCV005222845]|not provided [RCV000215040]likely benign|uncertain significance121386595813865958Human2name
243059895CV2412805single nucleotide variantNM_000834.5(GRIN2B):c.200G>A (p.Arg67Gln)Intellectual disability, autosomal dominant 6 [RCV005227884]|not provided [RCV003135473]uncertain significance121386600913866009Human1name
11523364CV244791single nucleotide variantNM_000834.5(GRIN2B):c.2703G>A (p.Leu901=)Inborn genetic diseases [RCV002311362]|Intellectual disability, autosomal dominant 6 [RCV000459005]|not specified [RCV000235696]benign|likely benign|uncertain significance121356453513564535Human2name
11523393CV244794single nucleotide variantNM_000834.5(GRIN2B):c.2481G>A (p.Ala827=)Inborn genetic diseases [RCV002313965]|Intellectual disability, autosomal dominant 6 [RCV000476811]|not provided [RCV001529239]benign|likely benign|uncertain significance121356714213567142Human2name
11523099CV244797single nucleotide variantNM_000834.5(GRIN2B):c.2202A>G (p.Ala734=)Inborn genetic diseases [RCV002317774]|Intellectual disability, autosomal dominant 6 [RCV000655338]|not provided [RCV004703499]|not specified [RCV000235336]benign|likely benign121356998713569987Human2name
11523405CV244800single nucleotide variantNM_000834.5(GRIN2B):c.2017A>C (p.Arg673=)Intellectual disability, autosomal dominant 6 [RCV000541820]|not specified [RCV000235852]likely benign121357195813571958Human1name
11524141CV244807single nucleotide variantNM_000834.5(GRIN2B):c.1125G>A (p.Arg375=)GRIN2B-related disorder [RCV004532975]|Intellectual disability, autosomal dominant 6 [RCV001364200]|not provided [RCV000237026]likely benign|uncertain significance121367574513675745Human1name , alternate_id
11523354CV244808single nucleotide variantNM_000834.5(GRIN2B):c.1038G>A (p.Gly346=)Intellectual disability, autosomal dominant 6 [RCV002057260]|not provided [RCV001697620]likely benign121367583213675832Human1name
11523277CV244809single nucleotide variantNM_000834.5(GRIN2B):c.1035G>A (p.Glu345=)Intellectual disability, autosomal dominant 6 [RCV001399201]|not specified [RCV000235478]benign|likely benign121367583513675835Human1name
11523616CV244810single nucleotide variantNM_000834.5(GRIN2B):c.1020C>T (p.Ile340=)Intellectual disability, autosomal dominant 6 [RCV000884738]|not provided [RCV001753711]benign|likely benign121367585013675850Human1name
401856474CV2752532single nucleotide variantNM_000834.5(GRIN2B):c.157G>T (p.Ala53Ser)Developmental and epileptic encephalopathy, 27 [RCV003340870]uncertain significance121386605213866052Human1name
401905983CV2806757single nucleotide variantNM_000834.5(GRIN2B):c.2997C>T (p.Ser999=)not provided [RCV003396250]likely benign121356424113564241Humanname
401905985CV2806758single nucleotide variantNM_000834.5(GRIN2B):c.2457A>G (p.Ala819=)Intellectual disability, autosomal dominant 6 [RCV005228042]|not provided [RCV003396251]likely benign121356716613567166Human1name
401905987CV2806760single nucleotide variantNM_000834.5(GRIN2B):c.1479C>T (p.Thr493=)not provided [RCV003396253]likely benign121361551413615514Humanname
401905989CV2806761single nucleotide variantNM_000834.5(GRIN2B):c.1449T>C (p.Asn483=)not provided [RCV003396254]likely benign121361554413615544Humanname
405023319CV3081909single nucleotide variantNM_000834.5(GRIN2B):c.2919G>A (p.Leu973=)Intellectual disability, autosomal dominant 6 [RCV003785515]likely benign121356431913564319Human1name
405022666CV3084898single nucleotide variantNM_000834.5(GRIN2B):c.2877C>T (p.Phe959=)Intellectual disability, autosomal dominant 6 [RCV003795764]likely benign121356436113564361Human1name
405022692CV3084900single nucleotide variantNM_000834.5(GRIN2B):c.2385C>G (p.Leu795=)Intellectual disability, autosomal dominant 6 [RCV003795766]likely benign121356723813567238Human1name
405022705CV3084901single nucleotide variantNM_000834.5(GRIN2B):c.1701C>T (p.Leu567=)Intellectual disability, autosomal dominant 6 [RCV003795767]likely benign121361180413611804Human1name
404996375CV3085483single nucleotide variantNM_000834.5(GRIN2B):c.2064C>T (p.Asn688=)Intellectual disability, autosomal dominant 6 [RCV003783014]likely benign121357191113571911Human1name
404996751CV3085517single nucleotide variantNM_000834.5(GRIN2B):c.2163G>A (p.Leu721=)Intellectual disability, autosomal dominant 6 [RCV003783048]likely benign121357181213571812Human1name
402512399CV3087388single nucleotide variantNM_000834.5(GRIN2B):c.199C>T (p.Arg67Trp)Intellectual disability, autosomal dominant 6 [RCV003789739]likely benign121386601013866010Human1name
402508747CV3088838single nucleotide variantNM_000834.5(GRIN2B):c.1401A>G (p.Lys467=)Intellectual disability, autosomal dominant 6 [RCV003780042]likely benign121361559213615592Human1name
402495653CV3092436single nucleotide variantNM_000834.5(GRIN2B):c.1608C>T (p.Val536=)Intellectual disability, autosomal dominant 6 [RCV003788056]likely benign121361516013615160Human1name
402497368CV3092745single nucleotide variantNM_000834.5(GRIN2B):c.1245A>G (p.Pro415=)Intellectual disability, autosomal dominant 6 [RCV003788208]likely benign121361653813616538Human1name
405019680CV3094478single nucleotide variantNM_000834.5(GRIN2B):c.2205G>A (p.Val735=)Intellectual disability, autosomal dominant 6 [RCV003785168]likely benign121356998413569984Human1name
404989876CV3094610single nucleotide variantNM_000834.5(GRIN2B):c.2517A>G (p.Glu839=)Intellectual disability, autosomal dominant 6 [RCV003792621]likely benign121356710613567106Human1name
404982371CV3100085single nucleotide variantNM_000834.5(GRIN2B):c.2779C>A (p.Arg927=)Intellectual disability, autosomal dominant 6 [RCV003791752]likely benign121356445913564459Human1name
405017428CV3100748single nucleotide variantNM_000834.5(GRIN2B):c.1347G>A (p.Glu449=)Intellectual disability, autosomal dominant 6 [RCV003805496]likely benign121361564613615646Human1name
405018841CV3100900single nucleotide variantNM_000834.5(GRIN2B):c.1758C>T (p.Asn586=)Intellectual disability, autosomal dominant 6 [RCV003805648]likely benign121361174713611747Human1name
405003864CV3102233single nucleotide variantNM_000834.5(GRIN2B):c.2646T>C (p.Ser882=)Intellectual disability, autosomal dominant 6 [RCV003804279]likely benign121356459213564592Human1name
405170927CV3104336single nucleotide variantNM_000834.5(GRIN2B):c.1932C>G (p.Ala644=)Intellectual disability, autosomal dominant 6 [RCV003803013]likely benign121360868113608681Human1name
405035081CV3108563single nucleotide variantNM_000834.5(GRIN2B):c.2301A>G (p.Gln767=)Intellectual disability, autosomal dominant 6 [RCV003807021]likely benign121356988813569888Human1name
405009473CV3109069single nucleotide variantNM_000834.5(GRIN2B):c.1773T>C (p.Asp591=)Intellectual disability, autosomal dominant 6 [RCV003804736]likely benign121361173213611732Human1name
405067188CV3110973single nucleotide variantNM_000834.5(GRIN2B):c.1386T>C (p.Ile462=)Intellectual disability, autosomal dominant 6 [RCV003809477]likely benign121361560713615607Human1name
405072062CV3111451single nucleotide variantNM_000834.5(GRIN2B):c.266T>C (p.Met89Thr)Intellectual disability, autosomal dominant 6 [RCV003809790]uncertain significance121386594313865943Human1name
405108165CV3112256single nucleotide variantNM_000834.5(GRIN2B):c.2184C>T (p.Ala728=)Intellectual disability, autosomal dominant 6 [RCV003813099]likely benign121357000513570005Human1name
405109119CV3112405single nucleotide variantNM_000834.5(GRIN2B):c.101G>C (p.Ser34Thr)Intellectual disability, autosomal dominant 6 [RCV003813248]uncertain significance121386610813866108Human1name
405108977CV3112447single nucleotide variantNM_000834.5(GRIN2B):c.251G>C (p.Arg84Pro)Intellectual disability, autosomal dominant 6 [RCV003813290]|not provided [RCV004780663]uncertain significance121386595813865958Human1name
405039250CV3112713single nucleotide variantNM_000834.5(GRIN2B):c.2242C>T (p.Leu748=)Intellectual disability, autosomal dominant 6 [RCV003807380]likely benign121356994713569947Human1name
405105185CV3113178single nucleotide variantNM_000834.5(GRIN2B):c.1659A>C (p.Pro553=)Intellectual disability, autosomal dominant 6 [RCV003812469]likely benign121361184613611846Human1name
405106210CV3113383single nucleotide variantNM_000834.5(GRIN2B):c.2835C>T (p.Asp945=)Intellectual disability, autosomal dominant 6 [RCV003812675]likely benign121356440313564403Human1name
405107249CV3113785single nucleotide variantNM_000834.5(GRIN2B):c.1560G>C (p.Ser520=)Intellectual disability, autosomal dominant 6 [RCV003812908]likely benign121361520813615208Human1name
405107556CV3113832single nucleotide variantNM_000834.5(GRIN2B):c.1965C>A (p.Ile655=)Intellectual disability, autosomal dominant 6 [RCV003812955]likely benign121360864813608648Human1name
11612145CV323841single nucleotide variantNM_000834.5(GRIN2B):c.1767C>T (p.Leu589=)Intellectual disability, autosomal dominant 6 [RCV001484672]likely benign|uncertain significance121361173813611738Human1name
11607494CV323848single nucleotide variantNM_000834.5(GRIN2B):c.1569C>T (p.Val523=)GRIN2B-related disorder [RCV004734971]|Inborn genetic diseases [RCV002314046]|Intellectual disability, autosomal dominant 6 [RCV000866738]|not provided [RCV001718626]benign|likely benign|uncertain significance121361519913615199Human2name , alternate_id
11604419CV323858single nucleotide variantNM_000834.5(GRIN2B):c.1320A>T (p.Ile440=)Intellectual disability, autosomal dominant 6 [RCV002142167]likely benign|uncertain significance121361646313616463Human1name
11614740CV329923single nucleotide variantNM_000834.5(GRIN2B):c.2247G>A (p.Val749=)Inborn genetic diseases [RCV002317831]|Intellectual disability, autosomal dominant 6 [RCV001502692]|not provided [RCV000655332]|not specified [RCV004999284]likely benign|uncertain significance121356994213569942Human2name
11623644CV329926single nucleotide variantNM_000834.4(GRIN2B):c.2169A>T (p.Thr723=)Intellectual Disability, Dominant [RCV000375589]uncertain significance121357180613571806Humanname
11663754CV329927single nucleotide variantNM_000834.5(GRIN2B):c.1500G>A (p.Glu500=)Intellectual disability, autosomal dominant 6 [RCV003790091]|not specified [RCV005240930]uncertain significance121361549313615493Human1name
11622764CV331237single nucleotide variantNM_000834.5(GRIN2B):c.2826G>A (p.Thr942=)Intellectual disability, autosomal dominant 6 [RCV000865734]|not provided [RCV001697659]likely benign|uncertain significance121356441213564412Human1name
405852828CV3393254single nucleotide variantNM_000834.5(GRIN2B):c.2688C>A (p.Ser896=)not provided [RCV004545984]likely benign121356455013564550Humanname
596929340CV3531041single nucleotide variantNM_000834.5(GRIN2B):c.233C>G (p.Pro78Arg)Intellectual disability, autosomal dominant 6 [RCV005052101]|not provided [RCV004779615]uncertain significance121386597613865976Human1name
12832871CV372139single nucleotide variantNM_000834.5(GRIN2B):c.1356C>T (p.Tyr452=)Inborn genetic diseases [RCV002318403]|Intellectual disability, autosomal dominant 6 [RCV000866098]|not provided [RCV001311290]|not specified [RCV001821164]benign|likely benign121361563713615637Human2name
12840510CV372143single nucleotide variantNM_000834.5(GRIN2B):c.1080G>T (p.Pro360=)Intellectual disability, autosomal dominant 6 [RCV001441331]|not specified [RCV000430853]likely benign121367579013675790Human1name
12838823CV372857single nucleotide variantNM_000834.5(GRIN2B):c.2046C>G (p.Arg682=)not specified [RCV000427676]likely benign121357192913571929Humanname
12836750CV372862single nucleotide variantNM_000834.5(GRIN2B):c.1704C>T (p.Ile568=)Inborn genetic diseases [RCV002411292]|Intellectual disability, autosomal dominant 6 [RCV000560290]|not specified [RCV000423957]benign|likely benign121361180113611801Human2name
12836911CV373108single nucleotide variantNM_000834.5(GRIN2B):c.1881C>T (p.Thr627=)Intellectual disability, autosomal dominant 6 [RCV003766351]|not specified [RCV000424248]likely benign121360873213608732Human1name
12842926CV374875single nucleotide variantNM_000834.5(GRIN2B):c.1099C>T (p.Leu367=)not specified [RCV000435293]likely benign121367577113675771Humanname
597895702CV3865408single nucleotide variantNM_000834.5(GRIN2B):c.1806C>A (p.Ile602=)Intellectual disability, autosomal dominant 6 [RCV005219531]uncertain significance121360880713608807Human1name
597838530CV3867009single nucleotide variantNM_000834.5(GRIN2B):c.1068C>T (p.Tyr356=)Intellectual disability, autosomal dominant 6 [RCV005226001]likely benign121367580213675802Human1name
597855019CV3870588single nucleotide variantNM_000834.5(GRIN2B):c.2161C>T (p.Leu721=)Intellectual disability, autosomal dominant 6 [RCV005228789]likely benign121357181413571814Human1name
597878662CV3871890single nucleotide variantNM_000834.5(GRIN2B):c.1734G>A (p.Glu578=)Intellectual disability, autosomal dominant 6 [RCV005216941]likely benign121361177113611771Human1name
597847926CV3872763single nucleotide variantNM_000834.5(GRIN2B):c.1003C>T (p.Leu335=)Intellectual disability, autosomal dominant 6 [RCV005212399]likely benign121375332413753324Human1name
597849863CV3873006single nucleotide variantNM_000834.5(GRIN2B):c.167A>C (p.Lys56Thr)Intellectual disability, autosomal dominant 6 [RCV005212644]uncertain significance121386604213866042Human1name
597903100CV3873156single nucleotide variantNM_000834.5(GRIN2B):c.1230C>T (p.Thr410=)Intellectual disability, autosomal dominant 6 [RCV005220594]likely benign121361655313616553Human1name
