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Pathways
Variants search result for Homo sapiens
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More than 1000 records found for search term Arid1a (Displaying 1000)
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150423118CV1182911single nucleotide variantNM_006015.6(ARID1A):c.*5C>TARID1A-related disorder [RCV003910874]|not provided [RCV001554898]likely benign12678076126780761Human1name , alternate_id
155802899CV1857838single nucleotide variantNM_006015.6(ARID1A):c.*3G>Anot provided [RCV002461688]uncertain significance12678075926780759Humanname
405288622CV3193729single nucleotide variantNM_006015.6(ARID1A):c.*2A>GARID1A-related disorder [RCV003982735]likely benign12678075826780758Humanname , trait , alternate_id
13215026CV427761single nucleotide variantNM_006015.6(ARID1A):c.-7G>Tnot specified [RCV000501996]uncertain significance12669639726696397Humanname
150427357CV1186180single nucleotide variantNM_006015.6(ARID1A):c.*10G>Tnot provided [RCV001560817]likely benign12678076626780766Humanname
150442362CV1204695single nucleotide variantNM_006015.6(ARID1A):c.*37C>Gnot provided [RCV001583802]likely benign12678079326780793Humanname
150464313CV1214920single nucleotide variantNM_006015.6(ARID1A):c.-27C>Tnot provided [RCV001613917]benign12669637726696377Humanname
150433267CV1216853single nucleotide variantNM_006015.6(ARID1A):c.*25C>Tnot provided [RCV001608755]benign12678078126780781Humanname
150476562CV1239898single nucleotide variantNM_006015.6(ARID1A):c.*21C>Tnot provided [RCV001652075]benign12678077726780777Humanname
150458742CV1248983single nucleotide variantNM_006015.6(ARID1A):c.*37C>Tnot provided [RCV001669160]benign12678079326780793Humanname
150483214CV1261747duplicationNM_006015.6(ARID1A):c.*25dupnot provided [RCV001686351]benign12678077226780773Humanname
150439608CV1266797single nucleotide variantNM_006015.6(ARID1A):c.*23C>Tnot provided [RCV001690232]benign12678077926780779Humanname
126743360CV1015711single nucleotide variantNM_006015.6(ARID1A):c.3539+5G>AIntellectual disability, autosomal dominant 14 [RCV001330184]uncertain significance12677263726772637Human1name
127294125CV1162213single nucleotide variantNM_006015.6(ARID1A):c.1803+5G>Cnot provided [RCV001527345]uncertain significance12673160926731609Humanname
150410602CV1195889single nucleotide variantNM_006015.6(ARID1A):c.3716-7C>TIntellectual disability, autosomal dominant 14 [RCV002260207]|not provided [RCV001573199]|not specified [RCV001821906]benign|likely benign12677333926773339Human1name
150520253CV1289537single nucleotide variantNM_006015.6(ARID1A):c.4101+1G>Anot provided [RCV001728182]not provided12677389926773899Humanname
150532123CV1292272single nucleotide variantNM_006015.6(ARID1A):c.4101+1G>Cnot provided [RCV001733855]not provided12677389926773899Humanname
150536247CV1298723duplicationNM_006015.6(ARID1A):c.4994-4dupnot provided [RCV001760871]conflicting interpretations of pathogenicity|uncertain significance12677557026775571Humanname
151234043CV1318070single nucleotide variantNM_006015.6(ARID1A):c.1803+1G>Cnot provided [RCV001789725]not provided12673160526731605Humanname
151233205CV1320144single nucleotide variantNM_006015.6(ARID1A):c.4994-2A>Tnot provided [RCV001799534]not provided12677557526775575Humanname
151233208CV1320145single nucleotide variantNM_006015.6(ARID1A):c.3539+1G>Anot provided [RCV001799535]not provided12677263326772633Humanname
151853591CV1459271single nucleotide variantNM_006015.6(ARID1A):c.5125-5T>Cnot provided [RCV002016908]benign|uncertain significance12677901826779018Humanname
155644353CV1708628single nucleotide variantNM_006015.6(ARID1A):c.2878+5G>AIntellectual disability, autosomal dominant 14 [RCV002291161]uncertain significance12676637126766371Human1name
155798643CV1862102single nucleotide variantNM_006015.6(ARID1A):c.1350+1G>TIntellectual disability, autosomal dominant 14 [RCV002471505]uncertain significance12672986426729864Human1name
156041278CV1891057single nucleotide variantNM_006015.6(ARID1A):c.3866+7A>Tnot provided [RCV003078527]likely benign12677350326773503Humanname
155963761CV1952233single nucleotide variantNM_006015.6(ARID1A):c.2989-3C>Gnot provided [RCV002512503]not provided12676778726767787Humanname
156223304CV1960380single nucleotide variantNM_006015.6(ARID1A):c.1921-4C>Tnot provided [RCV002575609]likely benign12676085226760852Humanname
156199238CV1968065single nucleotide variantNM_006015.6(ARID1A):c.2251+7G>Tnot provided [RCV002625669]likely benign12676148026761480Humanname
156388825CV1996036single nucleotide variantNM_006015.6(ARID1A):c.3716-8A>Gnot provided [RCV002654198]likely benign12677333826773338Humanname
156112422CV1998583single nucleotide variantNM_006015.6(ARID1A):c.2251+7G>Cnot provided [RCV002639995]likely benign12676148026761480Humanname
155993859CV2023453single nucleotide variantNM_006015.6(ARID1A):c.2420-9C>Tnot provided [RCV002755870]likely benign12676296426762964Humanname
156012910CV2103762single nucleotide variantNM_006015.6(ARID1A):c.2161+6C>Gnot provided [RCV002909209]benign|uncertain significance12676110226761102Humanname
243063453CV2411773single nucleotide variantNM_006015.6(ARID1A):c.2988+3A>TIntellectual disability, autosomal dominant 14 [RCV003141496]uncertain significance12676656926766569Human1name
11632995CV264021single nucleotide variantNM_006015.6(ARID1A):c.2988+1G>Anot provided [RCV000305102]pathogenic12676656726766567Humanname
329953919CV2669261single nucleotide variantNM_006015.6(ARID1A):c.3715+4A>Tnot provided [RCV003231767]uncertain significance12677299126772991Humanname
402514215CV2855510single nucleotide variantNM_006015.6(ARID1A):c.4101+9G>Cnot provided [RCV003547269]likely benign12677390726773907Humanname
405094323CV2874698single nucleotide variantNM_006015.6(ARID1A):c.2733-4T>Cnot provided [RCV003550133]likely benign12676621726766217Humanname
405162062CV2960370single nucleotide variantNM_006015.6(ARID1A):c.3716-3C>Tnot provided [RCV003674755]benign|uncertain significance12677334326773343Humanname
405241260CV2970714single nucleotide variantNM_006015.6(ARID1A):c.4102-7G>Anot provided [RCV003684091]likely benign12677432226774322Humanname
405085859CV3047742single nucleotide variantNM_006015.6(ARID1A):c.5125-6T>CARID1A-related disorder [RCV003939169]|not provided [RCV003717465]likely benign12677901726779017Human1name , alternate_id
405156519CV3064981single nucleotide variantNM_006015.6(ARID1A):c.4005-7C>Anot provided [RCV003726793]likely benign12677379526773795Humanname
405230321CV3070178single nucleotide variantNM_006015.6(ARID1A):c.3716-6G>Anot provided [RCV003734785]likely benign12677334026773340Humanname
405243493CV3071893single nucleotide variantNM_006015.6(ARID1A):c.1803+9T>Anot provided [RCV003737812]likely benign12673161326731613Humanname
405113857CV3115359single nucleotide variantNM_006015.6(ARID1A):c.3407-8G>Cnot provided [RCV003814041]likely benign12677249226772492Humanname
405194270CV3167642deletionNM_006015.6(ARID1A):c.4101+6delnot provided [RCV003860048]uncertain significance12677390326773903Humanname
405286050CV3218688single nucleotide variantNM_006015.6(ARID1A):c.3866+8T>AARID1A-related disorder [RCV003959414]likely benign12677350426773504Humanname , trait , alternate_id
596925157CV3541853single nucleotide variantNM_006015.6(ARID1A):c.3198+2T>AIntellectual disability, autosomal dominant 14 [RCV004795566]likely pathogenic12676800126768001Human1name
596947367CV3548920single nucleotide variantNM_006015.6(ARID1A):c.3716-4T>Cnot provided [RCV004811244]uncertain significance12677334226773342Humanname
12835826CV365101single nucleotide variantNM_006015.6(ARID1A):c.3715+5C>Tnot provided [RCV000422355]uncertain significance12677299226772992Humanname
597865316CV3742306single nucleotide variantNM_006015.6(ARID1A):c.2988+6G>Anot provided [RCV005067922]uncertain significance12676657226766572Humanname
597874040CV3775436single nucleotide variantNM_006015.6(ARID1A):c.2161+7T>Cnot provided [RCV005123166]likely benign12676110326761103Humanname
597941122CV3785717single nucleotide variantNM_006015.6(ARID1A):c.5124+5G>Tnot provided [RCV005133609]uncertain significance12677571226775712Humanname
597975912CV3796006single nucleotide variantNM_006015.6(ARID1A):c.2420-8C>Tnot provided [RCV005144837]likely benign12676296526762965Humanname
597870534CV3799822deletionNM_006015.6(ARID1A):c.3540-7delnot provided [RCV005148236]likely benign12677280526772805Humanname
597879217CV3813794single nucleotide variantNM_006015.6(ARID1A):c.3867-6G>Anot provided [RCV005149536]likely benign12677357426773574Humanname
597849657CV3824463single nucleotide variantNM_006015.6(ARID1A):c.1350+5A>Tnot provided [RCV005173502]uncertain significance12672986826729868Humanname
597840405CV3825314single nucleotide variantNM_006015.6(ARID1A):c.4005-7C>Gnot provided [RCV005171997]likely benign12677379526773795Humanname
598126198CV3886130single nucleotide variantNM_006015.6(ARID1A):c.2419+6T>Cnot provided [RCV005241933]uncertain significance12676232526762325Humanname
616937472CV4013461single nucleotide variantNM_006015.6(ARID1A):c.3198+5G>AIntellectual disability, autosomal dominant 14 [RCV005411024]likely pathogenic12676800426768004Human1name
12894003CV405146single nucleotide variantNM_006015.6(ARID1A):c.1920+5G>AIntellectual disability, autosomal dominant 14 [RCV005230950]|not provided [RCV000481111]likely pathogenic12673279726732797Human1name
13216607CV427781single nucleotide variantNM_006015.6(ARID1A):c.1803+9T>CIntellectual disability, autosomal dominant 14 [RCV002506219]|not provided [RCV002524154]|not specified [RCV000503969]likely benign12673161326731613Human1name
14698220CV623187single nucleotide variantNM_006015.6(ARID1A):c.4101+1G>Tnot provided [RCV000786783]not provided12677389926773899Humanname
15163962CV777125single nucleotide variantNM_006015.6(ARID1A):c.1137+7A>Tnot provided [RCV000948220]likely benign12669754726697547Humanname
21404023CV800921single nucleotide variantNM_006015.6(ARID1A):c.2879-1G>AIntellectual disability, autosomal dominant 14 [RCV001003475]pathogenic12676645626766456Human1name
38597682CV964646single nucleotide variantNM_006015.6(ARID1A):c.4102-1G>CIntellectual disability, autosomal dominant 14 [RCV001252992]likely pathogenic12677432826774328Human1name
40814709CV970685single nucleotide variantNM_006015.6(ARID1A):c.4004+5G>AIntellectual disability, autosomal dominant 14 [RCV001262225]uncertain significance12677372226773722Human1name
40904246CV976642duplicationNM_006015.6(ARID1A):c.3198+2dupIntellectual disability, autosomal dominant 14 [RCV001270408]likely pathogenic12676800026768001Human1name
150427541CV1186174single nucleotide variantNM_006015.6(ARID1A):c.1350+25G>Cnot provided [RCV001561060]likely benign12672988826729888Humanname
150426475CV1186176single nucleotide variantNM_006015.6(ARID1A):c.3199-25C>TARID1A-related disorder [RCV003966189]|not provided [RCV001559624]likely benign12677109426771094Human1name , alternate_id
150429267CV1186178single nucleotide variantNM_006015.6(ARID1A):c.4993+22G>Cnot provided [RCV001563371]likely benign12677524226775242Humanname
150417047CV1196601single nucleotide variantNM_006015.6(ARID1A):c.3199-74G>Cnot provided [RCV001576135]likely benign12677104526771045Humanname
150466246CV1201213single nucleotide variantNM_006015.6(ARID1A):c.4004+35C>Tnot provided [RCV001587693]likely benign12677375226773752Humanname
150475108CV1217900single nucleotide variantNM_006015.6(ARID1A):c.1920+51A>Cnot provided [RCV001615911]benign12673284326732843Humanname
150479846CV1221855single nucleotide variantNM_006015.6(ARID1A):c.2252-97A>TIntellectual disability, autosomal dominant 14 [RCV002260231]|not provided [RCV001616651]benign12676205526762055Human1name
150511012CV1229325single nucleotide variantNM_006015.6(ARID1A):c.4994-20G>CIntellectual disability, autosomal dominant 14 [RCV002260235]|not provided [RCV001637253]benign12677555726775557Human1name
150433362CV1230501single nucleotide variantNM_006015.6(ARID1A):c.1920+51A>Gnot provided [RCV001643446]benign12673284326732843Humanname
150499603CV1235757single nucleotide variantNM_006015.6(ARID1A):c.2161+49A>Gnot provided [RCV001656440]benign12676114526761145Humanname
150496925CV1236937single nucleotide variantNM_006015.6(ARID1A):c.2988+36G>AIntellectual disability, autosomal dominant 14 [RCV002260254]|not provided [RCV001656001]benign12676660226766602Human1name
150507587CV1244603single nucleotide variantNM_006015.6(ARID1A):c.3198+10C>Tnot provided [RCV001658852]likely benign12676800926768009Humanname
150463358CV1253792single nucleotide variantNM_006015.6(ARID1A):c.4101+42C>Tnot provided [RCV001669834]benign12677394026773940Humanname
150452620CV1254987single nucleotide variantNM_006015.6(ARID1A):c.2420-18G>CIntellectual disability, autosomal dominant 14 [RCV002260294]|not provided [RCV001668046]benign12676295526762955Human1name
150474021CV1262999single nucleotide variantNM_006015.6(ARID1A):c.1351-22A>CIntellectual disability, autosomal dominant 14 [RCV002260318]|not provided [RCV001684815]benign12673113026731130Human1name
150490918CV1267692single nucleotide variantNM_006015.6(ARID1A):c.3407-45A>Cnot provided [RCV001687716]benign12677245526772455Humanname
150442024CV1287657single nucleotide variantNM_006015.6(ARID1A):c.3199-95A>GIntellectual disability, autosomal dominant 14 [RCV002260400]|not provided [RCV001725377]benign12677102426771024Human1name
150534232CV1293383single nucleotide variantNM_006015.6(ARID1A):c.3199-27C>Tnot provided [RCV001756604]benign12677109226771092Humanname
152051139CV1523409single nucleotide variantNM_006015.6(ARID1A):c.3540-12C>Tnot provided [RCV002127267]benign12677280026772800Humanname
152052051CV1523538duplicationNM_006015.6(ARID1A):c.1137+18dupnot provided [RCV002127363]benign12669755426697555Humanname
152127195CV1533958single nucleotide variantNM_006015.6(ARID1A):c.3539+16G>Anot provided [RCV002136468]likely benign12677264826772648Humanname
152084519CV1554910single nucleotide variantNM_006015.6(ARID1A):c.2420-10C>Anot provided [RCV002211864]likely benign12676296326762963Humanname
153000739CV1685612single nucleotide variantNM_006015.6(ARID1A):c.1351-82C>TIntellectual disability, autosomal dominant 14 [RCV002260430]benign12673107026731070Human1name
156289227CV1961366single nucleotide variantNM_006015.6(ARID1A):c.2732+18G>Cnot provided [RCV002577761]likely benign12676330326763303Humanname
156373863CV1963156single nucleotide variantNM_006015.6(ARID1A):c.4004+20G>Anot provided [RCV002582636]likely benign12677373726773737Humanname
156288106CV1964737single nucleotide variantNM_006015.6(ARID1A):c.1350+13T>Cnot provided [RCV002577720]likely benign12672987626729876Humanname
156353037CV1965609single nucleotide variantNM_006015.6(ARID1A):c.2733-16C>Gnot provided [RCV002581197]likely benign12676620526766205Humanname
156328474CV1969772single nucleotide variantNM_006015.6(ARID1A):c.3406+18G>Anot provided [RCV002600658]likely benign12677134426771344Humanname
156419608CV1977666single nucleotide variantNM_006015.6(ARID1A):c.2733-14A>Gnot provided [RCV002612847]likely benign12676620726766207Humanname
156401124CV1991998single nucleotide variantNM_006015.6(ARID1A):c.3866+14C>Tnot provided [RCV002605615]likely benign12677351026773510Humanname
156185439CV1997753single nucleotide variantNM_006015.6(ARID1A):c.1921-13A>Tnot provided [RCV002643155]likely benign12676084326760843Humanname
156378040CV2000529single nucleotide variantNM_006015.6(ARID1A):c.2879-11C>Anot provided [RCV002653447]likely benign12676644626766446Humanname
156094844CV2010509single nucleotide variantNM_006015.6(ARID1A):c.3866+17C>Tnot provided [RCV002695077]likely benign12677351326773513Humanname
155985377CV2030391single nucleotide variantNM_006015.6(ARID1A):c.2733-12C>Tnot provided [RCV002755515]likely benign12676620926766209Humanname
156144029CV2037210single nucleotide variantNM_006015.6(ARID1A):c.2252-14C>Gnot provided [RCV002786623]likely benign12676213826762138Humanname
155910676CV2041287single nucleotide variantNM_006015.6(ARID1A):c.4101+14C>Tnot provided [RCV002771559]likely benign12677391226773912Humanname
156258353CV2041358single nucleotide variantNM_006015.6(ARID1A):c.2162-19T>Cnot provided [RCV002806242]likely benign12676136526761365Humanname
156336278CV2168432single nucleotide variantNM_006015.6(ARID1A):c.4101+19A>Cnot provided [RCV003030041]likely benign12677391726773917Humanname
156206464CV2179353single nucleotide variantNM_006015.6(ARID1A):c.5125-17G>Tnot provided [RCV003024643]likely benign12677900626779006Humanname
156327030CV2184443single nucleotide variantNM_006015.6(ARID1A):c.1803+11C>Tnot provided [RCV003046990]likely benign12673161526731615Humanname
402477533CV2914368single nucleotide variantNM_006015.6(ARID1A):c.5125-17G>Cnot provided [RCV003571677]likely benign12677900626779006Humanname
402486792CV2928424single nucleotide variantNM_006015.6(ARID1A):c.3867-17T>Gnot provided [RCV003572604]likely benign12677356326773563Humanname
402505066CV2947555single nucleotide variantNM_006015.6(ARID1A):c.3407-16G>Tnot provided [RCV003661980]likely benign12677248426772484Humanname
405118379CV2949773single nucleotide variantNM_006015.6(ARID1A):c.1803+20T>Cnot provided [RCV003667171]likely benign12673162426731624Humanname
405231242CV2964597single nucleotide variantNM_006015.6(ARID1A):c.2988+17T>Cnot provided [RCV003682293]likely benign12676658326766583Humanname
405242624CV2967384single nucleotide variantNM_006015.6(ARID1A):c.1351-19A>Gnot provided [RCV003684398]likely benign12673113326731133Humanname
405182297CV3024455single nucleotide variantNM_006015.6(ARID1A):c.3406+15A>Gnot provided [RCV003705657]likely benign12677134126771341Humanname
405181038CV3119913single nucleotide variantNM_006015.6(ARID1A):c.3539+18G>Anot provided [RCV003820006]likely benign12677265026772650Humanname
405214051CV3128334single nucleotide variantNM_006015.6(ARID1A):c.3198+11G>Anot provided [RCV003823758]likely benign12676801026768010Humanname
405126229CV3132769single nucleotide variantNM_006015.6(ARID1A):c.2420-16C>Anot provided [RCV003837932]likely benign12676295726762957Humanname
405091523CV3134504single nucleotide variantNM_006015.6(ARID1A):c.3715+10C>Gnot provided [RCV003834850]likely benign12677299726772997Humanname
405065290CV3139768single nucleotide variantNM_006015.6(ARID1A):c.3406+17C>Tnot provided [RCV003833115]likely benign12677134326771343Humanname
405209837CV3145911single nucleotide variantNM_006015.6(ARID1A):c.3716-10C>Tnot provided [RCV003845641]likely benign12677333626773336Humanname
405074961CV3156114single nucleotide variantNM_006015.6(ARID1A):c.2878+19C>Tnot provided [RCV003851172]likely benign12676638526766385Humanname
404991249CV3176290single nucleotide variantNM_006015.6(ARID1A):c.3716-20G>Anot provided [RCV003881615]likely benign12677332626773326Humanname
404987452CV3179785single nucleotide variantNM_006015.6(ARID1A):c.2252-18G>Anot provided [RCV003881262]likely benign12676213426762134Humanname
405249898CV3180579single nucleotide variantNM_006015.6(ARID1A):c.2251+13G>Anot provided [RCV003869856]likely benign12676148626761486Humanname
405250200CV3180665single nucleotide variantNM_006015.6(ARID1A):c.4994-12G>Tnot provided [RCV003869942]likely benign12677556526775565Humanname
405230473CV3180928single nucleotide variantNM_006015.6(ARID1A):c.4102-16C>Tnot provided [RCV003865166]likely benign12677431326774313Humanname
404983051CV3184277single nucleotide variantNM_006015.6(ARID1A):c.1921-14T>Cnot provided [RCV003880769]likely benign12676084226760842Humanname
408386024CV3415500single nucleotide variantNM_006015.6(ARID1A):c.3199-15G>AIntellectual disability, autosomal dominant 14 [RCV004767601]likely pathogenic12677110426771104Human1name
597906696CV3738818single nucleotide variantNM_006015.6(ARID1A):c.3198+19C>Tnot provided [RCV005073053]likely benign12676801826768018Humanname
597878556CV3744388single nucleotide variantNM_006015.6(ARID1A):c.2878+17C>Tnot provided [RCV005069602]likely benign12676638326766383Humanname
597849872CV3746819single nucleotide variantNM_006015.6(ARID1A):c.1921-11A>Gnot provided [RCV005060446]likely benign12676084526760845Humanname
597872659CV3769752single nucleotide variantNM_006015.6(ARID1A):c.2988+20C>Tnot provided [RCV005108010]likely benign12676658626766586Humanname
597903030CV3800263single nucleotide variantNM_006015.6(ARID1A):c.1138-15C>Tnot provided [RCV005127435]likely benign12672963626729636Humanname
597919982CV3811727single nucleotide variantNM_006015.6(ARID1A):c.4993+18A>Gnot provided [RCV005155558]likely benign12677523826775238Humanname
597932472CV3812739single nucleotide variantNM_006015.6(ARID1A):c.3407-20A>Tnot provided [RCV005157271]likely benign12677248026772480Humanname
597831524CV3830805single nucleotide variantNM_006015.6(ARID1A):c.4005-15C>Gnot provided [RCV005170203]likely benign12677378726773787Humanname
13215043CV427779single nucleotide variantNM_006015.6(ARID1A):c.1351-10T>Cnot provided [RCV005091080]|not specified [RCV000502008]likely benign12673114226731142Humanname
150407972CV1175885single nucleotide variantNM_006015.6(ARID1A):c.2733-290A>Gnot provided [RCV001545743]likely benign12676593126765931Humanname
