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Pathways
Variants search result for Homo sapiens
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464 records found for search term Cd7
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155916386CV2239722single nucleotide variantNM_006137.7(CD7):c.14C>T (p.Pro5Leu)not specified [RCV004108262]uncertain significance178231748282317482Humanname
156032157CV2274992single nucleotide variantNM_006137.7(CD7):c.10C>G (p.Pro4Ala)not specified [RCV004135037]likely benign178231748682317486Humanname
598229087CV3950828single nucleotide variantNM_006137.7(CD7):c.10C>A (p.Pro4Thr)not specified [RCV005319165]uncertain significance178231748682317486Humanname
401781184CV2726449single nucleotide variantNM_006137.7(CD7):c.56G>T (p.Gly19Val)not specified [RCV004328646]uncertain significance178231744082317440Humanname
155945054CV2269468single nucleotide variantNM_006137.7(CD7):c.136A>G (p.Ile46Val)not specified [RCV004124583]uncertain significance178231692882316928Humanname
156278581CV2348241single nucleotide variantNM_006137.7(CD7):c.243C>A (p.Asp81Glu)not specified [RCV004191282]uncertain significance178231682182316821Humanname
401754044CV2685144single nucleotide variantNM_006137.7(CD7):c.260G>A (p.Arg87His)not specified [RCV004289710]uncertain significance178231680482316804Humanname
401887600CV2772039single nucleotide variantNM_006137.7(CD7):c.281A>G (p.Gln94Arg)not specified [RCV004344713]uncertain significance178231678382316783Humanname
597778710CV3648486single nucleotide variantNM_006137.7(CD7):c.166G>T (p.Gly56Trp)not specified [RCV004899091]uncertain significance178231689882316898Humanname
598207732CV3950826single nucleotide variantNM_006137.7(CD7):c.199C>G (p.Gln67Glu)not specified [RCV005315336]uncertain significance178231686582316865Humanname
598207743CV3950829single nucleotide variantNM_006137.7(CD7):c.254G>C (p.Arg85Pro)not specified [RCV005315338]uncertain significance178231681082316810Humanname
156262306CV2201084single nucleotide variantNM_006137.7(CD7):c.635G>A (p.Arg212Gln)not specified [RCV004075207]uncertain significance178231540982315409Humanname
155936882CV2376153single nucleotide variantNM_006137.7(CD7):c.370G>A (p.Gly124Ser)not specified [RCV004220383]uncertain significance178231669482316694Humanname
329352886CV2470604single nucleotide variantNM_006137.7(CD7):c.644A>G (p.Asn215Ser)not specified [RCV004273601]likely benign178231540082315400Humanname
401771298CV2675538single nucleotide variantNM_006137.7(CD7):c.476C>T (p.Ser159Phe)not specified [RCV004295154]uncertain significance178231633182316331Humanname
401753679CV2685023single nucleotide variantNM_006137.7(CD7):c.308G>A (p.Arg103His)not specified [RCV004289606]likely benign178231675682316756Humanname
401770665CV2707337single nucleotide variantNM_006137.7(CD7):c.329G>A (p.Gly110Asp)not specified [RCV004312739]uncertain significance178231673582316735Humanname
401878713CV2754793single nucleotide variantNM_006137.7(CD7):c.577G>A (p.Gly193Ser)not specified [RCV004341274]uncertain significance178231623082316230Humanname
405772458CV3299854single nucleotide variantNM_006137.7(CD7):c.464C>T (p.Pro155Leu)not specified [RCV004435526]uncertain significance178231634382316343Humanname
405772463CV3299855single nucleotide variantNM_006137.7(CD7):c.618G>C (p.Lys206Asn)not specified [RCV004435527]uncertain significance178231542682315426Humanname
405772469CV3299856single nucleotide variantNM_006137.7(CD7):c.685C>A (p.Arg229Ser)not specified [RCV004435528]uncertain significance178231535982315359Humanname
407498850CV3425007single nucleotide variantNM_006137.7(CD7):c.460G>A (p.Ala154Thr)not specified [RCV004606589]uncertain significance178231634782316347Humanname
597778699CV3648483single nucleotide variantNM_006137.7(CD7):c.518C>T (p.Pro173Leu)not specified [RCV004899088]likely benign178231628982316289Humanname
597778702CV3648484single nucleotide variantNM_006137.7(CD7):c.683G>A (p.Ser228Asn)not specified [RCV004899089]uncertain significance178231536182315361Humanname
597778706CV3648485single nucleotide variantNM_006137.7(CD7):c.649G>A (p.Ala217Thr)not specified [RCV004899090]uncertain significance178231539582315395Humanname
597738853CV3648487single nucleotide variantNM_006137.7(CD7):c.466C>G (p.Pro156Ala)not specified [RCV004890205]uncertain significance178231634182316341Humanname
598207715CV3950822single nucleotide variantNM_006137.7(CD7):c.428C>T (p.Ser143Leu)not specified [RCV005315333]uncertain significance178231637982316379Humanname
598207721CV3950823single nucleotide variantNM_006137.7(CD7):c.590C>T (p.Ala197Val)not specified [RCV005315334]likely benign178231621782316217Humanname
598207727CV3950824single nucleotide variantNM_006137.7(CD7):c.551C>T (p.Ala184Val)not specified [RCV005315335]uncertain significance178231625682316256Humanname
598229080CV3950825single nucleotide variantNM_006137.7(CD7):c.542C>T (p.Ala181Val)not specified [RCV005319164]likely benign178231626582316265Humanname
598207740CV3950827single nucleotide variantNM_006137.7(CD7):c.316C>G (p.Leu106Val)not specified [RCV005315337]uncertain significance178231674882316748Humanname
405258298CV3203227single nucleotide variantNM_000626.4(CD79B):c.-8C>TCD79B-related disorder [RCV003941826]likely benign176393226963932269Humanname , trait , alternate_id
405282617CV3220627single nucleotide variantNM_001783.4(CD79A):c.*4C>TCD79A-related disorder [RCV003978943]likely benign194188098441880984Humanname , trait , alternate_id
150467101CV1277514single nucleotide variantNM_000626.4(CD79B):c.*89T>Cnot provided [RCV001710809]|not specified [RCV003487740]benign176392913763929137Humanname
401907204CV2795813single nucleotide variantNM_001252.5(CD70):c.-133G>Tnot specified [RCV003397165]benign1965911356591135Humanname
150439873CV1221370single nucleotide variantNM_000626.4(CD79B):c.*154C>Tnot provided [RCV001610065]benign176392907263929072Humanname
150473666CV1262940single nucleotide variantNM_000626.4(CD79B):c.*153C>Gnot provided [RCV001684756]benign176392907363929073Humanname
151867281CV1381724single nucleotide variantNM_000626.4(CD79B):c.67+3A>GAgammaglobulinemia 6, autosomal recessive [RCV001939314]uncertain significance176393219263932192Human1name , alternate_id
152157505CV1615941single nucleotide variantNM_000626.4(CD79B):c.67+9C>AAgammaglobulinemia 6, autosomal recessive [RCV002159041]likely benign176393218663932186Human1name , alternate_id
152144429CV1616255single nucleotide variantNM_000626.4(CD79B):c.68-5A>GAgammaglobulinemia 6, autosomal recessive [RCV002120817]|not provided [RCV004706385]likely benign176393139063931390Human1name , alternate_id
156315591CV1910281single nucleotide variantNM_001783.4(CD79A):c.79+6T>CAgammaglobulinemia 3, autosomal recessive [RCV002599923]uncertain significance194187738941877389Human1name , alternate_id
156021959CV2148233single nucleotide variantNM_001783.4(CD79A):c.79+8G>AAgammaglobulinemia 3, autosomal recessive [RCV003018274]likely benign194187739141877391Human1name , alternate_id
402504723CV3020541single nucleotide variantNM_000626.4(CD79B):c.68-7C>TAgammaglobulinemia 6, autosomal recessive [RCV003628684]likely benign176393139263931392Human1name , alternate_id
405294270CV3214726single nucleotide variantNM_001252.5(CD70):c.196+7C>GCD70-related disorder [RCV003934156]likely benign1965900966590096Humanname , trait , alternate_id
597916614CV3811003single nucleotide variantNM_001783.4(CD79A):c.80-8C>GAgammaglobulinemia 3, autosomal recessive [RCV005155038]likely benign194187898241878982Human1name , alternate_id
597941127CV3846736single nucleotide variantNM_000626.4(CD79B):c.67+9C>TAgammaglobulinemia 6, autosomal recessive [RCV005187844]likely benign176393218663932186Human1name , alternate_id
13476446CV467196single nucleotide variantNM_000626.4(CD79B):c.68-9A>GAgammaglobulinemia 6, autosomal recessive [RCV000526743]likely benign176393139463931394Human1name , alternate_id
126743294CV998622single nucleotide variantNM_001783.4(CD79A):c.80-3C>TAgammaglobulinemia 3, autosomal recessive [RCV001296170]uncertain significance194187898741878987Human1name , alternate_id
127325546CV1126536single nucleotide variantNM_000626.4(CD79B):c.431-5C>TAgammaglobulinemia 6, autosomal recessive [RCV001468539]likely benign176392989363929893Human1name , alternate_id
127335663CV1126537single nucleotide variantNM_000626.4(CD79B):c.430+8C>AAgammaglobulinemia 6, autosomal recessive [RCV001474422]likely benign176393006663930066Human1name , alternate_id
127290527CV1126538single nucleotide variantNM_000626.4(CD79B):c.119-7C>TAgammaglobulinemia 6, autosomal recessive [RCV001458463]likely benign176393039263930392Human1name , alternate_id
127299165CV1158079single nucleotide variantNM_000626.4(CD79B):c.550-8G>AAgammaglobulinemia 6, autosomal recessive [RCV001513567]benign176392948363929483Human1name , alternate_id
151817475CV1441172single nucleotide variantNM_001783.4(CD79A):c.79+14G>AAgammaglobulinemia 3, autosomal recessive [RCV001933816]likely benign|uncertain significance194187739741877397Human1name , alternate_id
151757508CV1514220single nucleotide variantNM_000626.4(CD79B):c.591+4A>TAgammaglobulinemia 6, autosomal recessive [RCV001948770]uncertain significance176392943063929430Human1name , alternate_id
152175806CV1527224single nucleotide variantNM_000626.4(CD79B):c.67+17G>CAgammaglobulinemia 6, autosomal recessive [RCV002163943]benign176393217863932178Human1name , alternate_id
152176184CV1628396single nucleotide variantNM_000626.4(CD79B):c.550-6C>TAgammaglobulinemia 6, autosomal recessive [RCV002164326]likely benign176392948163929481Human1name , alternate_id
152059365CV1652174single nucleotide variantNM_000626.4(CD79B):c.67+18A>GAgammaglobulinemia 6, autosomal recessive [RCV002190339]likely benign176393217763932177Human1name , alternate_id
156013833CV1912602single nucleotide variantNM_000626.4(CD79B):c.67+16C>TAgammaglobulinemia 6, autosomal recessive [RCV002619041]likely benign176393217963932179Human1name , alternate_id
156446932CV1948617single nucleotide variantNM_001783.4(CD79A):c.380-8C>TAgammaglobulinemia 3, autosomal recessive [RCV003118453]likely benign194187952741879527Human1name , alternate_id
155902554CV2007101single nucleotide variantNM_001783.4(CD79A):c.80-12G>AAgammaglobulinemia 3, autosomal recessive [RCV002681193]likely benign194187897841878978Human1name , alternate_id
156303004CV2013561single nucleotide variantNM_001783.4(CD79A):c.379+3G>AAgammaglobulinemia 3, autosomal recessive [RCV002716146]uncertain significance194187929241879292Human1name , alternate_id
156243704CV2086099single nucleotide variantNM_001783.4(CD79A):c.568-6T>CAgammaglobulinemia 3, autosomal recessive [RCV002876689]likely benign194188086141880861Human1name , alternate_id
156123696CV2124783single nucleotide variantNM_000626.4(CD79B):c.67+14G>AAgammaglobulinemia 6, autosomal recessive [RCV002953598]likely benign176393218163932181Human1name , alternate_id
156167332CV2169700single nucleotide variantNM_001783.4(CD79A):c.499-1G>AAgammaglobulinemia 3, autosomal recessive [RCV003023406]likely pathogenic194188066941880669Human1name , alternate_id