597874043CV3874847single nucleotide variantNM_000834.5(GRIN2B):c.1185T>C (p.Cys395=)Intellectual disability, autosomal dominant 6 [RCV005216323]likely benign121361659813616598Human1name
597900741CV3876554single nucleotide variantNM_000834.5(GRIN2B):c.2176C>T (p.Leu726=)Intellectual disability, autosomal dominant 6 [RCV005220252]likely benign121357001313570013Human1name
597901338CV3876634single nucleotide variantNM_000834.5(GRIN2B):c.1230C>G (p.Thr410=)Intellectual disability, autosomal dominant 6 [RCV005220332]likely benign121361655313616553Human1name
597902637CV3876760single nucleotide variantNM_000834.5(GRIN2B):c.2136G>A (p.Arg712=)Intellectual disability, autosomal dominant 6 [RCV005220458]likely benign121357183913571839Human1name
597925790CV3877306single nucleotide variantNM_000834.5(GRIN2B):c.1251C>T (p.Val417=)Intellectual disability, autosomal dominant 6 [RCV005224002]likely benign121361653213616532Human1name
597931167CV3878552single nucleotide variantNM_000834.5(GRIN2B):c.2268C>G (p.Val756=)Intellectual disability, autosomal dominant 6 [RCV005224922]likely benign121356992113569921Human1name
597931248CV3878564single nucleotide variantNM_000834.5(GRIN2B):c.2499C>T (p.Leu833=)Intellectual disability, autosomal dominant 6 [RCV005224934]likely benign121356712413567124Human1name
598128469CV3887673single nucleotide variantNM_000834.5(GRIN2B):c.160C>T (p.His54Tyr)not provided [RCV005243847]uncertain significance121386604913866049Humanname
12889441CV399031single nucleotide variantNM_000834.5(GRIN2B):c.2847C>T (p.Tyr949=)Inborn genetic diseases [RCV002318564]|Intellectual disability, autosomal dominant 6 [RCV000472747]likely benign121356439113564391Human2name
12884742CV399340single nucleotide variantNM_000834.5(GRIN2B):c.1023T>C (p.Asn341=)Intellectual disability, autosomal dominant 6 [RCV000464030]|not provided [RCV001562379]likely benign121367584713675847Human1name
12905703CV413335single nucleotide variantNM_000834.5(GRIN2B):c.1767C>G (p.Leu589=)not provided [RCV000487863]uncertain significance121361173813611738Humanname
13473654CV462055single nucleotide variantNM_000834.5(GRIN2B):c.2913G>A (p.Gly971=)Intellectual disability, autosomal dominant 6 [RCV000525473]likely benign121356432513564325Human1name
13526935CV503713single nucleotide variantNM_000834.5(GRIN2B):c.1560G>A (p.Ser520=)Inborn genetic diseases [RCV002315914]|Intellectual disability, autosomal dominant 6 [RCV000923578]|not provided [RCV005243306]|not specified [RCV000604793]likely benign121361520813615208Human2name
13541084CV503720single nucleotide variantNM_000834.5(GRIN2B):c.1275G>A (p.Leu425=)Inborn genetic diseases [RCV002377274]|Intellectual disability, autosomal dominant 6 [RCV001475520]|not provided [RCV001697877]likely benign121361650813616508Human2name
13536444CV504006single nucleotide variantNM_000834.5(GRIN2B):c.2202A>C (p.Ala734=)Intellectual disability, autosomal dominant 6 [RCV001462993]|not provided [RCV001722594]likely benign121356998713569987Human1name
13534652CV504719single nucleotide variantNM_000834.5(GRIN2B):c.2250C>G (p.Thr750=)Intellectual disability, autosomal dominant 6 [RCV001462078]|not provided [RCV001697965]likely benign121356993913569939Human1name
13538101CV504723single nucleotide variantNM_000834.5(GRIN2B):c.1704C>A (p.Ile568=)Inborn genetic diseases [RCV002317356]|not specified [RCV000611344]likely benign121361180113611801Human1name
13626763CV527029single nucleotide variantNM_000834.5(GRIN2B):c.2754G>A (p.Pro918=)Intellectual disability, autosomal dominant 6 [RCV000655333]likely benign121356448413564484Human1name
13626777CV527237single nucleotide variantNM_000834.5(GRIN2B):c.2715C>T (p.Ala905=)Intellectual disability, autosomal dominant 6 [RCV000655336]likely benign121356452313564523Human1name
13626761CV527546single nucleotide variantNM_000834.5(GRIN2B):c.1878C>A (p.Thr626=)Intellectual disability, autosomal dominant 6 [RCV000655328]likely benign121360873513608735Human1name
13706051CV537190single nucleotide variantNM_000834.5(GRIN2B):c.1176C>A (p.Pro392=)not provided [RCV000658640]likely benign121361660713616607Humanname
13830364CV579773single nucleotide variantNM_000834.5(GRIN2B):c.2991C>A (p.Ala997=)Inborn genetic diseases [RCV002317484]|Intellectual disability, autosomal dominant 6 [RCV000938288]likely benign121356424713564247Human2name
13829549CV579776single nucleotide variantNM_000834.5(GRIN2B):c.2856G>A (p.Pro952=)Inborn genetic diseases [RCV002315402]|Intellectual disability, autosomal dominant 6 [RCV001416780]|not provided [RCV001091149]likely benign121356438213564382Human2name
13830354CV579798single nucleotide variantNM_000834.5(GRIN2B):c.1080G>A (p.Pro360=)Inborn genetic diseases [RCV002317470]|Intellectual disability, autosomal dominant 6 [RCV001482674]|not provided [RCV004584800]likely benign121367579013675790Human2name
13830441CV580052single nucleotide variantNM_000834.5(GRIN2B):c.241A>G (p.Ile81Val)Inborn genetic diseases [RCV002317562]|Intellectual disability, autosomal dominant 6 [RCV003768156]uncertain significance121386596813865968Human2name
14709351CV641004single nucleotide variantNM_000834.5(GRIN2B):c.1287C>T (p.Cys429=)Intellectual disability, autosomal dominant 6 [RCV000809327]uncertain significance121361649613616496Human1name
15132111CV684314single nucleotide variantNM_000834.5(GRIN2B):c.2808G>A (p.Glu936=)Inborn genetic diseases [RCV002434077]|Intellectual disability, autosomal dominant 6 [RCV000863745]|not provided [RCV003392639]likely benign121356443013564430Human2name
15131518CV684315single nucleotide variantNM_000834.5(GRIN2B):c.2055C>T (p.Thr685=)Intellectual disability, autosomal dominant 6 [RCV001439809]|not provided [RCV000863631]likely benign121357192013571920Human1name
15134068CV684316single nucleotide variantNM_000834.5(GRIN2B):c.2001C>T (p.Ser667=)GRIN2B-related disorder [RCV004538214]|Intellectual disability, autosomal dominant 6 [RCV000864070]likely benign121360861213608612Human1name , alternate_id
15159843CV687944single nucleotide variantNM_000834.5(GRIN2B):c.2865G>A (p.Glu955=)Intellectual disability, autosomal dominant 6 [RCV001441183]likely benign121356437313564373Human1name
15162132CV687945single nucleotide variantNM_000834.5(GRIN2B):c.2145T>C (p.Asp715=)Intellectual disability, autosomal dominant 6 [RCV001487921]likely benign121357183013571830Human1name
15149863CV687948single nucleotide variantNM_000834.5(GRIN2B):c.250C>T (p.Arg84Cys)Intellectual disability, autosomal dominant 6 [RCV001447365]|not provided [RCV004808914]|not specified [RCV004768726]likely benign|uncertain significance121386595913865959Human1name
15109832CV693171single nucleotide variantNM_000834.5(GRIN2B):c.1350G>A (p.Pro450=)Intellectual disability, autosomal dominant 6 [RCV000871976]|not provided [RCV004705836]likely benign121361564313615643Human1name
15188410CV702253single nucleotide variantNM_000834.5(GRIN2B):c.2760C>T (p.Ser920=)Intellectual disability, autosomal dominant 6 [RCV001465323]likely benign121356447813564478Human1name
15122039CV753261single nucleotide variantNM_000834.5(GRIN2B):c.2631C>T (p.Ile877=)Intellectual disability, autosomal dominant 6 [RCV002065922]likely benign121356460713564607Human1name
15142333CV753262single nucleotide variantNM_000834.5(GRIN2B):c.1479C>A (p.Thr493=)Intellectual disability, autosomal dominant 6 [RCV001489701]|not provided [RCV003886453]likely benign121361551413615514Human1name
15149495CV769027single nucleotide variantNM_000834.5(GRIN2B):c.1938C>T (p.Tyr646=)Intellectual disability, autosomal dominant 6 [RCV001438651]likely benign121360867513608675Human1name
15187590CV769028single nucleotide variantNM_000834.5(GRIN2B):c.1620C>T (p.Arg540=)not provided [RCV000931705]likely benign121361514813615148Humanname
15116478CV784346single nucleotide variantNM_000834.5(GRIN2B):c.2550T>C (p.Phe850=)Intellectual disability, autosomal dominant 6 [RCV001445399]likely benign121356707313567073Human1name
15101670CV784347single nucleotide variantNM_000834.5(GRIN2B):c.1944C>T (p.Ala648=)Intellectual disability, autosomal dominant 6 [RCV000975637]likely benign121360866913608669Human1name
21074224CV796727single nucleotide variantNM_000834.5(GRIN2B):c.2613C>T (p.Cys871=)not provided [RCV000994857]uncertain significance121356462513564625Humanname
26897754CV822065single nucleotide variantNM_000834.5(GRIN2B):c.278A>G (p.Lys93Arg)Intellectual disability, autosomal dominant 6 [RCV001034302]benign121386593113865931Human1name
26923655CV839712single nucleotide variantNM_000834.5(GRIN2B):c.1674A>G (p.Val558=)Intellectual disability, autosomal dominant 6 [RCV001064394]likely benign|uncertain significance121361183113611831Human1name
26918095CV839717single nucleotide variantNM_000834.5(GRIN2B):c.282C>G (p.Ile94Met)Intellectual disability, autosomal dominant 6 [RCV001057538]uncertain significance121386592713865927Human1name
26921884CV839718single nucleotide variantNM_000834.5(GRIN2B):c.170A>T (p.Asp57Val)Inborn genetic diseases [RCV001267491]|Intellectual disability, autosomal dominant 6 [RCV001061387]|not provided [RCV001563009]likely benign|uncertain significance121386603913866039Human2name
38485638CV926579single nucleotide variantNM_000834.5(GRIN2B):c.1011G>A (p.Arg337=)Intellectual disability, autosomal dominant 6 [RCV001219961]likely benign|uncertain significance121367585913675859Human1name
38483306CV926580single nucleotide variantNM_000834.5(GRIN2B):c.232C>A (p.Pro78Thr)Intellectual disability, autosomal dominant 6 [RCV001218890]uncertain significance121386597713865977Human1name
38487126CV936042single nucleotide variantNM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln)GRIN2B-related disorder [RCV004538448]|Intellectual disability, autosomal dominant 6 [RCV001209184]|not provided [RCV003334048]benign|likely benign|uncertain significance121386593413865934Human1name , alternate_id
38471780CV947923single nucleotide variantNM_000834.5(GRIN2B):c.196C>T (p.Pro66Ser)Intellectual disability, autosomal dominant 6 [RCV001231304]uncertain significance121386601313866013Human1name
39456444CV965530single nucleotide variantNM_000834.5(GRIN2B):c.163G>A (p.Glu55Lys)Developmental and epileptic encephalopathy, 27 [RCV004799320]|Inborn genetic diseases [RCV002402797]|Intellectual disability, autosomal dominant 6 [RCV002570577]benign|uncertain significance121386604613866046Human3name
40815328CV970957single nucleotide variantNM_000834.5(GRIN2B):c.2010G>A (p.Lys670=)Developmental and epileptic encephalopathy, 27 [RCV001262646]|Intellectual disability, autosomal dominant 6 [RCV002537638]uncertain significance121360860313608603Human2name
40903906CV976365deletionNM_000834.5(GRIN2B):c.996del (p.Asn333fs)not provided [RCV001269761]pathogenic121375333113753331Humanname
126771083CV1030823single nucleotide variantNM_000834.5(GRIN2B):c.802A>C (p.Thr268Pro)Intellectual disability, autosomal dominant 6 [RCV001344834]uncertain significance121375352513753525Human1name
8644917CV104324single nucleotide variantNM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=)Inborn genetic diseases [RCV002311749]|Intellectual disability, autosomal dominant 6 [RCV000471775]|not provided [RCV000084722]|not specified [RCV000117201]benign|likely benign|not provided121356302013563020Human2name
8644918CV104325single nucleotide variantNM_000834.5(GRIN2B):c.4197T>C (p.His1399=)Developmental and epileptic encephalopathy, 27 [RCV001701664]|Inborn genetic diseases [RCV002311750]|Intellectual disability, autosomal dominant 6 [RCV001519994]|Intellectual disability, autosomal dominant 6 [RCV001701593]|not provided [RCV000084723]|not specified [RCV000117200]benign|likely benign|not provided121356304113563041Human3name
8644919CV104326single nucleotide variantNM_000834.5(GRIN2B):c.3648C>T (p.Arg1216=)Inborn genetic diseases [RCV002453415]|Intellectual disability, autosomal dominant 6 [RCV000655342]|not provided [RCV000084724]likely benign|not provided121356359013563590Human2name
126913372CV1047823single nucleotide variantNM_000834.5(GRIN2B):c.427T>C (p.Phe143Leu)Intellectual disability, autosomal dominant 6 [RCV001370078]uncertain significance121375390013753900Human1name
127252641CV1079251single nucleotide variantNM_000834.5(GRIN2B):c.4323T>C (p.Arg1441=)Intellectual disability, autosomal dominant 6 [RCV001418121]likely benign121356291513562915Human1name
127236271CV1079252single nucleotide variantNM_000834.5(GRIN2B):c.4245G>T (p.Ser1415=)Intellectual disability, autosomal dominant 6 [RCV001414639]likely benign121356299313562993Human1name
127239754CV1079253single nucleotide variantNM_000834.5(GRIN2B):c.4242G>A (p.Ala1414=)Intellectual disability, autosomal dominant 6 [RCV001397639]likely benign121356299613562996Human1name
127279805CV1079254single nucleotide variantNM_000834.5(GRIN2B):c.4101C>G (p.Pro1367=)Intellectual disability, autosomal dominant 6 [RCV001409344]likely benign121356313713563137Human1name
127236952CV1079255single nucleotide variantNM_000834.5(GRIN2B):c.4089C>T (p.His1363=)Intellectual disability, autosomal dominant 6 [RCV001414782]likely benign121356314913563149Human1name
127230587CV1079256single nucleotide variantNM_000834.5(GRIN2B):c.3621G>A (p.Glu1207=)Intellectual disability, autosomal dominant 6 [RCV001412536]likely benign121356361713563617Human1name