150422578CV1179244duplicationNM_006015.6(ARID1A):c.3199-216dupnot provided [RCV001552832]likely benign12677090226770903Humanname
150423944CV1182908single nucleotide variantNM_006015.6(ARID1A):c.2732+160G>Anot provided [RCV001556001]likely benign12676344526763445Humanname
150421226CV1196602single nucleotide variantNM_006015.6(ARID1A):c.3716-149C>Anot provided [RCV001577945]likely benign12677319726773197Humanname
150462334CV1206575deletionNM_006015.6(ARID1A):c.2419+298delnot provided [RCV001586976]likely benign12676261726762617Humanname
150481374CV1209781single nucleotide variantNM_006015.6(ARID1A):c.5124+123C>Gnot provided [RCV001590478]likely benign12677583026775830Humanname
150487340CV1251507single nucleotide variantNM_006015.6(ARID1A):c.1921-158T>Anot provided [RCV001674178]benign12676069826760698Humanname
150487837CV1262800single nucleotide variantNM_006015.6(ARID1A):c.1350+289G>Anot provided [RCV001687198]benign12673015226730152Humanname
150473422CV1262900duplicationNM_006015.6(ARID1A):c.1921-159dupnot provided [RCV001684716]benign12676068626760687Humanname
150495495CV1272646single nucleotide variantNM_006015.6(ARID1A):c.2252-282A>Gnot provided [RCV001688569]benign12676187026761870Humanname
150442029CV1287658single nucleotide variantNM_006015.6(ARID1A):c.2989-125A>Gnot provided [RCV001725378]benign12676766526767665Humanname
152037394CV1669112single nucleotide variantNM_006015.6(ARID1A):c.4993+174C>Tnot provided [RCV002224164]uncertain significance12677539426775394Humanname
15144711CV732352single nucleotide variantNM_006015.6(ARID1A):c.24C>G (p.Ala8=)not provided [RCV000900047]likely benign12669642726696427Humanname
150406293CV1189609single nucleotide variantNM_006015.6(ARID1A):c.2T>C (p.Met1Thr)not provided [RCV001564646]uncertain significance12669640526696405Humanname
150414698CV1196600microsatelliteNM_006015.6(ARID1A):c.1803+274TTTTA[6]not provided [RCV001575077]likely benign12673187726731878Humanname
150532834CV1310889single nucleotide variantNM_006015.6(ARID1A):c.66G>C (p.Ser22=)not provided [RCV001776623]likely benign12669646926696469Humanname
152137015CV1537951single nucleotide variantNM_006015.6(ARID1A):c.72G>C (p.Leu24=)not provided [RCV002177556]likely benign12669647526696475Humanname
153348360CV1695400deletionNM_006015.6(ARID1A):c.1920+3_1920+6delIntellectual disability, autosomal dominant 14 [RCV002279913]likely pathogenic12673279326732796Human1name
155642065CV1707230single nucleotide variantNM_006015.6(ARID1A):c.4G>A (p.Ala2Thr)not provided [RCV002288160]uncertain significance12669640726696407Humanname
155913804CV1990312single nucleotide variantNM_006015.6(ARID1A):c.75G>A (p.Lys25=)not provided [RCV002614179]benign12669647826696478Humanname
156219882CV2080808single nucleotide variantNM_006015.6(ARID1A):c.2T>G (p.Met1Arg)not provided [RCV002853169]uncertain significance12669640526696405Humanname
402497172CV2875453single nucleotide variantNM_006015.6(ARID1A):c.36C>T (p.Ser12=)ARID1A-related disorder [RCV003901116]|not provided [RCV003545536]benign|likely benign12669643926696439Human1name , alternate_id
402487942CV2941413single nucleotide variantNM_006015.6(ARID1A):c.96G>A (p.Arg32=)not provided [RCV003660204]likely benign12669649926696499Humanname
405128221CV3054320single nucleotide variantNM_006015.6(ARID1A):c.60G>A (p.Pro20=)not provided [RCV003724579]likely benign12669646326696463Humanname
405258958CV3197908single nucleotide variantNM_006015.6(ARID1A):c.81C>T (p.Ala27=)ARID1A-related disorder [RCV003893831]likely benign12669648426696484Humanname , trait , alternate_id
597900266CV3771199single nucleotide variantNM_006015.6(ARID1A):c.42C>T (p.Gly14=)not provided [RCV005112164]likely benign12669644526696445Humanname
150493254CV1238633single nucleotide variantNM_006015.6(ARID1A):c.162C>T (p.Ala54=)ARID1A-related disorder [RCV003941056]|Intellectual disability, autosomal dominant 14 [RCV002260262]|not provided [RCV001655177]|not specified [RCV003151344]benign|likely benign12669656526696565Human1name , alternate_id
150556482CV1303169single nucleotide variantNM_006015.6(ARID1A):c.22G>A (p.Ala8Thr)Intellectual disability, autosomal dominant 14 [RCV005415619]|not provided [RCV001774362]uncertain significance12669642526696425Human1name
156413593CV1901004single nucleotide variantNM_006015.6(ARID1A):c.261A>C (p.Gly87=)not provided [RCV002588210]likely benign12669666426696664Humanname
156252788CV1960476single nucleotide variantNM_006015.6(ARID1A):c.207G>A (p.Leu69=)not provided [RCV002576595]likely benign12669661026696610Humanname
156397399CV1985340single nucleotide variantNM_006015.6(ARID1A):c.219G>A (p.Leu73=)not provided [RCV002635638]likely benign12669662226696622Humanname
156328950CV1990807single nucleotide variantNM_006015.6(ARID1A):c.213G>A (p.Lys71=)not provided [RCV002630818]likely benign12669661626696616Humanname
405209667CV2871440single nucleotide variantNM_006015.6(ARID1A):c.294G>T (p.Pro98=)not provided [RCV003552411]likely benign12669669726696697Humanname
405237169CV2881061single nucleotide variantNM_006015.6(ARID1A):c.261A>G (p.Gly87=)not provided [RCV003556624]likely benign12669666426696664Humanname
405243420CV2974896single nucleotide variantNM_006015.6(ARID1A):c.126G>A (p.Ala42=)not provided [RCV003684526]likely benign12669652926696529Humanname
405127876CV3050127single nucleotide variantNM_006015.6(ARID1A):c.123G>A (p.Ala41=)not provided [RCV003724548]benign12669652626696526Humanname
405244707CV3050749single nucleotide variantNM_006015.6(ARID1A):c.168G>A (p.Gln56=)not provided [RCV003720066]benign12669657126696571Humanname
405140174CV3125796single nucleotide variantNM_006015.6(ARID1A):c.138G>A (p.Glu46=)not provided [RCV003816711]likely benign12669654126696541Humanname
405178229CV3148682single nucleotide variantNM_006015.6(ARID1A):c.13G>A (p.Val5Ile)not provided [RCV003858460]uncertain significance12669641626696416Humanname
405157135CV3152460single nucleotide variantNM_006015.6(ARID1A):c.297C>T (p.Asp99=)not provided [RCV003840387]likely benign12669670026696700Humanname
405141563CV3155335single nucleotide variantNM_006015.6(ARID1A):c.108G>T (p.Gly36=)not provided [RCV003855573]likely benign12669651126696511Humanname
408379032CV3504027single nucleotide variantNM_006015.6(ARID1A):c.279G>A (p.Gly93=)ARID1A-related disorder [RCV004728234]likely benign12669668226696682Humanname , trait , alternate_id
408387544CV3518888single nucleotide variantNM_006015.6(ARID1A):c.144G>A (p.Gly48=)not provided [RCV004761207]uncertain significance12669654726696547Humanname
12839306CV364984single nucleotide variantNM_006015.6(ARID1A):c.111C>T (p.Gly37=)not provided [RCV002522388]|not specified [RCV000428570]benign|likely benign12669651426696514Humanname
597944513CV3755005single nucleotide variantNM_006015.6(ARID1A):c.159C>T (p.Ala53=)not provided [RCV005078194]likely benign12669656226696562Humanname
597876684CV3766675single nucleotide variantNM_006015.6(ARID1A):c.234G>A (p.Glu78=)not provided [RCV005108615]likely benign12669663726696637Humanname
597975991CV3829013single nucleotide variantNM_006015.6(ARID1A):c.222G>A (p.Gln74=)not provided [RCV005169462]likely benign12669662526696625Humanname
13216433CV427763single nucleotide variantNM_006015.6(ARID1A):c.135C>T (p.Ala45=)Intellectual disability, autosomal dominant 14 [RCV002259970]|not provided [RCV001613318]|not specified [RCV000503755]benign|likely benign12669653826696538Human1name
13215116CV427767single nucleotide variantNM_006015.6(ARID1A):c.264C>T (p.Ala88=)ARID1A-related disorder [RCV003932818]|not provided [RCV002524153]|not specified [RCV000502110]benign|likely benign12669666726696667Human1name , alternate_id
126731160CV1000198single nucleotide variantNM_006015.6(ARID1A):c.357G>A (p.Glu119=)not provided [RCV001310514]likely benign12669676026696760Humanname
150336343CV1164866single nucleotide variantNM_006015.6(ARID1A):c.759C>G (p.Pro253=)Intellectual disability, autosomal dominant 14 [RCV002260175]|not provided [RCV001530802]benign|likely benign12669716226697162Human1name
150335694CV1165514single nucleotide variantNM_006015.6(ARID1A):c.480C>T (p.Ala160=)not provided [RCV001531619]benign|likely benign12669688326696883Humanname
150331618CV1170712single nucleotide variantNM_006015.6(ARID1A):c.456A>G (p.Gln152=)ARID1A-related disorder [RCV003921199]|not provided [RCV001538706]benign|likely benign|conflicting interpretations of pathogenicity12669685926696859Human1name , alternate_id
150408644CV1175884single nucleotide variantNM_006015.6(ARID1A):c.405T>G (p.Pro135=)ARID1A-related disorder [RCV003966168]|not provided [RCV001545977]benign|likely benign12669680826696808Human1name , alternate_id
150425904CV1182904single nucleotide variantNM_006015.6(ARID1A):c.591G>T (p.Gly197=)not provided [RCV001558640]likely benign12669699426696994Humanname
150425917CV1182905single nucleotide variantNM_006015.6(ARID1A):c.927G>A (p.Gln309=)not provided [RCV001558656]benign|likely benign12669733026697330Humanname
150466141CV1201195single nucleotide variantNM_006015.6(ARID1A):c.372C>T (p.Gly124=)not provided [RCV001587675]benign|likely benign12669677526696775Humanname
150439730CV1201589single nucleotide variantNM_006015.6(ARID1A):c.375T>C (p.Gly125=)not provided [RCV001583401]likely benign12669677826696778Humanname
150434459CV1230793single nucleotide variantNM_006015.6(ARID1A):c.393G>C (p.Gly131=)Intellectual disability, autosomal dominant 14 [RCV002260239]|not provided [RCV001643740]benign12669679626696796Human1name
150482673CV1247492single nucleotide variantNM_006015.6(ARID1A):c.837C>T (p.Pro279=)not provided [RCV001673318]benign|likely benign12669724026697240Humanname
150484442CV1263179single nucleotide variantNM_006015.6(ARID1A):c.504C>T (p.Val168=)not provided [RCV001686579]benign12669690726696907Humanname
150547909CV1303866single nucleotide variantNM_006015.6(ARID1A):c.579G>A (p.Glu193=)not provided [RCV001763969]uncertain significance12669698226696982Humanname
151354628CV1327695single nucleotide variantNM_006015.6(ARID1A):c.550C>T (p.Leu184=)not specified [RCV001819170]uncertain significance12669695326696953Humanname
152090084CV1535839single nucleotide variantNM_006015.6(ARID1A):c.541C>T (p.Leu181=)not provided [RCV002150478]likely benign12669694426696944Humanname
152158987CV1544314single nucleotide variantNM_006015.6(ARID1A):c.466C>A (p.Arg156=)not provided [RCV002122858]benign12669686926696869Humanname
152097133CV1587050single nucleotide variantNM_006015.6(ARID1A):c.582C>T (p.Pro194=)not provided [RCV002078501]likely benign12669698526696985Humanname
152058949CV1644665single nucleotide variantNM_006015.6(ARID1A):c.900G>A (p.Thr300=)not provided [RCV002167770]likely benign12669730326697303Humanname
152105028CV1658880single nucleotide variantNM_006015.6(ARID1A):c.624C>A (p.Pro208=)not provided [RCV002152287]likely benign12669702726697027Humanname
155267090CV1696495single nucleotide variantNM_006015.6(ARID1A):c.945C>T (p.Asp315=)not provided [RCV002281353]conflicting interpretations of pathogenicity|uncertain significance12669734826697348Humanname
155688229CV1803816single nucleotide variantNM_006015.6(ARID1A):c.594C>T (p.Pro198=)Inborn genetic diseases [RCV002355970]|not provided [RCV005058451]likely benign12669699726696997Human1name
156315493CV1907333single nucleotide variantNM_006015.6(ARID1A):c.897C>T (p.Leu299=)not provided [RCV003088696]likely benign12669730026697300Humanname
156077080CV1912461single nucleotide variantNM_006015.6(ARID1A):c.810C>T (p.Arg270=)not provided [RCV002591453]likely benign12669721326697213Humanname
156177193CV1953205single nucleotide variantNM_006015.6(ARID1A):c.450C>T (p.Phe150=)not provided [RCV002574000]likely benign12669685326696853Humanname
156331973CV1954163single nucleotide variantNM_006015.6(ARID1A):c.540C>T (p.Gly180=)not provided [RCV002580049]benign12669694326696943Humanname
156417559CV1967030single nucleotide variantNM_006015.6(ARID1A):c.906C>G (p.Pro302=)not provided [RCV002590254]likely benign12669730926697309Humanname
156197765CV1967862single nucleotide variantNM_006015.6(ARID1A):c.366C>T (p.Gly122=)not provided [RCV002625625]likely benign12669676926696769Humanname
156066465CV1971723deletionNM_006015.6(ARID1A):c.2419+10_2419+21delARID1A-related disorder [RCV003936280]|not provided [RCV002621115]likely benign|uncertain significance12676232926762340Human1name , alternate_id
156266275CV1973879single nucleotide variantNM_006015.6(ARID1A):c.720C>G (p.Gly240=)not provided [RCV002597944]likely benign12669712326697123Humanname
156095707CV1980909single nucleotide variantNM_006015.6(ARID1A):c.906C>A (p.Pro302=)not provided [RCV002622021]likely benign12669730926697309Humanname
156343443CV1981680single nucleotide variantNM_006015.6(ARID1A):c.666C>T (p.Tyr222=)not provided [RCV002631549]likely benign12669706926697069Humanname
156226560CV1991568single nucleotide variantNM_006015.6(ARID1A):c.321G>A (p.Ala107=)not provided [RCV002626639]likely benign12669672426696724Humanname
156033460CV2002514single nucleotide variantNM_006015.6(ARID1A):c.879C>A (p.Pro293=)not provided [RCV002658758]likely benign12669728226697282Humanname
156268922CV2008066single nucleotide variantNM_006015.6(ARID1A):c.95G>A (p.Arg32Gln)not provided [RCV002714912]uncertain significance12669649826696498Humanname
156266379CV2030482single nucleotide variantNM_006015.6(ARID1A):c.711C>T (p.Gly237=)not provided [RCV002746486]likely benign12669711426697114Humanname
156062532CV2065439single nucleotide variantNM_006015.6(ARID1A):c.699C>G (p.Ser233=)not provided [RCV002846823]likely benign12669710226697102Humanname
156189947CV2066336single nucleotide variantNM_006015.6(ARID1A):c.429G>A (p.Leu143=)not provided [RCV002828578]likely benign12669683226696832Humanname
156133236CV2085059single nucleotide variantNM_006015.6(ARID1A):c.489C>T (p.Ala163=)not provided [RCV002871713]likely benign12669689226696892Humanname
156233956CV2118321single nucleotide variantNM_006015.6(ARID1A):c.873C>T (p.Ala291=)not provided [RCV002958619]likely benign12669727626697276Humanname
156225373CV2121779single nucleotide variantNM_006015.6(ARID1A):c.483C>T (p.Val161=)not provided [RCV002958304]likely benign12669688626696886Humanname
156097999CV2152843single nucleotide variantNM_006015.6(ARID1A):c.780C>A (p.Ser260=)not provided [RCV003020941]likely benign12669718326697183Humanname
155954334CV2166317single nucleotide variantNM_006015.6(ARID1A):c.691C>T (p.Leu231=)not provided [RCV003015018]likely benign12669709426697094Humanname
155912623CV2245596single nucleotide variantNM_006015.6(ARID1A):c.91C>G (p.Gln31Glu)Inborn genetic diseases [RCV002771769]uncertain significance12669649426696494Human1name
243053708CV2416379single nucleotide variantNM_006015.6(ARID1A):c.741C>G (p.Ala247=)not provided [RCV003149440]uncertain significance12669714426697144Humanname
329351192CV2476373single nucleotide variantNM_006015.6(ARID1A):c.915C>T (p.Ala305=)not provided [RCV003222605]benign|likely benign12669731826697318Humanname
401798395CV2741498deletionNM_006015.6(ARID1A):c.284del (p.Gly95fs)Intellectual disability, autosomal dominant 14 [RCV003322717]pathogenic|likely pathogenic12669668626696686Human1name
401935492CV2812510single nucleotide variantNM_006015.6(ARID1A):c.369C>T (p.Gly123=)not provided [RCV003412948]likely benign12669677226696772Humanname
401935495CV2812513single nucleotide variantNM_006015.6(ARID1A):c.846C>T (p.Ala282=)not provided [RCV003412951]likely benign12669724926697249Humanname
401915038CV2830938single nucleotide variantNM_006015.6(ARID1A):c.819C>T (p.Ala273=)not provided [RCV003442677]uncertain significance12669722226697222Humanname
405238613CV2889156single nucleotide variantNM_006015.6(ARID1A):c.474G>C (p.Pro158=)ARID1A-related disorder [RCV003946715]|not provided [RCV003556893]likely benign12669687726696877Human1name , alternate_id
405129457CV2893374single nucleotide variantNM_006015.6(ARID1A):c.501C>T (p.Ala167=)ARID1A-related disorder [RCV003946721]|not provided [RCV003559819]benign|likely benign12669690426696904Human1name , alternate_id
405121796CV2954042single nucleotide variantNM_006015.6(ARID1A):c.906C>T (p.Pro302=)not provided [RCV003667522]likely benign12669730926697309Humanname
405233439CV2975361single nucleotide variantNM_006015.6(ARID1A):c.858T>A (p.Thr286=)not provided [RCV003682635]likely benign12669726126697261Humanname
405155444CV3028088single nucleotide variantNM_006015.6(ARID1A):c.684C>A (p.Ala228=)not provided [RCV003703580]likely benign12669708726697087Humanname
405119593CV3030692single nucleotide variantNM_006015.6(ARID1A):c.393G>T (p.Gly131=)not provided [RCV003700614]likely benign12669679626696796Humanname
405138916CV3045355single nucleotide variantNM_006015.6(ARID1A):c.882C>T (p.Thr294=)not provided [RCV003725478]|not specified [RCV004783103]likely benign12669728526697285Humanname
405211227CV3059155single nucleotide variantNM_006015.6(ARID1A):c.546A>C (p.Ala182=)not provided [RCV003732039]likely benign12669694926696949Humanname
405132195CV3115169single nucleotide variantNM_006015.6(ARID1A):c.360G>A (p.Pro120=)not provided [RCV003816014]benign12669676326696763Humanname
405087852CV3122135single nucleotide variantNM_006015.6(ARID1A):c.432G>A (p.Pro144=)not provided [RCV003810890]benign12669683526696835Humanname
404997958CV3123853single nucleotide variantNM_006015.6(ARID1A):c.621C>T (p.Phe207=)not provided [RCV003827760]likely benign12669702426697024Humanname
405214554CV3124461single nucleotide variantNM_006015.6(ARID1A):c.702G>A (p.Pro234=)not provided [RCV003823823]likely benign12669710526697105Humanname
405196537CV3128744single nucleotide variantNM_006015.6(ARID1A):c.696C>T (p.Ser232=)not provided [RCV003821482]likely benign12669709926697099Humanname
405031908CV3130279single nucleotide variantNM_006015.6(ARID1A):c.942C>T (p.Gly314=)not provided [RCV003830686]likely benign12669734526697345Humanname
405111473CV3137254single nucleotide variantNM_006015.6(ARID1A):c.324C>T (p.Gly108=)not provided [RCV003836217]benign12669672726696727Humanname
405197759CV3146783single nucleotide variantNM_006015.6(ARID1A):c.816G>C (p.Gly272=)not provided [RCV003844138]likely benign12669721926697219Humanname
405087282CV3167447single nucleotide variantNM_006015.6(ARID1A):c.777C>T (p.Ala259=)not provided [RCV003852029]benign12669718026697180Humanname
405195641CV3168061single nucleotide variantNM_006015.6(ARID1A):c.363C>T (p.Pro121=)not provided [RCV003860193]benign12669676626696766Humanname
402465891CV3177372single nucleotide variantNM_006015.6(ARID1A):c.597G>A (p.Gln199=)not provided [RCV003873003]likely benign12669700026697000Humanname
405274510CV3208873single nucleotide variantNM_006015.6(ARID1A):c.795C>T (p.Ser265=)ARID1A-related disorder [RCV003951668]|not provided [RCV005064837]likely benign12669719826697198Human1name , alternate_id
407474935CV3483113single nucleotide variantNM_006015.6(ARID1A):c.38T>G (p.Leu13Arg)Inborn genetic diseases [RCV004663122]uncertain significance12669644126696441Human1name
408375118CV3510069single nucleotide variantNM_006015.6(ARID1A):c.936C>A (p.Pro312=)ARID1A-related disorder [RCV004747810]likely benign12669733926697339Humanname , trait , alternate_id
596925925CV3530631single nucleotide variantNM_006015.6(ARID1A):c.85C>A (p.Gln29Lys)not provided [RCV004778216]uncertain significance12669648826696488Humanname
596921867CV3535495single nucleotide variantNM_006015.6(ARID1A):c.88C>T (p.Gln30Ter)Intellectual disability, autosomal dominant 14 [RCV004785050]likely pathogenic12669649126696491Human1name
597851465CV3737536single nucleotide variantNM_006015.6(ARID1A):c.879C>G (p.Pro293=)not provided [RCV005066309]benign12669728226697282Humanname
597898017CV3740776single nucleotide variantNM_006015.6(ARID1A):c.762C>T (p.Ser254=)not provided [RCV005071939]likely benign12669716526697165Humanname
597849461CV3746585single nucleotide variantNM_006015.6(ARID1A):c.669C>T (p.Pro223=)not provided [RCV005060404]likely benign12669707226697072Humanname
597944994CV3758471single nucleotide variantNM_006015.6(ARID1A):c.570G>A (p.Gly190=)not provided [RCV005078290]likely benign12669697326696973Humanname
597891088CV3762952single nucleotide variantNM_006015.6(ARID1A):c.723C>T (p.Ser241=)not provided [RCV005110725]likely benign12669712626697126Humanname
597868944CV3784017single nucleotide variantNM_006015.6(ARID1A):c.834C>T (p.Gly278=)not provided [RCV005122321]likely benign12669723726697237Humanname
597953115CV3815914single nucleotide variantNM_006015.6(ARID1A):c.298C>T (p.Leu100=)not provided [RCV005161666]likely benign12669670126696701Humanname
597973879CV3820737single nucleotide variantNM_006015.6(ARID1A):c.852G>C (p.Gly284=)not provided [RCV005168254]likely benign12669725526697255Humanname
597843244CV3827278single nucleotide variantNM_006015.6(ARID1A):c.930C>T (p.Gly310=)not provided [RCV005172549]likely benign12669733326697333Humanname
597976185CV3829196single nucleotide variantNM_006015.6(ARID1A):c.921C>A (p.Gly307=)not provided [RCV005169645]benign12669732426697324Humanname
597939821CV3836540single nucleotide variantNM_006015.6(ARID1A):c.837C>G (p.Pro279=)not provided [RCV005187561]likely benign12669724026697240Humanname