156170473CV2190296single nucleotide variantNM_001783.4(CD79A):c.498+6C>AAgammaglobulinemia 3, autosomal recessive [RCV003041016]uncertain significance194187965941879659Human1name , alternate_id
404987995CV2849520single nucleotide variantNM_001252.5(CD70):c.162+63T>Cnot specified [RCV003490377]benign1965907786590778Humanname
405041665CV2861642single nucleotide variantNM_000626.4(CD79B):c.549+9G>CAgammaglobulinemia 6, autosomal recessive [RCV003517908]likely benign176392976163929761Human1name , alternate_id
402511435CV2949355single nucleotide variantNM_000626.4(CD79B):c.549+9G>AAgammaglobulinemia 6, autosomal recessive [RCV003629469]likely benign176392976163929761Human1name , alternate_id
405065093CV3036819single nucleotide variantNM_001783.4(CD79A):c.499-8C>TAgammaglobulinemia 3, autosomal recessive [RCV003632382]likely benign194188066241880662Human1name , alternate_id
405186813CV3149103single nucleotide variantNM_000626.4(CD79B):c.67+19G>AAgammaglobulinemia 6, autosomal recessive [RCV003843027]likely benign176393217663932176Human1name , alternate_id
8566354CV32745single nucleotide variantNM_001783.4(CD79A):c.380-2A>GAgammaglobulinemia 3, autosomal recessive [RCV000019280]pathogenic194187953341879533Human1name , alternate_id
8566355CV32746single nucleotide variantNM_001783.4(CD79A):c.379+1G>AAgammaglobulinemia 3, autosomal recessive [RCV000019281]pathogenic|likely pathogenic194187929041879290Human1name , alternate_id
597914872CV3740661single nucleotide variantNM_001783.4(CD79A):c.380-7C>TAgammaglobulinemia 3, autosomal recessive [RCV005073998]likely benign194187952841879528Human1name , alternate_id
597971479CV3750740single nucleotide variantNM_000626.4(CD79B):c.549+7A>GAgammaglobulinemia 6, autosomal recessive [RCV005084484]likely benign176392976363929763Human1name , alternate_id
597926736CV3778534single nucleotide variantNM_001783.4(CD79A):c.80-13T>GAgammaglobulinemia 3, autosomal recessive [RCV005131057]likely benign194187897741878977Human1name , alternate_id
597893792CV3809991single nucleotide variantNM_001783.4(CD79A):c.568-9C>GAgammaglobulinemia 3, autosomal recessive [RCV005151712]likely benign194188085841880858Human1name , alternate_id
597915103CV3834016single nucleotide variantNM_000626.4(CD79B):c.68-10C>AAgammaglobulinemia 6, autosomal recessive [RCV005183375]likely benign176393139563931395Human1name , alternate_id
597936147CV3845380single nucleotide variantNM_001783.4(CD79A):c.79+15G>AAgammaglobulinemia 3, autosomal recessive [RCV005186693]likely benign194187739841877398Human1name , alternate_id
597905255CV3846501single nucleotide variantNM_000626.4(CD79B):c.118+3C>TAgammaglobulinemia 6, autosomal recessive [RCV005181928]uncertain significance176393133263931332Human1name , alternate_id
597948013CV3852405single nucleotide variantNM_000626.4(CD79B):c.431-8C>GAgammaglobulinemia 6, autosomal recessive [RCV005189483]likely benign176392989663929896Human1name , alternate_id
13621266CV531447single nucleotide variantNM_000626.4(CD79B):c.592-6C>GAgammaglobulinemia 6, autosomal recessive [RCV000648112]likely benign|uncertain significance176392933063929330Human1name , alternate_id
15192969CV731174single nucleotide variantNM_000626.4(CD79B):c.67+10C>AAgammaglobulinemia 6, autosomal recessive [RCV000888815]|CD79B-related disorder [RCV003948403]|not provided [RCV004704271]likely benign176393218563932185Human1name , trait , alternate_id
15120871CV760470single nucleotide variantNM_000626.4(CD79B):c.431-4G>AAgammaglobulinemia 6, autosomal recessive [RCV000918388]|CD79B-related disorder [RCV003933078]likely benign176392989263929892Human1name , trait , alternate_id
15183013CV779824single nucleotide variantNM_000626.4(CD79B):c.431-3C>TAgammaglobulinemia 6, autosomal recessive [RCV000974775]likely benign176392989163929891Human1name , alternate_id
127253990CV1105156single nucleotide variantNM_000626.4(CD79B):c.430+10A>CAgammaglobulinemia 6, autosomal recessive [RCV001426211]likely benign176393006463930064Human1name , alternate_id
127300263CV1126535single nucleotide variantNM_000626.4(CD79B):c.549+14G>AAgammaglobulinemia 6, autosomal recessive [RCV001461060]likely benign176392975663929756Human1name , alternate_id
127290826CV1158080single nucleotide variantNM_000626.4(CD79B):c.118+12C>TAgammaglobulinemia 6, autosomal recessive [RCV001510027]benign176393132363931323Human1name , alternate_id
150445874CV1215567single nucleotide variantNM_000626.4(CD79B):c.68-140G>Anot provided [RCV001611160]benign176393152563931525Humanname
150440842CV1220224single nucleotide variantNM_000626.4(CD79B):c.68-220A>Cnot provided [RCV001610207]benign176393160563931605Human3name
150440842CV1220224single nucleotide variantNM_000626.4(CD79B):c.68-220A>Cnot provided [RCV001610207]benign176393160563931606Human3name
150484471CV1222502single nucleotide variantNM_001783.4(CD79A):c.80-303G>Anot provided [RCV001617505]benign194187868741878687Humanname
151766671CV1366180single nucleotide variantNM_000626.4(CD79B):c.591+13G>AAgammaglobulinemia 6, autosomal recessive [RCV001949750]likely benign176392942163929421Human1name , alternate_id
151814940CV1507470single nucleotide variantNM_001783.4(CD79A):c.499-17C>TAgammaglobulinemia 3, autosomal recessive [RCV001954188]likely benign194188065341880653Human1name , alternate_id
152061298CV1541057single nucleotide variantNM_000626.4(CD79B):c.549+11G>AAgammaglobulinemia 6, autosomal recessive [RCV002190558]likely benign176392975963929759Human1name , alternate_id
152034194CV1542865single nucleotide variantNM_000626.4(CD79B):c.118+13G>AAgammaglobulinemia 6, autosomal recessive [RCV002106704]likely benign176393132263931322Human1name , alternate_id
152171337CV1544102single nucleotide variantNM_001783.4(CD79A):c.498+10C>AAgammaglobulinemia 3, autosomal recessive [RCV002162076]likely benign194187966341879663Human1name , alternate_id
152072187CV1551597single nucleotide variantNM_000626.4(CD79B):c.549+16G>AAgammaglobulinemia 6, autosomal recessive [RCV002075254]likely benign176392975463929754Human1name , alternate_id
152083273CV1554688single nucleotide variantNM_001783.4(CD79A):c.567+12G>AAgammaglobulinemia 3, autosomal recessive [RCV002211698]likely benign194188075041880750Human1name , alternate_id
152132854CV1585152single nucleotide variantNM_000626.4(CD79B):c.118+19C>TAgammaglobulinemia 6, autosomal recessive [RCV002083104]likely benign176393131663931316Human1name , alternate_id
152164727CV1588683single nucleotide variantNM_000626.4(CD79B):c.549+11G>TAgammaglobulinemia 6, autosomal recessive [RCV002181593]likely benign176392975963929759Human1name , alternate_id
152107705CV1624090single nucleotide variantNM_001783.4(CD79A):c.498+12C>TAgammaglobulinemia 3, autosomal recessive [RCV002134074]likely benign194187966541879665Human1name , alternate_id
152071323CV1628621single nucleotide variantNM_000626.4(CD79B):c.550-17T>CAgammaglobulinemia 6, autosomal recessive [RCV002169328]benign176392949263929492Human1name , alternate_id
152128917CV1637386single nucleotide variantNM_000626.4(CD79B):c.431-19C>TAgammaglobulinemia 6, autosomal recessive [RCV002217795]likely benign176392990763929907Human1name , alternate_id
152135099CV1638500single nucleotide variantNM_001783.4(CD79A):c.498+13G>AAgammaglobulinemia 3, autosomal recessive [RCV002083397]likely benign194187966641879666Human1name , alternate_id
152032736CV1643169single nucleotide variantNM_001783.4(CD79A):c.567+19T>GAgammaglobulinemia 3, autosomal recessive [RCV002205036]likely benign194188075741880757Human1name , alternate_id
152124612CV1646034deletionNM_000626.4(CD79B):c.549+11delAgammaglobulinemia 6, autosomal recessive [RCV002217230]benign176392975963929759Human1name , alternate_id
152040669CV1649239single nucleotide variantNM_001783.4(CD79A):c.499-15C>TAgammaglobulinemia 3, autosomal recessive [RCV002206296]likely benign194188065541880655Human1name , alternate_id
155945719CV1875475single nucleotide variantNM_001783.4(CD79A):c.499-18C>AAgammaglobulinemia 3, autosomal recessive [RCV003073833]likely benign194188065241880652Human1name , alternate_id
156276573CV1880665single nucleotide variantNM_000626.4(CD79B):c.549+20A>GAgammaglobulinemia 6, autosomal recessive [RCV003060913]likely benign176392975063929750Human1name , alternate_id
156118272CV1927200single nucleotide variantNM_000626.4(CD79B):c.431-15C>AAgammaglobulinemia 6, autosomal recessive [RCV002640207]likely benign176392990363929903Human1name , alternate_id
156127817CV2027551single nucleotide variantNM_000626.4(CD79B):c.431-20C>TAgammaglobulinemia 6, autosomal recessive [RCV002740450]likely benign176392990863929908Human1name , alternate_id
156337975CV2096078single nucleotide variantNM_000626.4(CD79B):c.591+16G>AAgammaglobulinemia 6, autosomal recessive [RCV002900316]likely benign176392941863929418Human1name , alternate_id
155928116CV2145270single nucleotide variantNM_000626.4(CD79B):c.549+17G>TAgammaglobulinemia 6, autosomal recessive [RCV003013505]likely benign176392975363929753Human1name , alternate_id
155981683CV2163128single nucleotide variantNM_000626.4(CD79B):c.431-18C>GAgammaglobulinemia 6, autosomal recessive [RCV003033910]likely benign176392990663929906Human1name , alternate_id
156328440CV2180740single nucleotide variantNM_000626.4(CD79B):c.118+15C>TAgammaglobulinemia 6, autosomal recessive [RCV003047068]likely benign176393132063931320Human1name , alternate_id
405042151CV2870458duplicationNM_001783.4(CD79A):c.379+23dupAgammaglobulinemia 3, autosomal recessive [RCV003518097]benign194187930841879309Human1name , alternate_id
405044577CV2880186single nucleotide variantNM_000626.4(CD79B):c.431-13C>TAgammaglobulinemia 6, autosomal recessive [RCV003518317]likely benign176392990163929901Human1name , alternate_id
405029486CV2895785single nucleotide variantNM_001783.4(CD79A):c.568-16C>TAgammaglobulinemia 3, autosomal recessive [RCV003516657]likely benign194188085141880851Human1name , alternate_id
405051710CV2942934single nucleotide variantNM_001783.4(CD79A):c.499-18C>TAgammaglobulinemia 3, autosomal recessive [RCV003631339]likely benign194188065241880652Human1name , alternate_id
402509983CV2943462single nucleotide variantNM_000626.4(CD79B):c.431-20C>AAgammaglobulinemia 6, autosomal recessive [RCV003629316]likely benign176392990863929908Human1name , alternate_id
402522269CV2965273single nucleotide variantNM_000626.4(CD79B):c.550-19C>AAgammaglobulinemia 6, autosomal recessive [RCV003630302]likely benign176392949463929494Human1name , alternate_id
405061746CV3016698single nucleotide variantNM_001783.4(CD79A):c.499-14A>CAgammaglobulinemia 3, autosomal recessive [RCV003632119]benign194188065641880656Human1name , alternate_id
405061711CV3016779single nucleotide variantNM_001783.4(CD79A):c.499-10A>CAgammaglobulinemia 3, autosomal recessive [RCV003632122]|CD79A-related disorder [RCV003966575]benign|likely benign194188066041880660Human1name , trait , alternate_id