127245154CV1079257single nucleotide variantNM_000834.5(GRIN2B):c.3612G>A (p.Val1204=)Intellectual disability, autosomal dominant 6 [RCV001393828]likely benign121356362613563626Human1name
127236810CV1079258single nucleotide variantNM_000834.5(GRIN2B):c.3492C>T (p.Arg1164=)Intellectual disability, autosomal dominant 6 [RCV001392154]likely benign121356374613563746Human1name
127247041CV1079259single nucleotide variantNM_000834.5(GRIN2B):c.3054C>T (p.Ile1018=)Intellectual disability, autosomal dominant 6 [RCV001416841]likely benign121356418413564184Human1name
127282440CV1079260single nucleotide variantNM_000834.5(GRIN2B):c.3012C>T (p.Tyr1004=)Intellectual disability, autosomal dominant 6 [RCV001411123]likely benign121356422613564226Human1name
127230393CV1087075deletionNM_000834.5(GRIN2B):c.2825del (p.Thr942fs)See cases [RCV001420295]likely pathogenic121356441313564413Humanname
127230378CV1087076deletionNM_000834.5(GRIN2B):c.2555del (p.Gly852fs)See cases [RCV001420282]likely pathogenic121356706813567068Humanname
127260252CV1101017single nucleotide variantNM_000834.5(GRIN2B):c.4257G>A (p.Pro1419=)Intellectual disability, autosomal dominant 6 [RCV001438531]likely benign121356298113562981Human1name
127271206CV1101018single nucleotide variantNM_000834.5(GRIN2B):c.4092C>T (p.His1364=)Intellectual disability, autosomal dominant 6 [RCV001430850]likely benign121356314613563146Human1name
127243491CV1101019single nucleotide variantNM_000834.5(GRIN2B):c.3990C>T (p.Phe1330=)Intellectual disability, autosomal dominant 6 [RCV001423963]likely benign121356324813563248Human1name
127246098CV1101020single nucleotide variantNM_000834.5(GRIN2B):c.3702G>A (p.Ser1234=)Intellectual disability, autosomal dominant 6 [RCV001435336]likely benign121356353613563536Human1name
127244519CV1101021single nucleotide variantNM_000834.5(GRIN2B):c.3690G>C (p.Thr1230=)Intellectual disability, autosomal dominant 6 [RCV001424119]likely benign121356354813563548Human1name
127280326CV1101022single nucleotide variantNM_000834.5(GRIN2B):c.3573C>T (p.Ser1191=)Intellectual disability, autosomal dominant 6 [RCV001446380]likely benign121356366513563665Human1name
127268133CV1101024single nucleotide variantNM_000834.5(GRIN2B):c.3201C>T (p.Thr1067=)Intellectual disability, autosomal dominant 6 [RCV001440695]likely benign121356403713564037Human1name
127283170CV1101025single nucleotide variantNM_000834.5(GRIN2B):c.3126C>T (p.Phe1042=)Intellectual disability, autosomal dominant 6 [RCV001448333]likely benign121356411213564112Human1name
127287684CV1122464single nucleotide variantNM_000834.5(GRIN2B):c.4434T>C (p.Ser1478=)Intellectual disability, autosomal dominant 6 [RCV001450189]likely benign121356280413562804Human1name
127305216CV1122465single nucleotide variantNM_000834.5(GRIN2B):c.4149G>A (p.Thr1383=)Intellectual disability, autosomal dominant 6 [RCV001462433]likely benign121356308913563089Human1name
127328707CV1122466single nucleotide variantNM_000834.5(GRIN2B):c.4008C>T (p.Tyr1336=)Intellectual disability, autosomal dominant 6 [RCV001469720]likely benign121356323013563230Human1name
127331497CV1122467single nucleotide variantNM_000834.5(GRIN2B):c.3948C>T (p.Ala1316=)Inborn genetic diseases [RCV002359055]|Intellectual disability, autosomal dominant 6 [RCV001471626]likely benign121356329013563290Human2name
127306632CV1122468single nucleotide variantNM_000834.5(GRIN2B):c.3753G>T (p.Leu1251=)Inborn genetic diseases [RCV002368393]|Intellectual disability, autosomal dominant 6 [RCV001455584]|not provided [RCV001555619]likely benign121356348513563485Human2name
127332106CV1122469single nucleotide variantNM_000834.5(GRIN2B):c.3681G>A (p.Thr1227=)Intellectual disability, autosomal dominant 6 [RCV001472014]likely benign121356355713563557Human1name
127314999CV1122470single nucleotide variantNM_000834.5(GRIN2B):c.3486T>C (p.Phe1162=)Intellectual disability, autosomal dominant 6 [RCV001465116]likely benign121356375213563752Human1name
127337684CV1122472single nucleotide variantNM_000834.5(GRIN2B):c.3234C>G (p.Ala1078=)Intellectual disability, autosomal dominant 6 [RCV001475798]likely benign121356400413564004Human1name
127336050CV1122473single nucleotide variantNM_000834.5(GRIN2B):c.3156C>T (p.His1052=)Intellectual disability, autosomal dominant 6 [RCV001474733]likely benign121356408213564082Human1name
127312013CV1122474single nucleotide variantNM_000834.5(GRIN2B):c.3090C>A (p.Ser1030=)Intellectual disability, autosomal dominant 6 [RCV001457048]likely benign121356414813564148Human1name
127312354CV1122485single nucleotide variantNM_000834.5(GRIN2B):c.920T>G (p.Met307Arg)Intellectual disability, autosomal dominant 6 [RCV001457124]likely benign121375340713753407Human1name
127295942CV1143333single nucleotide variantNM_000834.5(GRIN2B):c.4128G>A (p.Ser1376=)Intellectual disability, autosomal dominant 6 [RCV001497369]likely benign121356311013563110Human1name
127309125CV1143334single nucleotide variantNM_000834.5(GRIN2B):c.4104C>A (p.Gly1368=)Intellectual disability, autosomal dominant 6 [RCV001480762]likely benign121356313413563134Human1name
127294904CV1143335single nucleotide variantNM_000834.5(GRIN2B):c.3798G>A (p.Pro1266=)Intellectual disability, autosomal dominant 6 [RCV001497108]likely benign121356344013563440Human1name
127317756CV1143336single nucleotide variantNM_000834.5(GRIN2B):c.3702G>C (p.Ser1234=)Intellectual disability, autosomal dominant 6 [RCV001483251]likely benign121356353613563536Human1name
127320667CV1143337single nucleotide variantNM_000834.5(GRIN2B):c.3546G>C (p.Gly1182=)Intellectual disability, autosomal dominant 6 [RCV001504476]likely benign121356369213563692Human1name
127320499CV1156949single nucleotide variantNM_000834.5(GRIN2B):c.959G>C (p.Ser320Thr)Intellectual disability, autosomal dominant 6 [RCV001522668]benign121375336813753368Human1name
127295266CV1156950single nucleotide variantNM_000834.5(GRIN2B):c.619A>G (p.Met207Val)Intellectual disability, autosomal dominant 6 [RCV001512099]benign121375370813753708Human1name
127311628CV1156951single nucleotide variantNM_000834.5(GRIN2B):c.598G>C (p.Glu200Gln)Intellectual disability, autosomal dominant 6 [RCV001518680]benign121375372913753729Human1name
150415874CV1180965single nucleotide variantNM_000834.5(GRIN2B):c.991C>A (p.Gln331Lys)Inborn genetic diseases [RCV004039292]|Intellectual disability, autosomal dominant 6 [RCV002570682]|not provided [RCV001549336]likely benign|uncertain significance121375333613753336Human2name
150427023CV1187877single nucleotide variantNM_000834.5(GRIN2B):c.764C>T (p.Thr255Met)Intellectual disability, autosomal dominant 6 [RCV002569011]|not provided [RCV001560366]likely benign|uncertain significance121375356313753563Human1name
150413623CV1191372single nucleotide variantNM_000834.5(GRIN2B):c.811G>A (p.Ala271Thr)not provided [RCV001567259]uncertain significance121375351613753516Humanname
150421652CV1198340single nucleotide variantNM_000834.5(GRIN2B):c.3000C>T (p.Ile1000=)Intellectual disability, autosomal dominant 6 [RCV002072276]|not provided [RCV001578128]likely benign121356423813564238Human1name
150504150CV1212625single nucleotide variantNM_000834.5(GRIN2B):c.3588T>C (p.Pro1196=)Inborn genetic diseases [RCV002458550]|Intellectual disability, autosomal dominant 6 [RCV003771802]|not provided [RCV001595500]benign|likely benign121356365013563650Human2name
150453253CV1275405single nucleotide variantNM_000834.5(GRIN2B):c.718A>G (p.Ile240Val)Developmental and epileptic encephalopathy, 27 [RCV001706919]|Intellectual disability, autosomal dominant 6 [RCV003771861]|not specified [RCV004526140]uncertain significance121375360913753609Human2name
150528602CV1288400single nucleotide variantNM_000834.5(GRIN2B):c.337G>A (p.Asp113Asn)Intellectual disability, autosomal dominant 6 [RCV004804228]|not provided [RCV001726868]uncertain significance121386587213865872Human1name
150550355CV1300203single nucleotide variantNM_000834.5(GRIN2B):c.914C>T (p.Ser305Phe)not provided [RCV001765673]uncertain significance121375341313753413Humanname
150550218CV1302363single nucleotide variantNM_000834.5(GRIN2B):c.976G>A (p.Glu326Lys)not provided [RCV001752815]uncertain significance121375335113753351Humanname
8653744CV130319single nucleotide variantNM_000834.3(GRIN2B):c.943C>A (p.Pro315Thr)Lung cancer [RCV000110806]uncertain significance121375338413753384Humanname
151354099CV1327651single nucleotide variantNM_000834.5(GRIN2B):c.3195C>T (p.Thr1065=)not specified [RCV001817595]uncertain significance121356404313564043Humanname
8659694CV134649single nucleotide variantNM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=)Inborn genetic diseases [RCV002312130]|Intellectual disability, autosomal dominant 6 [RCV000460176]|Intellectual disability, autosomal dominant 6 [RCV000603304]|not provided [RCV001531146]|not specified [RCV000186633]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters121356374013563740Human2name
8659695CV134650single nucleotide variantNM_000834.5(GRIN2B):c.3534C>T (p.His1178=)Developmental and epileptic encephalopathy, 27 [RCV001701508]|Inborn genetic diseases [RCV002312131]|Intellectual disability, autosomal dominant 6 [RCV001517087]|Intellectual disability, autosomal dominant 6 [RCV001701754]|not provided [RCV000711874]|not specified [RCV000117197]benign|likely benign121356370413563704Human3name
151824136CV1358890single nucleotide variantNM_000834.5(GRIN2B):c.748A>T (p.Thr250Ser)Intellectual disability, autosomal dominant 6 [RCV001970671]uncertain significance121375357913753579Human1name
151831826CV1364738single nucleotide variantNM_000834.5(GRIN2B):c.4086C>T (p.His1362=)Intellectual disability, autosomal dominant 6 [RCV001985848]likely benign121356315213563152Human1name
8691263CV141223single nucleotide variantNM_000834.5(GRIN2B):c.3117C>T (p.Tyr1039=)Inborn genetic diseases [RCV002312884]|Intellectual disability, autosomal dominant 6 [RCV000655341]|not provided [RCV003390814]|not specified [RCV000125328]benign|likely benign121356412113564121Human2name
8691264CV141224single nucleotide variantNM_000834.5(GRIN2B):c.3807A>T (p.Pro1269=)GRIN2B-related disorder [RCV004530083]|Inborn genetic diseases [RCV002354316]|Intellectual disability, autosomal dominant 6 [RCV000558047]|not provided [RCV001311288]|not specified [RCV000125329]benign|likely benign|uncertain significance121356343113563431Human2name , alternate_id
151790609CV1414738single nucleotide variantNM_000834.5(GRIN2B):c.4035C>T (p.Gly1345=)Intellectual disability, autosomal dominant 6 [RCV001903217]benign|uncertain significance121356320313563203Human1name
151717871CV1420653single nucleotide variantNM_000834.5(GRIN2B):c.568A>G (p.Ile190Val)Intellectual disability, autosomal dominant 6 [RCV002027579]benign|uncertain significance121375375913753759Human1name
151830719CV1433592single nucleotide variantNM_000834.5(GRIN2B):c.425T>C (p.Met142Thr)Intellectual disability, autosomal dominant 6 [RCV001983783]benign|uncertain significance121375390213753902Human1name
151798129CV1487248single nucleotide variantNM_000834.5(GRIN2B):c.378C>G (p.Ile126Met)Intellectual disability, autosomal dominant 6 [RCV001917356]uncertain significance121386583113865831Human1name
152147505CV1528594single nucleotide variantNM_000834.5(GRIN2B):c.3525C>T (p.Asn1175=)Intellectual disability, autosomal dominant 6 [RCV002101708]likely benign121356371313563713Human1name
152143153CV1538357single nucleotide variantNM_000834.5(GRIN2B):c.3855G>A (p.Pro1285=)Intellectual disability, autosomal dominant 6 [RCV002219645]likely benign121356338313563383Human1name
152046234CV1539580single nucleotide variantNM_000834.5(GRIN2B):c.3516C>G (p.Pro1172=)Intellectual disability, autosomal dominant 6 [RCV002145110]likely benign121356372213563722Human1name
152065808CV1539833single nucleotide variantNM_000834.5(GRIN2B):c.3625C>A (p.Arg1209=)Intellectual disability, autosomal dominant 6 [RCV002147408]likely benign121356361313563613Human1name
152150654CV1559518single nucleotide variantNM_000834.5(GRIN2B):c.4230G>C (p.Thr1410=)Intellectual disability, autosomal dominant 6 [RCV002220760]likely benign121356300813563008Human1name
152138361CV1563517single nucleotide variantNM_000834.5(GRIN2B):c.3030C>G (p.Pro1010=)Intellectual disability, autosomal dominant 6 [RCV002200255]likely benign121356420813564208Human1name
152093531CV1570605single nucleotide variantNM_000834.5(GRIN2B):c.3750C>T (p.Asn1250=)Intellectual disability, autosomal dominant 6 [RCV002213053]likely benign121356348813563488Human1name
152037320CV1571994single nucleotide variantNM_000834.5(GRIN2B):c.3189C>T (p.Ile1063=)Intellectual disability, autosomal dominant 6 [RCV002205812]likely benign121356404913564049Human1name
152098852CV1578503single nucleotide variantNM_000834.5(GRIN2B):c.3159C>T (p.Asp1053=)Intellectual disability, autosomal dominant 6 [RCV002151554]likely benign121356407913564079Human1name
152096094CV1586799single nucleotide variantNM_000834.5(GRIN2B):c.3912C>T (p.Tyr1304=)Intellectual disability, autosomal dominant 6 [RCV002078368]likely benign121356332613563326Human1name
152088853CV1603309single nucleotide variantNM_000834.5(GRIN2B):c.3678C>A (p.Ser1226=)Intellectual disability, autosomal dominant 6 [RCV002077429]likely benign121356356013563560Human1name