597948794CV3848749single nucleotide variantNM_006015.6(ARID1A):c.870C>T (p.Thr290=)not provided [RCV005189686]likely benign12669727326697273Humanname
597866228CV3857771single nucleotide variantNM_006015.6(ARID1A):c.495G>C (p.Ala165=)not provided [RCV005196718]likely benign12669689826696898Humanname
597918177CV3861494single nucleotide variantNM_006015.6(ARID1A):c.999C>T (p.Ala333=)not provided [RCV005204651]likely benign12669740226697402Humanname
617153823CV4016911single nucleotide variantNM_006015.6(ARID1A):c.780C>T (p.Ser260=)Intellectual disability, autosomal dominant 14 [RCV005416008]uncertain significance12669718326697183Human1name
13213819CV427769single nucleotide variantNM_006015.6(ARID1A):c.318C>T (p.Asn106=)Intellectual disability, autosomal dominant 14 [RCV002259972]|not provided [RCV001712459]|not specified [RCV000500481]benign|likely benign12669672126696721Human1name
13216630CV427773single nucleotide variantNM_006015.6(ARID1A):c.717G>T (p.Pro239=)not specified [RCV000504000]uncertain significance12669712026697120Humanname
13214298CV427775single nucleotide variantNM_006015.6(ARID1A):c.843G>A (p.Ala281=)ARID1A-related disorder [RCV004745426]|not provided [RCV003558413]|not specified [RCV000501090]likely benign12669724626697246Human1name , alternate_id
13215206CV427776single nucleotide variantNM_006015.6(ARID1A):c.879C>T (p.Pro293=)not specified [RCV000502212]uncertain significance12669728226697282Humanname
13445792CV437801single nucleotide variantNM_006015.6(ARID1A):c.741C>T (p.Ala247=)not provided [RCV000512864]uncertain significance12669714426697144Humanname
13831982CV582479single nucleotide variantNM_006015.6(ARID1A):c.67G>T (p.Glu23Ter)ARID1A-related disorder [RCV004723138]|not provided [RCV000722667]likely pathogenic|uncertain significance12669647026696470Human1name , alternate_id
28880074CV858938single nucleotide variantNM_006015.6(ARID1A):c.55C>G (p.Pro19Ala)not provided [RCV001090915]uncertain significance12669645826696458Humanname
126743344CV1015705single nucleotide variantNM_006015.6(ARID1A):c.289G>A (p.Glu97Lys)Intellectual disability, autosomal dominant 14 [RCV001330180]uncertain significance12669669226696692Human1name
126730579CV1019350single nucleotide variantNM_006015.6(ARID1A):c.197C>G (p.Pro66Arg)Intellectual disability, autosomal dominant 14 [RCV001333477]uncertain significance12669660026696600Human1name
127244207CV1053728single nucleotide variantNM_006015.6(ARID1A):c.175G>T (p.Glu59Ter)Non-immune hydrops fetalis [RCV001376026]pathogenic12669657826696578Human2name
127261672CV1087300single nucleotide variantNM_006015.6(ARID1A):c.122C>T (p.Ala41Val)Coffin-Siris syndrome [RCV005361604]|Intellectual disability, autosomal dominant 14 [RCV001420572]|not provided [RCV003727995]benign|uncertain significance12669652526696525Human2name
150337901CV1166615single nucleotide variantNM_006015.6(ARID1A):c.166C>T (p.Gln56Ter)ARID1A-related BAFopathy [RCV001533055]|Intellectual disability, autosomal dominant 14 [RCV005225419]pathogenic12669656926696569Human1name
150337575CV1170713single nucleotide variantNM_006015.6(ARID1A):c.2298G>A (p.Gln766=)ARID1A-related disorder [RCV003940988]|not provided [RCV001541738]benign|likely benign12676219826762198Human1name , alternate_id
150425836CV1182907single nucleotide variantNM_006015.6(ARID1A):c.2229A>G (p.Gln743=)not provided [RCV001558536]likely benign12676145126761451Humanname
150453056CV1203724single nucleotide variantNM_006015.6(ARID1A):c.269G>C (p.Ser90Thr)Intellectual disability, autosomal dominant 14 [RCV001591680]uncertain significance12669667226696672Human1name
150457738CV1219657single nucleotide variantNM_006015.6(ARID1A):c.1266C>T (p.Tyr422=)Intellectual disability, autosomal dominant 14 [RCV002260232]|not provided [RCV001612873]benign|likely benign12672977926729779Human1name
150507681CV1244627single nucleotide variantNM_006015.6(ARID1A):c.1380C>T (p.Ser460=)not provided [RCV001658876]likely benign12673118126731181Humanname
150451723CV1276632single nucleotide variantNM_006015.6(ARID1A):c.1716G>A (p.Thr572=)ARID1A-related disorder [RCV003956334]|Intellectual disability, autosomal dominant 14 [RCV002260366]|not provided [RCV001708421]benign|likely benign12673151726731517Human1name , alternate_id
150551421CV1297357single nucleotide variantNM_006015.6(ARID1A):c.281C>T (p.Pro94Leu)not provided [RCV001767039]conflicting interpretations of pathogenicity|uncertain significance12669668426696684Humanname
150548303CV1316207single nucleotide variantNM_006015.6(ARID1A):c.2091G>A (p.Pro697=)Inborn genetic diseases [RCV004040819]|not provided [RCV001786008]likely benign12676102626761026Human1name
151356121CV1328885single nucleotide variantNM_006015.6(ARID1A):c.1440G>A (p.Gln480=)not specified [RCV001822474]uncertain significance12673124126731241Humanname
151356244CV1329008single nucleotide variantNM_006015.6(ARID1A):c.110G>A (p.Gly37Asp)not provided [RCV003669247]|not specified [RCV001822597]benign|uncertain significance12669651326696513Humanname
151782695CV1350088single nucleotide variantNM_006015.6(ARID1A):c.1833G>A (p.Gln611=)not provided [RCV001989282]likely benign|uncertain significance12673270526732705Humanname
151773142CV1368693single nucleotide variantNM_006015.6(ARID1A):c.2077C>A (p.Arg693=)not provided [RCV001950358]benign|uncertain significance12676101226761012Humanname
151743752CV1401442single nucleotide variantNM_006015.6(ARID1A):c.281C>A (p.Pro94His)not provided [RCV001947366]uncertain significance12669668426696684Humanname
151771572CV1481896single nucleotide variantNM_006015.6(ARID1A):c.209G>T (p.Gly70Val)not provided [RCV002008892]uncertain significance12669661226696612Humanname
152175541CV1526877single nucleotide variantNM_006015.6(ARID1A):c.2319G>A (p.Pro773=)not provided [RCV002163676]likely benign12676221926762219Humanname
152095997CV1583312single nucleotide variantNM_006015.6(ARID1A):c.1935A>G (p.Ser645=)not provided [RCV002132637]likely benign12676087026760870Humanname
152025911CV1627709single nucleotide variantNM_006015.6(ARID1A):c.1281G>A (p.Pro427=)not provided [RCV002104371]likely benign12672979426729794Humanname
152170352CV1663329single nucleotide variantNM_006015.6(ARID1A):c.1647C>A (p.Pro549=)not provided [RCV002183122]likely benign12673144826731448Humanname
152156519CV1668554single nucleotide variantNM_006015.6(ARID1A):c.2109C>T (p.Pro703=)not provided [RCV002222836]likely benign12676104426761044Humanname
153301183CV1689030single nucleotide variantNM_006015.6(ARID1A):c.242G>A (p.Gly81Glu)Intellectual disability, autosomal dominant 14 [RCV002266758]uncertain significance12669664526696645Human1name
155642400CV1706244single nucleotide variantNM_006015.6(ARID1A):c.185C>T (p.Ala62Val)not provided [RCV002287107]uncertain significance12669658826696588Humanname
155644926CV1710468single nucleotide variantNM_006015.6(ARID1A):c.292C>T (p.Pro98Ser)not provided [RCV002293764]uncertain significance12669669526696695Humanname
155741699CV1770499deletionNM_006015.6(ARID1A):c.437del (p.Pro146fs)Hepatocellular carcinoma [RCV002302724]pathogenic12669683626696836Human1name
155705652CV1775016single nucleotide variantNM_006015.6(ARID1A):c.130G>C (p.Ala44Pro)not provided [RCV002300227]uncertain significance12669653326696533Humanname
155744828CV1820680duplicationNM_006015.6(ARID1A):c.854dup (p.Thr286fs)Inborn genetic diseases [RCV002414465]likely pathogenic12669725226697253Human1name
155702827CV1825403deletionNM_006015.6(ARID1A):c.971del (p.Gly324fs)Inborn genetic diseases [RCV002376713]likely pathogenic12669737026697370Human1name
156410847CV1882794single nucleotide variantNM_006015.6(ARID1A):c.2328T>C (p.Pro776=)ARID1A-related disorder [RCV003943756]|not provided [RCV003072229]benign|likely benign12676222826762228Human1name , alternate_id
156357587CV1891221single nucleotide variantNM_006015.6(ARID1A):c.1734G>A (p.Ala578=)ARID1A-related disorder [RCV003943773]|not provided [RCV003091464]likely benign12673153526731535Human1name , alternate_id
156411728CV1893918single nucleotide variantNM_006015.6(ARID1A):c.1764G>A (p.Gln588=)not provided [RCV003072601]likely benign12673156526731565Humanname
156139751CV1898456single nucleotide variantNM_006015.6(ARID1A):c.2763G>A (p.Gly921=)not provided [RCV003082158]benign12676625126766251Humanname
156377648CV1906675single nucleotide variantNM_006015.6(ARID1A):c.1092C>T (p.Pro364=)not provided [RCV003093006]benign12669749526697495Humanname
156209989CV1909685single nucleotide variantNM_006015.6(ARID1A):c.1791C>T (p.Phe597=)ARID1A-related disorder [RCV003973687]|not provided [RCV002596026]benign|likely benign12673159226731592Human1name , alternate_id
156092214CV1909844single nucleotide variantNM_006015.6(ARID1A):c.2199G>A (p.Ser733=)not provided [RCV002591953]benign12676142126761421Humanname
156213092CV1914134single nucleotide variantNM_006015.6(ARID1A):c.1641C>T (p.Ser547=)not provided [RCV002596144]benign12673144226731442Humanname
156408846CV1922072single nucleotide variantNM_006015.6(ARID1A):c.148A>G (p.Met50Val)ARID1A-related disorder [RCV003946320]|not provided [RCV002607369]benign|likely benign12669655126696551Human1name , alternate_id
156444161CV1937685single nucleotide variantNM_006015.6(ARID1A):c.1707A>G (p.Ala569=)not provided [RCV003115082]benign12673150826731508Humanname
156436834CV1940419single nucleotide variantNM_006015.6(ARID1A):c.167A>T (p.Gln56Leu)not provided [RCV003106358]benign12669657026696570Humanname
156445227CV1945227single nucleotide variantNM_006015.6(ARID1A):c.1056G>C (p.Gly352=)not provided [RCV003116167]likely benign12669745926697459Humanname
156084942CV1956502single nucleotide variantNM_006015.6(ARID1A):c.2301C>T (p.Pro767=)not provided [RCV002570030]likely benign12676220126762201Humanname
156408439CV1957843single nucleotide variantNM_006015.6(ARID1A):c.1593G>A (p.Pro531=)not provided [RCV002586518]likely benign12673139426731394Humanname
156408513CV1957871single nucleotide variantNM_006015.6(ARID1A):c.2067G>T (p.Leu689=)not provided [RCV002586537]likely benign12676100226761002Humanname
156376316CV1960412single nucleotide variantNM_006015.6(ARID1A):c.1995G>A (p.Gly665=)not provided [RCV002582830]likely benign12676093026760930Humanname
156413309CV1969024single nucleotide variantNM_006015.6(ARID1A):c.2715C>T (p.Ala905=)not provided [RCV002608800]likely benign12676326826763268Humanname
156416233CV1976473single nucleotide variantNM_006015.6(ARID1A):c.1107C>A (p.Gly369=)not provided [RCV002589594]likely benign12669751026697510Humanname
155985328CV1979564single nucleotide variantNM_006015.6(ARID1A):c.116C>T (p.Ala39Val)not provided [RCV002617782]benign12669651926696519Humanname
156397562CV1985358single nucleotide variantNM_006015.6(ARID1A):c.2067G>A (p.Leu689=)not provided [RCV002635653]likely benign12676100226761002Humanname
156293008CV2009842single nucleotide variantNM_006015.6(ARID1A):c.1710C>T (p.Pro570=)not provided [RCV002715731]likely benign12673151126731511Humanname
156084318CV2012141single nucleotide variantNM_006015.6(ARID1A):c.2697C>T (p.Val899=)not provided [RCV002706094]likely benign12676325026763250Humanname
156381205CV2060819single nucleotide variantNM_006015.6(ARID1A):c.193C>T (p.Pro65Ser)not provided [RCV002815098]uncertain significance12669659626696596Humanname
10406617CV206790deletionNM_006015.6(ARID1A):c.394del (p.Val132fs)Intellectual disability, autosomal dominant 14 [RCV000193411]pathogenic12669679426696794Human1name
10405491CV206792single nucleotide variantNM_006015.6(ARID1A):c.1329C>T (p.Gly443=)not provided [RCV002517912]|not specified [RCV000194282]likely benign|uncertain significance12672984226729842Humanname
155980569CV2073936single nucleotide variantNM_006015.6(ARID1A):c.2280C>T (p.Pro760=)not provided [RCV002842496]likely benign12676218026762180Humanname
156219218CV2087561single nucleotide variantNM_006015.6(ARID1A):c.2448T>C (p.Asn816=)not provided [RCV002875801]likely benign12676300126763001Humanname
156299339CV2119411single nucleotide variantNM_006015.6(ARID1A):c.2799G>T (p.Gly933=)not provided [RCV002962067]likely benign12676628726766287Humanname
156161841CV2135398single nucleotide variantNM_006015.6(ARID1A):c.2673C>T (p.Asn891=)not provided [RCV002983035]likely benign12676322626763226Humanname
156216188CV2136052single nucleotide variantNM_006015.6(ARID1A):c.1206G>A (p.Ser402=)not provided [RCV003007190]likely benign12672971926729719Humanname
156250664CV2157513single nucleotide variantNM_006015.6(ARID1A):c.2694T>C (p.Ala898=)not provided [RCV003008431]likely benign12676324726763247Humanname
156275627CV2187703single nucleotide variantNM_006015.6(ARID1A):c.2619C>T (p.Ala873=)not provided [RCV003044608]likely benign12676317226763172Humanname
155969352CV2262104single nucleotide variantNM_006015.6(ARID1A):c.202C>T (p.Pro68Ser)Inborn genetic diseases [RCV002817560]uncertain significance12669660526696605Human1name
156260392CV2277914single nucleotide variantNM_006015.6(ARID1A):c.289G>C (p.Glu97Gln)Inborn genetic diseases [RCV002855384]uncertain significance12669669226696692Human1name
243063457CV2411777single nucleotide variantNM_006015.6(ARID1A):c.203C>T (p.Pro68Leu)Intellectual disability, autosomal dominant 14 [RCV003141500]uncertain significance12669660626696606Human1name
329351193CV2476374single nucleotide variantNM_006015.6(ARID1A):c.1362T>C (p.Tyr454=)not provided [RCV003222606]likely benign12673116326731163Humanname
401775822CV2692503single nucleotide variantNM_006015.6(ARID1A):c.187G>T (p.Val63Leu)Inborn genetic diseases [RCV003286222]uncertain significance12669659026696590Human1name
401796784CV2739758single nucleotide variantNM_006015.6(ARID1A):c.275G>A (p.Gly92Asp)not provided [RCV003319719]uncertain significance12669667826696678Humanname
401829196CV2747276single nucleotide variantNM_006015.6(ARID1A):c.221A>C (p.Gln74Pro)not provided [RCV003328741]uncertain significance12669662426696624Humanname
401912297CV2795963single nucleotide variantNM_006015.6(ARID1A):c.2109C>A (p.Pro703=)ARID1A-related disorder [RCV003399699]|not provided [RCV003778190]likely benign|uncertain significance12676104426761044Human1name , alternate_id
401913338CV2797242single nucleotide variantNM_006015.6(ARID1A):c.161C>T (p.Ala54Val)ARID1A-related disorder [RCV003427828]|not provided [RCV003778278]uncertain significance12669656426696564Human1name , alternate_id
401935496CV2812514single nucleotide variantNM_006015.6(ARID1A):c.1101C>T (p.Ser367=)not provided [RCV003412952]benign|likely benign12669750426697504Humanname
401935497CV2812515single nucleotide variantNM_006015.6(ARID1A):c.1224G>A (p.Pro408=)not provided [RCV003412953]likely benign12672973726729737Humanname
401935498CV2812516single nucleotide variantNM_006015.6(ARID1A):c.1473C>T (p.Ser491=)not provided [RCV003412954]likely benign12673127426731274Humanname
401935499CV2812517single nucleotide variantNM_006015.6(ARID1A):c.2241C>T (p.Ala747=)not provided [RCV003412955]uncertain significance12676146326761463Humanname
401935500CV2812518single nucleotide variantNM_006015.6(ARID1A):c.2388T>C (p.Tyr796=)not provided [RCV003412956]likely benign12676228826762288Humanname
401917049CV2829635single nucleotide variantNM_006015.6(ARID1A):c.213G>T (p.Lys71Asn)not provided [RCV003443679]uncertain significance12669661626696616Humanname
404978345CV2849634single nucleotide variantNM_006015.6(ARID1A):c.270C>A (p.Ser90Arg)Intellectual disability, autosomal dominant 14 [RCV003487075]uncertain significance12669667326696673Human1name
402514127CV2855496single nucleotide variantNM_006015.6(ARID1A):c.1650C>T (p.Pro550=)not provided [RCV003547262]likely benign12673145126731451Humanname
402482323CV2860600single nucleotide variantNM_006015.6(ARID1A):c.2760A>G (p.Gln920=)not provided [RCV003544153]likely benign12676624826766248Humanname
405092166CV2878146single nucleotide variantNM_006015.6(ARID1A):c.200A>G (p.Gln67Arg)not provided [RCV003549977]uncertain significance12669660326696603Humanname
405147956CV2881779single nucleotide variantNM_006015.6(ARID1A):c.1800G>A (p.Pro600=)not provided [RCV003561510]likely benign12673160126731601Humanname
402483889CV2922256single nucleotide variantNM_006015.6(ARID1A):c.1692A>G (p.Gln564=)not provided [RCV003572347]likely benign12673149326731493Humanname
402483911CV2922258single nucleotide variantNM_006015.6(ARID1A):c.1695T>A (p.Pro565=)not provided [RCV003572349]likely benign12673149626731496Humanname
405033523CV2922771single nucleotide variantNM_006015.6(ARID1A):c.202C>A (p.Pro68Thr)not provided [RCV003578538]uncertain significance12669660526696605Humanname
405087777CV2943340single nucleotide variantNM_006015.6(ARID1A):c.277G>C (p.Gly93Arg)not provided [RCV003665071]benign12669668026696680Humanname
402491936CV2945767single nucleotide variantNM_006015.6(ARID1A):c.1431C>T (p.His477=)not provided [RCV003660629]likely benign12673123226731232Humanname
405149601CV2959606single nucleotide variantNM_006015.6(ARID1A):c.1098C>T (p.Ser366=)not provided [RCV003673906]likely benign12669750126697501Humanname
405133237CV2961202single nucleotide variantNM_006015.6(ARID1A):c.133G>A (p.Ala45Thr)not provided [RCV003672593]uncertain significance12669653626696536Humanname
405172179CV2961444single nucleotide variantNM_006015.6(ARID1A):c.2382G>A (p.Gly794=)not provided [RCV003675508]likely benign12676228226762282Humanname
405240494CV2973914single nucleotide variantNM_006015.6(ARID1A):c.2391T>G (p.Gly797=)not provided [RCV003683960]likely benign12676229126762291Humanname
405229679CV2977347single nucleotide variantNM_006015.6(ARID1A):c.1920T>G (p.Pro640=)not provided [RCV003711302]benign12673279226732792Humanname
405239087CV2983307single nucleotide variantNM_006015.6(ARID1A):c.2286C>T (p.Tyr762=)not provided [RCV003683631]uncertain significance12676218626762186Humanname
405120732CV2994090single nucleotide variantNM_006015.6(ARID1A):c.2580C>T (p.His860=)not provided [RCV003723863]benign12676313326763133Humanname
405076315CV3031676single nucleotide variantNM_006015.6(ARID1A):c.1341T>C (p.Tyr447=)not provided [RCV003698617]likely benign12672985426729854Humanname
405208641CV3037228single nucleotide variantNM_006015.6(ARID1A):c.139C>T (p.Arg47Cys)not provided [RCV003708340]uncertain significance12669654226696542Humanname
405195694CV3037600single nucleotide variantNM_006015.6(ARID1A):c.194C>T (p.Pro65Leu)not provided [RCV003706889]uncertain significance12669659726696597Humanname
405235941CV3037980single nucleotide variantNM_006015.6(ARID1A):c.106G>A (p.Gly36Arg)not provided [RCV003712359]uncertain significance12669650926696509Humanname
405090206CV3044749single nucleotide variantNM_006015.6(ARID1A):c.2367G>A (p.Gln789=)not provided [RCV003717764]likely benign12676226726762267Humanname
405253828CV3048331single nucleotide variantNM_006015.6(ARID1A):c.1008T>C (p.Cys336=)not provided [RCV003722626]likely benign12669741126697411Humanname
405134739CV3051953single nucleotide variantNM_006015.6(ARID1A):c.2325G>A (p.Gln775=)not provided [RCV003725137]benign12676222526762225Humanname
405146143CV3052288single nucleotide variantNM_006015.6(ARID1A):c.2841A>G (p.Pro947=)not provided [RCV003726001]likely benign12676632926766329Humanname
405162758CV3062741single nucleotide variantNM_006015.6(ARID1A):c.140G>A (p.Arg47His)not provided [RCV003727216]benign12669654326696543Humanname
405103892CV3116384single nucleotide variantNM_006015.6(ARID1A):c.1626G>A (p.Gln542=)not provided [RCV003812100]likely benign12673142726731427Humanname
405187140CV3120555single nucleotide variantNM_006015.6(ARID1A):c.1236G>A (p.Gln412=)not provided [RCV003820637]benign12672974926729749Humanname
405163264CV3125241single nucleotide variantNM_006015.6(ARID1A):c.2790T>C (p.Tyr930=)ARID1A-related disorder [RCV003893417]|not provided [RCV003818513]likely benign12676627826766278Human1name , alternate_id
405119107CV3134789single nucleotide variantNM_006015.6(ARID1A):c.1293G>A (p.Pro431=)not provided [RCV003837199]likely benign12672980626729806Humanname
405052827CV3138393single nucleotide variantNM_006015.6(ARID1A):c.284G>A (p.Gly95Asp)not provided [RCV003832237]benign12669668726696687Humanname
405069953CV3140249single nucleotide variantNM_006015.6(ARID1A):c.1191G>A (p.Gly397=)not provided [RCV003833404]likely benign12672970426729704Humanname
405143510CV3141351single nucleotide variantNM_006015.6(ARID1A):c.2763G>T (p.Gly921=)not provided [RCV003839467]likely benign12676625126766251Humanname
405190697CV3157021single nucleotide variantNM_006015.6(ARID1A):c.2685A>G (p.Gln895=)not provided [RCV003859709]likely benign12676323826763238Humanname
405221091CV3157864single nucleotide variantNM_006015.6(ARID1A):c.1074C>T (p.His358=)not provided [RCV003863556]likely benign12669747726697477Humanname
405245749CV3158101single nucleotide variantNM_006015.6(ARID1A):c.190G>A (p.Gly64Arg)not provided [RCV003868636]uncertain significance12669659326696593Humanname
405209559CV3162606single nucleotide variantNM_006015.6(ARID1A):c.2331C>T (p.Ser777=)not provided [RCV003861905]likely benign12676223126762231Humanname
405259872CV3186457single nucleotide variantNM_006015.6(ARID1A):c.2550T>C (p.Tyr850=)not provided [RCV003884216]likely benign12676310326763103Humanname