405008594CV3118318single nucleotide variantNM_000626.4(CD79B):c.549+13C>TAgammaglobulinemia 6, autosomal recessive [RCV003828748]likely benign176392975763929757Human1name , alternate_id
402519669CV3126794single nucleotide variantNM_000626.4(CD79B):c.431-18C>TAgammaglobulinemia 6, autosomal recessive [RCV003824712]likely benign176392990663929906Human1name , alternate_id
404978265CV3127310single nucleotide variantNM_001783.4(CD79A):c.567+15G>CAgammaglobulinemia 3, autosomal recessive [RCV003825534]likely benign194188075341880753Human1name , alternate_id
404992068CV3132275single nucleotide variantNM_001783.4(CD79A):c.379+19G>TAgammaglobulinemia 3, autosomal recessive [RCV003827213]likely benign194187930841879308Human1name , alternate_id
402470552CV3171094single nucleotide variantNM_001783.4(CD79A):c.380-14C>AAgammaglobulinemia 3, autosomal recessive [RCV003874057]likely benign194187952141879521Human1name , alternate_id
597951735CV3798409deletionNM_000626.4(CD79B):c.430+12delAgammaglobulinemia 6, autosomal recessive [RCV005136190]likely benign176393006263930062Human1name , alternate_id
597973663CV3801484single nucleotide variantNM_001783.4(CD79A):c.380-13T>CAgammaglobulinemia 3, autosomal recessive [RCV005143473]likely benign194187952241879522Human1name , alternate_id
597871760CV3835750single nucleotide variantNM_000626.4(CD79B):c.431-15C>TAgammaglobulinemia 6, autosomal recessive [RCV005176741]likely benign176392990363929903Human1name , alternate_id
597911041CV3854255single nucleotide variantNM_000626.4(CD79B):c.550-15C>AAgammaglobulinemia 6, autosomal recessive [RCV005203525]likely benign176392949063929490Human1name , alternate_id
150490881CV1267686single nucleotide variantNM_001783.4(CD79A):c.498+195G>Tnot provided [RCV001687710]benign194187984841879848Human1name
150490881CV1267686single nucleotide variantNM_001783.4(CD79A):c.498+195G>Tnot provided [RCV001687710]benign194187984841879849Human1name
150459934CV1268415single nucleotide variantNM_000626.4(CD79B):c.549+133A>Gnot provided [RCV001693412]benign176392963763929637Humanname
150473698CV1281565single nucleotide variantNM_000626.4(CD79B):c.118+258G>Anot provided [RCV001713572]benign176393107763931077Human1name
150473698CV1281565single nucleotide variantNM_000626.4(CD79B):c.118+258G>Anot provided [RCV001713572]benign176393107763931078Human1name
401918033CV2825425single nucleotide variantNM_001025159.3(CD74):c.881-3C>Tnot provided [RCV003429904]likely benign5150402253150402253Humanname
150490563CV1267634microsatelliteNM_001783.4(CD79A):c.499-218GGAA[14]not provided [RCV001687658]benign194188045141880452Humanname
150442524CV1287738duplicationNM_001783.4(CD79A):c.499-212_499-210dupnot provided [RCV001725459]benign194188045641880457Humanname
156164246CV1929895indelNM_000626.4(CD79B):c.431-8_431-7delinsTGAgammaglobulinemia 6, autosomal recessive [RCV002624492]uncertain significance176392989563929896Humanname , alternate_id
156395746CV1980408indelNM_001783.4(CD79A):c.567+20_567+21delinsATAgammaglobulinemia 3, autosomal recessive [RCV002605115]likely benign194188075841880759Humanname , alternate_id
151356373CV1329137single nucleotide variantNM_001252.5(CD70):c.48G>A (p.Gly16=)CD70-related disorder [RCV003941165]|not provided [RCV003416481]|not specified [RCV001822726]likely benign1965909556590955Human1name , trait , alternate_id
401944536CV2840257single nucleotide variantNM_001252.5(CD70):c.423C>T (p.Ser141=)CD70-related disorder [RCV003939051]|not provided [RCV003457278]benign|likely benign1965861796586179Human1name , trait , alternate_id
405276146CV3208185single nucleotide variantNM_001330332.2(CD70):c.608A>G (p.Asn203Ser)CD70-related disorder [RCV003941626]likely benign1965833196583319Humanname , trait , alternate_id
405276150CV3208284single nucleotide variantNM_001330332.2(CD70):c.453T>G (p.Leu151=)CD70-related disorder [RCV003941713]likely benign1965834746583474Humanname , trait , alternate_id
405271738CV3209450single nucleotide variantNM_001252.5(CD70):c.477G>A (p.Thr159=)CD70-related disorder [RCV003949770]likely benign1965861256586125Humanname , trait , alternate_id
151854350CV1455706single nucleotide variantNM_001783.4(CD79A):c.624C>T (p.Gly208=)Agammaglobulinemia 3, autosomal recessive [RCV002016991]|CD79A-related disorder [RCV003948871]likely benign|uncertain significance194188092341880923Human1name , trait , alternate_id
156375230CV1899363single nucleotide variantNM_000626.4(CD79B):c.523G>A (p.Val175Met)Agammaglobulinemia 6, autosomal recessive [RCV003092805]|CD79B-related disorder [RCV003420337]uncertain significance176392979663929796Human1name , trait , alternate_id
401937250CV2808726single nucleotide variantNM_001783.4(CD79A):c.81C>G (p.Gly27=)CD79A-related disorder [RCV003919151]|not provided [RCV003415258]likely benign194187899141878991Human1name , trait , alternate_id
401910547CV2808727single nucleotide variantNM_001783.4(CD79A):c.87G>C (p.Gly29=)CD79A-related disorder [RCV003908916]|not provided [RCV003425191]likely benign194187899741878997Human1name , trait , alternate_id
15178131CV727343single nucleotide variantNM_000626.4(CD79B):c.48G>A (p.Ala16=)Agammaglobulinemia 6, autosomal recessive [RCV000884988]|CD79B-related disorder [RCV003940515]likely benign176393221463932214Human1name , trait , alternate_id
152030620CV1632237single nucleotide variantNM_001783.4(CD79A):c.24C>T (p.Leu8=)Agammaglobulinemia 3, autosomal recessive [RCV002124372]likely benign194187732841877328Human1name , alternate_id
156408527CV1870115single nucleotide variantNM_001783.4(CD79A):c.12T>G (p.Gly4=)Agammaglobulinemia 3, autosomal recessive [RCV003071304]likely benign194187731641877316Human1name , alternate_id
156176906CV2258135single nucleotide variantNM_001782.3(CD72):c.5C>G (p.Ala2Gly)not specified [RCV004121523]uncertain significance93561829935618299Humanname
402516559CV3073473single nucleotide variantNM_000626.4(CD79B):c.24T>C (p.Pro8=)Agammaglobulinemia 6, autosomal recessive [RCV003629893]likely benign176393223863932238Human1name , alternate_id
13506508CV468842single nucleotide variantNM_001783.4(CD79A):c.21C>T (p.Val7=)Agammaglobulinemia 3, autosomal recessive [RCV000576174]likely benign194187732541877325Human1name , alternate_id
15113595CV756023single nucleotide variantNM_000626.4(CD79B):c.15G>A (p.Ala5=)Agammaglobulinemia 6, autosomal recessive [RCV001428278]likely benign176393224763932247Human1name , alternate_id
127267617CV1105159single nucleotide variantNM_000626.4(CD79B):c.48G>C (p.Ala16=)Agammaglobulinemia 6, autosomal recessive [RCV001429755]likely benign176393221463932214Human1name , alternate_id
127277101CV1106551single nucleotide variantNM_001783.4(CD79A):c.30T>C (p.Ala10=)Agammaglobulinemia 3, autosomal recessive [RCV001444194]likely benign194187733441877334Human1name , alternate_id
151849208CV1439981single nucleotide variantNM_001783.4(CD79A):c.8G>C (p.Gly3Ala)Agammaglobulinemia 3, autosomal recessive [RCV002016343]uncertain significance194187731241877312Human1name , alternate_id
152093523CV1570603single nucleotide variantNM_000626.4(CD79B):c.75A>C (p.Pro25=)Agammaglobulinemia 6, autosomal recessive [RCV002213052]likely benign176393137863931378Human1name , alternate_id
152032078CV1624680single nucleotide variantNM_001783.4(CD79A):c.54C>A (p.Leu18=)Agammaglobulinemia 3, autosomal recessive [RCV002186826]likely benign194187735841877358Human1name , alternate_id
156205001CV1905843single nucleotide variantNM_000626.4(CD79B):c.93G>A (p.Ser31=)Agammaglobulinemia 6, autosomal recessive [RCV003084365]likely benign176393136063931360Human1name , alternate_id
156384903CV2001733single nucleotide variantNM_001783.4(CD79A):c.51C>A (p.Leu17=)Agammaglobulinemia 3, autosomal recessive [RCV002653921]likely benign194187735541877355Human1name , alternate_id
405772485CV3299858single nucleotide variantNM_001252.5(CD70):c.26C>T (p.Ser9Leu)Inborn genetic diseases [RCV004435530]uncertain significance1965909776590977Human1name
597898345CV3782549single nucleotide variantNM_000626.4(CD79B):c.48G>T (p.Ala16=)Agammaglobulinemia 6, autosomal recessive [RCV005126774]likely benign176393221463932214Human1name , alternate_id
598124767CV3885383single nucleotide variantNM_001252.5(CD70):c.156A>G (p.Ser52=)not specified [RCV005239960]likely benign1965908476590847Humanname
13535784CV506093single nucleotide variantNM_000626.4(CD79B):c.90A>G (p.Arg30=)not specified [RCV000608039]likely benign176393136363931363Humanname
15179710CV716471single nucleotide variantNM_001783.4(CD79A):c.61C>T (p.Leu21=)Agammaglobulinemia 3, autosomal recessive [RCV001480000]likely benign194187736541877365Human1name , alternate_id
127233833CV1083364single nucleotide variantNM_000626.4(CD79B):c.102G>A (p.Arg34=)Agammaglobulinemia 6, autosomal recessive [RCV001396287]likely benign176393135163931351Human1name , alternate_id
127235530CV1084774single nucleotide variantNM_001783.4(CD79A):c.183C>T (p.Asn61=)Agammaglobulinemia 3, autosomal recessive [RCV001414484]|not provided [RCV001815548]likely benign194187909341879093Human1name , alternate_id
127278948CV1084775single nucleotide variantNM_001783.4(CD79A):c.225G>A (p.Thr75=)Agammaglobulinemia 3, autosomal recessive [RCV001408818]likely benign194187913541879135Human1name , alternate_id
127248412CV1084776single nucleotide variantNM_001783.4(CD79A):c.270G>A (p.Thr90=)Agammaglobulinemia 3, autosomal recessive [RCV001399374]|not specified [RCV005308441]likely benign194187918041879180Human1name , alternate_id
127255214CV1105158single nucleotide variantNM_000626.4(CD79B):c.213C>G (p.Ser71=)Agammaglobulinemia 6, autosomal recessive [RCV001437423]likely benign176393029163930291Human1name , alternate_id
127318738CV1127921single nucleotide variantNM_001783.4(CD79A):c.165G>A (p.Pro55=)Agammaglobulinemia 3, autosomal recessive [RCV001466341]likely benign194187907541879075Human1name , alternate_id
127288173CV1147452single nucleotide variantNM_000626.4(CD79B):c.213C>T (p.Ser71=)Agammaglobulinemia 6, autosomal recessive [RCV001495123]|not provided [RCV003456499]likely benign176393029163930291Human1name , alternate_id
127315043CV1148891single nucleotide variantNM_001783.4(CD79A):c.210C>A (p.Leu70=)Agammaglobulinemia 3, autosomal recessive [RCV001502616]likely benign194187912041879120Human1name , alternate_id
152171073CV1543936single nucleotide variantNM_000626.4(CD79B):c.282C>T (p.Gly94=)Agammaglobulinemia 6, autosomal recessive [RCV002161981]likely benign176393022263930222Human1name , alternate_id
152156340CV1589539single nucleotide variantNM_000626.4(CD79B):c.255T>C (p.Asn85=)Agammaglobulinemia 6, autosomal recessive [RCV002122485]likely benign176393024963930249Human1name , alternate_id
152045304CV1590679single nucleotide variantNM_001783.4(CD79A):c.204C>T (p.Arg68=)Agammaglobulinemia 3, autosomal recessive [RCV002108275]likely benign194187911441879114Human1name , alternate_id
152047780CV1591434single nucleotide variantNM_000626.4(CD79B):c.100C>A (p.Arg34=)Agammaglobulinemia 6, autosomal recessive [RCV002189027]likely benign176393135363931353Human1name , alternate_id