152137187CV1608926single nucleotide variantNM_000834.5(GRIN2B):c.3906C>T (p.His1302=)Intellectual disability, autosomal dominant 6 [RCV002119862]likely benign121356333213563332Human1name
152080921CV1623160single nucleotide variantNM_000834.5(GRIN2B):c.3561C>T (p.His1187=)Intellectual disability, autosomal dominant 6 [RCV002170524]likely benign121356367713563677Human1name
152132615CV1630231single nucleotide variantNM_000834.5(GRIN2B):c.631G>A (p.Asp211Asn)Intellectual disability, autosomal dominant 6 [RCV002177001]likely benign121375369613753696Human1name
152150008CV1636066single nucleotide variantNM_000834.5(GRIN2B):c.3798G>T (p.Pro1266=)Intellectual disability, autosomal dominant 6 [RCV002102086]likely benign121356344013563440Human1name
152088753CV1638963single nucleotide variantNM_000834.5(GRIN2B):c.4038G>A (p.Glu1346=)Intellectual disability, autosomal dominant 6 [RCV002150309]likely benign121356320013563200Human1name
152028310CV1642739single nucleotide variantNM_000834.5(GRIN2B):c.4314G>A (p.Val1438=)Intellectual disability, autosomal dominant 6 [RCV002185793]likely benign121356292413562924Human1name
152114202CV1651113single nucleotide variantNM_000834.5(GRIN2B):c.3180C>T (p.Val1060=)Intellectual disability, autosomal dominant 6 [RCV002153446]likely benign121356405813564058Human1name
152058609CV1652052single nucleotide variantNM_000834.5(GRIN2B):c.3780G>C (p.Leu1260=)Intellectual disability, autosomal dominant 6 [RCV002190260]likely benign121356345813563458Human1name
152053268CV1659300single nucleotide variantNM_000834.5(GRIN2B):c.4071C>T (p.Pro1357=)Intellectual disability, autosomal dominant 6 [RCV002189669]likely benign121356316713563167Human1name
152099344CV1663951single nucleotide variantNM_000834.5(GRIN2B):c.998A>G (p.Asn333Ser)Intellectual disability, autosomal dominant 6 [RCV002078783]|not specified [RCV003987975]benign|uncertain significance121375332913753329Human1name
153304478CV1687093single nucleotide variantNM_000834.5(GRIN2B):c.3588T>A (p.Pro1196=)not provided [RCV002262381]likely benign121356365013563650Humanname
155741927CV1791191single nucleotide variantNM_000834.5(GRIN2B):c.4380A>G (p.Lys1460=)Inborn genetic diseases [RCV002333577]likely benign121356285813562858Human1name
155710870CV1795103single nucleotide variantNM_000834.5(GRIN2B):c.3252A>G (p.Gln1084=)Inborn genetic diseases [RCV002324898]likely benign121356398613563986Human1name
155671954CV1796603single nucleotide variantNM_000834.5(GRIN2B):c.3778C>T (p.Leu1260=)Inborn genetic diseases [RCV002351117]likely benign121356346013563460Human1name
155697432CV1820452single nucleotide variantNM_000834.5(GRIN2B):c.817T>G (p.Phe273Val)Inborn genetic diseases [RCV002427812]uncertain significance121375351013753510Human1name
155977230CV1886133single nucleotide variantNM_000834.5(GRIN2B):c.4236G>A (p.Ala1412=)Intellectual disability, autosomal dominant 6 [RCV003075475]likely benign121356300213563002Human1name
156195944CV1889623single nucleotide variantNM_000834.5(GRIN2B):c.877G>A (p.Val293Met)Intellectual disability, autosomal dominant 6 [RCV003084034]|not provided [RCV004765664]uncertain significance121375345013753450Human1name
156031522CV1893675single nucleotide variantNM_000834.5(GRIN2B):c.3309C>T (p.Asp1103=)Intellectual disability, autosomal dominant 6 [RCV003078125]likely benign121356392913563929Human1name
156139168CV1898413single nucleotide variantNM_000834.5(GRIN2B):c.4053C>T (p.Asn1351=)Intellectual disability, autosomal dominant 6 [RCV003082136]likely benign121356318513563185Human1name
156441908CV1941562single nucleotide variantNM_000834.5(GRIN2B):c.623C>T (p.Ser208Phe)Intellectual disability, autosomal dominant 6 [RCV003112242]|not provided [RCV003738362]likely benign|uncertain significance121375370413753704Human1name
156276836CV1954729single nucleotide variantNM_000834.5(GRIN2B):c.3873G>A (p.Gln1291=)Intellectual disability, autosomal dominant 6 [RCV002577352]likely benign121356336513563365Human1name
156324251CV1972568single nucleotide variantNM_000834.5(GRIN2B):c.992A>C (p.Gln331Pro)Inborn genetic diseases [RCV002600428]|Intellectual disability, autosomal dominant 6 [RCV002587568]uncertain significance121375333513753335Human2name
156419522CV1977317single nucleotide variantNM_000834.5(GRIN2B):c.3201C>A (p.Thr1067=)GRIN2B-related disorder [RCV004545349]|Intellectual disability, autosomal dominant 6 [RCV002612759]likely benign121356403713564037Human1name , alternate_id
156350563CV1978312single nucleotide variantNM_000834.5(GRIN2B):c.973C>T (p.His325Tyr)Intellectual disability, autosomal dominant 6 [RCV002601793]uncertain significance121375335413753354Human1name
156396249CV1985175single nucleotide variantNM_000834.5(GRIN2B):c.3717C>T (p.Cys1239=)Intellectual disability, autosomal dominant 6 [RCV002635508]likely benign121356352113563521Human1name
156245083CV1992729single nucleotide variantNM_000834.5(GRIN2B):c.3978C>T (p.Asp1326=)Intellectual disability, autosomal dominant 6 [RCV002627265]likely benign121356326013563260Human1name
156116189CV2016949single nucleotide variantNM_000834.5(GRIN2B):c.3459C>T (p.Asp1153=)Intellectual disability, autosomal dominant 6 [RCV002740022]likely benign121356377913563779Human1name
10396114CV202656single nucleotide variantNM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=)GRIN2B-related disorder [RCV004539740]|Inborn genetic diseases [RCV002314721]|Intellectual disability, autosomal dominant 6 [RCV000467185]|not provided [RCV001721198]|not specified [RCV000187707]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance121356349113563491Human2name , alternate_id
10396105CV202658single nucleotide variantNM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=)GRIN2B-related disorder [RCV004734831]|Inborn genetic diseases [RCV002311272]|Intellectual disability, autosomal dominant 6 [RCV001081012]|not provided [RCV000711875]|not specified [RCV000187690]benign|likely benign|uncertain significance121356368613563686Human2name , alternate_id
10397606CV202666deletionNM_000834.5(GRIN2B):c.2589del (p.Ile864fs)Intellectual disability, autosomal dominant 6 [RCV001172359]|not provided [RCV000187708]pathogenic|likely pathogenic|uncertain significance121356703413567034Human1name
10396103CV202674single nucleotide variantNM_000834.5(GRIN2B):c.812C>A (p.Ala271Glu)Intellectual disability, autosomal dominant 6 [RCV001852458]|not provided [RCV001721197]benign|likely benign|uncertain significance121375351513753515Human1name
10397598CV202675single nucleotide variantNM_000834.5(GRIN2B):c.448A>G (p.Ile150Val)Intellectual disability, autosomal dominant 6 [RCV001172347]|Intellectual disability, autosomal dominant 6 [RCV001852459]likely pathogenic|uncertain significance121375387913753879Human1name
156028604CV2052111single nucleotide variantNM_000834.5(GRIN2B):c.4155C>T (p.Asn1385=)Intellectual disability, autosomal dominant 6 [RCV002820962]likely benign121356308313563083Human1name
155940264CV2054902single nucleotide variantNM_000834.5(GRIN2B):c.3723G>T (p.Arg1241=)Intellectual disability, autosomal dominant 6 [RCV002815646]likely benign121356351513563515Human1name
10403878CV207944single nucleotide variantNM_000834.5(GRIN2B):c.4077C>T (p.Ala1359=)Intellectual disability, autosomal dominant 6 [RCV002517080]|not specified [RCV000193623]likely benign|conflicting interpretations of pathogenicity|uncertain significance121356316113563161Human1name
156072821CV2102033single nucleotide variantNM_000834.5(GRIN2B):c.3759C>T (p.Asp1253=)Intellectual disability, autosomal dominant 6 [RCV002912439]|not provided [RCV003389911]likely benign121356347913563479Human1name
156039265CV2121334single nucleotide variantNM_000834.5(GRIN2B):c.4209C>G (p.Ser1403=)Intellectual disability, autosomal dominant 6 [RCV002923848]likely benign121356302913563029Human1name
155952934CV2123629single nucleotide variantNM_000834.5(GRIN2B):c.511A>G (p.Ile171Val)Intellectual disability, autosomal dominant 6 [RCV002971963]benign121375381613753816Human1name
156114460CV2136350single nucleotide variantNM_000834.5(GRIN2B):c.4107C>G (p.Gly1369=)Intellectual disability, autosomal dominant 6 [RCV003002728]likely benign121356313113563131Human1name
156115135CV2136384single nucleotide variantNM_000834.5(GRIN2B):c.313C>G (p.Gln105Glu)Intellectual disability, autosomal dominant 6 [RCV003002754]benign|uncertain significance121386589613865896Human1name
156312475CV2143765single nucleotide variantNM_000834.5(GRIN2B):c.4158T>C (p.Pro1386=)Intellectual disability, autosomal dominant 6 [RCV003011194]likely benign121356308013563080Human1name
156166905CV2169674single nucleotide variantNM_000834.5(GRIN2B):c.3495C>T (p.Asp1165=)Intellectual disability, autosomal dominant 6 [RCV003023394]likely benign121356374313563743Human1name
156111081CV2177370single nucleotide variantNM_000834.5(GRIN2B):c.3120C>T (p.Gly1040=)Intellectual disability, autosomal dominant 6 [RCV003055093]likely benign121356411813564118Human1name
156371298CV2188716single nucleotide variantNM_000834.5(GRIN2B):c.3714G>A (p.Ala1238=)Intellectual disability, autosomal dominant 6 [RCV003066306]likely benign121356352413563524Human1name
156264764CV2312131single nucleotide variantNM_000834.5(GRIN2B):c.845A>G (p.Tyr282Cys)GRIN2B-related disorder [RCV004538871]|Inborn genetic diseases [RCV002920729]likely pathogenic|uncertain significance121375348213753482Human2name , alternate_id
11089932CV231845single nucleotide variantNM_000834.5(GRIN2B):c.471G>C (p.Met157Ile)not provided [RCV000215426]uncertain significance121375385613753856Humanname
156439957CV2401641single nucleotide variantNM_000834.5(GRIN2B):c.512T>A (p.Ile171Asn)not provided [RCV003109929]uncertain significance121375381513753815Humanname
156435203CV2403450insertionNM_000834.5(GRIN2B):c.23_24insC (p.Ser9fs)Autism spectrum disorder [RCV003127386]pathogenic121386618513866186Human2name
243060022CV2412802single nucleotide variantNM_000834.5(GRIN2B):c.805G>C (p.Val269Leu)not provided [RCV003135471]uncertain significance121375352213753522Humanname
243052661CV2412804single nucleotide variantNM_000834.5(GRIN2B):c.544T>G (p.Phe182Val)not provided [RCV003131075]uncertain significance121375378313753783Humanname
243052673CV2412808single nucleotide variantNM_000834.5(GRIN2B):c.857A>G (p.Asp286Gly)not provided [RCV003131077]uncertain significance121375347013753470Humanname
11346527CV241528single nucleotide variantNM_000834.5(GRIN2B):c.3174C>T (p.Ser1058=)Inborn genetic diseases [RCV002315688]|Intellectual disability, autosomal dominant 6 [RCV000228806]|not provided [RCV001705247]likely pathogenic|benign|likely benign|uncertain significance121356406413564064Human2name
243052296CV2417818deletionNM_000834.5(GRIN2B):c.2591del (p.Ile864fs)Intellectual disability, autosomal dominant 6 [RCV003152882]likely pathogenic121356703213567032Human1name
11523484CV244771single nucleotide variantNM_000834.5(GRIN2B):c.4413G>A (p.Gly1471=)Intellectual disability, autosomal dominant 6 [RCV001480366]|not specified [RCV000236015]likely benign121356282513562825Human1name
11523975CV244773single nucleotide variantNM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=)Inborn genetic diseases [RCV002317775]|Intellectual disability, autosomal dominant 6 [RCV000866000]|not provided [RCV003736669]|not specified [RCV000236839]benign|likely benign|conflicting interpretations of pathogenicity121356292713562927Human2name
11523803CV244777single nucleotide variantNM_000834.5(GRIN2B):c.4113C>T (p.Tyr1371=)Inborn genetic diseases [RCV002313964]|Intellectual disability, autosomal dominant 6 [RCV001082751]|not provided [RCV000711877]|not specified [RCV000236501]benign|likely benign|uncertain significance121356312513563125Human2name
11523411CV244778single nucleotide variantNM_000834.5(GRIN2B):c.3945C>T (p.Ala1315=)Inborn genetic diseases [RCV002317777]|Intellectual disability, autosomal dominant 6 [RCV000876458]|not provided [RCV001705311]likely benign121356329313563293Human2name
11523156CV244782single nucleotide variantNM_000834.5(GRIN2B):c.3660C>G (p.Ser1220=)Intellectual disability, autosomal dominant 6 [RCV000908327]|not specified [RCV000235443]benign|likely benign121356357813563578Human1name
11523800CV244784single nucleotide variantNM_000834.5(GRIN2B):c.3549G>A (p.Thr1183=)GRIN2B-related disorder [RCV004725123]|Intellectual disability, autosomal dominant 6 [RCV001451933]|not provided [RCV000236468]benign|likely benign121356368913563689Human1name , alternate_id
11523370CV244786single nucleotide variantNM_000834.5(GRIN2B):c.3456C>A (p.Thr1152=)Intellectual disability, autosomal dominant 6 [RCV002519823]|not specified [RCV000235737]likely benign121356378213563782Human1name
11523455CV244788single nucleotide variantNM_000834.5(GRIN2B):c.3339G>A (p.Pro1113=)Intellectual disability, autosomal dominant 6 [RCV001409075]|not provided [RCV000544732]likely benign121356389913563899Human1name
11523157CV244789single nucleotide variantNM_000834.5(GRIN2B):c.3195C>A (p.Thr1065=)not specified [RCV000235444]likely benign121356404313564043Humanname
11523319CV244812single nucleotide variantNM_000834.5(GRIN2B):c.377T>C (p.Ile126Thr)not specified [RCV000235741]uncertain significance121386583213865832Humanname
11523326CV244814single nucleotide variantNM_000834.5(GRIN2B):c.325G>T (p.Ala109Ser)Intellectual disability, autosomal dominant 6 [RCV001033993]|not provided [RCV000235573]likely benign|uncertain significance121386588413865884Human1name