405283403CV3218564single nucleotide variantNM_006015.6(ARID1A):c.196C>T (p.Pro66Ser)ARID1A-related disorder [RCV003957346]|not provided [RCV005102960]benign|likely benign12669659926696599Human1name , alternate_id
405684202CV3235497duplicationNM_006015.6(ARID1A):c.476dup (p.Ala160fs)Intellectual disability, autosomal dominant 14 [RCV004372011]pathogenic12669687826696879Human1name
408381183CV3501421single nucleotide variantNM_006015.6(ARID1A):c.2877A>T (p.Ala959=)not provided [RCV004727510]uncertain significance12676636526766365Humanname
408374419CV3516104single nucleotide variantNM_006015.6(ARID1A):c.2961G>T (p.Gly987=)ARID1A-related disorder [RCV004746728]|not provided [RCV005103865]likely benign12676653926766539Human1name , alternate_id
408388117CV3527366single nucleotide variantNM_006015.6(ARID1A):c.272G>A (p.Gly91Asp)not provided [RCV004773669]uncertain significance12669667526696675Humanname
408390506CV3527587single nucleotide variantNM_006015.6(ARID1A):c.283G>A (p.Gly95Ser)not provided [RCV004774854]uncertain significance12669668626696686Humanname
596927399CV3532581single nucleotide variantNM_006015.6(ARID1A):c.295G>T (p.Asp99Tyr)not provided [RCV004778679]uncertain significance12669669826696698Humanname
596943486CV3542957single nucleotide variantNM_006015.6(ARID1A):c.216G>C (p.Glu72Asp)not provided [RCV004798542]uncertain significance12669661926696619Humanname
597660959CV3712675single nucleotide variantNM_006015.6(ARID1A):c.260G>C (p.Gly87Ala)Intellectual disability, autosomal dominant 14 [RCV005028437]uncertain significance12669666326696663Human1name
597845337CV3736272single nucleotide variantNM_006015.6(ARID1A):c.2736G>A (p.Pro912=)not provided [RCV005065620]likely benign12676622426766224Humanname
597839833CV3737105single nucleotide variantNM_006015.6(ARID1A):c.2142C>T (p.Leu714=)not provided [RCV005064585]likely benign12676107726761077Humanname
597916258CV3737391single nucleotide variantNM_006015.6(ARID1A):c.2778T>C (p.Thr926=)not provided [RCV005074180]benign12676626626766266Humanname
597907734CV3738936single nucleotide variantNM_006015.6(ARID1A):c.2145G>A (p.Ser715=)not provided [RCV005073171]likely benign12676108026761080Humanname
597932986CV3742708single nucleotide variantNM_006015.6(ARID1A):c.2907C>T (p.Gly969=)not provided [RCV005076147]likely benign12676648526766485Humanname
597873091CV3747261single nucleotide variantNM_006015.6(ARID1A):c.2511C>T (p.Ala837=)not provided [RCV005068945]benign12676306426763064Humanname
597928239CV3749112single nucleotide variantNM_006015.6(ARID1A):c.2256T>C (p.Tyr752=)not provided [RCV005075568]likely benign12676215626762156Humanname
597970062CV3753554single nucleotide variantNM_006015.6(ARID1A):c.2400G>T (p.Gly800=)not provided [RCV005084039]benign12676230026762300Humanname
597890480CV3762878single nucleotide variantNM_006015.6(ARID1A):c.2544A>G (p.Pro848=)not provided [RCV005110651]likely benign12676309726763097Humanname
597944478CV3782837single nucleotide variantNM_006015.6(ARID1A):c.1776T>C (p.Tyr592=)not provided [RCV005134377]likely benign12673157726731577Humanname
597972319CV3790236single nucleotide variantNM_006015.6(ARID1A):c.1623A>G (p.Thr541=)not provided [RCV005142659]likely benign12673142426731424Humanname
597892511CV3809802single nucleotide variantNM_006015.6(ARID1A):c.1119G>T (p.Pro373=)not provided [RCV005151523]likely benign12669752226697522Humanname
597879921CV3810195single nucleotide variantNM_006015.6(ARID1A):c.217C>G (p.Leu73Val)not provided [RCV005149657]benign12669662026696620Humanname
597935528CV3811352single nucleotide variantNM_006015.6(ARID1A):c.2289T>C (p.Ser763=)not provided [RCV005157867]likely benign12676218926762189Humanname
597947652CV3817926single nucleotide variantNM_006015.6(ARID1A):c.2307A>T (p.Ser769=)not provided [RCV005160393]likely benign12676220726762207Humanname
597881411CV3826520single nucleotide variantNM_006015.6(ARID1A):c.1047C>T (p.Ala349=)not provided [RCV005178217]likely benign12669745026697450Humanname
597964520CV3830531single nucleotide variantNM_006015.6(ARID1A):c.1560G>A (p.Gln520=)not provided [RCV005164671]benign12673136126731361Humanname
597956300CV3838182single nucleotide variantNM_006015.6(ARID1A):c.1392A>G (p.Gln464=)not provided [RCV005191557]likely benign12673119326731193Humanname
597933881CV3844771single nucleotide variantNM_006015.6(ARID1A):c.2646G>A (p.Gly882=)not provided [RCV005186277]benign12676319926763199Humanname
597934927CV3845148single nucleotide variantNM_006015.6(ARID1A):c.1602C>T (p.Tyr534=)not provided [RCV005186461]likely benign12673140326731403Humanname
597937677CV3852654single nucleotide variantNM_006015.6(ARID1A):c.1290C>T (p.Tyr430=)not provided [RCV005187053]likely benign12672980326729803Humanname
598160767CV3897923single nucleotide variantNM_006015.6(ARID1A):c.158C>G (p.Ala53Gly)Inborn genetic diseases [RCV005261263]uncertain significance12669656126696561Human1name
13216476CV427764single nucleotide variantNM_006015.6(ARID1A):c.239A>G (p.Asn80Ser)not provided [RCV001569468]|not specified [RCV000503812]benign|likely benign|uncertain significance12669664226696642Humanname
13216520CV427768single nucleotide variantNM_006015.6(ARID1A):c.268A>G (p.Ser90Gly)Intellectual disability, autosomal dominant 14 [RCV002259971]|not provided [RCV002056837]|not specified [RCV000503870]benign|likely benign12669667126696671Human1name
13215826CV427782single nucleotide variantNM_006015.6(ARID1A):c.2139A>G (p.Pro713=)Intellectual disability, autosomal dominant 14 [RCV002259973]|not provided [RCV000893350]|not specified [RCV000502991]benign|likely benign12676107426761074Human1name
13213084CV427786single nucleotide variantNM_006015.6(ARID1A):c.2541C>A (p.Ile847=)Intellectual disability, autosomal dominant 14 [RCV002259974]|not provided [RCV001618713]|not specified [RCV000499591]benign|likely benign12676309426763094Human1name
13462722CV439051single nucleotide variantNM_006015.6(ARID1A):c.193C>G (p.Pro65Ala)not provided [RCV000514692]conflicting interpretations of pathogenicity|uncertain significance12669659626696596Humanname
15192873CV718878single nucleotide variantNM_006015.6(ARID1A):c.1131C>T (p.Thr377=)Intellectual disability, autosomal dominant 14 [RCV002260099]|not provided [RCV000888785]benign12669753426697534Human1name
15182302CV718879single nucleotide variantNM_006015.6(ARID1A):c.1188C>T (p.Gly396=)Intellectual disability, autosomal dominant 14 [RCV002260097]|not provided [RCV000885961]benign|likely benign12672970126729701Human1name
15160953CV732354single nucleotide variantNM_006015.6(ARID1A):c.1807C>T (p.Leu603=)not provided [RCV000903250]likely benign12673267926732679Humanname
38598984CV964993single nucleotide variantNM_006015.6(ARID1A):c.163G>A (p.Gly55Arg)Intellectual disability, autosomal dominant 14 [RCV001254354]uncertain significance12669656626696566Human1name
41408183CV980904single nucleotide variantNM_006015.6(ARID1A):c.1113G>A (p.Gly371=)Intellectual disability, autosomal dominant 14 [RCV001283776]uncertain significance12669751626697516Human1name
126743353CV1015706single nucleotide variantNM_006015.6(ARID1A):c.326C>G (p.Pro109Arg)Intellectual disability, autosomal dominant 14 [RCV001330182]uncertain significance12669672926696729Human1name
127261647CV1087301single nucleotide variantNM_006015.6(ARID1A):c.764C>T (p.Ser255Phe)Intellectual disability, autosomal dominant 14 [RCV001420542]uncertain significance12669716726697167Human1name
150337928CV1166617deletionNM_006015.6(ARID1A):c.2914del (p.Asp972fs)ARID1A-related BAFopathy [RCV001533076]pathogenic12676648926766489Humanname , trait
150422581CV1179245single nucleotide variantNM_006015.6(ARID1A):c.6582C>T (p.Asn2194=)not provided [RCV001552835]likely benign12678048026780480Humanname
150425236CV1182909single nucleotide variantNM_006015.6(ARID1A):c.4947A>G (p.Thr1649=)not provided [RCV001557744]benign|likely benign12677517426775174Humanname
150427875CV1186172single nucleotide variantNM_006015.6(ARID1A):c.376G>A (p.Gly126Ser)not provided [RCV001561506]benign|likely benign12669677926696779Humanname
150426637CV1186173single nucleotide variantNM_006015.6(ARID1A):c.482T>C (p.Val161Ala)not provided [RCV001559829]likely benign12669688526696885Humanname
150427785CV1186179single nucleotide variantNM_006015.6(ARID1A):c.6807A>G (p.Ser2269=)not provided [RCV001561389]likely benign12678070526780705Humanname
150419392CV1196603single nucleotide variantNM_006015.6(ARID1A):c.3978G>A (p.Pro1326=)not provided [RCV001577157]|not specified [RCV001821913]likely benign12677369126773691Humanname
150415146CV1196604single nucleotide variantNM_006015.6(ARID1A):c.6708C>T (p.Arg2236=)ARID1A-related disorder [RCV003956270]|not provided [RCV001575268]likely benign12678060626780606Human1name , alternate_id
150457181CV1202588single nucleotide variantNM_006015.6(ARID1A):c.865C>T (p.Pro289Ser)not provided [RCV001586241]benign|likely benign12669726826697268Humanname
150513763CV1213876single nucleotide variantNM_006015.6(ARID1A):c.437C>T (p.Pro146Leu)Intellectual disability, autosomal dominant 14 [RCV003645890]|not provided [RCV001598612]likely benign|conflicting interpretations of pathogenicity|uncertain significance12669684026696840Human1name
150461642CV1214538single nucleotide variantNM_006015.6(ARID1A):c.4563C>T (p.Pro1521=)not provided [RCV001613531]benign|likely benign12677479026774790Humanname
150436476CV1221847single nucleotide variantNM_006015.6(ARID1A):c.4779G>T (p.Arg1593=)Intellectual disability, autosomal dominant 14 [RCV002260229]|not provided [RCV001609539]|not specified [RCV001821929]benign|likely benign12677500626775006Human1name
150451478CV1232807single nucleotide variantNM_006015.6(ARID1A):c.4560C>T (p.Gly1520=)not provided [RCV001647882]|not specified [RCV003151342]benign|likely benign12677478726774787Humanname
150475643CV1239767single nucleotide variantNM_006015.6(ARID1A):c.547G>A (p.Ala183Thr)not provided [RCV001651944]benign12669695026696950Humanname
150434447CV1243953single nucleotide variantNM_006015.6(ARID1A):c.439G>C (p.Ala147Pro)not provided [RCV001665160]likely benign|conflicting interpretations of pathogenicity12669684226696842Humanname
150508367CV1244814single nucleotide variantNM_006015.6(ARID1A):c.4773G>T (p.Leu1591=)not provided [RCV001659063]likely benign12677500026775000Humanname
150439452CV1247721single nucleotide variantNM_006015.6(ARID1A):c.4869G>A (p.Ser1623=)ARID1A-related disorder [RCV003948662]|Intellectual disability, autosomal dominant 14 [RCV002260275]|not provided [RCV001666088]benign|likely benign12677509626775096Human1name , alternate_id
150493176CV1257501single nucleotide variantNM_006015.6(ARID1A):c.4542G>A (p.Thr1514=)ARID1A-related disorder [RCV003910955]|not provided [RCV001675174]benign|likely benign12677476926774769Human1name , alternate_id
150487363CV1262728single nucleotide variantNM_006015.6(ARID1A):c.4152C>T (p.His1384=)Intellectual disability, autosomal dominant 14 [RCV002260326]|not provided [RCV001687126]benign|likely benign12677437926774379Human1name
150487437CV1262740single nucleotide variantNM_006015.6(ARID1A):c.3870G>A (p.Thr1290=)Intellectual disability, autosomal dominant 14 [RCV002260327]|not provided [RCV001687138]benign12677358326773583Human1name
150483566CV1263011single nucleotide variantNM_006015.6(ARID1A):c.373G>A (p.Gly125Ser)ARID1A-related disorder [RCV003941072]|Intellectual disability, autosomal dominant 14 [RCV002260319]|not provided [RCV001686411]benign|likely benign12669677626696776Human1name , alternate_id
150483645CV1263024single nucleotide variantNM_006015.6(ARID1A):c.5934C>T (p.Ala1978=)not provided [RCV001686424]benign12677983226779832Humanname
150489823CV1267509single nucleotide variantNM_006015.6(ARID1A):c.6444T>C (p.Tyr2148=)not provided [RCV001687533]benign12678034226780342Humanname
150463437CV1273153single nucleotide variantNM_006015.6(ARID1A):c.3972C>T (p.Tyr1324=)not provided [RCV001693910]benign|likely benign12677368526773685Humanname
150528370CV1288274single nucleotide variantNM_006015.6(ARID1A):c.791C>A (p.Ser264Ter)not provided [RCV001726742]likely pathogenic12669719426697194Humanname
150540721CV1296117single nucleotide variantNM_006015.6(ARID1A):c.4101G>A (p.Gln1367=)Neurodevelopmental delay [RCV002274203]|not provided [RCV001760586]likely pathogenic|uncertain significance12677389826773898Human1name
150555487CV1297963single nucleotide variantNM_006015.6(ARID1A):c.488C>T (p.Ala163Val)not provided [RCV001772871]conflicting interpretations of pathogenicity|uncertain significance12669689126696891Humanname
150541715CV1301573single nucleotide variantNM_006015.6(ARID1A):c.935C>G (p.Pro312Arg)not provided [RCV001761039]likely benign|uncertain significance12669733826697338Humanname
150528236CV1301758single nucleotide variantNM_006015.6(ARID1A):c.433C>T (p.Pro145Ser)not provided [RCV001755130]uncertain significance12669683626696836Humanname
150556851CV1305817single nucleotide variantNM_006015.6(ARID1A):c.6027C>T (p.Leu2009=)not provided [RCV001774802]likely benign12677992526779925Humanname
150557023CV1310347single nucleotide variantNM_006015.6(ARID1A):c.595C>T (p.Gln199Ter)ARID1A-related disorder [RCV003401706]|Intellectual disability, autosomal dominant 14 [RCV001775275]likely pathogenic12669699826696998Human1name , alternate_id
8591196CV131842single nucleotide variantNM_006015.6(ARID1A):c.5001G>A (p.Pro1667=)Intellectual disability, autosomal dominant 14 [RCV002259600]|not provided [RCV000884379]|not specified [RCV000114253]benign|likely benign12677558426775584Human1name
151354618CV1327685single nucleotide variantNM_006015.6(ARID1A):c.3519C>T (p.Ile1173=)not specified [RCV001819160]uncertain significance12677261226772612Humanname
151356173CV1328937single nucleotide variantNM_006015.6(ARID1A):c.6252C>G (p.Val2084=)not provided [RCV003772328]|not specified [RCV001822526]likely benign12678015026780150Humanname
151356206CV1328970single nucleotide variantNM_006015.6(ARID1A):c.587C>T (p.Ala196Val)Inborn genetic diseases [RCV003375365]|not specified [RCV001822559]uncertain significance12669699026696990Human1name
151356271CV1329035single nucleotide variantNM_006015.6(ARID1A):c.3816G>A (p.Ala1272=)not provided [RCV003772335]|not specified [RCV001822624]benign|likely benign12677344626773446Humanname
151354277CV1329410single nucleotide variantNM_006015.6(ARID1A):c.666C>G (p.Tyr222Ter)not provided [RCV001817773]pathogenic12669706926697069Humanname
151759205CV1349945single nucleotide variantNM_006015.6(ARID1A):c.856A>G (p.Thr286Ala)not provided [RCV001987066]benign|uncertain significance12669725926697259Humanname
151856667CV1377373single nucleotide variantNM_006015.6(ARID1A):c.535C>G (p.Pro179Ala)not provided [RCV001923482]uncertain significance12669693826696938Humanname
151712114CV1400230single nucleotide variantNM_006015.6(ARID1A):c.854G>A (p.Gly285Glu)not provided [RCV002002194]uncertain significance12669725726697257Humanname
151763580CV1403036single nucleotide variantNM_006015.6(ARID1A):c.914C>T (p.Ala305Val)not provided [RCV001914269]uncertain significance12669731726697317Humanname
151782263CV1422258single nucleotide variantNM_006015.6(ARID1A):c.359C>T (p.Pro120Leu)not provided [RCV001972189]benign|uncertain significance12669676226696762Humanname
151828917CV1453280single nucleotide variantNM_006015.6(ARID1A):c.361C>T (p.Pro121Ser)not provided [RCV002050530]uncertain significance12669676426696764Humanname
151769954CV1502373single nucleotide variantNM_006015.6(ARID1A):c.385A>T (p.Ser129Cys)not provided [RCV001896238]benign|uncertain significance12669678826696788Humanname
151881432CV1504191single nucleotide variantNM_006015.6(ARID1A):c.328A>G (p.Arg110Gly)Coffin-Siris syndrome 1 [RCV004784033]|not provided [RCV002020228]uncertain significance12669673126696731Human1name
152084261CV1577002single nucleotide variantNM_006015.6(ARID1A):c.6291T>G (p.Ala2097=)not provided [RCV002193423]likely benign12678018926780189Humanname
152128426CV1583753single nucleotide variantNM_006015.6(ARID1A):c.5880C>T (p.His1960=)not provided [RCV002198998]likely benign12677977826779778Humanname
152047887CV1614754single nucleotide variantNM_006015.6(ARID1A):c.3111C>T (p.Gly1037=)not provided [RCV002071811]benign12676791226767912Humanname
152140471CV1625141single nucleotide variantNM_006015.6(ARID1A):c.4056C>T (p.Ser1352=)not provided [RCV002219302]likely benign12677385326773853Humanname
152176176CV1628380single nucleotide variantNM_006015.6(ARID1A):c.6711G>A (p.Ala2237=)not provided [RCV002164318]|not specified [RCV005406388]benign|likely benign12678060926780609Humanname
152151364CV1631365single nucleotide variantNM_006015.6(ARID1A):c.4659C>G (p.Pro1553=)not provided [RCV002179501]likely benign12677488626774886Humanname
152030721CV1632287single nucleotide variantNM_006015.6(ARID1A):c.6762C>T (p.Tyr2254=)ARID1A-related disorder [RCV003916287]|not provided [RCV002124402]likely benign12678066026780660Human1name , alternate_id
152071563CV1633796single nucleotide variantNM_006015.6(ARID1A):c.331C>G (p.Pro111Ala)not provided [RCV002191850]benign12669673426696734Humanname
152125484CV1646184single nucleotide variantNM_006015.6(ARID1A):c.448T>C (p.Phe150Leu)not provided [RCV002217344]|not specified [RCV005238228]benign|likely benign|uncertain significance12669685126696851Humanname
153349345CV1693140single nucleotide variantNM_006015.6(ARID1A):c.380G>A (p.Gly127Asp)not provided [RCV002275746]uncertain significance12669678326696783Humanname
155267094CV1696497single nucleotide variantNM_006015.6(ARID1A):c.5245A>C (p.Arg1749=)not provided [RCV002281355]uncertain significance12677914326779143Humanname
155265225CV1704684single nucleotide variantNM_006015.6(ARID1A):c.323G>A (p.Gly108Asp)not provided [RCV002284900]uncertain significance12669672626696726Humanname
155741804CV1770583deletionNM_006015.6(ARID1A):c.2343del (p.His782fs)Hepatocellular carcinoma [RCV002302808]pathogenic12676224326762243Human1name
155740704CV1779765single nucleotide variantNM_006015.6(ARID1A):c.734C>A (p.Ala245Glu)not provided [RCV002302334]uncertain significance12669713726697137Humanname
155720318CV1781242single nucleotide variantNM_006015.6(ARID1A):c.649C>G (p.Pro217Ala)not provided [RCV002306318]uncertain significance12669705226697052Humanname
155803230CV1858006single nucleotide variantNM_006015.6(ARID1A):c.422C>G (p.Ala141Gly)not provided [RCV002461856]uncertain significance12669682526696825Humanname
155797878CV1860540single nucleotide variantNM_006015.6(ARID1A):c.630C>G (p.His210Gln)not provided [RCV002467182]uncertain significance12669703326697033Humanname
156409403CV1874126single nucleotide variantNM_006015.6(ARID1A):c.3855T>C (p.Tyr1285=)not provided [RCV003071659]likely benign12677348526773485Humanname
156360054CV1887646single nucleotide variantNM_006015.6(ARID1A):c.325C>T (p.Pro109Ser)Inborn genetic diseases [RCV003250755]|not provided [RCV003091643]benign|uncertain significance12669672826696728Human1name
156369063CV1887838single nucleotide variantNM_006015.6(ARID1A):c.3945C>T (p.Asp1315=)not provided [RCV003092276]likely benign12677365826773658Humanname
156317813CV1897592single nucleotide variantNM_006015.6(ARID1A):c.649C>T (p.Pro217Ser)Inborn genetic diseases [RCV002579053]|not provided [RCV002579054]likely benign|uncertain significance12669705226697052Human1name
156357377CV1901292single nucleotide variantNM_006015.6(ARID1A):c.949A>G (p.Ser317Gly)Intellectual disability, autosomal dominant 14 [RCV004594670]|not provided [RCV002602261]uncertain significance12669735226697352Human1name
156412760CV1904581single nucleotide variantNM_006015.6(ARID1A):c.3081T>C (p.Tyr1027=)not provided [RCV002587935]likely benign12676788226767882Humanname
156165824CV1907727single nucleotide variantNM_006015.6(ARID1A):c.4347C>T (p.Gly1449=)not provided [RCV003083068]benign|likely benign12677457426774574Humanname
156365610CV1908421single nucleotide variantNM_006015.6(ARID1A):c.997G>T (p.Ala333Ser)not provided [RCV002582041]benign12669740026697400Humanname
156210464CV1909714single nucleotide variantNM_006015.6(ARID1A):c.6093T>C (p.Tyr2031=)not provided [RCV002596042]likely benign12677999126779991Humanname
156020935CV1911414single nucleotide variantNM_006015.6(ARID1A):c.5886G>A (p.Lys1962=)not provided [RCV002636705]benign12677978426779784Humanname
156408004CV1911415single nucleotide variantNM_006015.6(ARID1A):c.6588G>A (p.Leu2196=)not provided [RCV002607082]likely benign12678048626780486Humanname
156274949CV1911806single nucleotide variantNM_006015.6(ARID1A):c.6516C>T (p.Ala2172=)not provided [RCV002628234]benign12678041426780414Humanname
156067668CV1927954single nucleotide variantNM_006015.6(ARID1A):c.622C>T (p.Pro208Ser)not provided [RCV002638497]benign12669702526697025Humanname
156215916CV1931124single nucleotide variantNM_006015.6(ARID1A):c.6712C>T (p.Leu2238=)not provided [RCV002644198]likely benign12678061026780610Humanname
156442191CV1938105single nucleotide variantNM_006015.6(ARID1A):c.3948G>A (p.Ser1316=)not provided [RCV003112530]likely benign12677366126773661Humanname
156434635CV1940142single nucleotide variantNM_006015.6(ARID1A):c.421G>A (p.Ala141Thr)not provided [RCV003104556]uncertain significance12669682426696824Humanname