152165820CV1611454single nucleotide variantNM_000626.4(CD79B):c.261G>A (p.Gln87=)Agammaglobulinemia 6, autosomal recessive [RCV002141794]likely benign176393024363930243Human1name , alternate_id
156111063CV1903924single nucleotide variantNM_000626.4(CD79B):c.162C>T (p.Ala54=)Agammaglobulinemia 6, autosomal recessive [RCV003080973]likely benign176393034263930342Human1name , alternate_id
156370276CV1923472single nucleotide variantNM_001783.4(CD79A):c.189C>T (p.Asn63=)Agammaglobulinemia 3, autosomal recessive [RCV002633329]likely benign194187909941879099Human1name , alternate_id
156437256CV1937391single nucleotide variantNM_001783.4(CD79A):c.108C>T (p.His36=)Agammaglobulinemia 3, autosomal recessive [RCV003106787]likely benign194187901841879018Human1name , alternate_id
156230476CV2074924single nucleotide variantNM_000626.4(CD79B):c.294G>A (p.Glu98=)Agammaglobulinemia 6, autosomal recessive [RCV002830029]likely benign176393021063930210Human1name , alternate_id
156126422CV2088409single nucleotide variantNM_001783.4(CD79A):c.150C>T (p.Ala50=)Agammaglobulinemia 3, autosomal recessive [RCV002871468]likely benign194187906041879060Human1name , alternate_id
155931392CV2370906single nucleotide variantNM_001783.4(CD79A):c.13C>T (p.Pro5Ser)not specified [RCV004218636]uncertain significance194187731741877317Humanname
401906786CV2795693single nucleotide variantNM_001252.5(CD70):c.345C>T (p.Cys115=)not specified [RCV003397045]benign1965862576586257Humanname
405038784CV2929579single nucleotide variantNM_001783.4(CD79A):c.120A>C (p.Ala40=)Agammaglobulinemia 3, autosomal recessive [RCV003517757]likely benign194187903041879030Human1name , alternate_id
402522506CV2965834single nucleotide variantNM_000626.4(CD79B):c.144G>A (p.Gln48=)Agammaglobulinemia 6, autosomal recessive [RCV003630320]likely benign176393036063930360Human1name , alternate_id
405047788CV3006773single nucleotide variantNM_000626.4(CD79B):c.225C>T (p.Ser75=)Agammaglobulinemia 6, autosomal recessive [RCV003630916]likely benign176393027963930279Human1name , alternate_id
402508389CV3055812single nucleotide variantNM_000626.4(CD79B):c.132G>A (p.Ser44=)Agammaglobulinemia 6, autosomal recessive [RCV003629078]likely benign176393037263930372Human1name , alternate_id
402515424CV3066221single nucleotide variantNM_000626.4(CD79B):c.279G>A (p.Lys93=)Agammaglobulinemia 6, autosomal recessive [RCV003629804]likely benign176393022563930225Human1name , alternate_id
405772503CV3299861single nucleotide variantNM_001252.5(CD70):c.73C>A (p.Pro25Thr)Inborn genetic diseases [RCV004435533]uncertain significance1965909306590930Human1name
597778717CV3648491single nucleotide variantNM_001782.3(CD72):c.81G>C (p.Gln27His)not specified [RCV004899093]uncertain significance93561822335618223Humanname
597877512CV3776029single nucleotide variantNM_001783.4(CD79A):c.159A>G (p.Gln53=)Agammaglobulinemia 3, autosomal recessive [RCV005123556]likely benign194187906941879069Human1name , alternate_id
597959856CV3843478single nucleotide variantNM_000626.4(CD79B):c.105C>T (p.Tyr35=)Agammaglobulinemia 6, autosomal recessive [RCV005192514]likely benign176393134863931348Human1name , alternate_id
597918535CV3861561single nucleotide variantNM_000626.4(CD79B):c.192C>T (p.His64=)Agammaglobulinemia 6, autosomal recessive [RCV005204717]likely benign176393031263930312Human1name , alternate_id
14350051CV590635deletionNM_001252.5(CD70):c.250del (p.Ser84fs)Severe combined immunodeficiency due to CD70 deficiency [RCV000735976]pathogenic1965863526586352Human1name , trait
15128021CV740938single nucleotide variantNM_000626.4(CD79B):c.102G>C (p.Arg34=)Agammaglobulinemia 6, autosomal recessive [RCV000897201]benign176393135163931351Human1name , alternate_id
15126568CV785684single nucleotide variantNM_000626.4(CD79B):c.165G>A (p.Arg55=)Agammaglobulinemia 6, autosomal recessive [RCV001457884]likely benign176393033963930339Human1name , alternate_id
15120340CV785685single nucleotide variantNM_000626.4(CD79B):c.120T>A (p.Gly40=)Agammaglobulinemia 6, autosomal recessive [RCV001421245]likely benign176393038463930384Human1name , alternate_id
15115723CV786207single nucleotide variantNM_001783.4(CD79A):c.147C>T (p.Asp49=)Agammaglobulinemia 3, autosomal recessive [RCV002066473]likely benign194187905741879057Human1name , alternate_id
38475920CV938117single nucleotide variantNM_000626.4(CD79B):c.14C>T (p.Ala5Val)Agammaglobulinemia 6, autosomal recessive [RCV001204451]|not provided [RCV001531442]uncertain significance176393224863932248Human1name , alternate_id
127276076CV1083363single nucleotide variantNM_000626.4(CD79B):c.498G>A (p.Thr166=)Agammaglobulinemia 6, autosomal recessive [RCV001407040]likely benign176392982163929821Human1name , alternate_id
127232742CV1084777single nucleotide variantNM_001783.4(CD79A):c.465C>T (p.Cys155=)Agammaglobulinemia 3, autosomal recessive [RCV001413598]likely benign194187962041879620Human1name , alternate_id
127284008CV1105155single nucleotide variantNM_000626.4(CD79B):c.648G>A (p.Gly216=)Agammaglobulinemia 6, autosomal recessive [RCV001448915]likely benign176392926863929268Human1name , alternate_id
127274772CV1105157single nucleotide variantNM_000626.4(CD79B):c.390G>A (p.Ser130=)Agammaglobulinemia 6, autosomal recessive [RCV001432067]likely benign176393011463930114Human1name , alternate_id
127262844CV1106552single nucleotide variantNM_001783.4(CD79A):c.400C>T (p.Leu134=)Agammaglobulinemia 3, autosomal recessive [RCV001439145]likely benign194187955541879555Human1name , alternate_id
127271219CV1106553single nucleotide variantNM_001783.4(CD79A):c.552T>C (p.Asp184=)Agammaglobulinemia 3, autosomal recessive [RCV001441746]likely benign194188072341880723Human1name , alternate_id
127294490CV1126534single nucleotide variantNM_000626.4(CD79B):c.678A>C (p.Pro226=)Agammaglobulinemia 6, autosomal recessive [RCV001452252]likely benign176392923863929238Human1name , alternate_id
127311946CV1147451single nucleotide variantNM_000626.4(CD79B):c.372G>A (p.Gln124=)Agammaglobulinemia 6, autosomal recessive [RCV001481574]likely benign176393013263930132Human1name , alternate_id
127298996CV1148892single nucleotide variantNM_001783.4(CD79A):c.327G>A (p.Gln109=)Agammaglobulinemia 3, autosomal recessive [RCV001498200]likely benign194187923741879237Human1name , alternate_id
8687137CV137570single nucleotide variantNM_001783.4(CD79A):c.28G>A (p.Ala10Thr)Agammaglobulinemia 3, autosomal recessive [RCV001401104]|not specified [RCV000120483]likely benign|uncertain significance|not provided194187733241877332Human1name , alternate_id
151780812CV1458194single nucleotide variantNM_001783.4(CD79A):c.309A>C (p.Ile103=)Agammaglobulinemia 3, autosomal recessive [RCV001951056]likely benign194187921941879219Human1name , alternate_id
151792708CV1490203single nucleotide variantNM_000626.4(CD79B):c.591G>A (p.Glu197=)Agammaglobulinemia 6, autosomal recessive [RCV001952198]uncertain significance176392943463929434Human1name , alternate_id
152063810CV1535681single nucleotide variantNM_000626.4(CD79B):c.567C>T (p.Gly189=)Agammaglobulinemia 6, autosomal recessive [RCV002168344]likely benign176392945863929458Human1name , alternate_id
152169962CV1546792single nucleotide variantNM_000626.4(CD79B):c.636G>A (p.Thr212=)Agammaglobulinemia 6, autosomal recessive [RCV002142962]likely benign176392928063929280Human1name , alternate_id
152116959CV1555995single nucleotide variantNM_001783.4(CD79A):c.453C>T (p.Ile151=)Agammaglobulinemia 3, autosomal recessive [RCV002216268]likely benign194187960841879608Human1name , alternate_id
152102855CV1560473single nucleotide variantNM_000626.4(CD79B):c.522C>T (p.Ile174=)Agammaglobulinemia 6, autosomal recessive [RCV002152021]likely benign176392979763929797Human1name , alternate_id
152040371CV1561635single nucleotide variantNM_000626.4(CD79B):c.351T>C (p.Asn117=)Agammaglobulinemia 6, autosomal recessive [RCV002188168]likely benign176393015363930153Human1name , alternate_id
152126005CV1565730single nucleotide variantNM_000626.4(CD79B):c.585C>G (p.Thr195=)Agammaglobulinemia 6, autosomal recessive [RCV002136321]likely benign176392944063929440Human1name , alternate_id
152141306CV1571519single nucleotide variantNM_001783.4(CD79A):c.372C>T (p.Arg124=)Agammaglobulinemia 3, autosomal recessive [RCV002138212]likely benign194187928241879282Human1name , alternate_id
152138584CV1572298single nucleotide variantNM_001783.4(CD79A):c.678G>A (p.Pro226=)Agammaglobulinemia 3, autosomal recessive [RCV002219065]likely benign194188097741880977Human1name , alternate_id
152173060CV1572714single nucleotide variantNM_000626.4(CD79B):c.408C>T (p.Cys136=)Agammaglobulinemia 6, autosomal recessive [RCV002162669]likely benign176393009663930096Human1name , alternate_id
152063754CV1575232single nucleotide variantNM_000626.4(CD79B):c.405C>T (p.Gly135=)Agammaglobulinemia 6, autosomal recessive [RCV002110462]likely benign176393009963930099Human1name , alternate_id
152171501CV1628353single nucleotide variantNM_001783.4(CD79A):c.387C>T (p.Pro129=)Agammaglobulinemia 3, autosomal recessive [RCV002183520]likely benign194187954241879542Human1name , alternate_id
152113426CV1644628single nucleotide variantNM_000626.4(CD79B):c.354C>T (p.Gly118=)Agammaglobulinemia 6, autosomal recessive [RCV002174618]likely benign176393015063930150Human1name , alternate_id
152039685CV1649049single nucleotide variantNM_001783.4(CD79A):c.483G>A (p.Thr161=)Agammaglobulinemia 3, autosomal recessive [RCV002206156]likely benign194187963841879638Human1name , alternate_id
156360616CV1898898single nucleotide variantNM_000626.4(CD79B):c.363C>T (p.Phe121=)Agammaglobulinemia 6, autosomal recessive [RCV003091682]likely benign176393014163930141Human1name , alternate_id
156409361CV1922636single nucleotide variantNM_000626.4(CD79B):c.462G>A (p.Arg154=)Agammaglobulinemia 6, autosomal recessive [RCV002607533]likely benign176392985763929857Human1name , alternate_id
156066342CV1925945single nucleotide variantNM_000626.4(CD79B):c.387C>T (p.Thr129=)Agammaglobulinemia 6, autosomal recessive [RCV002621111]likely benign176393011763930117Human1name , alternate_id
156363034CV1931874single nucleotide variantNM_000626.4(CD79B):c.621T>C (p.Tyr207=)Agammaglobulinemia 6, autosomal recessive [RCV002632809]likely benign176392929563929295Human1name , alternate_id
156169744CV1956200single nucleotide variantNM_000626.4(CD79B):c.672G>A (p.Glu224=)Agammaglobulinemia 6, autosomal recessive [RCV002573775]likely benign176392924463929244Human1name , alternate_id
156311259CV2000097single nucleotide variantNM_001783.4(CD79A):c.384G>A (p.Pro128=)Agammaglobulinemia 3, autosomal recessive [RCV002671649]likely benign194187953941879539Human1name , alternate_id
156031219CV2001268single nucleotide variantNM_000626.4(CD79B):c.501G>A (p.Leu167=)Agammaglobulinemia 6, autosomal recessive [RCV002658667]likely benign176392981863929818Human1name , alternate_id
155908828CV2017483single nucleotide variantNM_000626.4(CD79B):c.94G>C (p.Glu32Gln)Agammaglobulinemia 6, autosomal recessive [RCV002681565]uncertain significance176393135963931359Human1name , alternate_id