329350555CV2477382single nucleotide variantNM_000834.5(GRIN2B):c.392C>T (p.Ser131Phe)Inborn genetic diseases [RCV004634239]|Intellectual disability, autosomal dominant 6 [RCV003779797]|not provided [RCV003221707]likely benign|uncertain significance121386581713865817Human2name
401742061CV2738891single nucleotide variantNM_000834.5(GRIN2B):c.983G>T (p.Arg328Ile)not provided [RCV003318285]uncertain significance121375334413753344Humanname
401796879CV2739854single nucleotide variantNM_000834.5(GRIN2B):c.969C>A (p.Asn323Lys)not provided [RCV003319815]uncertain significance121375335813753358Humanname
401872038CV2749624single nucleotide variantNM_000834.5(GRIN2B):c.3834C>A (p.Thr1278=)not provided [RCV003332752]uncertain significance121356340413563404Humanname
401905982CV2810224single nucleotide variantNM_000834.5(GRIN2B):c.3099C>T (p.Ser1033=)not provided [RCV003396249]likely benign121356413913564139Humanname
404979668CV2850198single nucleotide variantNM_000834.5(GRIN2B):c.3372G>A (p.Arg1124=)not provided [RCV003487885]uncertain significance121356386613563866Humanname
402476443CV2850199single nucleotide variantNM_000834.5(GRIN2B):c.4299C>T (p.Ala1433=)Intellectual disability, autosomal dominant 6 [RCV003779246]|not provided [RCV003487886]likely benign|uncertain significance121356293913562939Human1name
405022155CV3081805single nucleotide variantNM_000834.5(GRIN2B):c.370C>G (p.Leu124Val)Intellectual disability, autosomal dominant 6 [RCV003785411]benign|uncertain significance121386583913865839Human1name
405026019CV3082137single nucleotide variantNM_000834.5(GRIN2B):c.3951G>C (p.Leu1317=)Intellectual disability, autosomal dominant 6 [RCV003785745]likely benign121356328713563287Human1name
405008624CV3083199single nucleotide variantNM_000834.5(GRIN2B):c.4254G>A (p.Arg1418=)Intellectual disability, autosomal dominant 6 [RCV003784146]likely benign121356298413562984Human1name
405051021CV3084644single nucleotide variantNM_000834.5(GRIN2B):c.3393C>T (p.Asp1131=)Intellectual disability, autosomal dominant 6 [RCV003798051]likely benign121356384513563845Human1name
404997344CV3085473single nucleotide variantNM_000834.5(GRIN2B):c.511A>T (p.Ile171Phe)Intellectual disability, autosomal dominant 6 [RCV003783004]likely benign|uncertain significance121375381613753816Human1name
405003191CV3086473single nucleotide variantNM_000834.5(GRIN2B):c.3177T>C (p.Asp1059=)Intellectual disability, autosomal dominant 6 [RCV003783687]likely benign121356406113564061Human1name
402516539CV3087732single nucleotide variantNM_000834.5(GRIN2B):c.4140C>T (p.Asp1380=)Intellectual disability, autosomal dominant 6 [RCV003790083]likely benign121356309813563098Human1name
402512563CV3089369single nucleotide variantNM_000834.5(GRIN2B):c.731C>T (p.Ala244Val)Intellectual disability, autosomal dominant 6 [RCV003780401]uncertain significance121375359613753596Human1name
402506200CV3090369single nucleotide variantNM_000834.5(GRIN2B):c.3075C>T (p.Ile1025=)Intellectual disability, autosomal dominant 6 [RCV003789138]likely benign121356416313564163Human1name
402499648CV3092974single nucleotide variantNM_000834.5(GRIN2B):c.3564C>T (p.Gly1188=)Intellectual disability, autosomal dominant 6 [RCV003788438]likely benign121356367413563674Human1name
405015787CV3093943single nucleotide variantNM_000834.5(GRIN2B):c.418T>A (p.Ser140Thr)Intellectual disability, autosomal dominant 6 [RCV003784793]uncertain significance121375390913753909Human1name
405016140CV3093980single nucleotide variantNM_000834.5(GRIN2B):c.3522C>A (p.Thr1174=)Intellectual disability, autosomal dominant 6 [RCV003784830]likely benign121356371613563716Human1name
405017455CV3094114single nucleotide variantNM_000834.5(GRIN2B):c.3963C>T (p.Ser1321=)Intellectual disability, autosomal dominant 6 [RCV003784964]likely benign121356327513563275Human1name
405018716CV3094416single nucleotide variantNM_000834.5(GRIN2B):c.3883C>A (p.Arg1295=)Intellectual disability, autosomal dominant 6 [RCV003785106]likely benign121356335513563355Human1name
405003003CV3095639single nucleotide variantNM_000834.5(GRIN2B):c.3114G>C (p.Leu1038=)Intellectual disability, autosomal dominant 6 [RCV003793944]likely benign121356412413564124Human1name
405008033CV3096231single nucleotide variantNM_000834.5(GRIN2B):c.362C>T (p.Thr121Ile)Intellectual disability, autosomal dominant 6 [RCV003794381]benign121386584713865847Human1name
404978719CV3099094single nucleotide variantNM_000834.5(GRIN2B):c.3006G>A (p.Gly1002=)Intellectual disability, autosomal dominant 6 [RCV003791074]likely benign121356423213564232Human1name
404979871CV3099493single nucleotide variantNM_000834.5(GRIN2B):c.533G>A (p.Gly178Asp)Intellectual disability, autosomal dominant 6 [RCV003791321]likely benign|uncertain significance121375379413753794Human1name
404982874CV3100153single nucleotide variantNM_000834.5(GRIN2B):c.3231C>A (p.Ala1077=)Intellectual disability, autosomal dominant 6 [RCV003791820]likely benign121356400713564007Human1name
405074495CV3100199single nucleotide variantNM_000834.5(GRIN2B):c.3318G>A (p.Glu1106=)Intellectual disability, autosomal dominant 6 [RCV003799752]likely benign121356392013563920Human1name
405019182CV3100931single nucleotide variantNM_000834.5(GRIN2B):c.862G>C (p.Gly288Arg)Intellectual disability, autosomal dominant 6 [RCV003805679]uncertain significance121375346513753465Human1name
405176108CV3101128single nucleotide variantNM_000834.5(GRIN2B):c.478A>T (p.Ile160Phe)Intellectual disability, autosomal dominant 6 [RCV003803515]uncertain significance121375384913753849Human1name
405065312CV3103049single nucleotide variantNM_000834.5(GRIN2B):c.3096C>T (p.His1032=)Intellectual disability, autosomal dominant 6 [RCV003799040]likely benign121356414213564142Human1name
405040076CV3103335single nucleotide variantNM_000834.5(GRIN2B):c.4305T>C (p.His1435=)Intellectual disability, autosomal dominant 6 [RCV003797213]likely benign121356293313562933Human1name
405068793CV3103555single nucleotide variantNM_000834.5(GRIN2B):c.4326C>T (p.Phe1442=)Intellectual disability, autosomal dominant 6 [RCV003799385]likely benign121356291213562912Human1name
405171413CV3104382single nucleotide variantNM_000834.5(GRIN2B):c.4141C>A (p.Arg1381=)Intellectual disability, autosomal dominant 6 [RCV003803059]likely benign121356309713563097Human1name
405034396CV3106055single nucleotide variantNM_000834.5(GRIN2B):c.3546G>A (p.Gly1182=)Intellectual disability, autosomal dominant 6 [RCV003796745]likely benign121356369213563692Human1name
405080612CV3107333single nucleotide variantNM_000834.5(GRIN2B):c.3255T>C (p.Tyr1085=)Intellectual disability, autosomal dominant 6 [RCV003800203]likely benign121356398313563983Human1name
405110013CV3110546single nucleotide variantNM_000834.5(GRIN2B):c.397A>G (p.Ile133Val)Intellectual disability, autosomal dominant 6 [RCV003813449]uncertain significance121386581213865812Human1name
405154873CV3111260single nucleotide variantNM_000834.5(GRIN2B):c.544T>C (p.Phe182Leu)Intellectual disability, autosomal dominant 6 [RCV003801716]likely benign|uncertain significance121375378313753783Human1name
405071800CV3111433single nucleotide variantNM_000834.5(GRIN2B):c.3630C>T (p.Ser1210=)Intellectual disability, autosomal dominant 6 [RCV003809772]likely benign121356360813563608Human1name
405071985CV3111446single nucleotide variantNM_000834.5(GRIN2B):c.856G>C (p.Asp286His)Intellectual disability, autosomal dominant 6 [RCV003809785]benign121375347113753471Human1name
405105204CV3113182single nucleotide variantNM_000834.5(GRIN2B):c.4023G>A (p.Glu1341=)Intellectual disability, autosomal dominant 6 [RCV003812473]likely benign121356321513563215Human1name
405106664CV3113433single nucleotide variantNM_000834.5(GRIN2B):c.4329G>A (p.Gln1443=)Intellectual disability, autosomal dominant 6 [RCV003812725]likely benign121356290913562909Human1name
405081599CV3113473single nucleotide variantNM_000834.5(GRIN2B):c.476A>G (p.Asn159Ser)Intellectual disability, autosomal dominant 6 [RCV003810490]uncertain significance121375385113753851Human1name
405081690CV3113480single nucleotide variantNM_000834.5(GRIN2B):c.689T>C (p.Leu230Pro)Intellectual disability, autosomal dominant 6 [RCV003810497]uncertain significance121375363813753638Human1name
405013479CV3114256single nucleotide variantNM_000834.5(GRIN2B):c.3970C>T (p.Leu1324=)Intellectual disability, autosomal dominant 6 [RCV003805110]likely benign121356326813563268Human1name
11610666CV316409single nucleotide variantNM_000834.5(GRIN2B):c.4215C>T (p.Phe1405=)Intellectual disability, autosomal dominant 6 [RCV001396698]|not provided [RCV004705240]likely benign|uncertain significance121356302313563023Human1name
405291127CV3222085single nucleotide variantNM_000834.5(GRIN2B):c.694T>C (p.Cys232Arg)Intellectual disability, autosomal dominant 6 [RCV003984904]uncertain significance121375363313753633Human1name
405706842CV3225297deletionNM_000834.5(GRIN2B):c.2823del (p.Phe941fs)Intellectual disability, autosomal dominant 6 [RCV003990351]likely pathogenic121356441513564415Human1name
11606714CV323834single nucleotide variantNM_000834.5(GRIN2B):c.3837T>G (p.Thr1279=)Inborn genetic diseases [RCV002317830]|Intellectual disability, autosomal dominant 6 [RCV001080276]|not provided [RCV000477584]benign|likely benign|uncertain significance121356340113563401Human2name
11611133CV323836single nucleotide variantNM_000834.5(GRIN2B):c.3825C>T (p.Asn1275=)Intellectual disability, autosomal dominant 6 [RCV003783553]likely benign|uncertain significance121356341313563413Human1name
11615876CV329920single nucleotide variantNM_000834.5(GRIN2B):c.4230G>A (p.Thr1410=)Intellectual disability, autosomal dominant 6 [RCV002056280]benign|uncertain significance121356300813563008Human1name
405853733CV3395164single nucleotide variantNM_000834.5(GRIN2B):c.509C>T (p.Ser170Phe)Intellectual disability, autosomal dominant 6 [RCV004555306]likely pathogenic121375381813753818Human1name
407427711CV3412010duplicationNM_000834.5(GRIN2B):c.98_99dup (p.Ser34fs)not provided [RCV004592181]pathogenic121386610913866110Humanname
407427869CV3412167single nucleotide variantNM_000834.5(GRIN2B):c.980A>G (p.Lys327Arg)not provided [RCV004592338]uncertain significance121375334713753347Humanname
408368979CV3502710single nucleotide variantNM_000834.5(GRIN2B):c.641C>T (p.Ser214Phe)not provided [RCV004723831]uncertain significance121375368613753686Humanname
408385440CV3520136single nucleotide variantNM_000834.5(GRIN2B):c.333C>G (p.Ile111Met)not provided [RCV004759957]uncertain significance121386587613865876Humanname
408384221CV3526890single nucleotide variantNM_000834.5(GRIN2B):c.4335C>T (p.Asp1445=)not provided [RCV004772203]uncertain significance121356290313562903Humanname
596920858CV3534339single nucleotide variantNM_000834.5(GRIN2B):c.565A>G (p.Thr189Ala)not specified [RCV004783558]uncertain significance121375376213753762Humanname
596926945CV3536403deletionNM_000834.5(GRIN2B):c.1147del (p.Ser383fs)GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder [RCV004789811]pathogenic121361663613616636Human1name
596944332CV3543145deletionNM_000834.5(GRIN2B):c.1577del (p.Ser526fs)Developmental and epileptic encephalopathy, 27 [RCV004799017]pathogenic121361519113615191Human1name
596946571CV3548395single nucleotide variantNM_000834.5(GRIN2B):c.3813G>A (p.Ala1271=)not provided [RCV004810221]likely benign121356342513563425Humanname
12841902CV372131single nucleotide variantNM_000834.5(GRIN2B):c.4179C>T (p.Asp1393=)Intellectual disability, autosomal dominant 6 [RCV002061404]|not specified [RCV000433414]likely benign121356305913563059Human1name
12842225CV372852single nucleotide variantNM_000834.5(GRIN2B):c.4410T>C (p.Asn1470=)Inborn genetic diseases [RCV004629215]|Intellectual disability, autosomal dominant 6 [RCV001505820]|not provided [RCV000952037]likely benign121356282813562828Human2name
12847486CV372856single nucleotide variantNM_000834.5(GRIN2B):c.4287G>A (p.Pro1429=)Intellectual disability, autosomal dominant 6 [RCV002062312]|not provided [RCV000865237]likely benign121356295113562951Human1name
12842521CV374861single nucleotide variantNM_000834.5(GRIN2B):c.4014C>T (p.His1338=)Intellectual disability, autosomal dominant 6 [RCV000871894]|not specified [RCV000434572]likely benign121356322413563224Human1name
12835945CV374866single nucleotide variantNM_000834.5(GRIN2B):c.3751C>T (p.Leu1251=)Intellectual disability, autosomal dominant 6 [RCV001470749]|not specified [RCV000422556]likely benign121356348713563487Human1name
12842210CV374876single nucleotide variantNM_000834.5(GRIN2B):c.812C>T (p.Ala271Val)GRIN2B-related disorder [RCV004530536]|Inborn genetic diseases [RCV002318388]|Intellectual disability, autosomal dominant 6 [RCV001398757]|not provided [RCV001712192]benign|likely benign121375351513753515Human2name , alternate_id
597857522CV3864681single nucleotide variantNM_000834.5(GRIN2B):c.4239G>T (p.Gly1413=)Intellectual disability, autosomal dominant 6 [RCV005213737]likely benign121356299913562999Human1name
597870121CV3866250single nucleotide variantNM_000834.5(GRIN2B):c.4416T>C (p.His1472=)Intellectual disability, autosomal dominant 6 [RCV005215591]likely benign121356282213562822Human1name