156440502CV1943551single nucleotide variantNM_006015.6(ARID1A):c.5745G>A (p.Leu1915=)not provided [RCV003110537]likely benign12677964326779643Humanname
156444575CV1948303single nucleotide variantNM_006015.6(ARID1A):c.6192C>T (p.Leu2064=)not provided [RCV003115499]likely benign12678009026780090Humanname
156407873CV1957634single nucleotide variantNM_006015.6(ARID1A):c.778T>G (p.Ser260Ala)not provided [RCV002586350]likely benign12669718126697181Humanname
156140389CV1959678single nucleotide variantNM_006015.6(ARID1A):c.317A>G (p.Asn106Ser)Inborn genetic diseases [RCV002572550]|not provided [RCV002572549]benign|uncertain significance12669672026696720Human1name
156409772CV1961950single nucleotide variantNM_006015.6(ARID1A):c.4062C>T (p.Phe1354=)ARID1A-related disorder [RCV003973431]|not provided [RCV002586932]likely benign12677385926773859Human1name , alternate_id
156336726CV1976885single nucleotide variantNM_006015.6(ARID1A):c.4818C>T (p.Phe1606=)ARID1A-related disorder [RCV003973437]|not provided [RCV002601070]likely benign12677504526775045Human1name , alternate_id
156249876CV1988500single nucleotide variantNM_006015.6(ARID1A):c.481G>A (p.Val161Ile)not provided [RCV002645860]benign|likely benign12669688426696884Humanname
156328908CV1990801single nucleotide variantNM_006015.6(ARID1A):c.4500G>A (p.Gly1500=)not provided [RCV002630816]likely benign12677472726774727Humanname
156091758CV1994383single nucleotide variantNM_006015.6(ARID1A):c.6597A>G (p.Leu2199=)not provided [RCV002639246]likely benign12678049526780495Humanname
156352736CV1994597single nucleotide variantNM_006015.6(ARID1A):c.710G>C (p.Gly237Ala)not provided [RCV002675708]uncertain significance12669711326697113Humanname
156099912CV2001004single nucleotide variantNM_006015.6(ARID1A):c.6046C>T (p.Leu2016=)not provided [RCV002639542]likely benign12677994426779944Humanname
156144205CV2002902single nucleotide variantNM_006015.6(ARID1A):c.6189A>G (p.Thr2063=)not provided [RCV002663678]likely benign12678008726780087Humanname
155914784CV2008179single nucleotide variantNM_006015.6(ARID1A):c.3357A>G (p.Ala1119=)not provided [RCV002681975]benign12677127726771277Humanname
156321462CV2022092single nucleotide variantNM_006015.6(ARID1A):c.5097C>T (p.Asn1699=)not provided [RCV002717118]likely benign12677568026775680Humanname
10405468CV206795single nucleotide variantNM_006015.6(ARID1A):c.6586C>T (p.Leu2196=)Intellectual disability, autosomal dominant 14 [RCV002259732]|not provided [RCV000890429]|not specified [RCV000193475]benign|likely benign|uncertain significance12678048426780484Human1name
156151603CV2070342single nucleotide variantNM_006015.6(ARID1A):c.5205G>A (p.Glu1735=)not provided [RCV002850888]likely benign12677910326779103Humanname
156012935CV2071943single nucleotide variantNM_006015.6(ARID1A):c.584A>T (p.Tyr195Phe)not provided [RCV002843973]uncertain significance12669698726696987Humanname
155957435CV2078412single nucleotide variantNM_006015.6(ARID1A):c.5298A>G (p.Glu1766=)not provided [RCV002880842]likely benign12677919626779196Humanname
156253260CV2082691single nucleotide variantNM_006015.6(ARID1A):c.3441C>A (p.Pro1147=)not provided [RCV002877017]likely benign12677253426772534Humanname
156209077CV2103206single nucleotide variantNM_006015.6(ARID1A):c.4932C>G (p.Gly1644=)not provided [RCV002918090]likely benign12677515926775159Humanname
156138898CV2116478single nucleotide variantNM_006015.6(ARID1A):c.6681T>C (p.Ser2227=)not provided [RCV002914831]likely benign12678057926780579Humanname
156357729CV2126192single nucleotide variantNM_006015.6(ARID1A):c.5247G>A (p.Arg1749=)not provided [RCV002966779]likely benign12677914526779145Humanname
156359756CV2126358single nucleotide variantNM_006015.6(ARID1A):c.5088T>C (p.Tyr1696=)not provided [RCV002966904]likely benign12677567126775671Humanname
155905483CV2134500single nucleotide variantNM_006015.6(ARID1A):c.5400T>C (p.Asn1800=)not provided [RCV002967685]likely benign12677929826779298Humanname
156141043CV2137891single nucleotide variantNM_006015.6(ARID1A):c.977G>C (p.Gly326Ala)not provided [RCV002982315]uncertain significance12669738026697380Humanname
156161651CV2139356single nucleotide variantNM_006015.6(ARID1A):c.3936C>A (p.Ser1312=)not provided [RCV002983028]likely benign12677364926773649Humanname
155906195CV2148126single nucleotide variantNM_006015.6(ARID1A):c.860C>T (p.Pro287Leu)not provided [RCV003011937]uncertain significance12669726326697263Humanname
155934617CV2153553single nucleotide variantNM_006015.6(ARID1A):c.524G>A (p.Gly175Glu)not provided [RCV003013844]uncertain significance12669692726696927Humanname
156183655CV2163817single nucleotide variantNM_006015.6(ARID1A):c.6735C>T (p.Asp2245=)not provided [RCV003023906]likely benign12678063326780633Humanname
156156483CV2190882single nucleotide variantNM_006015.6(ARID1A):c.791C>T (p.Ser264Leu)not provided [RCV003040547]uncertain significance12669719426697194Humanname
156402231CV2191490single nucleotide variantNM_006015.6(ARID1A):c.6204G>A (p.Ser2068=)not provided [RCV003052418]likely benign12678010226780102Humanname
156249907CV2192742single nucleotide variantNM_006015.6(ARID1A):c.5922G>A (p.Gln1974=)not provided [RCV003059986]uncertain significance12677982026779820Humanname
156095002CV2213527single nucleotide variantNM_006015.6(ARID1A):c.497C>T (p.Ala166Val)Inborn genetic diseases [RCV002661591]|not provided [RCV003777616]likely benign|uncertain significance12669690026696900Human1name
156327426CV2217275single nucleotide variantNM_006015.6(ARID1A):c.374G>T (p.Gly125Val)Inborn genetic diseases [RCV002672895]uncertain significance12669677726696777Human1name
156119998CV2219314single nucleotide variantNM_006015.6(ARID1A):c.658A>C (p.Ser220Arg)Inborn genetic diseases [RCV002707773]uncertain significance12669706126697061Human1name
11087912CV227657deletionNM_006015.6(ARID1A):c.1113del (p.Gln372fs)Intellectual disability, autosomal dominant 14 [RCV000211061]pathogenic12669751126697511Human1name
243063454CV2411774single nucleotide variantNM_006015.6(ARID1A):c.334G>A (p.Ala112Thr)Intellectual disability, autosomal dominant 14 [RCV003141497]uncertain significance12669673726696737Human1name
243063456CV2411776single nucleotide variantNM_006015.6(ARID1A):c.626A>T (p.Asn209Ile)Intellectual disability, autosomal dominant 14 [RCV003141499]uncertain significance12669702926697029Human1name
243052100CV2416060deletionNM_006015.6(ARID1A):c.1015del (p.Ala339fs)Intellectual disability, autosomal dominant 14 [RCV003149120]pathogenic12669741326697413Human1name
243049546CV2416934single nucleotide variantNM_006015.6(ARID1A):c.3234C>T (p.Thr1078=)not specified [RCV003151606]likely benign12677115426771154Humanname
243049551CV2416939deletionNM_006015.6(ARID1A):c.1397del (p.Gly466fs)not provided [RCV003151611]pathogenic12673119626731196Humanname
329954747CV2670676single nucleotide variantNM_006015.6(ARID1A):c.511C>G (p.Gln171Glu)not provided [RCV003235944]uncertain significance12669691426696914Humanname
329954859CV2670791single nucleotide variantNM_006015.6(ARID1A):c.412T>C (p.Ser138Pro)not provided [RCV003236059]uncertain significance12669681526696815Humanname
401759846CV2698648single nucleotide variantNM_006015.6(ARID1A):c.740C>T (p.Ala247Val)Inborn genetic diseases [RCV003280301]uncertain significance12669714326697143Human1name
401763553CV2720365single nucleotide variantNM_006015.6(ARID1A):c.667C>A (p.Pro223Thr)Inborn genetic diseases [RCV003300605]uncertain significance12669707026697070Human1name
401740669CV2738744single nucleotide variantNM_006015.6(ARID1A):c.704G>A (p.Arg235Lys)not provided [RCV003318138]uncertain significance12669710726697107Humanname
401798257CV2739265single nucleotide variantNM_006015.6(ARID1A):c.299T>C (p.Leu100Pro)not provided [RCV003318913]likely benign12669670226696702Humanname
401828693CV2743028single nucleotide variantNM_006015.6(ARID1A):c.698C>T (p.Ser233Phe)not provided [RCV003325736]uncertain significance12669710126697101Humanname
401830308CV2748010single nucleotide variantNM_006015.6(ARID1A):c.815G>A (p.Gly272Glu)not provided [RCV003329617]uncertain significance12669721826697218Humanname
401873770CV2749811single nucleotide variantNM_006015.6(ARID1A):c.511C>T (p.Gln171Ter)Malignant tumor of urinary bladder [RCV003332939]pathogenic12669691426696914Human2name
401912414CV2802863single nucleotide variantNM_006015.6(ARID1A):c.994A>G (p.Met332Val)ARID1A-related disorder [RCV003399842]uncertain significance12669739726697397Humanname , trait , alternate_id
401935493CV2812511single nucleotide variantNM_006015.6(ARID1A):c.456A>T (p.Gln152His)not provided [RCV003412949]uncertain significance12669685926696859Humanname
401935494CV2812512single nucleotide variantNM_006015.6(ARID1A):c.742G>A (p.Gly248Ser)not provided [RCV003412950]likely benign12669714526697145Humanname
401935505CV2812523single nucleotide variantNM_006015.6(ARID1A):c.4368A>G (p.Pro1456=)not provided [RCV003412961]uncertain significance12677459526774595Humanname
401935506CV2812524single nucleotide variantNM_006015.6(ARID1A):c.4530C>T (p.Asn1510=)not provided [RCV003412962]benign|likely benign12677475726774757Humanname
401935507CV2812525single nucleotide variantNM_006015.6(ARID1A):c.5028C>T (p.Leu1676=)not provided [RCV003412963]likely benign12677561126775611Humanname
401935536CV2812530single nucleotide variantNM_006015.6(ARID1A):c.6231C>T (p.Pro2077=)not provided [RCV003412969]likely benign12678012926780129Humanname
401935537CV2812531single nucleotide variantNM_006015.6(ARID1A):c.6720C>G (p.Ala2240=)not provided [RCV003412970]benign|likely benign12678061826780618Humanname
404978342CV2849633single nucleotide variantNM_006015.6(ARID1A):c.493G>C (p.Ala165Pro)Intellectual disability, autosomal dominant 14 [RCV003487074]uncertain significance12669689626696896Human1name
404978346CV2849635single nucleotide variantNM_006015.6(ARID1A):c.320C>T (p.Ala107Val)Intellectual disability, autosomal dominant 14 [RCV003487076]|not provided [RCV004818359]uncertain significance12669672326696723Human1name
404982248CV2851508single nucleotide variantNM_006015.6(ARID1A):c.6612C>T (p.Ala2204=)ARID1A-related disorder [RCV003901098]|Intellectual disability, autosomal dominant 14 [RCV003487100]|not provided [RCV003732604]benign|likely benign12678051026780510Human1name , alternate_id
405173655CV2853500single nucleotide variantNM_006015.6(ARID1A):c.911C>T (p.Ser304Leu)not provided [RCV003542547]uncertain significance12669731426697314Humanname
402479194CV2853897single nucleotide variantNM_006015.6(ARID1A):c.959C>G (p.Pro320Arg)not provided [RCV003543834]uncertain significance12669736226697362Humanname
402516344CV2856633single nucleotide variantNM_006015.6(ARID1A):c.364G>C (p.Gly122Arg)not provided [RCV003575429]benign|uncertain significance12669676726696767Humanname
402474200CV2858090single nucleotide variantNM_006015.6(ARID1A):c.6786G>A (p.Ser2262=)not provided [RCV003543093]benign12678068426780684Humanname
402499178CV2871972single nucleotide variantNM_006015.6(ARID1A):c.6090T>A (p.Thr2030=)not provided [RCV003545725]likely benign12677998826779988Humanname
405216677CV2872570single nucleotide variantNM_006015.6(ARID1A):c.5235G>A (p.Leu1745=)not provided [RCV003553312]likely benign12677913326779133Humanname
405199185CV2876780single nucleotide variantNM_006015.6(ARID1A):c.5448C>T (p.Ile1816=)not provided [RCV003551135]likely benign12677934626779346Humanname
405199835CV2877071single nucleotide variantNM_006015.6(ARID1A):c.4707A>G (p.Pro1569=)not provided [RCV003551277]likely benign12677493426774934Humanname
402494261CV2887285single nucleotide variantNM_006015.6(ARID1A):c.6258C>T (p.Asp2086=)not provided [RCV003573328]benign12678015626780156Humanname
402465042CV2916537single nucleotide variantNM_006015.6(ARID1A):c.322G>A (p.Gly108Ser)not provided [RCV003569145]uncertain significance12669672526696725Humanname
405184468CV2920449single nucleotide variantNM_006015.6(ARID1A):c.982G>A (p.Gly328Ser)not provided [RCV003564322]uncertain significance12669738526697385Humanname
402484316CV2922279single nucleotide variantNM_006015.6(ARID1A):c.6747A>C (p.Ser2249=)not provided [RCV003572359]likely benign12678064526780645Humanname
405008618CV2926774single nucleotide variantNM_006015.6(ARID1A):c.6558A>G (p.Ala2186=)not provided [RCV003576461]benign12678045626780456Humanname
405027698CV2928755single nucleotide variantNM_006015.6(ARID1A):c.668C>G (p.Pro223Arg)not provided [RCV003578127]uncertain significance12669707126697071Humanname
405014614CV2930283single nucleotide variantNM_006015.6(ARID1A):c.814G>A (p.Gly272Arg)not provided [RCV003576969]benign|uncertain significance12669721726697217Humanname
405112802CV2939046single nucleotide variantNM_006015.6(ARID1A):c.3984G>A (p.Gln1328=)not provided [RCV003666532]likely benign12677369726773697Humanname
405123895CV2942623single nucleotide variantNM_006015.6(ARID1A):c.6021G>A (p.Leu2007=)not provided [RCV003671763]likely benign12677991926779919Humanname
405067301CV2944571single nucleotide variantNM_006015.6(ARID1A):c.734C>T (p.Ala245Val)not provided [RCV003663765]benign|uncertain significance12669713726697137Humanname
405093106CV2947144single nucleotide variantNM_006015.6(ARID1A):c.5971C>T (p.Leu1991=)not provided [RCV003665429]likely benign12677986926779869Humanname
405160679CV2950189single nucleotide variantNM_006015.6(ARID1A):c.6306C>T (p.Pro2102=)not provided [RCV003674595]likely benign12678020426780204Humanname
405182445CV2952702single nucleotide variantNM_006015.6(ARID1A):c.319G>A (p.Ala107Thr)not provided [RCV003676412]uncertain significance12669672226696722Humanname
405180292CV2956209single nucleotide variantNM_006015.6(ARID1A):c.4659C>T (p.Pro1553=)not provided [RCV003676196]likely benign12677488626774886Humanname
405121352CV2957694single nucleotide variantNM_006015.6(ARID1A):c.854G>C (p.Gly285Ala)not provided [RCV003667385]uncertain significance12669725726697257Humanname
405125793CV2958395single nucleotide variantNM_006015.6(ARID1A):c.776C>T (p.Ala259Val)not provided [RCV003667908]uncertain significance12669717926697179Humanname
405233142CV2965441single nucleotide variantNM_006015.6(ARID1A):c.4341A>G (p.Pro1447=)not provided [RCV003682589]likely benign12677456826774568Humanname
402492442CV2981251single nucleotide variantNM_006015.6(ARID1A):c.6228C>T (p.Tyr2076=)not provided [RCV003713907]likely benign12678012626780126Humanname
405010275CV2987256single nucleotide variantNM_006015.6(ARID1A):c.902C>T (p.Ser301Leu)not provided [RCV003693921]uncertain significance12669730526697305Humanname
405249945CV3000776single nucleotide variantNM_006015.6(ARID1A):c.3903C>T (p.Ser1301=)not provided [RCV003721379]likely benign12677361626773616Humanname
402516671CV3003200single nucleotide variantNM_006015.6(ARID1A):c.6606C>T (p.Ser2202=)not provided [RCV003716121]likely benign12678050426780504Humanname
405002748CV3016203single nucleotide variantNM_006015.6(ARID1A):c.6031C>T (p.Leu2011=)not provided [RCV003693333]likely benign12677992926779929Humanname
405152586CV3031532single nucleotide variantNM_006015.6(ARID1A):c.644A>G (p.Tyr215Cys)not provided [RCV003703395]uncertain significance12669704726697047Humanname
402486136CV3033921single nucleotide variantNM_006015.6(ARID1A):c.555G>T (p.Gln185His)not provided [RCV003713313]benign|uncertain significance12669695826696958Humanname
402506001CV3039081single nucleotide variantNM_006015.6(ARID1A):c.5622C>T (p.Cys1874=)not provided [RCV003715205]likely benign12677952026779520Humanname
405080759CV3050390single nucleotide variantNM_006015.6(ARID1A):c.365G>T (p.Gly122Val)Inborn genetic diseases [RCV005264492]|not provided [RCV003717058]benign|uncertain significance12669676826696768Human1name
405244637CV3050721single nucleotide variantNM_006015.6(ARID1A):c.6483G>A (p.Pro2161=)not provided [RCV003720044]benign12678038126780381Humanname
405131113CV3051086single nucleotide variantNM_006015.6(ARID1A):c.4521T>C (p.Asn1507=)not provided [RCV003724836]likely benign12677474826774748Humanname
405173407CV3052451single nucleotide variantNM_006015.6(ARID1A):c.4320A>G (p.Thr1440=)not provided [RCV003728103]benign12677454726774547Humanname
405173419CV3052452single nucleotide variantNM_006015.6(ARID1A):c.5907C>T (p.Thr1969=)not provided [RCV003728104]likely benign12677980526779805Humanname
405174052CV3052565single nucleotide variantNM_006015.6(ARID1A):c.3921G>A (p.Pro1307=)not provided [RCV003728182]likely benign12677363426773634Humanname
405253521CV3054284single nucleotide variantNM_006015.6(ARID1A):c.560G>T (p.Gly187Val)not provided [RCV003722569]benign12669696326696963Humanname
405178239CV3056489single nucleotide variantNM_006015.6(ARID1A):c.484G>A (p.Ala162Thr)not provided [RCV003728536]benign|uncertain significance12669688726696887Humanname
405152677CV3060219single nucleotide variantNM_006015.6(ARID1A):c.5334A>G (p.Glu1778=)not provided [RCV003726508]benign12677923226779232Humanname
405149093CV3063504single nucleotide variantNM_006015.6(ARID1A):c.5871C>T (p.Asp1957=)ARID1A-related disorder [RCV003948978]|not provided [RCV003726285]likely benign12677976926779769Human1name , alternate_id
405202413CV3067060single nucleotide variantNM_006015.6(ARID1A):c.3333A>G (p.Glu1111=)not provided [RCV003730908]likely benign12677125326771253Humanname
405202941CV3067068single nucleotide variantNM_006015.6(ARID1A):c.539G>C (p.Gly180Ala)not provided [RCV003730913]benign12669694226696942Humanname
405243593CV3071930single nucleotide variantNM_006015.6(ARID1A):c.6342G>A (p.Pro2114=)not provided [RCV003737835]likely benign12678024026780240Humanname
405031323CV3077571single nucleotide variantNM_006015.6(ARID1A):c.609C>A (p.His203Gln)not provided [RCV003739170]uncertain significance12669701226697012Humanname
405113864CV3115360single nucleotide variantNM_006015.6(ARID1A):c.3975C>T (p.Pro1325=)not provided [RCV003814042]likely benign12677368826773688Humanname
405113871CV3115361single nucleotide variantNM_006015.6(ARID1A):c.4725A>G (p.Pro1575=)not provided [RCV003814043]benign12677495226774952Humanname
404977107CV3117508single nucleotide variantNM_006015.6(ARID1A):c.353C>T (p.Thr118Met)Inborn genetic diseases [RCV004953560]|not provided [RCV003825280]likely benign|uncertain significance12669675626696756Human1name
405112633CV3118636single nucleotide variantNM_006015.6(ARID1A):c.5586G>A (p.Lys1862=)not provided [RCV003813864]likely benign12677948426779484Humanname
405093470CV3118896single nucleotide variantNM_006015.6(ARID1A):c.359C>G (p.Pro120Arg)not provided [RCV003811347]uncertain significance12669676226696762Humanname
405175791CV3119248single nucleotide variantNM_006015.6(ARID1A):c.3015T>C (p.Asn1005=)not provided [RCV003819533]likely benign12676781626767816Humanname
405215070CV3124444single nucleotide variantNM_006015.6(ARID1A):c.5613C>T (p.His1871=)not provided [RCV003823806]benign12677951126779511Humanname
405215408CV3124571single nucleotide variantNM_006015.6(ARID1A):c.4698G>A (p.Arg1566=)not provided [RCV003823933]likely benign12677492526774925Humanname
402520703CV3126871single nucleotide variantNM_006015.6(ARID1A):c.4170C>T (p.Ser1390=)not provided [RCV003824789]likely benign12677439726774397Humanname
404978615CV3127447single nucleotide variantNM_006015.6(ARID1A):c.5061A>G (p.Ala1687=)not provided [RCV003825671]likely benign12677564426775644Humanname
405113030CV3133691single nucleotide variantNM_006015.6(ARID1A):c.6330C>T (p.Ala2110=)not provided [RCV003836484]likely benign12678022826780228Humanname
405119155CV3134794single nucleotide variantNM_006015.6(ARID1A):c.4884C>T (p.Ala1628=)not provided [RCV003837204]likely benign12677511126775111Humanname
405107335CV3136194single nucleotide variantNM_006015.6(ARID1A):c.563G>A (p.Gly188Asp)not provided [RCV003835540]uncertain significance12669696626696966Humanname
405109110CV3136780single nucleotide variantNM_006015.6(ARID1A):c.4497G>A (p.Gln1499=)not provided [RCV003835934]likely benign12677472426774724Humanname
405109138CV3136785single nucleotide variantNM_006015.6(ARID1A):c.6180C>T (p.Thr2060=)not provided [RCV003835939]benign12678007826780078Humanname
405110907CV3137232single nucleotide variantNM_006015.6(ARID1A):c.757C>T (p.Pro253Ser)Inborn genetic diseases [RCV004366869]|not provided [RCV003836195]likely benign|uncertain significance12669716026697160Human1name
405013806CV3138830single nucleotide variantNM_006015.6(ARID1A):c.491C>T (p.Ala164Val)not provided [RCV003829166]uncertain significance12669689426696894Humanname
405096293CV3139806single nucleotide variantNM_006015.6(ARID1A):c.5625A>C (p.Pro1875=)not provided [RCV003835217]likely benign12677952326779523Humanname
405106096CV3139903single nucleotide variantNM_006015.6(ARID1A):c.5764T>C (p.Leu1922=)not provided [RCV003835314]likely benign12677966226779662Humanname
405070700CV3140220single nucleotide variantNM_006015.6(ARID1A):c.364G>A (p.Gly122Ser)not provided [RCV003833375]uncertain significance12669676726696767Humanname
405231718CV3144503single nucleotide variantNM_006015.6(ARID1A):c.3072G>A (p.Val1024=)not provided [RCV003852956]likely benign12676787326767873Humanname
405057617CV3147800single nucleotide variantNM_006015.6(ARID1A):c.581C>G (p.Pro194Arg)not provided [RCV003850030]benign12669698426696984Humanname