156242790CV2043870single nucleotide variantNM_001783.4(CD79A):c.357C>T (p.Cys119=)Agammaglobulinemia 3, autosomal recessive [RCV002805736]likely benign194187926741879267Human1name , alternate_id
156152818CV2049169single nucleotide variantNM_000626.4(CD79B):c.480T>A (p.Gly160=)Agammaglobulinemia 6, autosomal recessive [RCV002801348]likely benign176392983963929839Human1name , alternate_id
156133922CV2097255single nucleotide variantNM_001783.4(CD79A):c.427C>A (p.Arg143=)Agammaglobulinemia 3, autosomal recessive [RCV002890052]likely benign194187958241879582Human1name , alternate_id
156265232CV2100900single nucleotide variantNM_000626.4(CD79B):c.669T>C (p.Gly223=)Agammaglobulinemia 6, autosomal recessive [RCV002877413]likely benign176392924763929247Human1name , alternate_id
156161297CV2371409single nucleotide variantNM_001252.5(CD70):c.290G>A (p.Arg97His)Inborn genetic diseases [RCV002698276]uncertain significance1965863126586312Human1name
329384035CV2434944single nucleotide variantNM_001252.5(CD70):c.103G>A (p.Val35Met)Inborn genetic diseases [RCV003188932]uncertain significance1965909006590900Human1name
401757860CV2708002single nucleotide variantNM_001252.5(CD70):c.215G>A (p.Arg72Lys)Inborn genetic diseases [RCV003256193]uncertain significance1965863876586387Human1name
405058151CV2976414single nucleotide variantNM_001783.4(CD79A):c.519G>A (p.Lys173=)Agammaglobulinemia 3, autosomal recessive [RCV003631683]likely benign194188069041880690Human1name , alternate_id
405058114CV2993494single nucleotide variantNM_001783.4(CD79A):c.561T>G (p.Leu187=)Agammaglobulinemia 3, autosomal recessive [RCV003631985]likely benign194188073241880732Human1name , alternate_id
402506831CV3050009single nucleotide variantNM_000626.4(CD79B):c.534C>T (p.Phe178=)Agammaglobulinemia 6, autosomal recessive [RCV003628892]likely benign176392978563929785Human1name , alternate_id
405176393CV3152340single nucleotide variantNM_001783.4(CD79A):c.525G>T (p.Gly175=)Agammaglobulinemia 3, autosomal recessive [RCV003858295]likely benign194188069641880696Human1name , alternate_id
405772475CV3299857single nucleotide variantNM_001252.5(CD70):c.260A>G (p.His87Arg)Inborn genetic diseases [RCV004435529]likely benign1965863426586342Human1name
405772510CV3299862single nucleotide variantNM_001782.3(CD72):c.251G>T (p.Arg84Leu)not specified [RCV004435534]uncertain significance93561718735617187Humanname
596926095CV3539735single nucleotide variantNM_001252.5(CD70):c.248G>A (p.Arg83His)not provided [RCV004790726]uncertain significance1965863546586354Humanname
597778714CV3648489single nucleotide variantNM_001782.3(CD72):c.242C>T (p.Ala81Val)not specified [RCV004899092]uncertain significance93561719635617196Humanname
597832369CV3751351single nucleotide variantNM_000626.4(CD79B):c.687G>A (p.Glu229=)Agammaglobulinemia 6, autosomal recessive [RCV005084897]likely benign176392922963929229Human1name , alternate_id
597955577CV3754436single nucleotide variantNM_001783.4(CD79A):c.490C>T (p.Leu164=)Agammaglobulinemia 3, autosomal recessive [RCV005080286]likely benign194187964541879645Human1name , alternate_id
597858786CV3769673single nucleotide variantNM_000626.4(CD79B):c.588C>T (p.Tyr196=)Agammaglobulinemia 6, autosomal recessive [RCV005105716]likely benign176392943763929437Human1name , alternate_id
597887879CV3787644single nucleotide variantNM_000626.4(CD79B):c.318C>A (p.Thr106=)Agammaglobulinemia 6, autosomal recessive [RCV005125210]likely benign176393018663930186Human1name , alternate_id
597958791CV3797374single nucleotide variantNM_000626.4(CD79B):c.657G>A (p.Lys219=)Agammaglobulinemia 6, autosomal recessive [RCV005138061]likely benign176392925963929259Human1name , alternate_id
12896111CV390202single nucleotide variantNM_000626.4(CD79B):c.366T>C (p.Cys122=)Agammaglobulinemia 6, autosomal recessive [RCV001523215]|not provided [RCV001643145]|not specified [RCV000454896]benign176393013863930138Human2name , alternate_id
617150083CV4021624deletionNM_001252.5(CD70):c.554del (p.Phe185fs)not provided [RCV005425593]uncertain significance1965860486586048Humanname
13465760CV468149single nucleotide variantNM_000626.4(CD79B):c.312C>T (p.Leu104=)Agammaglobulinemia 6, autosomal recessive [RCV000548339]|not provided [RCV004711168]benign176393019263930192Human1name , alternate_id
13506541CV470263single nucleotide variantNM_001783.4(CD79A):c.534C>T (p.Ala178=)Agammaglobulinemia 3, autosomal recessive [RCV000576241]likely benign194188070541880705Human1name , alternate_id
13621265CV531451single nucleotide variantNM_000626.4(CD79B):c.381C>T (p.Asn127=)Agammaglobulinemia 6, autosomal recessive [RCV000648113]likely benign176393012363930123Human1name , alternate_id
14399114CV614442single nucleotide variantNM_000626.4(CD79B):c.414A>G (p.Thr138=)Agammaglobulinemia 6, autosomal recessive [RCV000768173]uncertain significance176393009063930090Human1name , alternate_id
14742046CV648144single nucleotide variantNM_001783.4(CD79A):c.64T>A (p.Ser22Thr)Agammaglobulinemia 3, autosomal recessive [RCV000822533]uncertain significance194187736841877368Human1name , alternate_id
15185652CV704283single nucleotide variantNM_000626.4(CD79B):c.645A>G (p.Thr215=)Agammaglobulinemia 6, autosomal recessive [RCV000953046]likely benign176392927163929271Human1name , alternate_id
15180051CV741923single nucleotide variantNM_001783.4(CD79A):c.375G>A (p.Val125=)Agammaglobulinemia 3, autosomal recessive [RCV001483772]likely benign194187928541879285Human1name , alternate_id
15147258CV741924single nucleotide variantNM_001783.4(CD79A):c.513C>T (p.Asn171=)Agammaglobulinemia 3, autosomal recessive [RCV000900481]likely benign194188068441880684Human1name , alternate_id
15124613CV756022single nucleotide variantNM_000626.4(CD79B):c.303C>T (p.Asn101=)Agammaglobulinemia 6, autosomal recessive [RCV000919013]likely benign176393020163930201Human1name , alternate_id
15127231CV757053single nucleotide variantNM_001783.4(CD79A):c.459G>A (p.Leu153=)not provided [RCV000919460]likely benign194187961441879614Humanname
15121771CV771717single nucleotide variantNM_000626.4(CD79B):c.468G>A (p.Thr156=)Agammaglobulinemia 6, autosomal recessive [RCV001454711]likely benign176392985163929851Human1name , alternate_id
15185233CV772715single nucleotide variantNM_001783.4(CD79A):c.312C>T (p.Tyr104=)Agammaglobulinemia 3, autosomal recessive [RCV002544432]|not provided [RCV000931002]likely benign194187922241879222Human1name , alternate_id
15184523CV772716single nucleotide variantNM_001783.4(CD79A):c.336C>T (p.Asn112=)Agammaglobulinemia 3, autosomal recessive [RCV000930829]likely benign194187924641879246Human1name , alternate_id
15146634CV772717single nucleotide variantNM_001783.4(CD79A):c.582C>T (p.Asp194=)Agammaglobulinemia 3, autosomal recessive [RCV001396288]|not provided [RCV004704357]likely benign194188088141880881Human1name , alternate_id
26913114CV845849single nucleotide variantNM_000626.4(CD79B):c.47C>T (p.Ala16Val)Agammaglobulinemia 6, autosomal recessive [RCV001054030]uncertain significance176393221563932215Human1name , alternate_id
38497575CV958237single nucleotide variantNM_000626.4(CD79B):c.92C>G (p.Ser31Trp)Agammaglobulinemia 6, autosomal recessive [RCV001243256]uncertain significance176393136163931361Human1name , alternate_id
126741704CV998623single nucleotide variantNM_001783.4(CD79A):c.80G>T (p.Gly27Val)Agammaglobulinemia 3, autosomal recessive [RCV001295939]uncertain significance194187899041878990Human1name , alternate_id
126741024CV1013754single nucleotide variantNM_001783.4(CD79A):c.137T>C (p.Leu46Pro)Agammaglobulinemia 3, autosomal recessive [RCV001325286]uncertain significance194187904741879047Human1name , alternate_id
126733768CV1013755single nucleotide variantNM_001783.4(CD79A):c.182A>T (p.Asn61Ile)Agammaglobulinemia 3, autosomal recessive [RCV001313454]uncertain significance194187909241879092Human1name , alternate_id
126745193CV1033510single nucleotide variantNM_000626.4(CD79B):c.131C>T (p.Ser44Leu)Agammaglobulinemia 6, autosomal recessive [RCV001351377]uncertain significance176393037363930373Human1name , alternate_id
126755556CV1034325single nucleotide variantNM_001783.4(CD79A):c.128T>A (p.Met43Lys)Agammaglobulinemia 3, autosomal recessive [RCV001339065]uncertain significance194187903841879038Human1name , alternate_id
126759296CV1034326single nucleotide variantNM_001783.4(CD79A):c.202C>T (p.Arg68Cys)Agammaglobulinemia 3, autosomal recessive [RCV001340090]uncertain significance194187911241879112Human1name , alternate_id
126915344CV1050491single nucleotide variantNM_000626.4(CD79B):c.106C>T (p.Arg36Trp)Agammaglobulinemia 6, autosomal recessive [RCV001359933]uncertain significance176393134763931347Human1name , alternate_id
126922402CV1051334single nucleotide variantNM_001783.4(CD79A):c.259C>T (p.Pro87Ser)Agammaglobulinemia 3, autosomal recessive [RCV001364634]uncertain significance194187916941879169Human1name , alternate_id
151810980CV1340864single nucleotide variantNM_001783.4(CD79A):c.263A>G (p.Asn88Ser)Agammaglobulinemia 3, autosomal recessive [RCV001974769]uncertain significance194187917341879173Human1name , alternate_id
8687138CV137571single nucleotide variantNM_001783.4(CD79A):c.258C>A (p.Asp86Glu)Agammaglobulinemia 3, autosomal recessive [RCV000685379]|not specified [RCV000120484]uncertain significance|not provided194187916841879168Human1name , alternate_id
8687144CV137577single nucleotide variantNM_000626.4(CD79B):c.218A>C (p.Asn73Thr)Agammaglobulinemia 6, autosomal recessive [RCV000792433]|not specified [RCV000120490]uncertain significance|not provided176393028663930286Human1name , alternate_id
8687145CV137578single nucleotide variantNM_000626.4(CD79B):c.179C>T (p.Thr60Met)Agammaglobulinemia 6, autosomal recessive [RCV002517579]|not provided [RCV001508823]|not specified [RCV000120491]uncertain significance|not provided176393032563930325Human1name , alternate_id
151714855CV1388777single nucleotide variantNM_000626.4(CD79B):c.205A>G (p.Ser69Gly)Agammaglobulinemia 6, autosomal recessive [RCV002002730]uncertain significance176393029963930299Human1name , alternate_id
151889642CV1420294single nucleotide variantNM_000626.4(CD79B):c.152G>A (p.Arg51His)Agammaglobulinemia 6, autosomal recessive [RCV002001339]uncertain significance176393035263930352Human1name , alternate_id
151783732CV1474304single nucleotide variantNM_001783.4(CD79A):c.164C>T (p.Pro55Leu)Agammaglobulinemia 3, autosomal recessive [RCV001875606]|not specified [RCV004041428]likely benign|uncertain significance194187907441879074Human1name , alternate_id
156013397CV1880688single nucleotide variantNM_001783.4(CD79A):c.190G>A (p.Val64Ile)Agammaglobulinemia 3, autosomal recessive [RCV003077222]uncertain significance194187910041879100Human1name , alternate_id
156271014CV1970943single nucleotide variantNM_000626.4(CD79B):c.217A>G (p.Asn73Asp)Agammaglobulinemia 6, autosomal recessive [RCV002598090]uncertain significance176393028763930287Human1name , alternate_id
156393760CV1984256single nucleotide variantNM_000626.4(CD79B):c.160G>A (p.Ala54Thr)Agammaglobulinemia 6, autosomal recessive [RCV002635251]uncertain significance176393034463930344Human1name , alternate_id