597868538CV3869373single nucleotide variantNM_000834.5(GRIN2B):c.3822A>T (p.Ser1274=)Intellectual disability, autosomal dominant 6 [RCV005215303]likely benign121356341613563416Human1name
597840326CV3873497single nucleotide variantNM_000834.5(GRIN2B):c.3768G>A (p.Glu1256=)Intellectual disability, autosomal dominant 6 [RCV005226324]likely benign121356347013563470Human1name
597927935CV3874198single nucleotide variantNM_000834.5(GRIN2B):c.930G>T (p.Glu310Asp)Intellectual disability, autosomal dominant 6 [RCV005224471]uncertain significance121375339713753397Human1name
597921836CV3875553single nucleotide variantNM_000834.5(GRIN2B):c.4446T>C (p.Ser1482=)Intellectual disability, autosomal dominant 6 [RCV005223640]likely benign121356279213562792Human1name
597900054CV3876267single nucleotide variantNM_000834.5(GRIN2B):c.3819G>T (p.Thr1273=)Intellectual disability, autosomal dominant 6 [RCV005220157]likely benign121356341913563419Human1name
597900867CV3876572single nucleotide variantNM_000834.5(GRIN2B):c.4050C>T (p.Ala1350=)Intellectual disability, autosomal dominant 6 [RCV005220270]likely benign121356318813563188Human1name
597851977CV3877154single nucleotide variantNM_000834.5(GRIN2B):c.3378G>A (p.Lys1126=)Intellectual disability, autosomal dominant 6 [RCV005228383]likely benign121356386013563860Human1name
597842878CV3878372single nucleotide variantNM_000834.5(GRIN2B):c.3840G>A (p.Lys1280=)Intellectual disability, autosomal dominant 6 [RCV005226862]likely benign121356339813563398Human1name
597834482CV3878676single nucleotide variantNM_000834.5(GRIN2B):c.3543C>T (p.His1181=)Intellectual disability, autosomal dominant 6 [RCV005225046]likely benign121356369513563695Human1name
598124948CV3883746single nucleotide variantNM_000834.5(GRIN2B):c.758G>A (p.Gly253Asp)not provided [RCV005236101]uncertain significance121375356913753569Humanname
598125415CV3883987single nucleotide variantNM_000834.5(GRIN2B):c.698C>T (p.Thr233Ile)not provided [RCV005236342]uncertain significance121375362913753629Humanname
598123212CV3890246single nucleotide variantNM_000834.5(GRIN2B):c.575A>G (p.Asn192Ser)not provided [RCV005250765]uncertain significance121375375213753752Humanname
598202473CV3892828single nucleotide variantNM_000834.5(GRIN2B):c.695G>C (p.Cys232Ser)not provided [RCV005255158]uncertain significance121375363213753632Humanname
598233483CV3893696single nucleotide variantNM_000834.5(GRIN2B):c.768G>T (p.Trp256Cys)not provided [RCV005256429]uncertain significance121375355913753559Humanname
12885010CV398876single nucleotide variantNM_000834.5(GRIN2B):c.542A>G (p.Asp181Gly)Intellectual disability, autosomal dominant 6 [RCV000464545]uncertain significance121375378513753785Human1name
12888882CV399032single nucleotide variantNM_000834.5(GRIN2B):c.674G>A (p.Ser225Asn)Intellectual disability, autosomal dominant 6 [RCV000471767]uncertain significance121375365313753653Human1name
12890222CV399345single nucleotide variantNM_000834.5(GRIN2B):c.514G>A (p.Val172Ile)Intellectual disability, autosomal dominant 6 [RCV000474212]|not provided [RCV001591098]likely benign|uncertain significance121375381313753813Human1name
12884518CV399587single nucleotide variantNM_000834.5(GRIN2B):c.3957G>A (p.Pro1319=)GRIN2B-related disorder [RCV004541510]|Intellectual disability, autosomal dominant 6 [RCV000463591]|not provided [RCV001675910]|not specified [RCV005239057]benign|likely benign121356328113563281Human1name , alternate_id
12885182CV399593single nucleotide variantNM_000834.5(GRIN2B):c.3807A>G (p.Pro1269=)Inborn genetic diseases [RCV002356754]|Intellectual disability, autosomal dominant 6 [RCV001503624]likely benign121356343113563431Human2name
616938619CV4015078single nucleotide variantNM_000834.5(GRIN2B):c.677C>G (p.Pro226Arg)Intellectual disability, autosomal dominant 6 [RCV005412095]uncertain significance121375365013753650Human1name
617150612CV4018916single nucleotide variantNM_000834.5(GRIN2B):c.637G>C (p.Asp213His)not provided [RCV005423324]uncertain significance121375369013753690Humanname
12906362CV415326single nucleotide variantNM_000834.5(GRIN2B):c.935G>A (p.Ser312Asn)Inborn genetic diseases [RCV004629223]|not provided [RCV000489124]uncertain significance121375339213753392Human1name
12907161CV415327single nucleotide variantNM_000834.5(GRIN2B):c.841T>A (p.Ser281Thr)Intellectual disability, autosomal dominant 6 [RCV005222966]|not provided [RCV000490109]uncertain significance121375348613753486Human1name
12912793CV421912single nucleotide variantNM_000834.5(GRIN2B):c.679A>G (p.Ile227Val)Intellectual disability, autosomal dominant 6 [RCV001085323]|not provided [RCV000493024]benign|conflicting interpretations of pathogenicity|uncertain significance121375364813753648Human1name
13211741CV425961single nucleotide variantNM_000834.5(GRIN2B):c.730G>T (p.Ala244Ser)not provided [RCV000497849]uncertain significance121375359713753597Humanname
13216069CV429408single nucleotide variantNM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=)Intellectual disability, autosomal dominant 6 [RCV000655340]|not provided [RCV000761818]|not specified [RCV000503279]likely benign|conflicting interpretations of pathogenicity|uncertain significance121356325713563257Human1name
13214509CV429409single nucleotide variantNM_000834.5(GRIN2B):c.3510A>T (p.Gly1170=)not specified [RCV000501354]uncertain significance121356372813563728Humanname
13476123CV444951deletionNM_000834.5(GRIN2B):c.2039del (p.Pro680fs)not provided [RCV000520067]pathogenic121357193613571936Humanname
13488002CV462048single nucleotide variantNM_000834.5(GRIN2B):c.3306T>C (p.Phe1102=)Inborn genetic diseases [RCV002456268]|Intellectual disability, autosomal dominant 6 [RCV000532121]likely benign121356393213563932Human2name
13490378CV462312single nucleotide variantNM_000834.5(GRIN2B):c.3285G>A (p.Ser1095=)Intellectual disability, autosomal dominant 6 [RCV000555926]|not provided [RCV001091148]likely benign121356395313563953Human1name
13534506CV504002single nucleotide variantNM_000834.5(GRIN2B):c.4101C>T (p.Pro1367=)GRIN2B-related disorder [RCV004543419]|Intellectual disability, autosomal dominant 6 [RCV000872267]|not provided [RCV001712625]benign|likely benign121356313713563137Human1name , alternate_id
13525125CV504003single nucleotide variantNM_000834.5(GRIN2B):c.3339G>T (p.Pro1113=)Intellectual disability, autosomal dominant 6 [RCV001425601]|not specified [RCV000602732]likely benign121356389913563899Human1name
13536657CV504235single nucleotide variantNM_000834.5(GRIN2B):c.4107C>T (p.Gly1369=)Intellectual disability, autosomal dominant 6 [RCV001046983]|not specified [RCV000609315]benign|likely benign|uncertain significance121356313113563131Human1name
13540171CV504237single nucleotide variantNM_000834.5(GRIN2B):c.3819G>A (p.Thr1273=)Intellectual disability, autosomal dominant 6 [RCV001443845]|not provided [RCV002275072]|not specified [RCV000614325]likely benign121356341913563419Human1name
13526781CV504705single nucleotide variantNM_000834.5(GRIN2B):c.3966A>G (p.Val1322=)Inborn genetic diseases [RCV002377329]|Intellectual disability, autosomal dominant 6 [RCV002531700]|not specified [RCV000604600]likely benign121356327213563272Human2name
13530786CV504713single nucleotide variantNM_000834.5(GRIN2B):c.3714G>T (p.Ala1238=)Intellectual disability, autosomal dominant 6 [RCV002066505]|not specified [RCV000606250]likely benign121356352413563524Human1name
13611252CV514637single nucleotide variantNM_000834.5(GRIN2B):c.706G>T (p.Glu236Ter)Complex neurodevelopmental disorder [RCV001265383]|not provided [RCV000627369]pathogenic121375362113753621Human1name
13626779CV527015single nucleotide variantNM_000834.5(GRIN2B):c.4296G>A (p.Ser1432=)Intellectual disability, autosomal dominant 6 [RCV000655339]likely benign121356294213562942Human1name
13626762CV527234single nucleotide variantNM_000834.5(GRIN2B):c.3078C>T (p.Gly1026=)Intellectual disability, autosomal dominant 6 [RCV000655329]likely benign121356416013564160Human1name
13705878CV536834single nucleotide variantNM_000834.5(GRIN2B):c.466G>A (p.Val156Ile)GRIN2B-related disorder [RCV000844991]|Intellectual disability, autosomal dominant 6 [RCV001296560]|not provided [RCV000658428]uncertain significance|not provided121375386113753861Human1name , alternate_id
13803103CV567941single nucleotide variantNM_000834.5(GRIN2B):c.923T>C (p.Leu308Pro)Intellectual disability, autosomal dominant 6 [RCV000707216]uncertain significance121375340413753404Human1name
13830700CV579757single nucleotide variantNM_000834.5(GRIN2B):c.4269C>T (p.Ala1423=)Inborn genetic diseases [RCV002318293]|Intellectual disability, autosomal dominant 6 [RCV001474208]likely benign121356296913562969Human2name
13828408CV579770single nucleotide variantNM_000834.5(GRIN2B):c.3690G>A (p.Thr1230=)Inborn genetic diseases [RCV002312421]|Intellectual disability, autosomal dominant 6 [RCV001862016]likely benign|uncertain significance121356354813563548Human2name
13830702CV580039single nucleotide variantNM_000834.5(GRIN2B):c.3504C>T (p.Ser1168=)Inborn genetic diseases [RCV002318295]|Intellectual disability, autosomal dominant 6 [RCV003768160]likely benign121356373413563734Human2name
13830006CV580042single nucleotide variantNM_000834.5(GRIN2B):c.3009C>G (p.Leu1003=)Inborn genetic diseases [RCV002318796]|Intellectual disability, autosomal dominant 6 [RCV002533035]likely benign|uncertain significance121356422913564229Human2name
13830243CV580046single nucleotide variantNM_000834.5(GRIN2B):c.3006G>T (p.Gly1002=)Inborn genetic diseases [RCV002316859]likely benign121356423213564232Human1name
14395635CV611410deletionNM_000834.5(GRIN2B):c.2560del (p.Cys854fs)Intellectual disability, autosomal dominant 6 [RCV000760198]pathogenic121356706313567063Human1name
14744521CV641007single nucleotide variantNM_000834.5(GRIN2B):c.992A>G (p.Gln331Arg)Intellectual disability, autosomal dominant 6 [RCV000824167]|not specified [RCV002249533]benign|uncertain significance121375333513753335Human1name
14741920CV656124single nucleotide variantNM_000834.5(GRIN2B):c.3081C>A (p.Leu1027=)Intellectual disability, autosomal dominant 6 [RCV003768594]|not provided [RCV000841021]likely benign121356415713564157Human1name
15145524CV687937single nucleotide variantNM_000834.5(GRIN2B):c.4194C>T (p.Leu1398=)Intellectual disability, autosomal dominant 6 [RCV000866105]|not provided [RCV001585818]likely benign121356304413563044Human1name
15148554CV687938single nucleotide variantNM_000834.5(GRIN2B):c.4104C>T (p.Gly1368=)Intellectual disability, autosomal dominant 6 [RCV000866687]likely benign121356313413563134Human1name
15161582CV687939single nucleotide variantNM_000834.5(GRIN2B):c.3969C>T (p.Ser1323=)Intellectual disability, autosomal dominant 6 [RCV000869245]likely benign121356326913563269Human1name
15100805CV687941single nucleotide variantNM_000834.5(GRIN2B):c.3456C>T (p.Thr1152=)Intellectual disability, autosomal dominant 6 [RCV001484154]likely benign121356378213563782Human1name
15100632CV687942single nucleotide variantNM_000834.5(GRIN2B):c.3300G>A (p.Arg1100=)Intellectual disability, autosomal dominant 6 [RCV000870097]|not provided [RCV003392653]likely benign121356393813563938Human1name
15102384CV687943single nucleotide variantNM_000834.5(GRIN2B):c.3033C>T (p.Phe1011=)Intellectual disability, autosomal dominant 6 [RCV001454133]likely benign121356420513564205Human1name
15193674CV753258single nucleotide variantNM_000834.5(GRIN2B):c.3462C>T (p.Ile1154=)Inborn genetic diseases [RCV002460118]|Intellectual disability, autosomal dominant 6 [RCV003768803]likely benign121356377613563776Human2name
15142071CV753260single nucleotide variantNM_000834.5(GRIN2B):c.3174C>G (p.Ser1058=)Intellectual disability, autosomal dominant 6 [RCV001505404]likely benign121356406413564064Human1name
15195492CV753263single nucleotide variantNM_000834.5(GRIN2B):c.973C>G (p.His325Asp)not provided [RCV000911432]benign121375335413753354Humanname
15199848CV769022single nucleotide variantNM_000834.5(GRIN2B):c.4245G>A (p.Ser1415=)Intellectual disability, autosomal dominant 6 [RCV001446618]|not provided [RCV000935219]likely benign121356299313562993Human1name
15141658CV769025single nucleotide variantNM_000834.5(GRIN2B):c.3402G>A (p.Leu1134=)Intellectual disability, autosomal dominant 6 [RCV000943935]benign121356383613563836Human1name
15128606CV769026single nucleotide variantNM_000834.5(GRIN2B):c.3213G>A (p.Gly1071=)not provided [RCV000941744]likely benign121356402513564025Humanname
21074203CV796724single nucleotide variantNM_000834.5(GRIN2B):c.4341T>C (p.Cys1447=)Intellectual disability, autosomal dominant 6 [RCV003769335]|not provided [RCV000994853]likely benign|uncertain significance121356289713562897Human1name
25318402CV805733duplicationNM_000834.5(GRIN2B):c.2486dup (p.Met829fs)not provided [RCV001008593]likely pathogenic121356713613567137Humanname
26897898CV822064single nucleotide variantNM_000834.5(GRIN2B):c.871G>A (p.Ala291Thr)Intellectual disability, autosomal dominant 6 [RCV001034351]benign121375345613753456Human1name
8627233CV82377single nucleotide variantNM_000834.5(GRIN2B):c.3627G>A (p.Arg1209=)Intellectual disability, autosomal dominant 6 [RCV002193616]likely benign|not provided121356361113563611Human1name
26913667CV839715single nucleotide variantNM_000834.5(GRIN2B):c.958A>G (p.Ser320Gly)Intellectual disability, autosomal dominant 6 [RCV001040168]uncertain significance121375336913753369Human1name