405190374CV3149648single nucleotide variantNM_006015.6(ARID1A):c.3675C>G (p.Ser1225=)not provided [RCV003843374]likely benign12677294726772947Humanname
405169733CV3151568single nucleotide variantNM_006015.6(ARID1A):c.824G>C (p.Gly275Ala)not provided [RCV003857719]uncertain significance12669722726697227Humanname
405173863CV3151926single nucleotide variantNM_006015.6(ARID1A):c.6195C>T (p.Ala2065=)not provided [RCV003858077]likely benign12678009326780093Humanname
405164423CV3153271single nucleotide variantNM_006015.6(ARID1A):c.4197G>A (p.Gln1399=)not provided [RCV003841006]benign12677442426774424Humanname
405141375CV3155319single nucleotide variantNM_006015.6(ARID1A):c.4134C>T (p.Gly1378=)not provided [RCV003855557]likely benign12677436126774361Humanname
405077138CV3156160single nucleotide variantNM_006015.6(ARID1A):c.6225A>G (p.Pro2075=)not provided [RCV003851218]likely benign12678012326780123Humanname
405151047CV3162912single nucleotide variantNM_006015.6(ARID1A):c.4896C>G (p.Pro1632=)not provided [RCV003856355]likely benign12677512326775123Humanname
405130574CV3163636single nucleotide variantNM_006015.6(ARID1A):c.5895C>T (p.Thr1965=)not provided [RCV003854624]likely benign12677979326779793Humanname
405086554CV3167399single nucleotide variantNM_006015.6(ARID1A):c.3813G>A (p.Val1271=)not provided [RCV003851980]likely benign12677344326773443Humanname
405090475CV3167863single nucleotide variantNM_006015.6(ARID1A):c.349C>T (p.Leu117Phe)not provided [RCV003852253]benign|uncertain significance12669675226696752Humanname
405255076CV3175648single nucleotide variantNM_006015.6(ARID1A):c.6472C>A (p.Arg2158=)not provided [RCV003871915]likely benign12678037026780370Humanname
402496533CV3179191single nucleotide variantNM_006015.6(ARID1A):c.3477C>T (p.Asp1159=)not provided [RCV003877458]benign12677257026772570Humanname
405262273CV3194432single nucleotide variantNM_006015.6(ARID1A):c.3159C>T (p.Arg1053=)ARID1A-related disorder [RCV003896460]likely benign12676796026767960Humanname , trait , alternate_id
405273169CV3197686single nucleotide variantNM_006015.6(ARID1A):c.909C>G (p.Ser303Arg)ARID1A-related disorder [RCV003901653]uncertain significance12669731226697312Humanname , trait , alternate_id
405279882CV3200189single nucleotide variantNM_006015.6(ARID1A):c.5199G>A (p.Glu1733=)ARID1A-related disorder [RCV003977113]likely benign12677909726779097Humanname , trait , alternate_id
405291754CV3206051single nucleotide variantNM_006015.6(ARID1A):c.457C>T (p.Pro153Ser)ARID1A-related disorder [RCV003964139]uncertain significance12669686026696860Humanname , trait , alternate_id
405291810CV3206122single nucleotide variantNM_006015.6(ARID1A):c.4356G>A (p.Gln1452=)ARID1A-related disorder [RCV003964193]likely benign12677458326774583Humanname , trait , alternate_id
405272911CV3210253single nucleotide variantNM_006015.6(ARID1A):c.4446C>T (p.Gly1482=)ARID1A-related disorder [RCV003914486]likely benign12677467326774673Humanname , trait , alternate_id
405255788CV3211301single nucleotide variantNM_006015.6(ARID1A):c.3231A>G (p.Ala1077=)ARID1A-related disorder [RCV003939405]likely benign12677115126771151Humanname , trait , alternate_id
405279448CV3217457single nucleotide variantNM_006015.6(ARID1A):c.5544G>A (p.Gly1848=)ARID1A-related disorder [RCV003976866]|not provided [RCV005064911]likely benign12677944226779442Human1name , alternate_id
405289420CV3218270single nucleotide variantNM_006015.6(ARID1A):c.548C>T (p.Ala183Val)ARID1A-related disorder [RCV003983672]|not provided [RCV005103145]uncertain significance12669695126696951Human1name , alternate_id
405271154CV3218919single nucleotide variantNM_006015.6(ARID1A):c.3567T>C (p.Asp1189=)ARID1A-related disorder [RCV003971660]likely benign12677283926772839Humanname , trait , alternate_id
405261338CV3221488single nucleotide variantNM_006015.6(ARID1A):c.6795G>A (p.Pro2265=)ARID1A-related disorder [RCV003966965]likely benign12678069326780693Humanname , trait , alternate_id
405700127CV3279604single nucleotide variantNM_006015.6(ARID1A):c.464G>T (p.Gly155Val)Inborn genetic diseases [RCV004425256]uncertain significance12669686726696867Human1name
405700147CV3279607single nucleotide variantNM_006015.6(ARID1A):c.874A>C (p.Thr292Pro)Inborn genetic diseases [RCV004425259]uncertain significance12669727726697277Human1name
405873316CV3398492single nucleotide variantNM_006015.6(ARID1A):c.312C>A (p.Asn104Lys)not provided [RCV004575988]uncertain significance12669671526696715Humanname
407429555CV3413965single nucleotide variantNM_006015.6(ARID1A):c.961C>T (p.Gln321Ter)Intellectual disability, autosomal dominant 14 [RCV004595375]pathogenic12669736426697364Human1name
407474777CV3483092single nucleotide variantNM_006015.6(ARID1A):c.985C>T (p.Pro329Ser)Inborn genetic diseases [RCV004663107]uncertain significance12669738826697388Human1name
407476515CV3494915single nucleotide variantNM_006015.6(ARID1A):c.493G>T (p.Ala165Ser)not specified [RCV004690816]uncertain significance12669689626696896Humanname
408366227CV3500115single nucleotide variantNM_006015.6(ARID1A):c.343A>C (p.Asn115His)not provided [RCV004722158]uncertain significance12669674626696746Humanname
408371122CV3504646single nucleotide variantNM_006015.6(ARID1A):c.670C>A (p.Pro224Thr)ARID1A-related disorder [RCV004724360]uncertain significance12669707326697073Humanname , trait , alternate_id
408374804CV3507375single nucleotide variantNM_006015.6(ARID1A):c.5337G>A (p.Glu1779=)ARID1A-related disorder [RCV004747474]likely benign12677923526779235Humanname , trait , alternate_id
408375077CV3509374single nucleotide variantNM_006015.6(ARID1A):c.6711G>C (p.Ala2237=)ARID1A-related disorder [RCV004747718]likely benign12678060926780609Humanname , trait , alternate_id
408374310CV3515640single nucleotide variantNM_006015.6(ARID1A):c.752C>T (p.Pro251Leu)ARID1A-related disorder [RCV004746664]uncertain significance12669715526697155Humanname , trait , alternate_id
408389826CV3519064single nucleotide variantNM_006015.6(ARID1A):c.352A>G (p.Thr118Ala)not provided [RCV004762373]uncertain significance12669675526696755Humanname
408393751CV3519900single nucleotide variantNM_006015.6(ARID1A):c.817G>T (p.Ala273Ser)not provided [RCV004764196]uncertain significance12669722026697220Humanname
408386634CV3524137single nucleotide variantNM_006015.6(ARID1A):c.674C>A (p.Pro225His)not provided [RCV004768011]uncertain significance12669707726697077Humanname
596920353CV3534536single nucleotide variantNM_006015.6(ARID1A):c.977G>T (p.Gly326Val)not specified [RCV004782097]uncertain significance12669738026697380Humanname
596945045CV3543692single nucleotide variantNM_006015.6(ARID1A):c.809G>T (p.Arg270Leu)not provided [RCV004801814]uncertain significance12669721226697212Humanname
596947514CV3549071single nucleotide variantNM_006015.6(ARID1A):c.952G>A (p.Gly318Ser)not provided [RCV004811395]uncertain significance12669735526697355Humanname
597706810CV3592569single nucleotide variantNM_006015.6(ARID1A):c.301A>C (p.Lys101Gln)Inborn genetic diseases [RCV004957429]uncertain significance12669670426696704Human1name
597706837CV3592577single nucleotide variantNM_006015.6(ARID1A):c.377G>A (p.Gly126Asp)Inborn genetic diseases [RCV004957433]uncertain significance12669678026696780Human1name
597706844CV3592596single nucleotide variantNM_006015.6(ARID1A):c.352A>C (p.Thr118Pro)Inborn genetic diseases [RCV004957434]likely benign12669675526696755Human1name
597706897CV3592627single nucleotide variantNM_006015.6(ARID1A):c.5055A>G (p.Thr1685=)Inborn genetic diseases [RCV004957442]|not provided [RCV005061537]likely benign12677563826775638Human1name
12848859CV363748single nucleotide variantNM_006015.6(ARID1A):c.472C>T (p.Pro158Ser)Coffin-Siris syndrome [RCV005355711]|Intellectual disability, autosomal dominant 14 [RCV002259923]|not provided [RCV000419589]|not specified [RCV000502239]benign|likely benign12669687526696875Human2name
12837987CV364992single nucleotide variantNM_006015.6(ARID1A):c.670C>G (p.Pro224Ala)not provided [RCV005090701]|not specified [RCV000426142]likely benign|uncertain significance12669707326697073Humanname
597717007CV3733310single nucleotide variantNM_006015.6(ARID1A):c.551T>G (p.Leu184Arg)not provided [RCV005052500]uncertain significance12669695426696954Humanname
597922569CV3738518single nucleotide variantNM_006015.6(ARID1A):c.3699T>C (p.Tyr1233=)not provided [RCV005074926]likely benign12677297126772971Humanname
597867560CV3739082single nucleotide variantNM_006015.6(ARID1A):c.5679C>T (p.Asp1893=)not provided [RCV005068149]likely benign12677957726779577Humanname
597886763CV3741800single nucleotide variantNM_006015.6(ARID1A):c.4551C>G (p.Ala1517=)not provided [RCV005070519]likely benign12677477826774778Humanname
597853319CV3743493single nucleotide variantNM_006015.6(ARID1A):c.3759C>T (p.Asn1253=)not provided [RCV005060843]likely benign12677338926773389Humanname
597878547CV3744387insertionNM_006015.6(ARID1A):c.2878+16_2878+17insTCnot provided [RCV005069601]likely benign12676638226766383Humanname
597931283CV3745942single nucleotide variantNM_006015.6(ARID1A):c.655C>T (p.Arg219Cys)not provided [RCV005075928]uncertain significance12669705826697058Humanname
597861602CV3748798single nucleotide variantNM_006015.6(ARID1A):c.3546C>T (p.Ser1182=)not provided [RCV005067430]likely benign12677281826772818Humanname
597971114CV3750627single nucleotide variantNM_006015.6(ARID1A):c.868A>G (p.Thr290Ala)not provided [RCV005084371]benign12669727126697271Humanname
597971533CV3750758single nucleotide variantNM_006015.6(ARID1A):c.5790A>G (p.Ser1930=)not provided [RCV005084502]likely benign12677968826779688Humanname
597841915CV3752776single nucleotide variantNM_006015.6(ARID1A):c.3336C>T (p.Asp1112=)not provided [RCV005086505]benign12677125626771256Humanname
597962323CV3753677single nucleotide variantNM_006015.6(ARID1A):c.6015A>G (p.Pro2005=)not provided [RCV005081981]likely benign12677991326779913Humanname
597962955CV3753827single nucleotide variantNM_006015.6(ARID1A):c.989C>T (p.Ala330Val)not provided [RCV005082131]uncertain significance12669739226697392Humanname
597954822CV3754126single nucleotide variantNM_006015.6(ARID1A):c.5394A>G (p.Ser1798=)not provided [RCV005080169]likely benign12677929226779292Humanname
597944352CV3754996single nucleotide variantNM_006015.6(ARID1A):c.3498A>G (p.Ala1166=)not provided [RCV005078185]likely benign12677259126772591Humanname
597960378CV3756193single nucleotide variantNM_006015.6(ARID1A):c.6211T>C (p.Leu2071=)not provided [RCV005081510]likely benign12678010926780109Humanname
597952456CV3756630single nucleotide variantNM_006015.6(ARID1A):c.6087A>G (p.Leu2029=)not provided [RCV005079688]likely benign12677998526779985Humanname
597961682CV3756681single nucleotide variantNM_006015.6(ARID1A):c.995T>G (p.Met332Arg)not provided [RCV005081803]uncertain significance12669739826697398Humanname
597939754CV3756842single nucleotide variantNM_006015.6(ARID1A):c.4059C>T (p.Pro1353=)not provided [RCV005077223]likely benign12677385626773856Humanname
597953355CV3757010single nucleotide variantNM_006015.6(ARID1A):c.440C>G (p.Ala147Gly)not provided [RCV005079871]uncertain significance12669684326696843Humanname
597947738CV3759001single nucleotide variantNM_006015.6(ARID1A):c.4965G>A (p.Gln1655=)not provided [RCV005078797]likely benign12677519226775192Humanname
597950102CV3759336single nucleotide variantNM_006015.6(ARID1A):c.6675A>G (p.Pro2225=)not provided [RCV005079133]likely benign12678057326780573Humanname
597909690CV3770276single nucleotide variantNM_006015.6(ARID1A):c.764C>G (p.Ser255Cys)not provided [RCV005113577]uncertain significance12669716726697167Humanname
597909711CV3770278single nucleotide variantNM_006015.6(ARID1A):c.977G>A (p.Gly326Asp)not provided [RCV005113579]benign12669738026697380Humanname
597932182CV3786139single nucleotide variantNM_006015.6(ARID1A):c.4224C>G (p.Ala1408=)not provided [RCV005131847]likely benign12677445126774451Humanname
597972643CV3790438single nucleotide variantNM_006015.6(ARID1A):c.6774G>C (p.Leu2258=)not provided [RCV005142861]likely benign12678067226780672Humanname
597969157CV3791224single nucleotide variantNM_006015.6(ARID1A):c.622C>A (p.Pro208Thr)not provided [RCV005141256]benign12669702526697025Humanname
597954843CV3796089single nucleotide variantNM_006015.6(ARID1A):c.5763C>T (p.Thr1921=)not provided [RCV005136906]likely benign12677966126779661Humanname
597955375CV3796220single nucleotide variantNM_006015.6(ARID1A):c.974C>G (p.Ala325Gly)not provided [RCV005137037]uncertain significance12669737726697377Humanname
597959475CV3797337single nucleotide variantNM_006015.6(ARID1A):c.4821G>A (p.Leu1607=)not provided [RCV005138024]likely benign12677504826775048Humanname
597974576CV3802256single nucleotide variantNM_006015.6(ARID1A):c.470G>T (p.Ser157Ile)not provided [RCV005144033]uncertain significance12669687326696873Humanname
597889807CV3804887single nucleotide variantNM_006015.6(ARID1A):c.908G>C (p.Ser303Thr)Coffin-Siris syndrome [RCV005358227]|not provided [RCV005151149]benign|uncertain significance12669731126697311Human1name
597924782CV3808693single nucleotide variantNM_006015.6(ARID1A):c.807G>T (p.Gln269His)not provided [RCV005156207]uncertain significance12669721026697210Humanname
597896485CV3810546single nucleotide variantNM_006015.6(ARID1A):c.424G>T (p.Ala142Ser)not provided [RCV005152071]uncertain significance12669682726696827Humanname
597920589CV3811805single nucleotide variantNM_006015.6(ARID1A):c.775G>C (p.Ala259Pro)not provided [RCV005155636]uncertain significance12669717826697178Humanname
597961233CV3812088single nucleotide variantNM_006015.6(ARID1A):c.958C>T (p.Pro320Ser)not provided [RCV005163741]uncertain significance12669736126697361Humanname
597944095CV3812455single nucleotide variantNM_006015.6(ARID1A):c.890A>T (p.Gln297Leu)not provided [RCV005159665]benign12669729326697293Humanname
597875239CV3813093single nucleotide variantNM_006015.6(ARID1A):c.835C>T (p.Pro279Ser)not provided [RCV005149029]benign12669723826697238Humanname
597877155CV3813350single nucleotide variantNM_006015.6(ARID1A):c.4617C>T (p.Ala1539=)not provided [RCV005149286]benign12677484426774844Humanname
597865391CV3823317single nucleotide variantNM_006015.6(ARID1A):c.356A>G (p.Glu119Gly)not provided [RCV005175667]benign12669675926696759Humanname
597860172CV3826006single nucleotide variantNM_006015.6(ARID1A):c.755C>T (p.Pro252Leu)not provided [RCV005174904]uncertain significance12669715826697158Humanname
597837171CV3828730single nucleotide variantNM_006015.6(ARID1A):c.4722C>G (p.Pro1574=)not provided [RCV005171423]likely benign12677494926774949Humanname
597837178CV3828731single nucleotide variantNM_006015.6(ARID1A):c.5772G>A (p.Glu1924=)not provided [RCV005171424]likely benign12677967026779670Humanname
597975946CV3828992single nucleotide variantNM_006015.6(ARID1A):c.731C>T (p.Ala244Val)not provided [RCV005169441]likely benign12669713426697134Humanname
597976182CV3829193single nucleotide variantNM_006015.6(ARID1A):c.658A>G (p.Ser220Gly)not provided [RCV005169642]uncertain significance12669706126697061Humanname
597927358CV3836937single nucleotide variantNM_006015.6(ARID1A):c.5577C>T (p.Phe1859=)not provided [RCV005185288]likely benign12677947526779475Humanname
597929838CV3837461single nucleotide variantNM_006015.6(ARID1A):c.788C>T (p.Ser263Phe)not provided [RCV005185619]uncertain significance12669719126697191Humanname
597956305CV3838183single nucleotide variantNM_006015.6(ARID1A):c.4623C>T (p.His1541=)not provided [RCV005191558]likely benign12677485026774850Humanname
597956310CV3838184single nucleotide variantNM_006015.6(ARID1A):c.5463T>C (p.Asp1821=)not provided [RCV005191559]likely benign12677936126779361Humanname
597955540CV3841261single nucleotide variantNM_006015.6(ARID1A):c.535C>T (p.Pro179Ser)not provided [RCV005191380]benign12669693826696938Humanname
597934326CV3844856single nucleotide variantNM_006015.6(ARID1A):c.4932C>T (p.Gly1644=)not provided [RCV005186362]likely benign12677515926775159Humanname
597916241CV3845688single nucleotide variantNM_006015.6(ARID1A):c.392G>C (p.Gly131Ala)not provided [RCV005183483]|not specified [RCV005241118]uncertain significance12669679526696795Humanname
597951161CV3847112single nucleotide variantNM_006015.6(ARID1A):c.794C>T (p.Ser265Phe)not provided [RCV005190284]likely benign12669719726697197Humanname
597958491CV3849137single nucleotide variantNM_006015.6(ARID1A):c.662C>T (p.Ala221Val)not provided [RCV005192138]benign12669706526697065Humanname
597912370CV3850664single nucleotide variantNM_006015.6(ARID1A):c.6615C>T (p.Ala2205=)not provided [RCV005203812]benign12678051326780513Humanname
597904937CV3853046single nucleotide variantNM_006015.6(ARID1A):c.6808T>C (p.Leu2270=)not provided [RCV005202703]likely benign12678070626780706Humanname
597899633CV3854700single nucleotide variantNM_006015.6(ARID1A):c.3144T>C (p.Pro1048=)not provided [RCV005201808]likely benign12676794526767945Humanname
597886540CV3854967single nucleotide variantNM_006015.6(ARID1A):c.4209G>A (p.Gln1403=)not provided [RCV005199813]likely benign12677443626774436Humanname
597922004CV3861858single nucleotide variantNM_006015.6(ARID1A):c.5640G>A (p.Lys1880=)not provided [RCV005205234]likely benign12677953826779538Humanname
598129479CV3888778single nucleotide variantNM_006015.6(ARID1A):c.407C>A (p.Pro136His)not provided [RCV005244952]uncertain significance12669681026696810Humanname
598161887CV3897933single nucleotide variantNM_006015.6(ARID1A):c.847G>A (p.Gly283Ser)Inborn genetic diseases [RCV005261273]uncertain significance12669725026697250Human1name
8568250CV39248deletionNM_006015.6(ARID1A):c.31_56del (p.Ser11fs)Coffin-Siris syndrome 1 [RCV003314556]|Intellectual disability, autosomal dominant 14 [RCV000023227]|not provided [RCV000480869]pathogenic12669642226696447Human2name
616933430CV4011497single nucleotide variantNM_006015.6(ARID1A):c.494C>T (p.Ala165Val)not specified [RCV005407578]uncertain significance12669689726696897Humanname
616939626CV4014123single nucleotide variantNM_006015.6(ARID1A):c.6414A>G (p.Thr2138=)not provided [RCV005413615]likely benign12678031226780312Humanname
12905514CV413226single nucleotide variantNM_006015.6(ARID1A):c.6267A>C (p.Leu2089=)not provided [RCV000487594]uncertain significance12678016526780165Humanname
13215338CV427770single nucleotide variantNM_006015.6(ARID1A):c.326C>T (p.Pro109Leu)not provided [RCV002524156]|not specified [RCV000502382]likely benign|uncertain significance12669672926696729Humanname
13216225CV427771single nucleotide variantNM_006015.6(ARID1A):c.358C>T (p.Pro120Ser)ARID1A-related disorder [RCV003972823]|not provided [RCV001724030]|not specified [RCV000503505]benign|uncertain significance12669676126696761Human1name , alternate_id
13215434CV427774single nucleotide variantNM_006015.6(ARID1A):c.750G>C (p.Lys250Asn)not specified [RCV000502510]uncertain significance12669715326697153Humanname
13213995CV427787single nucleotide variantNM_006015.6(ARID1A):c.3408G>A (p.Ala1136=)ARID1A-related disorder [RCV003960149]|Intellectual disability, autosomal dominant 14 [RCV000765105]|not provided [RCV001709657]|not specified [RCV000500706]benign|likely benign|uncertain significance12677250126772501Human1name , alternate_id
13215926CV427789single nucleotide variantNM_006015.6(ARID1A):c.3762C>T (p.Gly1254=)ARID1A-related disorder [RCV003972822]|Intellectual disability, autosomal dominant 14 [RCV002259975]|not provided [RCV001662490]|not specified [RCV000503125]benign|likely benign12677339226773392Human1name , alternate_id
13213381CV427790single nucleotide variantNM_006015.6(ARID1A):c.3975C>G (p.Pro1325=)not provided [RCV001731723]|not specified [RCV000499876]likely benign12677368826773688Humanname
13214773CV427792single nucleotide variantNM_006015.6(ARID1A):c.4986A>G (p.Lys1662=)not specified [RCV000501679]likely benign12677521326775213Humanname
13216159CV427793single nucleotide variantNM_006015.6(ARID1A):c.5076C>T (p.Asn1692=)ARID1A-related disorder [RCV003900038]|Intellectual disability, autosomal dominant 14 [RCV002259976]|not provided [RCV001692146]|not specified [RCV000503416]benign|likely benign12677565926775659Human1name , alternate_id
13214851CV427796single nucleotide variantNM_006015.6(ARID1A):c.5442A>G (p.Val1814=)not specified [RCV000501783]likely benign12677934026779340Humanname
13518632CV485993single nucleotide variantNM_006015.6(ARID1A):c.5655A>C (p.Ala1885=)not provided [RCV000584964]uncertain significance12677955326779553Humanname
13528871CV508769single nucleotide variantNM_006015.6(ARID1A):c.3702C>T (p.Gly1234=)Intellectual disability, autosomal dominant 14 [RCV000612410]|not provided [RCV001727776]likely benign|uncertain significance12677297426772974Human1name
15177457CV696662single nucleotide variantNM_006015.6(ARID1A):c.3792C>T (p.Ala1264=)ARID1A-related disorder [RCV003903218]|Intellectual disability, autosomal dominant 14 [RCV002260118]|not provided [RCV000951047]benign|likely benign12677342226773422Human1name , alternate_id
15179618CV732356single nucleotide variantNM_006015.6(ARID1A):c.3765G>A (p.Gly1255=)not provided [RCV000907156]likely benign12677339526773395Humanname