156116346CV1993958single nucleotide variantNM_001783.4(CD79A):c.188A>T (p.Asn63Ile)Agammaglobulinemia 3, autosomal recessive [RCV002662680]uncertain significance194187909841879098Human1name , alternate_id
155913044CV2021799single nucleotide variantNM_000626.4(CD79B):c.256C>A (p.Pro86Thr)Agammaglobulinemia 6, autosomal recessive [RCV002726941]uncertain significance176393024863930248Human1name , alternate_id
155994726CV2023516single nucleotide variantNM_000626.4(CD79B):c.124G>A (p.Ala42Thr)Agammaglobulinemia 6, autosomal recessive [RCV002755908]uncertain significance176393038063930380Human1name , alternate_id
156335759CV2109277single nucleotide variantNM_001783.4(CD79A):c.253G>A (p.Glu85Lys)Agammaglobulinemia 3, autosomal recessive [RCV002938625]uncertain significance194187916341879163Human1name , alternate_id
156380511CV2117951single nucleotide variantNM_000626.4(CD79B):c.170G>C (p.Arg57Pro)Agammaglobulinemia 6, autosomal recessive [RCV002943104]uncertain significance176393033463930334Human1name , alternate_id
156298436CV2159427single nucleotide variantNM_001783.4(CD79A):c.242T>C (p.Leu81Ser)Agammaglobulinemia 3, autosomal recessive [RCV003045436]uncertain significance194187915241879152Human1name , alternate_id
156250436CV2199731single nucleotide variantNM_001252.5(CD70):c.388G>A (p.Val130Met)Inborn genetic diseases [RCV002668347]|not provided [RCV004790403]uncertain significance1965862146586214Human1name
155923670CV2212333single nucleotide variantNM_001782.3(CD72):c.404C>A (p.Thr135Asn)not specified [RCV004091281]uncertain significance93561622735616227Humanname
156340518CV2229505single nucleotide variantNM_001782.3(CD72):c.592A>T (p.Thr198Ser)not specified [RCV004103047]uncertain significance93561603935616039Humanname
156157741CV2235344single nucleotide variantNM_001252.5(CD70):c.511C>T (p.Leu171Phe)Inborn genetic diseases [RCV002787290]uncertain significance1965860916586091Human1name
155924919CV2358235single nucleotide variantNM_001252.5(CD70):c.353C>T (p.Thr118Met)Inborn genetic diseases [RCV002992476]uncertain significance1965862496586249Human1name
156256887CV2368792single nucleotide variantNM_001782.3(CD72):c.584C>T (p.Thr195Met)not specified [RCV004214668]uncertain significance93561604735616047Humanname
156387042CV2372614single nucleotide variantNM_001782.3(CD72):c.679G>A (p.Gly227Ser)not specified [RCV004221819]likely benign93561595235615952Humanname
156349059CV2376429single nucleotide variantNM_001782.3(CD72):c.556C>G (p.Gln186Glu)not specified [RCV004220612]uncertain significance93561607535616075Humanname
155963383CV2388389single nucleotide variantNM_000626.4(CD79B):c.101G>A (p.Arg34Gln)not specified [RCV004234838]uncertain significance176393135263931352Humanname
156055788CV2388701single nucleotide variantNM_001782.3(CD72):c.940C>A (p.Gln314Lys)not specified [RCV004239572]uncertain significance93561181435611814Humanname
329401089CV2446107single nucleotide variantNM_001782.3(CD72):c.572A>G (p.Asp191Gly)not specified [RCV004270661]uncertain significance93561605935616059Humanname
401740811CV2680484single nucleotide variantNM_001782.3(CD72):c.437A>G (p.Lys146Arg)not specified [RCV004291127]uncertain significance93561619435616194Humanname
401749238CV2693021single nucleotide variantNM_001025159.3(CD74):c.26G>C (p.Cys9Ser)not specified [RCV004308571]uncertain significance5150412724150412724Humanname
401754268CV2726871single nucleotide variantNM_001782.3(CD72):c.308C>T (p.Thr103Ile)not specified [RCV004323165]uncertain significance93561664435616644Humanname
401768416CV2735298single nucleotide variantNM_001782.3(CD72):c.532C>T (p.His178Tyr)not specified [RCV004333964]uncertain significance93561609935616099Humanname
401883297CV2760883single nucleotide variantNM_001782.3(CD72):c.544G>A (p.Glu182Lys)not specified [RCV004336518]uncertain significance93561608735616087Humanname
401878831CV2770329single nucleotide variantNM_001252.5(CD70):c.497C>T (p.Thr166Ile)Inborn genetic diseases [RCV003384471]uncertain significance1965861056586105Human1name
401895746CV2771011single nucleotide variantNM_001252.5(CD70):c.574C>A (p.Arg192Ser)Inborn genetic diseases [RCV003373233]uncertain significance1965860286586028Human1name
401866374CV2782780single nucleotide variantNM_001252.5(CD70):c.449G>T (p.Gly150Val)Inborn genetic diseases [RCV003379598]uncertain significance1965861536586153Human1name
8599966CV29842single nucleotide variantNM_000626.4(CD79B):c.238C>T (p.Gln80Ter)Agammaglobulinemia 6, autosomal recessive [RCV000015926]pathogenic176393026663930266Human1name , alternate_id
405042930CV2994362single nucleotide variantNM_000626.4(CD79B):c.245T>G (p.Met82Arg)Agammaglobulinemia 6, autosomal recessive [RCV003630555]uncertain significance176393025963930259Human1name , alternate_id
405772498CV3299860single nucleotide variantNM_001252.5(CD70):c.352A>G (p.Thr118Ala)Inborn genetic diseases [RCV004435532]uncertain significance1965862506586250Human1name
405772527CV3299865single nucleotide variantNM_001782.3(CD72):c.761G>T (p.Trp254Leu)not specified [RCV004435537]uncertain significance93561292135612921Humanname
405772532CV3299866single nucleotide variantNM_001782.3(CD72):c.970A>G (p.Lys324Glu)not specified [RCV004435538]uncertain significance93561073435610734Humanname
405772537CV3299867single nucleotide variantNM_001782.3(CD72):c.992C>T (p.Thr331Ile)not specified [RCV004435539]uncertain significance93561071235610712Humanname
405772555CV3299870single nucleotide variantNM_000626.4(CD79B):c.214G>A (p.Gly72Ser)not specified [RCV004435542]likely benign176393029063930290Humanname
407454696CV3425008single nucleotide variantNM_001252.5(CD70):c.377C>T (p.Thr126Ile)Inborn genetic diseases [RCV004609946]uncertain significance1965862256586225Human1name
407498847CV3425009single nucleotide variantNM_001252.5(CD70):c.413G>A (p.Arg138His)Inborn genetic diseases [RCV004606590]likely benign1965861896586189Human1name
407498835CV3425014single nucleotide variantNM_000626.4(CD79B):c.109A>C (p.Asn37His)not specified [RCV004606594]uncertain significance176393134463931344Humanname
407498831CV3425015single nucleotide variantNM_000626.4(CD79B):c.112C>T (p.Pro38Ser)not specified [RCV004606595]uncertain significance176393134163931341Humanname
596926091CV3539734single nucleotide variantNM_001252.5(CD70):c.356C>T (p.Thr119Met)not provided [RCV004790725]uncertain significance1965862466586246Humanname
597631493CV3648488single nucleotide variantNM_001252.5(CD70):c.320A>C (p.His107Pro)Inborn genetic diseases [RCV004967724]uncertain significance1965862826586282Human1name
597738858CV3648490single nucleotide variantNM_001782.3(CD72):c.871G>T (p.Gly291Cys)not specified [RCV004890206]uncertain significance93561188335611883Humanname
597778744CV3648500single nucleotide variantNM_000626.4(CD79B):c.101G>C (p.Arg34Pro)not specified [RCV004899100]uncertain significance176393135263931352Humanname
598207752CV3950830single nucleotide variantNM_001252.5(CD70):c.349T>C (p.Ser117Pro)Inborn genetic diseases [RCV005315339]uncertain significance1965862536586253Human1name
598166664CV3950831single nucleotide variantNM_001782.3(CD72):c.772C>A (p.Gln258Lys)not specified [RCV005307924]uncertain significance93561291035612910Humanname
598229094CV3950832single nucleotide variantNM_001782.3(CD72):c.667T>C (p.Phe223Leu)not specified [RCV005319166]likely benign93561596435615964Humanname
598166671CV3950833single nucleotide variantNM_001783.4(CD79A):c.257A>C (p.Asp86Ala)not specified [RCV005307925]uncertain significance194187916741879167Humanname
13816982CV572530single nucleotide variantNM_001783.4(CD79A):c.269C>T (p.Thr90Met)Agammaglobulinemia 3, autosomal recessive [RCV000706721]uncertain significance194187917941879179Human1name , alternate_id
13815605CV573150single nucleotide variantNM_001783.4(CD79A):c.198G>A (p.Trp66Ter)Agammaglobulinemia 3, autosomal recessive [RCV000691714]pathogenic194187910841879108Human1name , alternate_id
13812879CV573151single nucleotide variantNM_001783.4(CD79A):c.224C>A (p.Thr75Lys)Agammaglobulinemia 3, autosomal recessive [RCV000689793]uncertain significance194187913441879134Human1name , alternate_id
13808270CV574566single nucleotide variantNM_000626.4(CD79B):c.250G>A (p.Glu84Lys)Agammaglobulinemia 6, autosomal recessive [RCV000687195]uncertain significance176393025463930254Human1name , alternate_id
14350126CV590634single nucleotide variantNM_001252.5(CD70):c.535C>T (p.Arg179Ter)Severe combined immunodeficiency due to CD70 deficiency [RCV000735975]pathogenic1965860676586067Human1name , trait
14724714CV646387single nucleotide variantNM_000626.4(CD79B):c.286A>G (p.Met96Val)Agammaglobulinemia 6, autosomal recessive [RCV000798503]uncertain significance176393021863930218Human1name , alternate_id
14716401CV646388single nucleotide variantNM_000626.4(CD79B):c.208G>A (p.Ala70Thr)Agammaglobulinemia 6, autosomal recessive [RCV000795110]uncertain significance176393029663930296Human1name , alternate_id
14730563CV648145single nucleotide variantNM_001783.4(CD79A):c.188A>G (p.Asn63Ser)Agammaglobulinemia 3, autosomal recessive [RCV000801006]|not specified [RCV004887660]uncertain significance194187909841879098Human1name , alternate_id
26905356CV845848single nucleotide variantNM_000626.4(CD79B):c.272T>C (p.Leu91Pro)Agammaglobulinemia 6, autosomal recessive [RCV001051254]uncertain significance176393023263930232Human1name , alternate_id
26915052CV847730single nucleotide variantNM_001783.4(CD79A):c.134G>C (p.Ser45Thr)Agammaglobulinemia 3, autosomal recessive [RCV001041092]uncertain significance194187904441879044Human1name , alternate_id
26903061CV847731single nucleotide variantNM_001783.4(CD79A):c.184G>A (p.Ala62Thr)Agammaglobulinemia 3, autosomal recessive [RCV001036083]uncertain significance194187909441879094Human1name , alternate_id
26900282CV847732single nucleotide variantNM_001783.4(CD79A):c.203G>A (p.Arg68His)Agammaglobulinemia 3, autosomal recessive [RCV001035269]|not provided [RCV003413815]likely benign|uncertain significance194187911341879113Human1name , alternate_id
26901911CV847733single nucleotide variantNM_001783.4(CD79A):c.224C>T (p.Thr75Met)Agammaglobulinemia 3, autosomal recessive [RCV001035807]uncertain significance194187913441879134Human1name , alternate_id
126762391CV998624single nucleotide variantNM_001783.4(CD79A):c.179A>G (p.Asn60Ser)Agammaglobulinemia 3, autosomal recessive [RCV001300381]|not specified [RCV004897670]uncertain significance194187908941879089Human1name , alternate_id
126760765CV1012961single nucleotide variantNM_000626.4(CD79B):c.542T>A (p.Leu181Gln)Agammaglobulinemia 6, autosomal recessive [RCV001318435]uncertain significance176392977763929777Human1name , alternate_id
126766856CV1013756single nucleotide variantNM_001783.4(CD79A):c.377G>A (p.Arg126His)Agammaglobulinemia 3, autosomal recessive [RCV001320618]uncertain significance194187928741879287Human1name , alternate_id