26912237CV839716single nucleotide variantNM_000834.5(GRIN2B):c.868C>T (p.Pro290Ser)Intellectual disability, autosomal dominant 6 [RCV001053329]benign|uncertain significance121375345913753459Human1name
8634595CV89815single nucleotide variantNM_000834.3(GRIN2B):c.842C>T (p.Ser281Leu)Malignant melanoma [RCV000069912]not provided121375348513753485Humanname
34891443CV904564deletionNM_000834.5(GRIN2B):c.1016del (p.Leu339fs)not provided [RCV001172062]likely pathogenic121367585413675854Humanname
34892294CV904937deletionNM_000834.5(GRIN2B):c.1088del (p.Val363fs)Intellectual disability, autosomal dominant 6 [RCV001172346]pathogenic121367578213675782Human1name
34892292CV904938single nucleotide variantNM_000834.5(GRIN2B):c.737C>A (p.Ser246Ter)Intellectual disability, autosomal dominant 6 [RCV001172345]pathogenic121375359013753590Human1name
34892290CV904939single nucleotide variantNM_000834.5(GRIN2B):c.649C>T (p.Gln217Ter)Intellectual disability, autosomal dominant 6 [RCV001172344]pathogenic121375367813753678Human1name
34892288CV904940single nucleotide variantNM_000834.5(GRIN2B):c.538C>T (p.Gln180Ter)Intellectual disability, autosomal dominant 6 [RCV001172343]pathogenic121375378913753789Human1name
38491320CV926574single nucleotide variantNM_000834.5(GRIN2B):c.4203C>T (p.Ser1401=)Intellectual disability, autosomal dominant 6 [RCV001222756]uncertain significance121356303513563035Human1name
38483182CV936041single nucleotide variantNM_000834.5(GRIN2B):c.364C>T (p.Pro122Ser)Intellectual disability, autosomal dominant 6 [RCV001207551]|not provided [RCV001760174]likely benign|uncertain significance121386584513865845Human1name
40814430CV969374duplicationNM_000834.5(GRIN2B):c.1251dup (p.Ile418fs)Intellectual disability [RCV001260645]pathogenic121361653113616532Human2name
40887348CV973836single nucleotide variantNM_000834.5(GRIN2B):c.396G>A (p.Met132Ile)Inborn genetic diseases [RCV001266887]uncertain significance121386581313865813Human1name
40904222CV976661single nucleotide variantNM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)Intellectual disability, autosomal dominant 6 [RCV001270385]likely pathogenic|uncertain significance121375343213753432Human1name
126754878CV995071single nucleotide variantNM_000834.5(GRIN2B):c.823A>G (p.Thr275Ala)Intellectual disability, autosomal dominant 6 [RCV001307732]uncertain significance121375350413753504Human1name
9480245CV152907single nucleotide variantNM_000834.5(GRIN2B):c.1238A>G (p.Glu413Gly)Intellectual disability, autosomal dominant 6 [RCV000132723]pathogenic121361654513616545Human1name
9686569CV171801single nucleotide variantNM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly)Developmental and epileptic encephalopathy, 27 [RCV000149503]|Intellectual disability, autosomal dominant 6 [RCV001172367]pathogenic|likely pathogenic121360876013608760Human2name
9686570CV171802single nucleotide variantNM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile)Developmental and epileptic encephalopathy, 27 [RCV000149504]|Intellectual disability, autosomal dominant 6 [RCV001172364]pathogenic|likely pathogenic121360876913608769Human2name
9686571CV171803single nucleotide variantNM_000834.5(GRIN2B):c.1619G>A (p.Arg540His)Inborn genetic diseases [RCV002514867]|Intellectual disability [RCV001260644]|Intellectual disability, autosomal dominant 6 [RCV000149505]|Intellectual disability, autosomal dominant 6 [RCV005411355]|not provided [RCV002293420]pathogenic|likely pathogenic121361514913615149Human4name
401798519CV2739365single nucleotide variantNM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)Developmental and epileptic encephalopathy, 27 [RCV004798979]|Intellectual disability, autosomal dominant 6 [RCV003777305]|not provided [RCV003319013]pathogenic|likely pathogenic121357188913571889Human2name
401875178CV2749880single nucleotide variantNM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)Developmental and epileptic encephalopathy, 27 [RCV003333274]|Intellectual disability, autosomal dominant 6 [RCV003333273]likely pathogenic|uncertain significance121356717113567171Human2name
401854988CV2752706single nucleotide variantNM_000834.5(GRIN2B):c.2699G>A (p.Arg900His)Developmental and epileptic encephalopathy, 27 [RCV003337760]uncertain significance121356453913564539Human1name
401906226CV2799861single nucleotide variantNM_000834.5(GRIN2B):c.2530T>A (p.Trp844Arg)GRIN2B-related disorder [RCV004536732]uncertain significance121356709313567093Humanname , trait , alternate_id
401905986CV2806759single nucleotide variantNM_000834.5(GRIN2B):c.2410G>T (p.Glu804Ter)not provided [RCV003396252]pathogenic121356721313567213Humanname
401912979CV2830127single nucleotide variantNM_000834.5(GRIN2B):c.2372A>T (p.Glu791Val)not provided [RCV003441342]uncertain significance121356725113567251Humanname
404992943CV3089000single nucleotide variantNM_000834.5(GRIN2B):c.1646C>G (p.Ala549Gly)Inborn genetic diseases [RCV004981017]|Intellectual disability, autosomal dominant 6 [RCV003782644]uncertain significance121361512213615122Human2name
405031104CV3095248single nucleotide variantNM_000834.5(GRIN2B):c.1349C>T (p.Pro450Leu)Intellectual disability, autosomal dominant 6 [RCV003796454]uncertain significance121361564413615644Human1name
405180769CV3101770single nucleotide variantNM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys)Intellectual disability, autosomal dominant 6 [RCV003803984]likely pathogenic121361521913615219Human1name
405169004CV3104167single nucleotide variantNM_000834.5(GRIN2B):c.2852A>T (p.Asn951Ile)Intellectual disability, autosomal dominant 6 [RCV003802844]uncertain significance121356438613564386Human1name
405171064CV3104348single nucleotide variantNM_000834.5(GRIN2B):c.1055G>A (p.Ser352Asn)Intellectual disability, autosomal dominant 6 [RCV003803025]uncertain significance121367581513675815Human1name
405173597CV3104801single nucleotide variantNM_000834.5(GRIN2B):c.2083A>G (p.Ile695Val)Intellectual disability, autosomal dominant 6 [RCV003803299]uncertain significance121357189213571892Human1name
405159017CV3109516single nucleotide variantNM_000834.5(GRIN2B):c.2795A>G (p.Tyr932Cys)Intellectual disability, autosomal dominant 6 [RCV003802040]uncertain significance121356444313564443Human1name
405105160CV3113173single nucleotide variantNM_000834.5(GRIN2B):c.2745T>A (p.Asn915Lys)Intellectual disability, autosomal dominant 6 [RCV003812464]benign121356449313564493Human1name
405746135CV3226362single nucleotide variantNM_000834.5(GRIN2B):c.1068C>A (p.Tyr356Ter)Intellectual disability, autosomal dominant 6 [RCV003991353]likely pathogenic121367580213675802Human1name
407424889CV3410825deletionNM_000834.5(GRIN2B):c.3391del (p.Asp1131fs)Intellectual disability, autosomal dominant 6 [RCV004586469]likely pathogenic121356384713563847Human1name
407463379CV3433233single nucleotide variantNM_000834.5(GRIN2B):c.1666G>A (p.Ala556Thr)Inborn genetic diseases [RCV004634810]uncertain significance121361183913611839Human1name
407463384CV3433235single nucleotide variantNM_000834.5(GRIN2B):c.1874G>T (p.Gly625Val)Inborn genetic diseases [RCV004634812]uncertain significance121360873913608739Human1name
407463388CV3433236single nucleotide variantNM_000834.5(GRIN2B):c.1882T>A (p.Ser628Thr)Inborn genetic diseases [RCV004634813]uncertain significance121360873113608731Human1name
407503490CV3495820single nucleotide variantNM_000834.5(GRIN2B):c.2941T>A (p.Tyr981Asn)not provided [RCV004697660]uncertain significance121356429713564297Humanname
408365285CV3501480single nucleotide variantNM_000834.5(GRIN2B):c.2483C>T (p.Ala828Val)Intellectual disability, autosomal dominant 6 [RCV004720712]uncertain significance121356714013567140Human1name
408387753CV3520467single nucleotide variantNM_000834.5(GRIN2B):c.1637C>T (p.Ser546Leu)not provided [RCV004761299]uncertain significance121361513113615131Humanname
408391324CV3521294single nucleotide variantNM_000834.5(GRIN2B):c.2674A>G (p.Asn892Asp)not provided [RCV004763116]uncertain significance121356456413564564Humanname
408391747CV3523371single nucleotide variantNM_000834.5(GRIN2B):c.2849A>G (p.Asn950Ser)not provided [RCV004770744]uncertain significance121356438913564389Humanname
408390797CV3527736single nucleotide variantNM_000834.5(GRIN2B):c.2222G>A (p.Gly741Asp)not provided [RCV004775005]uncertain significance121356996713569967Humanname
408389020CV3529181single nucleotide variantNM_000834.5(GRIN2B):c.2827C>T (p.His943Tyr)not provided [RCV004774003]uncertain significance121356441113564411Humanname
596930880CV3529722single nucleotide variantNM_000834.5(GRIN2B):c.2891G>A (p.Ser964Asn)not provided [RCV004780771]uncertain significance121356434713564347Humanname
596930940CV3529784single nucleotide variantNM_000834.5(GRIN2B):c.2968C>T (p.Arg990Trp)Intellectual disability, autosomal dominant 6 [RCV005221056]|not provided [RCV004780834]uncertain significance121356427013564270Human1name
596931219CV3531552single nucleotide variantNM_000834.5(GRIN2B):c.1485T>A (p.Asn495Lys)not provided [RCV004781114]uncertain significance121361550813615508Humanname
596927659CV3532652single nucleotide variantNM_000834.5(GRIN2B):c.1168G>T (p.Val390Leu)not provided [RCV004778750]uncertain significance121361661513616615Humanname
596921961CV3535590single nucleotide variantNM_000834.5(GRIN2B):c.1111A>G (p.Arg371Gly)Intellectual disability, autosomal dominant 6 [RCV004785145]uncertain significance121367575913675759Human1name
596924915CV3536816single nucleotide variantNM_000834.5(GRIN2B):c.2060C>A (p.Pro687His)Intellectual disability, autosomal dominant 6 [RCV004785810]uncertain significance121357191513571915Human1name
596922297CV3537095single nucleotide variantNM_000834.5(GRIN2B):c.1075C>T (p.His359Tyr)not provided [RCV004786090]uncertain significance121367579513675795Humanname
596922914CV3537463single nucleotide variantNM_000834.5(GRIN2B):c.2366T>C (p.Met789Thr)not provided [RCV004787433]uncertain significance121356725713567257Humanname
596923148CV3537585single nucleotide variantNM_000834.5(GRIN2B):c.2533C>T (p.Gln845Ter)Intellectual disability, autosomal dominant 6 [RCV004787553]pathogenic121356709013567090Human1name
596928429CV3540406single nucleotide variantNM_000834.5(GRIN2B):c.2471T>A (p.Met824Lys)Intellectual disability, autosomal dominant 6 [RCV004794733]likely pathogenic121356715213567152Human1name
596929440CV3540931single nucleotide variantNM_000834.5(GRIN2B):c.2514C>A (p.Cys838Ter)Intellectual disability, autosomal dominant 6 [RCV004795254]|Intellectual disability, autosomal dominant 6 [RCV005218332]pathogenic121356710913567109Human1name
596946730CV3548560single nucleotide variantNM_000834.5(GRIN2B):c.2950C>T (p.His984Tyr)not provided [RCV004810387]uncertain significance121356428813564288Humanname
597662053CV3678678single nucleotide variantNM_000834.5(GRIN2B):c.1541C>G (p.Thr514Ser)Inborn genetic diseases [RCV004977705]uncertain significance121361522713615227Human1name
597690880CV3678681single nucleotide variantNM_000834.5(GRIN2B):c.2652G>A (p.Met884Ile)Inborn genetic diseases [RCV004985628]|Intellectual disability, autosomal dominant 6 [RCV005221183]uncertain significance121356458613564586Human2name
597655082CV3731451single nucleotide variantNM_000834.5(GRIN2B):c.2575G>A (p.Gly859Ser)not provided [RCV005001632]uncertain significance121356704813567048Humanname
597882811CV3865941single nucleotide variantNM_000834.5(GRIN2B):c.1412C>A (p.Ser471Tyr)Intellectual disability, autosomal dominant 6 [RCV005217606]uncertain significance121361558113615581Human1name
597896959CV3866127single nucleotide variantNM_000834.5(GRIN2B):c.2021C>T (p.Pro674Leu)Intellectual disability, autosomal dominant 6 [RCV005219744]uncertain significance121357195413571954Human1name
597870161CV3866256single nucleotide variantNM_000834.5(GRIN2B):c.2368G>T (p.Glu790Ter)Intellectual disability, autosomal dominant 6 [RCV005215597]pathogenic121356725513567255Human1name
597884410CV3866328single nucleotide variantNM_000834.5(GRIN2B):c.1588A>G (p.Ile530Val)Intellectual disability, autosomal dominant 6 [RCV005217804]uncertain significance121361518013615180Human1name
597885471CV3866497single nucleotide variantNM_000834.5(GRIN2B):c.1213C>T (p.His405Tyr)Intellectual disability, autosomal dominant 6 [RCV005217973]likely benign121361657013616570Human1name
597886172CV3866582single nucleotide variantNM_000834.5(GRIN2B):c.2344C>T (p.Gln782Ter)Intellectual disability, autosomal dominant 6 [RCV005218058]pathogenic121356984513569845Human1name
8567883CV38685single nucleotide variantNM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys)Intellectual disability [RCV001260642]|Intellectual disability, autosomal dominant 6 [RCV000022582]|not provided [RCV001541943]pathogenic|likely pathogenic121357193113571931Human3name
597854087CV3869867deletionNM_000834.5(GRIN2B):c.3558del (p.Lys1186fs)Intellectual disability, autosomal dominant 6 [RCV005213152]pathogenic121356368013563680Human1name
597877230CV3871558single nucleotide variantNM_000834.5(GRIN2B):c.1852G>A (p.Val618Ile)Intellectual disability, autosomal dominant 6 [RCV005216774]likely pathogenic121360876113608761Human1name