15141523CV780666single nucleotide variantNM_006015.6(ARID1A):c.3912C>A (p.Ala1304=)not provided [RCV000982994]likely benign12677362526773625Humanname
21070325CV789958single nucleotide variantNM_006015.6(ARID1A):c.592C>T (p.Pro198Ser)Intellectual disability, autosomal dominant 14 [RCV000986280]|not provided [RCV002549663]benign|uncertain significance12669699526696995Human1name
21071374CV794656single nucleotide variantNM_006015.6(ARID1A):c.4053C>T (p.Gly1351=)Intellectual disability, autosomal dominant 14 [RCV002260130]|not provided [RCV000993959]|not specified [RCV001819704]benign|likely benign12677385026773850Human1name
26922039CV823869single nucleotide variantNM_006015.6(ARID1A):c.500C>T (p.Ala167Val)Autism spectrum disorder [RCV003127604]|not provided [RCV001051325]likely benign|uncertain significance12669690326696903Human2name
28880083CV858939single nucleotide variantNM_006015.6(ARID1A):c.446G>A (p.Gly149Asp)not provided [RCV001090916]uncertain significance12669684926696849Humanname
38596536CV963481single nucleotide variantNM_006015.6(ARID1A):c.458C>T (p.Pro153Leu)Intellectual disability [RCV001251891]|not provided [RCV002570474]likely benign|uncertain significance12669686126696861Human2name
38596537CV963482single nucleotide variantNM_006015.6(ARID1A):c.581C>T (p.Pro194Leu)Intellectual disability [RCV001251892]|Intellectual disability, autosomal dominant 14 [RCV002260149]|not provided [RCV001571282]benign|likely benign12669698426696984Human3name
40816234CV969146single nucleotide variantNM_006015.6(ARID1A):c.943G>A (p.Asp315Asn)not provided [RCV003574866]|not specified [RCV001260449]benign|uncertain significance12669734626697346Humanname
40887652CV973197single nucleotide variantNM_006015.6(ARID1A):c.895C>T (p.Leu299Phe)Inborn genetic diseases [RCV001267252]uncertain significance12669729826697298Human1name
8686873CV137295single nucleotide variantNM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro)Intellectual disability, autosomal dominant 14 [RCV002259636]|not provided [RCV000224299]|not specified [RCV000120069]benign|likely benign|not provided12676105826761058Human1name
155267290CV1696602single nucleotide variantNM_006015.6(ARID1A):c.1652A>T (p.Tyr551Phe)not provided [RCV002281460]uncertain significance12673145326731453Humanname
155266650CV1699218single nucleotide variantNM_006015.6(ARID1A):c.2011G>A (p.Gly671Arg)not provided [RCV002283013]uncertain significance12676094626760946Humanname
155642494CV1707432single nucleotide variantNM_006015.6(ARID1A):c.1522C>T (p.Pro508Ser)Intellectual disability, autosomal dominant 14 [RCV002288362]uncertain significance12673132326731323Human1name
155741686CV1770489single nucleotide variantNM_006015.6(ARID1A):c.2248C>T (p.Arg750Ter)Hepatocellular carcinoma [RCV002302714]pathogenic12676147026761470Human1name
155741832CV1770604deletionNM_006015.6(ARID1A):c.3524del (p.Pro1175fs)Hepatocellular carcinoma [RCV002302829]pathogenic12677261226772612Human1name
155708459CV1772813single nucleotide variantNM_006015.6(ARID1A):c.2359T>C (p.Ser787Pro)not provided [RCV002300454]uncertain significance12676225926762259Humanname
155719812CV1775599single nucleotide variantNM_006015.6(ARID1A):c.1951A>C (p.Met651Leu)not provided [RCV002301241]benign|uncertain significance12676088626760886Humanname
155797904CV1784681deletionNM_006015.6(ARID1A):c.5911del (p.Leu1971fs)Lung cancer [RCV002465201]pathogenic12677980926779809Human1name
155737827CV1816395single nucleotide variantNM_006015.6(ARID1A):c.1251C>G (p.Tyr417Ter)Inborn genetic diseases [RCV002409998]pathogenic12672976426729764Human1name
155801548CV1866741single nucleotide variantNM_006015.6(ARID1A):c.2096C>G (p.Pro699Arg)not provided [RCV002505952]uncertain significance12676103126761031Humanname
156359384CV1908304single nucleotide variantNM_006015.6(ARID1A):c.1562A>G (p.Gln521Arg)not provided [RCV002602389]uncertain significance12673136326731363Humanname
156299457CV1919874single nucleotide variantNM_006015.6(ARID1A):c.1011G>T (p.Trp337Cys)not provided [RCV002599097]|not specified [RCV004526966]uncertain significance12669741426697414Humanname
156201492CV1925620single nucleotide variantNM_006015.6(ARID1A):c.2098G>A (p.Val700Ile)not provided [RCV002643648]uncertain significance12676103326761033Humanname
156443828CV1941097single nucleotide variantNM_006015.6(ARID1A):c.2650T>C (p.Cys884Arg)not provided [RCV003114737]uncertain significance12676320326763203Humanname
156115410CV1952306single nucleotide variantNM_006015.6(ARID1A):c.2347A>G (p.Thr783Ala)not provided [RCV002571654]benign12676224726762247Humanname
156248585CV1953676single nucleotide variantNM_006015.6(ARID1A):c.1738C>A (p.Pro580Thr)not provided [RCV002576465]likely benign12673153926731539Humanname
156417295CV1970311single nucleotide variantNM_006015.6(ARID1A):c.2836C>A (p.Pro946Thr)not provided [RCV002590115]likely benign12676632426766324Humanname
156344985CV1981847single nucleotide variantNM_006015.6(ARID1A):c.2812G>A (p.Ala938Thr)not provided [RCV002631631]likely benign12676630026766300Humanname
156137407CV2032776single nucleotide variantNM_006015.6(ARID1A):c.1280C>T (p.Pro427Leu)not provided [RCV002740778]likely benign12672979326729793Humanname
156170326CV2041527single nucleotide variantNM_006015.6(ARID1A):c.1942G>A (p.Asp648Asn)not provided [RCV002741840]likely benign12676087726760877Humanname
156349290CV2069350single nucleotide variantNM_006015.6(ARID1A):c.2312T>C (p.Leu771Ser)not provided [RCV002811659]uncertain significance12676221226762212Humanname
156220010CV2104741single nucleotide variantNM_006015.6(ARID1A):c.2804A>G (p.Asn935Ser)not provided [RCV002932418]likely benign12676629226766292Humanname
156217533CV2128065single nucleotide variantNM_006015.6(ARID1A):c.2594A>G (p.Asn865Ser)not provided [RCV002958006]likely benign12676314726763147Humanname
156232878CV2137144single nucleotide variantNM_006015.6(ARID1A):c.2180G>T (p.Arg727Leu)not provided [RCV003007808]uncertain significance12676140226761402Humanname
156118650CV2151448single nucleotide variantNM_006015.6(ARID1A):c.2983T>C (p.Ser995Pro)not provided [RCV003002889]uncertain significance12676656126766561Humanname
156248281CV2192620single nucleotide variantNM_006015.6(ARID1A):c.1861A>T (p.Ser621Cys)not provided [RCV003059925]uncertain significance12673273326732733Humanname
156262847CV2201120single nucleotide variantNM_006015.6(ARID1A):c.2571G>T (p.Arg857Ser)Inborn genetic diseases [RCV002669061]uncertain significance12676312426763124Human1name
156150721CV2213098single nucleotide variantNM_006015.6(ARID1A):c.2267A>G (p.Asn756Ser)Inborn genetic diseases [RCV002697628]uncertain significance12676216726762167Human1name
156229736CV2234998single nucleotide variantNM_006015.6(ARID1A):c.2318C>T (p.Pro773Leu)Inborn genetic diseases [RCV002767576]|not provided [RCV005059256]likely benign12676221826762218Human1name
156361958CV2265448single nucleotide variantNM_006015.6(ARID1A):c.2309C>T (p.Ala770Val)Inborn genetic diseases [RCV002812960]uncertain significance12676220926762209Human1name
156439920CV2401602single nucleotide variantNM_006015.6(ARID1A):c.1124C>A (p.Ala375Asp)not provided [RCV003109890]uncertain significance12669752726697527Humanname
243051914CV2418197single nucleotide variantNM_006015.6(ARID1A):c.2660C>T (p.Pro887Leu)Clonal Cytopenia of Undetermined Significance [RCV003153263]uncertain significance12676321326763213Humanname
329377104CV2435810single nucleotide variantNM_006015.6(ARID1A):c.2948A>G (p.Asn983Ser)Inborn genetic diseases [RCV003174393]uncertain significance12676652626766526Human1name
329393401CV2466929single nucleotide variantNM_006015.6(ARID1A):c.1063C>A (p.Gln355Lys)Inborn genetic diseases [RCV003218265]uncertain significance12669746626697466Human1name
329350535CV2477375single nucleotide variantNM_006015.6(ARID1A):c.1849T>C (p.Ser617Pro)not provided [RCV003221700]uncertain significance12673272126732721Humanname
329848281CV2667900single nucleotide variantNM_006015.6(ARID1A):c.2345A>G (p.His782Arg)Inborn genetic diseases [RCV003358158]|not provided [RCV003229467]uncertain significance12676224526762245Human1name
401750771CV2712136single nucleotide variantNM_006015.6(ARID1A):c.1844C>T (p.Ala615Val)Inborn genetic diseases [RCV003276841]uncertain significance12673271626732716Human1name
401799014CV2741589single nucleotide variantNM_006015.6(ARID1A):c.2237T>C (p.Ile746Thr)not provided [RCV003322997]uncertain significance12676145926761459Humanname
401828665CV2743000single nucleotide variantNM_006015.6(ARID1A):c.2099T>G (p.Val700Gly)not provided [RCV003325708]uncertain significance12676103426761034Humanname
401870938CV2749446single nucleotide variantNM_006015.6(ARID1A):c.1275G>T (p.Gln425His)ARID1A-related disorder [RCV003420660]|not provided [RCV003332574]uncertain significance12672978826729788Human1name , alternate_id
401873772CV2749812single nucleotide variantNM_006015.6(ARID1A):c.1813C>T (p.Gln605Ter)Malignant tumor of urinary bladder [RCV003332940]pathogenic12673268526732685Human2name
401873774CV2749813single nucleotide variantNM_006015.6(ARID1A):c.2434C>T (p.Gln812Ter)Malignant tumor of urinary bladder [RCV003332941]pathogenic12676298726762987Human2name
401873790CV2749823single nucleotide variantNM_006015.6(ARID1A):c.2632C>T (p.Gln878Ter)Malignant tumor of urinary bladder [RCV003332951]pathogenic12676318526763185Human2name
401873814CV2749834single nucleotide variantNM_006015.6(ARID1A):c.1210C>T (p.Gln404Ter)Malignant tumor of urinary bladder [RCV003332962]pathogenic12672972326729723Human2name
401873817CV2749835single nucleotide variantNM_006015.6(ARID1A):c.1585C>T (p.Gln529Ter)Malignant tumor of urinary bladder [RCV003332963]pathogenic12673138626731386Human2name
401873818CV2749836single nucleotide variantNM_006015.6(ARID1A):c.2008C>T (p.Gln670Ter)Malignant tumor of urinary bladder [RCV003332964]pathogenic12676094326760943Human2name
401873821CV2749837single nucleotide variantNM_006015.6(ARID1A):c.2272C>T (p.Gln758Ter)Malignant tumor of urinary bladder [RCV003332965]pathogenic12676217226762172Human2name
401873822CV2749838single nucleotide variantNM_006015.6(ARID1A):c.2323C>T (p.Gln775Ter)Malignant tumor of urinary bladder [RCV003332966]pathogenic12676222326762223Human2name
401873824CV2749839single nucleotide variantNM_006015.6(ARID1A):c.2683C>T (p.Gln895Ter)Malignant tumor of urinary bladder [RCV003332967]pathogenic12676323626763236Human2name
401873841CV2749849duplicationNM_006015.6(ARID1A):c.3105dup (p.Met1036fs)Malignant tumor of urinary bladder [RCV003332977]uncertain significance12676790426767905Human2name
401923200CV2796708single nucleotide variantNM_006015.6(ARID1A):c.2534C>A (p.Pro845His)ARID1A-related disorder [RCV003404327]uncertain significance12676308726763087Humanname , trait , alternate_id
401926731CV2798747single nucleotide variantNM_006015.6(ARID1A):c.1883T>C (p.Met628Thr)ARID1A-related disorder [RCV003406028]|not provided [RCV003406027]conflicting interpretations of pathogenicity|uncertain significance12673275526732755Human1name , alternate_id
401921643CV2802606single nucleotide variantNM_006015.6(ARID1A):c.1163G>A (p.Gly388Asp)ARID1A-related disorder [RCV003403014]uncertain significance12672967626729676Humanname , trait , alternate_id
401923831CV2803561single nucleotide variantNM_006015.6(ARID1A):c.2450C>T (p.Ala817Val)ARID1A-related disorder [RCV003404553]uncertain significance12676300326763003Humanname , trait , alternate_id
401923834CV2803564single nucleotide variantNM_006015.6(ARID1A):c.2269C>G (p.Pro757Ala)ARID1A-related disorder [RCV003404554]|not provided [RCV003778235]uncertain significance12676216926762169Human1name , alternate_id
401931494CV2803629single nucleotide variantNM_006015.6(ARID1A):c.2492G>A (p.Gly831Asp)ARID1A-related disorder [RCV003408328]uncertain significance12676304526763045Humanname , trait , alternate_id
401902200CV2804297single nucleotide variantNM_006015.6(ARID1A):c.1133C>T (p.Pro378Leu)ARID1A-related disorder [RCV003418807]uncertain significance12669753626697536Humanname , trait , alternate_id
401932649CV2804312single nucleotide variantNM_006015.6(ARID1A):c.1135C>T (p.Gln379Ter)ARID1A-related disorder [RCV003408736]likely pathogenic12669753826697538Humanname , trait , alternate_id
401925076CV2805226single nucleotide variantNM_006015.6(ARID1A):c.1357C>T (p.Pro453Ser)not specified [RCV003405047]uncertain significance12673115826731158Humanname
405169292CV2854157single nucleotide variantNM_006015.6(ARID1A):c.2066T>A (p.Leu689Gln)not provided [RCV003542035]likely benign12676100126761001Humanname
405044517CV2859811single nucleotide variantNM_006015.6(ARID1A):c.2560C>G (p.Pro854Ala)not provided [RCV003579357]likely benign12676311326763113Humanname
405220766CV2870268duplicationNM_006015.6(ARID1A):c.6207dup (p.Gln2070fs)not provided [RCV003553707]pathogenic12678010126780102Humanname
405070121CV2876429single nucleotide variantNM_006015.6(ARID1A):c.1840T>G (p.Ser614Ala)not provided [RCV003548478]likely benign12673271226732712Humanname
405120325CV2887929single nucleotide variantNM_006015.6(ARID1A):c.1733C>T (p.Ala578Val)not provided [RCV003559022]benign12673153426731534Humanname
405232504CV2896446single nucleotide variantNM_006015.6(ARID1A):c.2752A>G (p.Met918Val)Inborn genetic diseases [RCV005264449]|not provided [RCV003555746]likely benign|uncertain significance12676624026766240Human1name
402481210CV2910997single nucleotide variantNM_006015.6(ARID1A):c.1244A>G (p.His415Arg)not provided [RCV003572052]likely benign12672975726729757Humanname
405210959CV2921030single nucleotide variantNM_006015.6(ARID1A):c.2064C>A (p.His688Gln)not provided [RCV003567159]uncertain significance12676099926760999Humanname
402483900CV2922257single nucleotide variantNM_006015.6(ARID1A):c.1694C>A (p.Pro565His)not provided [RCV003572348]uncertain significance12673149526731495Humanname
405032466CV2922599single nucleotide variantNM_006015.6(ARID1A):c.1574C>T (p.Pro525Leu)not provided [RCV003578462]uncertain significance12673137526731375Humanname
402470039CV2931042single nucleotide variantNM_006015.6(ARID1A):c.2021G>A (p.Ser674Asn)not provided [RCV003570143]uncertain significance12676095626760956Humanname
402518298CV2936595single nucleotide variantNM_006015.6(ARID1A):c.1240G>A (p.Gly414Arg)not provided [RCV003663114]uncertain significance12672975326729753Humanname
405220209CV2969629single nucleotide variantNM_006015.6(ARID1A):c.2624T>G (p.Met875Arg)not provided [RCV003680565]uncertain significance12676317726763177Humanname
405189554CV2987883single nucleotide variantNM_006015.6(ARID1A):c.2289T>A (p.Ser763Arg)not provided [RCV003706341]uncertain significance12676218926762189Humanname
404995602CV2996227single nucleotide variantNM_006015.6(ARID1A):c.1966G>T (p.Ala656Ser)not provided [RCV003692677]|not specified [RCV005240864]uncertain significance12676090126760901Humanname
405042501CV3007658single nucleotide variantNM_006015.6(ARID1A):c.1337C>G (p.Ser446Cys)not provided [RCV003696432]uncertain significance12672985026729850Humanname
405124128CV3021117single nucleotide variantNM_006015.6(ARID1A):c.1262C>T (p.Pro421Leu)not provided [RCV003701069]likely benign12672977526729775Humanname
405203888CV3057909single nucleotide variantNM_006015.6(ARID1A):c.1759T>G (p.Ser587Ala)not provided [RCV003731084]benign12673156026731560Humanname
405160316CV3062422single nucleotide variantNM_006015.6(ARID1A):c.2357G>T (p.Gly786Val)not provided [RCV003727049]uncertain significance12676225726762257Humanname
405040296CV3063883single nucleotide variantNM_006015.6(ARID1A):c.2750A>G (p.Asn917Ser)not provided [RCV003739864]benign12676623826766238Humanname
405214726CV3066502single nucleotide variantNM_006015.6(ARID1A):c.2530C>A (p.Gln844Lys)not provided [RCV003732483]likely benign12676308326763083Humanname
405206005CV3068297single nucleotide variantNM_006015.6(ARID1A):c.2754G>C (p.Met918Ile)not provided [RCV003731317]uncertain significance12676624226766242Humanname
405046671CV3071673single nucleotide variantNM_006015.6(ARID1A):c.2516G>T (p.Gly839Val)Inborn genetic diseases [RCV004661760]|not provided [RCV003740301]likely benign12676306926763069Human1name
405033204CV3075146single nucleotide variantNM_006015.6(ARID1A):c.2393C>T (p.Pro798Leu)not provided [RCV003739303]likely benign12676229326762293Humanname
405204259CV3116921single nucleotide variantNM_006015.6(ARID1A):c.1130C>T (p.Thr377Ile)not provided [RCV003822405]benign12669753326697533Humanname
405182637CV3123984single nucleotide variantNM_006015.6(ARID1A):c.2470C>T (p.Pro824Ser)not provided [RCV003820180]benign12676302326763023Humanname
405164045CV3125242single nucleotide variantNM_006015.6(ARID1A):c.2798G>T (p.Gly933Val)not provided [RCV003818514]benign12676628626766286Humanname
405012409CV3128189single nucleotide variantNM_006015.6(ARID1A):c.1132C>T (p.Pro378Ser)not provided [RCV003829069]benign12669753526697535Humanname
405059369CV3129428single nucleotide variantNM_006015.6(ARID1A):c.1313C>T (p.Ala438Val)Inborn genetic diseases [RCV004366839]|not provided [RCV003832697]benign|uncertain significance12672982626729826Human1name
405024657CV3132998single nucleotide variantNM_006015.6(ARID1A):c.2860A>G (p.Met954Val)not provided [RCV003830145]uncertain significance12676634826766348Humanname
405108968CV3136755single nucleotide variantNM_006015.6(ARID1A):c.2135G>C (p.Gly712Ala)not provided [RCV003835909]uncertain significance12676107026761070Humanname
405044590CV3141562single nucleotide variantNM_006015.6(ARID1A):c.2560C>A (p.Pro854Thr)not provided [RCV003831663]uncertain significance12676311326763113Humanname
405190592CV3149564single nucleotide variantNM_006015.6(ARID1A):c.2332G>A (p.Gly778Arg)not provided [RCV003843290]uncertain significance12676223226762232Humanname
405136051CV3164320single nucleotide variantNM_006015.6(ARID1A):c.2741G>C (p.Gly914Ala)not provided [RCV003855115]likely benign12676622926766229Humanname
405086398CV3167338single nucleotide variantNM_006015.6(ARID1A):c.1693C>T (p.Pro565Ser)not provided [RCV003851919]likely benign12673149426731494Humanname
402466824CV3177784single nucleotide variantNM_006015.6(ARID1A):c.1284G>C (p.Gln428His)not provided [RCV003873222]likely benign12672979726729797Humanname
405265476CV3185692single nucleotide variantNM_006015.6(ARID1A):c.1116G>C (p.Gln372His)not provided [RCV003886256]uncertain significance12669751926697519Humanname
405259521CV3186305single nucleotide variantNM_006015.6(ARID1A):c.1469C>T (p.Pro490Leu)not provided [RCV003884064]likely benign12673127026731270Humanname
405268711CV3187109single nucleotide variantNM_006015.6(ARID1A):c.1616C>T (p.Ser539Leu)not provided [RCV003887192]likely benign12673141726731417Humanname
405260159CV3190202single nucleotide variantNM_006015.6(ARID1A):c.1028C>A (p.Ala343Glu)ARID1A-related disorder [RCV003894603]uncertain significance12669743126697431Humanname , trait , alternate_id
405288883CV3193855single nucleotide variantNM_006015.6(ARID1A):c.1640G>C (p.Ser547Thr)ARID1A-related disorder [RCV003983357]uncertain significance12673144126731441Humanname , trait , alternate_id
405269258CV3201246duplicationNM_006015.6(ARID1A):c.5624dup (p.Pro1876fs)ARID1A-related disorder [RCV003899352]pathogenic12677951926779520Humanname , trait , alternate_id
405289152CV3218124single nucleotide variantNM_006015.6(ARID1A):c.2621A>G (p.Asn874Ser)ARID1A-related disorder [RCV003983526]likely benign12676317426763174Humanname , trait , alternate_id
405289253CV3218179single nucleotide variantNM_006015.6(ARID1A):c.2150C>T (p.Ala717Val)ARID1A-related disorder [RCV003983581]|not provided [RCV005064926]uncertain significance12676108526761085Human1name , alternate_id
405265937CV3220989single nucleotide variantNM_006015.6(ARID1A):c.2195A>G (p.Gln732Arg)ARID1A-related disorder [RCV003969132]uncertain significance12676141726761417Humanname , trait , alternate_id
405700109CV3279601single nucleotide variantNM_006015.6(ARID1A):c.1071C>G (p.Ser357Arg)Inborn genetic diseases [RCV004425253]uncertain significance12669747426697474Human1name
405700115CV3279602single nucleotide variantNM_006015.6(ARID1A):c.1951A>G (p.Met651Val)Inborn genetic diseases [RCV004425254]uncertain significance12676088626760886Human1name
405700122CV3279603single nucleotide variantNM_006015.6(ARID1A):c.2589G>A (p.Met863Ile)Inborn genetic diseases [RCV004425255]uncertain significance12676314226763142Human1name
405854928CV3395057single nucleotide variantNM_006015.6(ARID1A):c.1507C>T (p.Gln503Ter)Intellectual disability, autosomal dominant 14 [RCV004555199]pathogenic12673130826731308Human1name
407426451CV3409952single nucleotide variantNM_006015.6(ARID1A):c.2893C>G (p.Pro965Ala)not provided [RCV004585884]uncertain significance12676647126766471Humanname
407474748CV3483081single nucleotide variantNM_006015.6(ARID1A):c.2561C>T (p.Pro854Leu)Inborn genetic diseases [RCV004663100]uncertain significance12676311426763114Human1name
407509485CV3496474single nucleotide variantNM_006015.6(ARID1A):c.2834G>T (p.Gly945Val)not provided [RCV004698315]uncertain significance12676632226766322Humanname
408381179CV3501420single nucleotide variantNM_006015.6(ARID1A):c.2287A>G (p.Ser763Gly)not provided [RCV004727509]uncertain significance12676218726762187Humanname