126752635CV1034327single nucleotide variantNM_001783.4(CD79A):c.373G>A (p.Val125Met)Agammaglobulinemia 3, autosomal recessive [RCV001338464]|not provided [RCV002261345]uncertain significance194187928341879283Human1name , alternate_id
126909757CV1036911single nucleotide variantNM_001783.4(CD79A):c.374T>G (p.Val125Gly)Agammaglobulinemia 3, autosomal recessive [RCV001354050]uncertain significance194187928441879284Human1name , alternate_id
126910810CV1051335single nucleotide variantNM_001783.4(CD79A):c.523G>A (p.Gly175Arg)Agammaglobulinemia 3, autosomal recessive [RCV001368933]uncertain significance194188069441880694Human1name , alternate_id
126919834CV1051336single nucleotide variantNM_001783.4(CD79A):c.653T>A (p.Ile218Lys)Agammaglobulinemia 3, autosomal recessive [RCV001362520]|not specified [RCV004036839]uncertain significance194188095241880952Human1name , alternate_id
126924130CV1051337single nucleotide variantNM_001783.4(CD79A):c.677C>T (p.Pro226Leu)Agammaglobulinemia 3, autosomal recessive [RCV001366670]uncertain significance194188097641880976Human1name , alternate_id
151778096CV1337050single nucleotide variantNM_000626.4(CD79B):c.389C>T (p.Ser130Leu)Agammaglobulinemia 6, autosomal recessive [RCV002025995]|not specified [RCV004603138]likely benign|uncertain significance176393011563930115Human1name , alternate_id
151856680CV1372722single nucleotide variantNM_001783.4(CD79A):c.395C>T (p.Pro132Leu)Agammaglobulinemia 3, autosomal recessive [RCV002033859]uncertain significance194187955041879550Human1name , alternate_id
8687139CV137572single nucleotide variantNM_001783.4(CD79A):c.320G>A (p.Arg107Gln)Agammaglobulinemia 3, autosomal recessive [RCV001854604]|not specified [RCV000120485]uncertain significance|not provided194187923041879230Human1name , alternate_id
8687140CV137573single nucleotide variantNM_001783.4(CD79A):c.371G>A (p.Arg124His)Agammaglobulinemia 3, autosomal recessive [RCV000704625]|not provided [RCV002288609]|not specified [RCV000120486]uncertain significance|not provided194187928141879281Human1name , alternate_id
8687141CV137574single nucleotide variantNM_001783.4(CD79A):c.419C>A (p.Thr140Asn)Agammaglobulinemia 3, autosomal recessive [RCV000576287]|not provided [RCV001528854]|not specified [RCV000120487]likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided194187957441879574Human1name , alternate_id
8687142CV137575single nucleotide variantNM_001783.4(CD79A):c.643A>G (p.Ser215Gly)Agammaglobulinemia 3, autosomal recessive [RCV001854605]|not specified [RCV000120488]uncertain significance|not provided194188094241880942Human1name , alternate_id
8687143CV137576single nucleotide variantNM_001783.4(CD79A):c.593T>C (p.Met198Thr)Agammaglobulinemia 3, autosomal recessive [RCV000648340]|not specified [RCV000120489]uncertain significance|not provided194188089241880892Human1name , alternate_id
8687146CV137579single nucleotide variantNM_000626.4(CD79B):c.497C>T (p.Thr166Met)Agammaglobulinemia 6, autosomal recessive [RCV001854606]|not specified [RCV000120492]uncertain significance|not provided176392982263929822Human1name , alternate_id
151801209CV1378737single nucleotide variantNM_001783.4(CD79A):c.466G>A (p.Ala156Thr)Agammaglobulinemia 3, autosomal recessive [RCV001877389]uncertain significance194187962141879621Human1name , alternate_id
151777538CV1381975single nucleotide variantNM_001783.4(CD79A):c.610C>G (p.Arg204Gly)Agammaglobulinemia 3, autosomal recessive [RCV001950752]uncertain significance194188090941880909Human1name , alternate_id
151751281CV1385321single nucleotide variantNM_001783.4(CD79A):c.310T>C (p.Tyr104His)Agammaglobulinemia 3, autosomal recessive [RCV001969212]uncertain significance194187922041879220Human1name , alternate_id
151799621CV1403904single nucleotide variantNM_001783.4(CD79A):c.498G>C (p.Arg166Ser)Agammaglobulinemia 3, autosomal recessive [RCV001973786]uncertain significance194187965341879653Human1name , alternate_id
151853267CV1406928single nucleotide variantNM_001783.4(CD79A):c.611G>A (p.Arg204Gln)Agammaglobulinemia 3, autosomal recessive [RCV002033452]|not specified [RCV004045216]uncertain significance194188091041880910Human1name , alternate_id
151667487CV1414410single nucleotide variantNM_001783.4(CD79A):c.469G>A (p.Val157Met)Agammaglobulinemia 3, autosomal recessive [RCV001870604]uncertain significance194187962441879624Human1name , alternate_id
151832995CV1456131single nucleotide variantNM_001783.4(CD79A):c.650A>T (p.Asn217Ile)Agammaglobulinemia 3, autosomal recessive [RCV002050907]uncertain significance194188094941880949Human1name , alternate_id
151795821CV1471101single nucleotide variantNM_000626.4(CD79B):c.379A>G (p.Asn127Asp)Agammaglobulinemia 6, autosomal recessive [RCV001952470]uncertain significance176393012563930125Human1name , alternate_id
151777733CV1472211single nucleotide variantNM_000626.4(CD79B):c.329A>G (p.Gln110Arg)Agammaglobulinemia 6, autosomal recessive [RCV002045844]uncertain significance176393017563930175Human1name , alternate_id
151866288CV1472446single nucleotide variantNM_000626.4(CD79B):c.467C>T (p.Thr156Met)Agammaglobulinemia 6, autosomal recessive [RCV002018386]uncertain significance176392985263929852Human1name , alternate_id
151783603CV1474455single nucleotide variantNM_000626.4(CD79B):c.304G>A (p.Glu102Lys)Agammaglobulinemia 6, autosomal recessive [RCV001930669]uncertain significance176393020063930200Human1name , alternate_id
151807703CV1483382single nucleotide variantNM_000626.4(CD79B):c.679G>A (p.Gly227Ser)Agammaglobulinemia 6, autosomal recessive [RCV001918303]uncertain significance176392923763929237Human1name , alternate_id
151819676CV1488378single nucleotide variantNM_001783.4(CD79A):c.358G>A (p.Gly120Ser)Agammaglobulinemia 3, autosomal recessive [RCV001975606]uncertain significance194187926841879268Human1name , alternate_id
151708893CV1495231single nucleotide variantNM_000626.4(CD79B):c.552T>A (p.Asp184Glu)Agammaglobulinemia 6, autosomal recessive [RCV002001547]uncertain significance176392947363929473Human1name , alternate_id
151745173CV1507591single nucleotide variantNM_000626.4(CD79B):c.664G>A (p.Val222Ile)Agammaglobulinemia 6, autosomal recessive [RCV001985650]uncertain significance176392925263929252Human1name , alternate_id
156376026CV1868815single nucleotide variantNM_000626.4(CD79B):c.362T>G (p.Phe121Cys)Agammaglobulinemia 6, autosomal recessive [RCV003066733]uncertain significance176393014263930142Human1name , alternate_id
156403823CV1871917single nucleotide variantNM_000626.4(CD79B):c.429G>A (p.Met143Ile)Agammaglobulinemia 6, autosomal recessive [RCV003052693]uncertain significance176393007563930075Human1name , alternate_id
156034857CV1890085single nucleotide variantNM_001783.4(CD79A):c.394C>A (p.Pro132Thr)Agammaglobulinemia 3, autosomal recessive [RCV003078272]uncertain significance194187954941879549Human1name , alternate_id
156359418CV1908312single nucleotide variantNM_001783.4(CD79A):c.428G>A (p.Arg143Gln)Agammaglobulinemia 3, autosomal recessive [RCV002602391]uncertain significance194187958341879583Human1name , alternate_id
156193638CV1994784single nucleotide variantNM_001783.4(CD79A):c.416G>A (p.Gly139Asp)Agammaglobulinemia 3, autosomal recessive [RCV002643390]uncertain significance194187957141879571Human1name , alternate_id
156011644CV2011511single nucleotide variantNM_001783.4(CD79A):c.335A>G (p.Asn112Ser)Agammaglobulinemia 3, autosomal recessive [RCV002690546]uncertain significance194187924541879245Human1name , alternate_id
155903402CV2031246single nucleotide variantNM_000626.4(CD79B):c.299A>G (p.Gln100Arg)Agammaglobulinemia 6, autosomal recessive [RCV002726323]uncertain significance176393020563930205Human1name , alternate_id
156024155CV2043364single nucleotide variantNM_001783.4(CD79A):c.664C>T (p.Gln222Ter)Agammaglobulinemia 3, autosomal recessive [RCV002780806]uncertain significance194188096341880963Human1name , alternate_id
156273068CV2046217single nucleotide variantNM_000626.4(CD79B):c.571G>C (p.Glu191Gln)Agammaglobulinemia 6, autosomal recessive [RCV002770113]uncertain significance176392945463929454Human1name , alternate_id
156293608CV2047351single nucleotide variantNM_000626.4(CD79B):c.641G>A (p.Arg214Gln)Agammaglobulinemia 6, autosomal recessive [RCV002770872]uncertain significance176392927563929275Human1name , alternate_id
156165147CV2137079single nucleotide variantNM_001783.4(CD79A):c.493T>C (p.Phe165Leu)Agammaglobulinemia 3, autosomal recessive [RCV003005210]uncertain significance194187964841879648Human1name , alternate_id
155911138CV2153196single nucleotide variantNM_000626.4(CD79B):c.584C>G (p.Thr195Ser)Agammaglobulinemia 6, autosomal recessive [RCV003012260]uncertain significance176392944163929441Human1name , alternate_id
156316233CV2169144single nucleotide variantNM_001783.4(CD79A):c.514G>A (p.Glu172Lys)Agammaglobulinemia 3, autosomal recessive [RCV003028877]uncertain significance194188068541880685Human1name , alternate_id
156338323CV2178381single nucleotide variantNM_001783.4(CD79A):c.338A>G (p.Glu113Gly)Agammaglobulinemia 3, autosomal recessive [RCV003047602]uncertain significance194187924841879248Human1name , alternate_id
155990823CV2276513single nucleotide variantNM_000626.4(CD79B):c.664G>C (p.Val222Leu)not specified [RCV004144226]uncertain significance176392925263929252Humanname
156257578CV2322075single nucleotide variantNM_001783.4(CD79A):c.613G>A (p.Gly205Ser)not specified [RCV004173818]uncertain significance194188091241880912Humanname
329369467CV2461122single nucleotide variantNM_000626.4(CD79B):c.317C>T (p.Thr106Ile)not specified [RCV004265545]uncertain significance176393018763930187Humanname
401751097CV2738931single nucleotide variantNM_000626.4(CD79B):c.586T>C (p.Tyr196His)Malignant lymphoma, large B-cell, diffuse [RCV003318324]likely pathogenic176392943963929439Human1name
401893143CV2755875single nucleotide variantNM_001782.3(CD72):c.1009C>G (p.Leu337Val)not specified [RCV004335968]uncertain significance93561069535610695Humanname
401883247CV2785605single nucleotide variantNM_000626.4(CD79B):c.484A>G (p.Ile162Val)not specified [RCV004363112]uncertain significance176392983563929835Humanname
401894584CV2788125single nucleotide variantNM_001783.4(CD79A):c.641G>C (p.Gly214Ala)not specified [RCV004352747]uncertain significance194188094041880940Humanname
405031508CV2915232single nucleotide variantNM_001783.4(CD79A):c.503G>A (p.Arg168Gln)Agammaglobulinemia 3, autosomal recessive [RCV003516875]uncertain significance194188067441880674Human1name , alternate_id
8599965CV29841single nucleotide variantNM_000626.4(CD79B):c.409G>A (p.Gly137Ser)Agammaglobulinemia 6, autosomal recessive [RCV000015925]pathogenic176393009563930095Human1name , alternate_id
405068874CV3081533single nucleotide variantNM_001783.4(CD79A):c.576C>A (p.Asn192Lys)Agammaglobulinemia 3, autosomal recessive [RCV003632978]uncertain significance194188087541880875Human1name , alternate_id
405772561CV3299871single nucleotide variantNM_000626.4(CD79B):c.589G>C (p.Glu197Gln)not specified [RCV004435543]uncertain significance176392943663929436Humanname