597841232CV3873682single nucleotide variantNM_000834.5(GRIN2B):c.1321G>A (p.Val441Ile)Intellectual disability, autosomal dominant 6 [RCV005226509]uncertain significance121361646213616462Human1name
597845067CV3875881single nucleotide variantNM_000834.5(GRIN2B):c.2899G>C (p.Glu967Gln)Intellectual disability, autosomal dominant 6 [RCV005211963]uncertain significance121356433913564339Human1name
597845073CV3875882single nucleotide variantNM_000834.5(GRIN2B):c.2672T>C (p.Met891Thr)Intellectual disability, autosomal dominant 6 [RCV005211964]uncertain significance121356456613564566Human1name
597897880CV3875962single nucleotide variantNM_000834.5(GRIN2B):c.1826T>C (p.Leu609Pro)Intellectual disability, autosomal dominant 6 [RCV005219852]uncertain significance121360878713608787Human1name
597851679CV3877118single nucleotide variantNM_000834.5(GRIN2B):c.2404C>T (p.His802Tyr)Intellectual disability, autosomal dominant 6 [RCV005228346]uncertain significance121356721913567219Human1name
597851695CV3877120single nucleotide variantNM_000834.5(GRIN2B):c.1074G>A (p.Met358Ile)Intellectual disability, autosomal dominant 6 [RCV005228348]uncertain significance121367579613675796Human1name
597930991CV3878525single nucleotide variantNM_000834.5(GRIN2B):c.2537T>G (p.Phe846Cys)Intellectual disability, autosomal dominant 6 [RCV005224895]uncertain significance121356708613567086Human1name
597915750CV3879030single nucleotide variantNM_000834.5(GRIN2B):c.2922G>C (p.Gln974His)Intellectual disability, autosomal dominant 6 [RCV005222566]uncertain significance121356431613564316Human1name
598126673CV3882128single nucleotide variantNM_000834.5(GRIN2B):c.1645G>T (p.Ala549Ser)not provided [RCV005233679]uncertain significance121361512313615123Humanname
598125399CV3883978single nucleotide variantNM_000834.5(GRIN2B):c.2144A>G (p.Asp715Gly)not provided [RCV005236333]uncertain significance121357183113571831Humanname
598238088CV3893371single nucleotide variantNM_000834.5(GRIN2B):c.1143C>G (p.Asp381Glu)not provided [RCV005256104]uncertain significance121361664013616640Humanname
598188177CV3978128single nucleotide variantNM_000834.5(GRIN2B):c.2636A>C (p.Glu879Ala)Inborn genetic diseases [RCV005353809]uncertain significance121356460213564602Human1name
616934928CV4009150deletionNM_000834.5(GRIN2B):c.4386del (p.Arg1463fs)Developmental and epileptic encephalopathy, 27 [RCV005402323]likely pathogenic121356285213562852Human1name
616935010CV4009236single nucleotide variantNM_000834.5(GRIN2B):c.2939T>G (p.Val980Gly)not provided [RCV005402408]uncertain significance121356429913564299Humanname
616933434CV4013705indelNM_000834.5(GRIN2B):c.2360-3_2377delinsTTTCIntellectual disability, autosomal dominant 6 [RCV005411193]likely pathogenic121356724613567266Humanname
616937815CV4015717single nucleotide variantNM_000834.5(GRIN2B):c.2141T>A (p.Val714Glu)Autism spectrum disorder [RCV005413229]likely pathogenic121357183413571834Human2name
617151119CV4017753single nucleotide variantNM_000834.5(GRIN2B):c.2072C>T (p.Thr691Ile)Developmental and epileptic encephalopathy, 27 [RCV005417538]likely pathogenic121357190313571903Human1name
617151319CV4017755single nucleotide variantNM_000834.5(GRIN2B):c.2389C>T (p.Leu797Phe)Developmental and epileptic encephalopathy, 27 [RCV005417540]likely pathogenic121356723413567234Human1name
617151125CV4017756single nucleotide variantNM_000834.5(GRIN2B):c.2287G>A (p.Gly763Ser)Developmental and epileptic encephalopathy, 27 [RCV005417541]likely pathogenic121356990213569902Human1name
617151141CV4017764single nucleotide variantNM_000834.5(GRIN2B):c.1883C>A (p.Ser628Tyr)Developmental and epileptic encephalopathy, 27 [RCV005417549]likely pathogenic121360873013608730Human1name
617152185CV4018318single nucleotide variantNM_000834.5(GRIN2B):c.2984G>A (p.Gly995Asp)not specified [RCV005418578]uncertain significance121356425413564254Humanname
8570575CV48257single nucleotide variantNM_000834.5(GRIN2B):c.1367G>A (p.Cys456Tyr)Intellectual disability, autosomal dominant 6 [RCV000032862]pathogenic|likely pathogenic121361562613615626Human1name
8604312CV48259single nucleotide variantNM_000834.5(GRIN2B):c.1677G>A (p.Trp559Ter)Intellectual disability, autosomal dominant 6 [RCV000032864]|not provided [RCV000627229]pathogenic121361182813611828Human1name
8570576CV48260single nucleotide variantNM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu)Developmental and epileptic encephalopathy, 27 [RCV002466416]|Intellectual disability, autosomal dominant 6 [RCV000032865]pathogenic|likely pathogenic121361184713611847Human2name
40816415CV967276single nucleotide variantNM_000834.5(GRIN2B):c.2434C>T (p.Gln812Ter)Intellectual disability, autosomal dominant 6 [RCV001258335]|Intellectual disability, autosomal dominant 6 [RCV003770348]pathogenic121356718913567189Human1name
40814431CV969372single nucleotide variantNM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg)Developmental and epileptic encephalopathy, 27 [RCV003339569]|Intellectual disability [RCV001260646]pathogenic|likely pathogenic|uncertain significance121360865213608652Human3name
40814432CV969373single nucleotide variantNM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)GRIN2B-related disorder [RCV004538546]|Intellectual disability [RCV001260647]|Intellectual disability, autosomal dominant 6 [RCV001270427]pathogenic|likely pathogenic121361521213615212Human3name , alternate_id
40814429CV969375single nucleotide variantNM_000834.5(GRIN2B):c.1022A>T (p.Asn341Ile)Intellectual disability [RCV001260641]likely pathogenic121367584813675848Human2name
40888389CV971450single nucleotide variantNM_000834.5(GRIN2B):c.2639G>A (p.Arg880His)Developmental and epileptic encephalopathy, 27 [RCV004799490]|Intellectual disability, autosomal dominant 6 [RCV001369317]|not provided [RCV003328667]uncertain significance121356459913564599Human2name
40887663CV972961single nucleotide variantNM_000834.5(GRIN2B):c.2461G>T (p.Val821Phe)Complex neurodevelopmental disorder [RCV001265389]|not provided [RCV001558659]pathogenic121356716213567162Human1name
40887660CV972962single nucleotide variantNM_000834.5(GRIN2B):c.2237G>A (p.Cys746Tyr)Complex neurodevelopmental disorder [RCV001265386]likely pathogenic121356995213569952Human1name
40887655CV972963single nucleotide variantNM_000834.5(GRIN2B):c.1675T>A (p.Trp559Arg)Complex neurodevelopmental disorder [RCV001265380]uncertain significance121361183013611830Human1name
40887737CV972964single nucleotide variantNM_000834.5(GRIN2B):c.1627G>C (p.Gly543Arg)Complex neurodevelopmental disorder [RCV001265473]likely pathogenic121361514113615141Human1name
40887621CV972966single nucleotide variantNM_000834.5(GRIN2B):c.1496G>A (p.Gly499Glu)Complex neurodevelopmental disorder [RCV001265243]likely pathogenic121361549713615497Human1name
40887657CV972967single nucleotide variantNM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter)Autosomal dominant non-syndromic intellectual disability [RCV002287490]|Complex neurodevelopmental disorder [RCV001265382]|not provided [RCV001311291]pathogenic|likely pathogenic121361660613616606Human2name
40886735CV973835single nucleotide variantNM_000834.5(GRIN2B):c.1922T>C (p.Ile641Thr)Inborn genetic diseases [RCV001265965]uncertain significance121360869113608691Human1name
40903873CV976364single nucleotide variantNM_000834.5(GRIN2B):c.2189T>C (p.Ile730Thr)not provided [RCV001269704]likely pathogenic121357000013570000Humanname
41408220CV980945single nucleotide variantNM_000834.5(GRIN2B):c.1287C>A (p.Cys429Ter)Intellectual disability, autosomal dominant 6 [RCV001283816]likely pathogenic121361649613616496Human1name
8644916CV104323single nucleotide variantNM_000834.5(GRIN2B):c.4240G>T (p.Ala1414Ser)GRIN2B-related disorder [RCV004542802]|Inborn genetic diseases [RCV002316286]|Intellectual disability, autosomal dominant 6 [RCV001087866]|not provided [RCV000084721]benign|likely benign|uncertain significance|not provided121356299813562998Human2alternate_id
156162300CV1933272single nucleotide variantNM_000834.5(GRIN2B):c.4114A>G (p.Met1372Val)GRIN2B-related disorder [RCV004540589]|Intellectual disability, autosomal dominant 6 [RCV002624417]benign|likely benign121356312413563124Human1alternate_id
10396113CV202661single nucleotide variantNM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)Developmental and epileptic encephalopathy, 27 [RCV001781554]|GRIN2B-related disorder [RCV004539739]|Inborn genetic diseases [RCV002314720]|Intellectual disability, autosomal dominant 6 [RCV000471349]|not provided [RCV000726884]|not specified [RCV003993873]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance121356416213564162Human3alternate_id
10396111CV202664single nucleotide variantNM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu)GRIN2B-related disorder [RCV004537577]|Inborn genetic diseases [RCV002433846]|Intellectual disability, autosomal dominant 6 [RCV000694944]|not provided [RCV000733887]likely benign|conflicting interpretations of pathogenicity|uncertain significance121356430713564307Human2alternate_id
10396119CV202672single nucleotide variantNM_000834.5(GRIN2B):c.1768G>A (p.Ala590Thr)GRIN2B-related disorder [RCV004539741]|Intellectual disability, autosomal dominant 6 [RCV001042553]|not provided [RCV001092382]|not specified [RCV005237682]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance121361173713611737Human1alternate_id
11091251CV231836single nucleotide variantNM_000834.5(GRIN2B):c.2459G>T (p.Gly820Val)GRIN2B-related disorder [RCV004529382]|Intellectual disability, autosomal dominant 6 [RCV001172337]|not provided [RCV000217079]pathogenic|likely pathogenic121356716413567164Human1alternate_id
11523144CV244780single nucleotide variantNM_000834.5(GRIN2B):c.3818C>A (p.Thr1273Lys)GRIN2B-related disorder [RCV004532978]|Intellectual disability, autosomal dominant 6 [RCV000867207]|not provided [RCV001705308]benign|likely benign|uncertain significance121356342013563420Human1alternate_id
11524146CV244787single nucleotide variantNM_000834.5(GRIN2B):c.3389G>A (p.Arg1130Gln)GRIN2B-related disorder [RCV004541467]|Intellectual disability, autosomal dominant 6 [RCV000556709]|not provided [RCV001722272]|not specified [RCV005238777]benign|likely benign|uncertain significance121356384913563849Human1alternate_id
329355602CV2477507single nucleotide variantNM_000834.5(GRIN2B):c.4082A>G (p.His1361Arg)GRIN2B-related disorder [RCV003223454]not provided121356315613563156Humantrait , alternate_id
401936115CV2796257single nucleotide variantNM_000834.5(GRIN2B):c.1760G>A (p.Arg587Lys)GRIN2B-related disorder [RCV004529733]uncertain significance121361174513611745Humantrait , alternate_id
401923043CV2796685single nucleotide variantNM_000834.5(GRIN2B):c.4288G>A (p.Val1430Met)GRIN2B-related disorder [RCV004527952]uncertain significance121356295013562950Humantrait , alternate_id
401919441CV2798236single nucleotide variantNM_000834.5(GRIN2B):c.2806G>T (p.Glu936Ter)GRIN2B-related disorder [RCV004527861]likely pathogenic121356443213564432Humantrait , alternate_id
401931788CV2801765single nucleotide variantNM_000834.5(GRIN2B):c.1378T>G (p.Phe460Val)GRIN2B-related disorder [RCV004529292]uncertain significance121361561513615615Humantrait , alternate_id
12906192CV415325single nucleotide variantNM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys)Complex neurodevelopmental disorder [RCV001265378]|GRIN2B-related disorder [RCV003233648]|Intellectual disability [RCV001260640]|Intellectual disability, autosomal dominant 6 [RCV002063832]|not provided [RCV000488929]pathogenic|likely pathogenic|not provided121356710813567108Human4alternate_id
13489364CV462310single nucleotide variantNM_000834.5(GRIN2B):c.3493G>A (p.Asp1165Asn)GRIN2B-related disorder [RCV004543260]|Inborn genetic diseases [RCV002456269]|Intellectual disability, autosomal dominant 6 [RCV000532871]|not specified [RCV004689794]likely benign|uncertain significance121356374513563745Human2alternate_id
13803077CV567934single nucleotide variantNM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu)Complex neurodevelopmental disorder [RCV001265384]|GRIN2B-related disorder [RCV004723112]|Intellectual disability, autosomal dominant 6 [RCV000704324]|Intellectual disability, autosomal dominant 6 [RCV001172338]|not provided [RCV001555980]pathogenic|likely pathogenic|uncertain significance121356716413567164Human2alternate_id
21072337CV791217single nucleotide variantNM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser)Complex neurodevelopmental disorder [RCV001265471]|GRIN2B-related disorder [RCV005250123]|Intellectual disability, autosomal dominant 6 [RCV000988789]likely pathogenic121357189413571894Human2alternate_id
12742701CV359943indelNM_000834.5(GRIN2B):c.1780+2_1780+3delinsGTnot provided [RCV000414287]pathogenic121361172213611723Humanname
405007726CV3096205single nucleotide variantNM_000834.5(GRIN2B):c.1786G>A (p.Gly596Ser)Intellectual disability, autosomal dominant 6 [RCV003794355]likely benign121360882713608827Human1name
405094560CV3105545single nucleotide variantNM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)Intellectual disability, autosomal dominant 6 [RCV003801262]likely pathogenic121356716713567167Human1name
405014708CV3106657single nucleotide variantNM_000834.5(GRIN2B):c.1509G>A (p.Met503Ile)Intellectual disability, autosomal dominant 6 [RCV003794994]uncertain significance121361525913615259Human1name