408374090CV3502249single nucleotide variantNM_006015.6(ARID1A):c.1244A>T (p.His415Leu)not provided [RCV004725836]uncertain significance12672975726729757Humanname
408373776CV3502348single nucleotide variantNM_006015.6(ARID1A):c.1210C>G (p.Gln404Glu)not provided [RCV004725935]uncertain significance12672972326729723Humanname
408382352CV3504517single nucleotide variantNM_006015.6(ARID1A):c.1826G>A (p.Gly609Glu)ARID1A-related disorder [RCV004729820]uncertain significance12673269826732698Humanname , trait , alternate_id
408375022CV3509363single nucleotide variantNM_006015.6(ARID1A):c.1075C>T (p.His359Tyr)ARID1A-related disorder [RCV004747716]uncertain significance12669747826697478Humanname , trait , alternate_id
408373710CV3511568single nucleotide variantNM_006015.6(ARID1A):c.2735C>T (p.Pro912Leu)ARID1A-related disorder [RCV004745628]|not provided [RCV005059834]likely benign|uncertain significance12676622326766223Human1name , alternate_id
408391019CV3521156single nucleotide variantNM_006015.6(ARID1A):c.1846C>T (p.Pro616Ser)not provided [RCV004762978]uncertain significance12673271826732718Humanname
408388418CV3527492single nucleotide variantNM_006015.6(ARID1A):c.2570G>C (p.Arg857Thr)not provided [RCV004773796]uncertain significance12676312326763123Humanname
408385961CV3528764single nucleotide variantNM_006015.6(ARID1A):c.2072G>A (p.Gly691Asp)not provided [RCV004772597]uncertain significance12676100726761007Humanname
596923435CV3530420single nucleotide variantNM_006015.6(ARID1A):c.1201T>C (p.Tyr401His)not provided [RCV004777019]uncertain significance12672971426729714Humanname
596926208CV3536160single nucleotide variantNM_006015.6(ARID1A):c.2019G>T (p.Gln673His)Intellectual disability, autosomal dominant 14 [RCV004788590]uncertain significance12676095426760954Human1name
596928966CV3540664single nucleotide variantNM_006015.6(ARID1A):c.2557C>T (p.Leu853Phe)not provided [RCV004794992]uncertain significance12676311026763110Humanname
596947376CV3548929single nucleotide variantNM_006015.6(ARID1A):c.1120C>T (p.Leu374Phe)not provided [RCV004811253]uncertain significance12669752326697523Humanname
597706872CV3592618single nucleotide variantNM_006015.6(ARID1A):c.1088G>A (p.Ser363Asn)Inborn genetic diseases [RCV004957438]uncertain significance12669749126697491Human1name
597706903CV3592638single nucleotide variantNM_006015.6(ARID1A):c.2110G>T (p.Ala704Ser)Inborn genetic diseases [RCV004957443]uncertain significance12676104526761045Human1name
597660627CV3712681single nucleotide variantNM_006015.6(ARID1A):c.2943G>A (p.Met981Ile)Intellectual disability, autosomal dominant 14 [RCV005028444]uncertain significance12676652126766521Human1name
597830456CV3743016single nucleotide variantNM_006015.6(ARID1A):c.1198C>G (p.Pro400Ala)not provided [RCV005062024]likely benign12672971126729711Humanname
597970306CV3750209single nucleotide variantNM_006015.6(ARID1A):c.2291C>T (p.Ser764Phe)not provided [RCV005084150]uncertain significance12676219126762191Humanname
597969339CV3753298single nucleotide variantNM_006015.6(ARID1A):c.1354C>G (p.Pro452Ala)not provided [RCV005083782]uncertain significance12673115526731155Humanname
597956280CV3754598single nucleotide variantNM_006015.6(ARID1A):c.1223C>T (p.Pro408Leu)not provided [RCV005080448]likely benign12672973626729736Humanname
597948048CV3759071single nucleotide variantNM_006015.6(ARID1A):c.1486G>C (p.Ala496Pro)not provided [RCV005078867]likely benign12673128726731287Humanname
597909719CV3770279single nucleotide variantNM_006015.6(ARID1A):c.1090C>G (p.Pro364Ala)not provided [RCV005113580]uncertain significance12669749326697493Humanname
597909727CV3770281single nucleotide variantNM_006015.6(ARID1A):c.1514A>G (p.Gln505Arg)not provided [RCV005113582]uncertain significance12673131526731315Humanname
597909738CV3770282single nucleotide variantNM_006015.6(ARID1A):c.1689G>C (p.Gln563His)not provided [RCV005113583]benign12673149026731490Humanname
597935018CV3793683single nucleotide variantNM_006015.6(ARID1A):c.2261A>T (p.Gln754Leu)not provided [RCV005132339]uncertain significance12676216126762161Humanname
597872669CV3806001single nucleotide variantNM_006015.6(ARID1A):c.2480G>A (p.Gly827Asp)not provided [RCV005148411]uncertain significance12676303326763033Humanname
597936519CV3807659single nucleotide variantNM_006015.6(ARID1A):c.2862G>A (p.Met954Ile)not provided [RCV005158038]uncertain significance12676635026766350Humanname
597864070CV3814126single nucleotide variantNM_006015.6(ARID1A):c.2345A>C (p.His782Pro)not provided [RCV005147195]uncertain significance12676224526762245Humanname
597861310CV3822494single nucleotide variantNM_006015.6(ARID1A):c.1180C>T (p.Pro394Ser)not provided [RCV005175024]uncertain significance12672969326729693Humanname
597976393CV3829641single nucleotide variantNM_006015.6(ARID1A):c.2296C>G (p.Gln766Glu)not provided [RCV005169908]uncertain significance12676219626762196Humanname
597959160CV3848619single nucleotide variantNM_006015.6(ARID1A):c.2198C>T (p.Ser733Leu)not provided [RCV005192320]uncertain significance12676142026761420Humanname
597845627CV3880472single nucleotide variantNM_006015.6(ARID1A):c.2995A>G (p.Ser999Gly)not provided [RCV005227360]uncertain significance12676779626767796Humanname
598225390CV3892355single nucleotide variantNM_006015.6(ARID1A):c.1246G>A (p.Gly416Arg)Intellectual disability, autosomal dominant 14 [RCV005254190]uncertain significance12672975926729759Human1name
598160710CV3897912single nucleotide variantNM_006015.6(ARID1A):c.1793C>T (p.Pro598Leu)Inborn genetic diseases [RCV005261252]uncertain significance12673159426731594Human1name
598162074CV3897971single nucleotide variantNM_006015.6(ARID1A):c.1355C>T (p.Pro452Leu)Inborn genetic diseases [RCV005261310]uncertain significance12673115626731156Human1name
598162102CV3897979single nucleotide variantNM_006015.6(ARID1A):c.2701A>T (p.Met901Leu)Inborn genetic diseases [RCV005261317]uncertain significance12676325426763254Human1name
8602175CV39249single nucleotide variantNM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter)Intellectual disability, autosomal dominant 14 [RCV000023228]pathogenic12676624626766246Human1name
616933955CV4011928single nucleotide variantNM_006015.6(ARID1A):c.1004A>G (p.Gln335Arg)not specified [RCV005408477]uncertain significance12669740726697407Humanname
616933458CV4013690deletionNM_006015.6(ARID1A):c.3092del (p.Thr1031fs)Intellectual disability, autosomal dominant 14 [RCV005411183]pathogenic12676789326767893Human1name
616939577CV4014072single nucleotide variantNM_006015.6(ARID1A):c.1189G>A (p.Gly397Arg)not provided [RCV005413564]uncertain significance12672970226729702Humanname
616940042CV4014232single nucleotide variantNM_006015.6(ARID1A):c.1076A>G (p.His359Arg)not provided [RCV005413725]uncertain significance12669747926697479Humanname
617153821CV4016909single nucleotide variantNM_006015.6(ARID1A):c.1834G>C (p.Ala612Pro)Intellectual disability, autosomal dominant 14 [RCV005416006]uncertain significance12673270626732706Human1name
617154092CV4022255single nucleotide variantNM_006015.6(ARID1A):c.2167C>A (p.Gln723Lys)not provided [RCV005429611]uncertain significance12676138926761389Humanname
617154139CV4022328single nucleotide variantNM_006015.6(ARID1A):c.1906C>T (p.Pro636Ser)not provided [RCV005429684]uncertain significance12673277826732778Humanname
617154334CV4022660single nucleotide variantNM_006015.6(ARID1A):c.2783C>G (p.Pro928Arg)not provided [RCV005430018]uncertain significance12676627126766271Humanname
25317159CV805073deletionNM_006015.6(ARID1A):c.5693del (p.Pro1898fs)Intellectual disability, autosomal dominant 14 [RCV001007870]pathogenic12677958726779587Human1name
8629463CV84610single nucleotide variantNM_006015.4(ARID1A):c.1867G>T (p.Gly623Ter)Malignant melanoma [RCV000064692]not provided12673273926732739Humanname
28880093CV858940single nucleotide variantNM_006015.6(ARID1A):c.2718C>G (p.Asn906Lys)ARID1A-related disorder [RCV004746236]|not provided [RCV001090917]likely benign|conflicting interpretations of pathogenicity|uncertain significance12676327126763271Human1name , alternate_id
38464734CV961500single nucleotide variantNM_006015.6(ARID1A):c.1602C>A (p.Tyr534Ter)Intellectual disability, autosomal dominant 14 [RCV001249721]pathogenic12673140326731403Human1name
40903450CV977173single nucleotide variantNM_006015.6(ARID1A):c.2186C>T (p.Pro729Leu)Intellectual disability, autosomal dominant 14 [RCV001270726]uncertain significance12676140826761408Human1name
42723759CV984659single nucleotide variantNM_006015.6(ARID1A):c.2852G>A (p.Gly951Asp)Intellectual disability, autosomal dominant 14 [RCV001291774]uncertain significance12676634026766340Human1name
126743333CV1015707single nucleotide variantNM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu)ARID1A-related disorder [RCV003898315]|Intellectual disability, autosomal dominant 14 [RCV001330177]uncertain significance12673151326731513Human1name , alternate_id
150405276CV1192845deletionNM_006015.6(ARID1A):c.261_278del (p.Ala88_Gly93del)ARID1A-related disorder [RCV004746431]|not provided [RCV001571556]likely benign|conflicting interpretations of pathogenicity12669665426696671Human1alternate_id
150435516CV1244430single nucleotide variantNM_006015.6(ARID1A):c.5719A>T (p.Ile1907Phe)ARID1A-related disorder [RCV003968433]|not provided [RCV001665421]likely benign|conflicting interpretations of pathogenicity12677961726779617Human1alternate_id
150435670CV1244483deletionNM_006015.6(ARID1A):c.250_267del (p.Gly84_Gly89del)ARID1A-related disorder [RCV003931264]|not provided [RCV001665474]benign|likely benign12669665026696667Human1alternate_id
150460648CV1253137single nucleotide variantNM_006015.6(ARID1A):c.5615C>T (p.Ala1872Val)ARID1A-related disorder [RCV003921322]|not provided [RCV001669466]benign|likely benign12677951326779513Human1alternate_id
150492710CV1281376single nucleotide variantNM_006015.6(ARID1A):c.3046G>A (p.Gly1016Ser)ARID1A-related disorder [RCV003931292]|not provided [RCV001716867]benign|likely benign12676784726767847Human1alternate_id
151353896CV1327448single nucleotide variantNM_006015.6(ARID1A):c.5745G>T (p.Leu1915Phe)ARID1A-related disorder [RCV003976220]|not specified [RCV001817392]uncertain significance12677964326779643Human1alternate_id
8686865CV137287single nucleotide variantNM_006015.6(ARID1A):c.3967C>T (p.Arg1323Cys)ARID1A-related disorder [RCV004745198]|not provided [RCV001575617]|not specified [RCV000120061]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided12677368026773680Human1alternate_id
8686868CV137290single nucleotide variantNM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly)ARID1A-related disorder [RCV003935136]|Intellectual disability, autosomal dominant 14 [RCV002259634]|not provided [RCV001636678]|not specified [RCV000120064]benign|likely benign|not provided12677923426779234Human1alternate_id
8686869CV137291single nucleotide variantNM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln)ARID1A-related disorder [RCV003925169]|Intellectual disability, autosomal dominant 14 [RCV002259635]|not provided [RCV000514601]|not specified [RCV000120065]benign|likely benign|not provided12677961526779615Human1alternate_id
151725332CV1452292single nucleotide variantNM_006015.6(ARID1A):c.5012G>A (p.Arg1671Gln)ARID1A-related disorder [RCV004729038]|not provided [RCV002040605]uncertain significance12677559526775595Human1alternate_id
152041791CV1553607single nucleotide variantNM_006015.6(ARID1A):c.1529A>C (p.Gln510Pro)ARID1A-related disorder [RCV003958621]|Inborn genetic diseases [RCV002993467]|not provided [RCV002088060]likely benign|uncertain significance12673133026731330Human2alternate_id
156101505CV1982013single nucleotide variantNM_006015.6(ARID1A):c.1483C>A (p.His495Asn)ARID1A-related disorder [RCV004747102]|not provided [RCV002622232]likely benign|uncertain significance12673128426731284Human1alternate_id
10408503CV206791microsatelliteNM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)ARID1A-related disorder [RCV003955138]|not provided [RCV000727463]|not specified [RCV000194517]likely benign|conflicting interpretations of pathogenicity|uncertain significance12669712926697130Humanalternate_id
10405436CV206794single nucleotide variantNM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro)ARID1A-related disorder [RCV003895241]|not provided [RCV000955690]|not specified [RCV000192470]benign|likely benign|uncertain significance12677967726779677Human1alternate_id
155903569CV2127122single nucleotide variantNM_006015.6(ARID1A):c.3242A>G (p.Asn1081Ser)ARID1A-related disorder [RCV003961321]|not provided [RCV002967572]benign|likely benign12677116226771162Human1alternate_id
156107922CV2161081single nucleotide variantNM_006015.6(ARID1A):c.6652A>T (p.Met2218Leu)ARID1A-related disorder [RCV003418712]|not provided [RCV003038828]likely benign|uncertain significance12678055026780550Human1alternate_id
11641902CV273718single nucleotide variantNM_006015.6(ARID1A):c.1715C>T (p.Thr572Met)ARID1A-related disorder [RCV004745325]|not provided [RCV000364065]conflicting interpretations of pathogenicity|uncertain significance12673151626731516Human1alternate_id
401908817CV2796959single nucleotide variantNM_006015.6(ARID1A):c.3337C>T (p.Pro1113Ser)ARID1A-related disorder [RCV003397698]uncertain significance12677125726771257Humantrait , alternate_id
401925890CV2798479single nucleotide variantNM_006015.6(ARID1A):c.5623C>T (p.Pro1875Ser)ARID1A-related disorder [RCV003405777]uncertain significance12677952126779521Humantrait , alternate_id
401913743CV2799097single nucleotide variantNM_006015.6(ARID1A):c.5758A>G (p.Ser1920Gly)ARID1A-related disorder [RCV003400243]likely pathogenic12677965626779656Humantrait , alternate_id
401914679CV2799313insertionNM_006015.6(ARID1A):c.3858_3859insT (p.Arg1287Ter)ARID1A-related disorder [RCV003400429]pathogenic|likely pathogenic12677348826773489Humantrait , alternate_id
401935079CV2799830single nucleotide variantNM_006015.6(ARID1A):c.6472C>T (p.Arg2158Ter)ARID1A-related disorder [RCV003412496]likely pathogenic12678037026780370Humantrait , alternate_id
401903392CV2799958single nucleotide variantNM_006015.6(ARID1A):c.5668G>C (p.Gly1890Arg)ARID1A-related disorder [RCV003394443]uncertain significance12677956626779566Humantrait , alternate_id
401933533CV2800367single nucleotide variantNM_006015.6(ARID1A):c.5606G>A (p.Arg1869Gln)ARID1A-related disorder [RCV003410379]|not provided [RCV003410378]uncertain significance12677950426779504Human1alternate_id
401902514CV2802080single nucleotide variantNM_006015.6(ARID1A):c.4729A>G (p.Ser1577Gly)ARID1A-related disorder [RCV003418906]uncertain significance12677495626774956Humantrait , alternate_id
401926145CV2803420single nucleotide variantNM_006015.6(ARID1A):c.5639A>G (p.Lys1880Arg)ARID1A-related disorder [RCV003405861]uncertain significance12677953726779537Humantrait , alternate_id
405184509CV3156027single nucleotide variantNM_006015.6(ARID1A):c.5822T>G (p.Phe1941Cys)ARID1A-related disorder [RCV003909194]|not provided [RCV003859101]uncertain significance12677972026779720Human1alternate_id
405288807CV3193816single nucleotide variantNM_006015.6(ARID1A):c.5803G>C (p.Glu1935Gln)ARID1A-related disorder [RCV003983318]uncertain significance12677970126779701Humantrait , alternate_id
405272740CV3201356single nucleotide variantNM_006015.6(ARID1A):c.4426A>G (p.Met1476Val)ARID1A-related disorder [RCV003901419]uncertain significance12677465326774653Humantrait , alternate_id
405279445CV3217456single nucleotide variantNM_006015.6(ARID1A):c.3769G>A (p.Gly1257Ser)ARID1A-related disorder [RCV003976865]uncertain significance12677339926773399Humantrait , alternate_id
408371224CV3503693single nucleotide variantNM_006015.6(ARID1A):c.3809A>G (p.Asn1270Ser)ARID1A-related disorder [RCV004724581]uncertain significance12677343926773439Humantrait , alternate_id
408377930CV3504954single nucleotide variantNM_006015.6(ARID1A):c.4721C>T (p.Pro1574Leu)ARID1A-related disorder [RCV004724556]|not provided [RCV004767761]uncertain significance12677494826774948Human1alternate_id
408376215CV3505670single nucleotide variantNM_006015.6(ARID1A):c.6419C>G (p.Pro2140Arg)ARID1A-related disorder [RCV004726634]uncertain significance12678031726780317Humantrait , alternate_id
408375585CV3506339deletionNM_006015.6(ARID1A):c.1014_1028del (p.Ala345_Ala349del)ARID1A-related disorder [RCV004726232]uncertain significance12669741726697431Humantrait , alternate_id
408373977CV3513912single nucleotide variantNM_006015.6(ARID1A):c.3527T>C (p.Leu1176Ser)ARID1A-related disorder [RCV004745902]uncertain significance12677262026772620Humantrait , alternate_id
408374077CV3514024microsatelliteNM_006015.6(ARID1A):c.483CGC[6] (p.Ala167_Val168insAlaAla)ARID1A-related disorder [RCV004745923]uncertain significance12669688526696886Humantrait , alternate_id
408374401CV3516205single nucleotide variantNM_006015.6(ARID1A):c.3884G>A (p.Gly1295Glu)ARID1A-related disorder [RCV004746746]uncertain significance12677359726773597Humantrait , alternate_id
13216258CV427762microsatelliteNM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup)ARID1A-related disorder [RCV003932819]|Astrocytoma [RCV000590829]|Inborn genetic diseases [RCV002524155]|not provided [RCV001662491]|not specified [RCV000503545]likely benign|uncertain significance12669644826696449Humanalternate_id
13213546CV427766microsatelliteNM_006015.6(ARID1A):c.249CGG[6] (p.Gly86_Gly87dup)ARID1A-related disorder [RCV003915363]|not provided [RCV002527199]|not specified [RCV000500144]benign|likely benign|uncertain significance12669664926696650Humanalternate_id
13213518CV427772microsatelliteNM_006015.6(ARID1A):c.483CGC[5] (p.Ala167dup)ARID1A-related disorder [RCV003925447]|Inborn genetic diseases [RCV005260147]|not provided [RCV001683525]|not specified [RCV000500108]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance12669688526696886Humanalternate_id
13214127CV427778deletionNM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del)ARID1A-related disorder [RCV003960150]|Inborn genetic diseases [RCV002527200]|Intellectual disability, autosomal dominant 14 [RCV001262311]|not provided [RCV000761646]|not specified [RCV000500879]benign|likely benign|conflicting interpretations of pathogenicity12669741826697432Human2alternate_id
13517822CV491464single nucleotide variantNM_006015.6(ARID1A):c.5246G>A (p.Arg1749Lys)ARID1A-related disorder [RCV004745498]|not provided [RCV000596833]conflicting interpretations of pathogenicity|uncertain significance12677914426779144Human1alternate_id
13533065CV511263single nucleotide variantNM_006015.6(ARID1A):c.3407C>T (p.Ala1136Val)ARID1A-related disorder [RCV004745506]|Inborn genetic diseases [RCV000624834]|not provided [RCV002060691]likely benign|uncertain significance12677250026772500Human2alternate_id
13831963CV582460microsatelliteNM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup)ARID1A-related disorder [RCV003908017]|Inborn genetic diseases [RCV002535036]|not provided [RCV000722648]benign|likely benign|uncertain significance12669644826696449Humanalternate_id
15172544CV696661microsatelliteNM_006015.6(ARID1A):c.48GCC[4] (p.Pro21del)ARID1A-related disorder [RCV003978204]|not provided [RCV000950049]pathogenic|benign|likely benign12669644926696451Humanname , alternate_id
15122539CV732353single nucleotide variantNM_006015.6(ARID1A):c.1597C>T (p.Pro533Ser)ARID1A-related disorder [RCV003895468]|not provided [RCV000896256]benign|likely benign12673139826731398Human1alternate_id
38596538CV963486single nucleotide variantNM_006015.6(ARID1A):c.5636G>A (p.Arg1879Gln)ARID1A-related disorder [RCV003953607]|Intellectual disability [RCV001251893]|not provided [RCV001702588]likely benign12677953426779534Human3alternate_id
150337904CV1166616deletionNM_006015.6(ARID1A):c.1708_1766del (p.Pro570fs)ARID1A-related BAFopathy [RCV001533057]pathogenic12673150326731561Humantrait
150337930CV1166618single nucleotide variantNM_006015.6(ARID1A):c.3146T>G (p.Leu1049Arg)ARID1A-related BAFopathy [RCV001533077]likely pathogenic12676794726767947Humantrait
597878539CV3744386indelNM_006015.6(ARID1A):c.2878+12_2878+13delinsGGnot provided [RCV005069600]uncertain significance12676637826766379Humanname
127261665CV1087302single nucleotide variantNM_006015.6(ARID1A):c.2194C>A (p.Gln732Lys)Intellectual disability, autosomal dominant 14 [RCV001420562]|not provided [RCV002291757]uncertain significance12676141626761416Human1name
150419138CV1179243single nucleotide variantNM_006015.6(ARID1A):c.2881A>C (p.Met961Leu)Inborn genetic diseases [RCV002568980]|not provided [RCV001550905]likely benign|uncertain significance12676645926766459Human1name
150426638CV1186175single nucleotide variantNM_006015.6(ARID1A):c.2657C>T (p.Pro886Leu)not provided [RCV001559830]uncertain significance12676321026763210Humanname
152031889CV1671023deletionNM_006015.6(ARID1A):c.98_107del (p.Glu33fs)Intellectual disability, autosomal dominant 14 [RCV002226560]pathogenic|conflicting interpretations of pathogenicity12669649626696505Human1name
155945230CV1935579single nucleotide variantNM_006015.6(ARID1A):c.1381G>A (p.Gly461Arg)not provided [RCV002511327]uncertain significance12673118226731182Humanname