407498844CV3425010single nucleotide variantNM_001782.3(CD72):c.1075G>C (p.Asp359His)not specified [RCV004606591]uncertain significance93561062935610629Humanname
597738868CV3648497single nucleotide variantNM_001025159.3(CD74):c.29G>A (p.Arg10Gln)not specified [RCV004890208]likely benign5150412721150412721Humanname
597876938CV3860194single nucleotide variantNM_000626.4(CD79B):c.562G>C (p.Ala188Pro)Agammaglobulinemia 6, autosomal recessive [RCV005198403]uncertain significance176392946363929463Human1name , alternate_id
13436105CV433403single nucleotide variantNM_001783.4(CD79A):c.452T>C (p.Ile151Thr)Agammaglobulinemia 3, autosomal recessive [RCV001065347]|not specified [RCV000506577]uncertain significance194187960741879607Human1name , alternate_id
13488534CV446138single nucleotide variantNM_001783.4(CD79A):c.370C>T (p.Arg124Cys)Agammaglobulinemia 3, autosomal recessive [RCV000817060]|not provided [RCV000523593]uncertain significance194187928041879280Human1name , alternate_id
13820933CV569477single nucleotide variantNM_000626.4(CD79B):c.422G>A (p.Arg141Gln)Agammaglobulinemia 6, autosomal recessive [RCV000695201]uncertain significance176393008263930082Human1name , alternate_id
13806772CV570810single nucleotide variantNM_001783.4(CD79A):c.502C>G (p.Arg168Gly)Agammaglobulinemia 3, autosomal recessive [RCV000700732]uncertain significance194188067341880673Human1name , alternate_id
13804254CV572001single nucleotide variantNM_000626.4(CD79B):c.323C>T (p.Thr108Ile)Agammaglobulinemia 6, autosomal recessive [RCV000685183]uncertain significance176393018163930181Human1name , alternate_id
13827605CV578566single nucleotide variantNM_001783.4(CD79A):c.419C>T (p.Thr140Ile)Agammaglobulinemia 3, autosomal recessive [RCV001862005]|Autosomal recessive agammaglobulinemia 1 [RCV000714760]uncertain significance194187957441879574Human2name , alternate_id
14720879CV646384single nucleotide variantNM_000626.4(CD79B):c.635C>T (p.Thr212Met)Agammaglobulinemia 6, autosomal recessive [RCV000796857]uncertain significance176392928163929281Human1name , alternate_id
14723377CV646386single nucleotide variantNM_000626.4(CD79B):c.338G>A (p.Arg113Gln)Agammaglobulinemia 6, autosomal recessive [RCV000797927]|not specified [RCV004027938]likely benign|uncertain significance176393016663930166Human1name , alternate_id
15136850CV757052single nucleotide variantNM_001783.4(CD79A):c.301G>A (p.Gly101Arg)Agammaglobulinemia 3, autosomal recessive [RCV001419356]likely benign194187921141879211Human1name , alternate_id
25327502CV815938single nucleotide variantNM_001783.4(CD79A):c.323T>G (p.Val108Gly)Inherited Immunodeficiency Diseases [RCV001027560]pathogenic194187923341879233Human1name
26909066CV845847single nucleotide variantNM_000626.4(CD79B):c.547A>G (p.Lys183Glu)Agammaglobulinemia 6, autosomal recessive [RCV001038438]uncertain significance176392977263929772Human1name , alternate_id
26887149CV847734single nucleotide variantNM_001783.4(CD79A):c.309A>G (p.Ile103Met)Agammaglobulinemia 3, autosomal recessive [RCV001044692]|not specified [RCV004887664]likely benign|uncertain significance194187921941879219Human1name , alternate_id
26919421CV847735single nucleotide variantNM_001783.4(CD79A):c.313G>A (p.Val105Met)Agammaglobulinemia 3, autosomal recessive [RCV001058956]|not specified [RCV004031858]uncertain significance194187922341879223Human1name , alternate_id
26902015CV847736single nucleotide variantNM_001783.4(CD79A):c.442G>A (p.Glu148Lys)Agammaglobulinemia 3, autosomal recessive [RCV001035847]uncertain significance194187959741879597Human1name , alternate_id
26901770CV847737single nucleotide variantNM_001783.4(CD79A):c.535G>A (p.Gly179Arg)Agammaglobulinemia 3, autosomal recessive [RCV001035760]uncertain significance194188070641880706Human1name , alternate_id
26887426CV847738single nucleotide variantNM_001783.4(CD79A):c.677C>A (p.Pro226Gln)Agammaglobulinemia 3, autosomal recessive [RCV001066667]uncertain significance194188097641880976Human1name , alternate_id
38477933CV928438single nucleotide variantNM_000626.4(CD79B):c.557G>A (p.Ser186Asn)Agammaglobulinemia 6, autosomal recessive [RCV001216378]uncertain significance176392946863929468Human1name , alternate_id
38482004CV938705single nucleotide variantNM_001783.4(CD79A):c.341C>T (p.Ser114Leu)Agammaglobulinemia 3, autosomal recessive [RCV001207083]uncertain significance194187925141879251Human1name , alternate_id
38467540CV938706single nucleotide variantNM_001783.4(CD79A):c.467C>T (p.Ala156Val)Agammaglobulinemia 3, autosomal recessive [RCV001212967]uncertain significance194187962241879622Human1name , alternate_id
38498419CV950134single nucleotide variantNM_000626.4(CD79B):c.646G>C (p.Gly216Arg)Agammaglobulinemia 6, autosomal recessive [RCV001227745]|not specified [RCV004032613]uncertain significance176392927063929270Human1name , alternate_id
38496348CV950808single nucleotide variantNM_001783.4(CD79A):c.583G>A (p.Asp195Asn)Agammaglobulinemia 3, autosomal recessive [RCV001226334]uncertain significance194188088241880882Human1name , alternate_id
126766256CV997776single nucleotide variantNM_000626.4(CD79B):c.341T>G (p.Phe114Cys)Agammaglobulinemia 6, autosomal recessive [RCV001301812]uncertain significance176393016363930163Human1name , alternate_id
126765036CV1033511microsatelliteNM_000626.4(CD79B):c.93GGA[1] (p.Glu32del)Agammaglobulinemia 6, autosomal recessive [RCV001341880]uncertain significance176393135563931357Humanname , alternate_id
156000135CV2396536single nucleotide variantNM_001025159.3(CD74):c.103C>G (p.Arg35Gly)not specified [RCV004242243]uncertain significance5150412647150412647Humanname
401783503CV2723642single nucleotide variantNM_001025159.3(CD74):c.187G>A (p.Gly63Ser)not specified [RCV004325820]uncertain significance5150407263150407263Humanname
405772543CV3299868single nucleotide variantNM_001025159.3(CD74):c.119C>T (p.Pro40Leu)not specified [RCV004435540]uncertain significance5150412631150412631Humanname
405772549CV3299869single nucleotide variantNM_001025159.3(CD74):c.137G>A (p.Arg46His)not specified [RCV004435541]uncertain significance5150407313150407313Humanname
597778726CV3648493single nucleotide variantNM_001025159.3(CD74):c.229C>T (p.Arg77Trp)not specified [RCV004899095]uncertain significance5150407221150407221Humanname
156128357CV2223914single nucleotide variantNM_001025159.3(CD74):c.841T>C (p.Ser281Pro)not specified [RCV004093909]uncertain significance5150402602150402602Humanname
156290134CV2324878single nucleotide variantNM_001025159.3(CD74):c.620C>T (p.Pro207Leu)not specified [RCV004175147]uncertain significance5150404685150404685Humanname
156069313CV2355792single nucleotide variantNM_001025159.3(CD74):c.631A>C (p.Thr211Pro)not specified [RCV004201195]uncertain significance5150403307150403307Humanname
407498841CV3425011single nucleotide variantNM_001025159.3(CD74):c.374A>G (p.Gln125Arg)not specified [RCV004606592]uncertain significance5150406885150406885Humanname
407498838CV3425012single nucleotide variantNM_001025159.3(CD74):c.845C>A (p.Ser282Tyr)not specified [RCV004606593]uncertain significance5150402598150402598Humanname
597778728CV3648494single nucleotide variantNM_001025159.3(CD74):c.674C>T (p.Pro225Leu)not specified [RCV004899096]uncertain significance5150403264150403264Humanname
597778734CV3648495single nucleotide variantNM_001025159.3(CD74):c.325A>C (p.Met109Leu)not specified [RCV004899097]uncertain significance5150406934150406934Humanname
597738863CV3648496single nucleotide variantNM_001025159.3(CD74):c.323G>A (p.Arg108His)not specified [RCV004890207]uncertain significance5150406936150406936Humanname
597778738CV3648498single nucleotide variantNM_001025159.3(CD74):c.310G>C (p.Val104Leu)not specified [RCV004899098]likely benign5150406949150406949Humanname
14350129CV590636microsatelliteNM_001252.5(CD70):c.552CTT[1] (p.Phe186del)Severe combined immunodeficiency due to CD70 deficiency [RCV000735977]pathogenic1965860456586047Humanname , trait
405050329CV1033509deletionNM_000626.4(CD79B):c.364_366del (p.Cys122del)Agammaglobulinemia 6, autosomal recessive [RCV003518856]uncertain significance176393013863930140Human1name , alternate_id
126736269CV1020299single nucleotide variantNM_002526.4(NT5E):c.1055C>A (p.Ser352Ter)Calcification of joints and arteries [RCV001335042]pathogenic68548744085487440Humanalternate_id
150335139CV1164296single nucleotide variantNM_002526.4(NT5E):c.1126A>G (p.Thr376Ala)Hereditary arterial and articular multiple calcification syndrome [RCV001788579]|not specified [RCV001530115]benign68548951585489515Human1alternate_id
150332512CV1164297single nucleotide variantNM_002526.4(NT5E):c.1210+12G>CHereditary arterial and articular multiple calcification syndrome [RCV001788577]|not specified [RCV001528336]benign68548961185489611Human1alternate_id
404977521CV2850663single nucleotide variantNM_002526.4(NT5E):c.965C>T (p.Ala322Val)Hereditary arterial and articular multiple calcification syndrome [RCV003486176]uncertain significance68548735085487350Human1alternate_id
8601991CV38642single nucleotide variantNM_002526.4(NT5E):c.662C>A (p.Ser221Ter)Hereditary arterial and articular multiple calcification syndrome [RCV000022533]pathogenic68547133685471336Human1alternate_id
8601992CV38643single nucleotide variantNM_002526.4(NT5E):c.1073G>A (p.Cys358Tyr)Hereditary arterial and articular multiple calcification syndrome [RCV000022534]pathogenic68548745885487458Human1alternate_id
8567851CV38644duplicationNM_002526.4(NT5E):c.1608dup (p.Val537fs)Hereditary arterial and articular multiple calcification syndrome [RCV000022535]|NT5E-related disorder [RCV004549385]pathogenic|likely pathogenic68549388485493885Human1alternate_id
15130321CV710630single nucleotide variantNM_002526.4(NT5E):c.832G>A (p.Val278Ile)Hereditary arterial and articular multiple calcification syndrome [RCV003132129]|NT5E-related disorder [RCV004553455]|not provided [RCV000964415]likely benign|uncertain significance68548531585485315Human1alternate_id
151855474CV1473842indelNM_000626.4(CD79B):c.563_564delinsGG (p.Ala188Gly)Agammaglobulinemia 6, autosomal recessive [RCV001904633]uncertain significance176392946163929462Humanname , alternate_id
155692984CV1775277indelNM_001783.4(CD79A):c.466_467delinsTT (p.Ala156Leu)Agammaglobulinemia 3, autosomal recessive [RCV002299415]uncertain significance194187962141879622Humanname , alternate_id
156109188CV1996902indelNM_001783.4(CD79A):c.463_464delinsCT (p.Cys155Leu)Agammaglobulinemia 3, autosomal recessive [RCV002662420]uncertain significance194187961841879619Humanname , alternate_id
14732981CV646385indelNM_000626.4(CD79B):c.362_366delinsGC (p.Phe121del)Agammaglobulinemia 6, autosomal recessive [RCV000818520]uncertain significance176393013863930142Humanname , alternate_id
156437925CV1939394duplicationNC_000019.9:g.(?_42363988)_(42385047_?)dupAgammaglobulinemia 3, autosomal recessive [RCV003107468]uncertain significanceHuman1alternate_id
156132307CV2182218deletionNC_000019.10:g.41878996_41879009delAgammaglobulinemia 3, autosomal recessive [RCV003055884]pathogenic194187898741879000Human1alternate_id