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Pathways
Variants search result for Homo sapiens
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165 records found for search term Cd79a
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405282617CV3220627single nucleotide variantNM_001783.4(CD79A):c.*4C>TCD79A-related disorder [RCV003978943]likely benign194188098441880984Humanname , trait , 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
597916614CV3811003single nucleotide variantNM_001783.4(CD79A):c.80-8C>GAgammaglobulinemia 3, autosomal recessive [RCV005155038]likely benign194187898241878982Human1name , alternate_id
126743294CV998622single nucleotide variantNM_001783.4(CD79A):c.80-3C>TAgammaglobulinemia 3, autosomal recessive [RCV001296170]uncertain significance194187898741878987Human1name , alternate_id
151817475CV1441172single nucleotide variantNM_001783.4(CD79A):c.79+14G>AAgammaglobulinemia 3, autosomal recessive [RCV001933816]likely benign|uncertain significance194187739741877397Human1name , 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
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
405065093CV3036819single nucleotide variantNM_001783.4(CD79A):c.499-8C>TAgammaglobulinemia 3, autosomal recessive [RCV003632382]likely benign194188066241880662Human1name , 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
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
597936147CV3845380single nucleotide variantNM_001783.4(CD79A):c.79+15G>AAgammaglobulinemia 3, autosomal recessive [RCV005186693]likely benign194187739841877398Human1name , alternate_id
150484471CV1222502single nucleotide variantNM_001783.4(CD79A):c.80-303G>Anot provided [RCV001617505]benign194187868741878687Humanname
151814940CV1507470single nucleotide variantNM_001783.4(CD79A):c.499-17C>TAgammaglobulinemia 3, autosomal recessive [RCV001954188]likely benign194188065341880653Human1name , alternate_id
152171337CV1544102single nucleotide variantNM_001783.4(CD79A):c.498+10C>AAgammaglobulinemia 3, autosomal recessive [RCV002162076]likely benign194187966341879663Human1name , alternate_id
152083273CV1554688single nucleotide variantNM_001783.4(CD79A):c.567+12G>AAgammaglobulinemia 3, autosomal recessive [RCV002211698]likely benign194188075041880750Human1name , alternate_id
152107705CV1624090single nucleotide variantNM_001783.4(CD79A):c.498+12C>TAgammaglobulinemia 3, autosomal recessive [RCV002134074]likely benign194187966541879665Human1name , 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
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
405042151CV2870458duplicationNM_001783.4(CD79A):c.379+23dupAgammaglobulinemia 3, autosomal recessive [RCV003518097]benign194187930841879309Human1name , 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
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
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
597973663CV3801484single nucleotide variantNM_001783.4(CD79A):c.380-13T>CAgammaglobulinemia 3, autosomal recessive [RCV005143473]likely benign194187952241879522Human1name , 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
150490563CV1267634microsatelliteNM_001783.4(CD79A):c.499-218GGAA[14]not provided [RCV001687658]benign194188045141880452Humanname
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
13506508CV468842single nucleotide variantNM_001783.4(CD79A):c.21C>T (p.Val7=)Agammaglobulinemia 3, autosomal recessive [RCV000576174]likely benign194187732541877325Human1name , 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
152032078CV1624680single nucleotide variantNM_001783.4(CD79A):c.54C>A (p.Leu18=)Agammaglobulinemia 3, autosomal recessive [RCV002186826]likely benign194187735841877358Human1name , alternate_id
156384903CV2001733single nucleotide variantNM_001783.4(CD79A):c.51C>A (p.Leu17=)Agammaglobulinemia 3, autosomal recessive [RCV002653921]likely benign194187735541877355Human1name , 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
15179710CV716471single nucleotide variantNM_001783.4(CD79A):c.61C>T (p.Leu21=)Agammaglobulinemia 3, autosomal recessive [RCV001480000]likely benign194187736541877365Human1name , 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
127318738CV1127921single nucleotide variantNM_001783.4(CD79A):c.165G>A (p.Pro55=)Agammaglobulinemia 3, autosomal recessive [RCV001466341]likely benign194187907541879075Human1name , alternate_id
127315043CV1148891single nucleotide variantNM_001783.4(CD79A):c.210C>A (p.Leu70=)Agammaglobulinemia 3, autosomal recessive [RCV001502616]likely benign194187912041879120Human1name , alternate_id
152045304CV1590679single nucleotide variantNM_001783.4(CD79A):c.204C>T (p.Arg68=)Agammaglobulinemia 3, autosomal recessive [RCV002108275]likely benign194187911441879114Human1name , 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
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
405038784CV2929579single nucleotide variantNM_001783.4(CD79A):c.120A>C (p.Ala40=)Agammaglobulinemia 3, autosomal recessive [RCV003517757]likely benign194187903041879030Human1name , alternate_id
597877512CV3776029single nucleotide variantNM_001783.4(CD79A):c.159A>G (p.Gln53=)Agammaglobulinemia 3, autosomal recessive [RCV005123556]likely benign194187906941879069Human1name , alternate_id
15115723CV786207single nucleotide variantNM_001783.4(CD79A):c.147C>T (p.Asp49=)Agammaglobulinemia 3, autosomal recessive [RCV002066473]likely benign194187905741879057Human1name , alternate_id
127232742CV1084777single nucleotide variantNM_001783.4(CD79A):c.465C>T (p.Cys155=)Agammaglobulinemia 3, autosomal recessive [RCV001413598]likely benign194187962041879620Human1name , 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
127298996CV1148892single nucleotide variantNM_001783.4(CD79A):c.327G>A (p.Gln109=)Agammaglobulinemia 3, autosomal recessive [RCV001498200]likely benign194187923741879237Human1name , alternate_id
150442524CV1287738duplicationNM_001783.4(CD79A):c.499-212_499-210dupnot provided [RCV001725459]benign194188045641880457Humanname
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
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
151780812CV1458194single nucleotide variantNM_001783.4(CD79A):c.309A>C (p.Ile103=)Agammaglobulinemia 3, autosomal recessive [RCV001951056]likely benign194187921941879219Human1name , alternate_id
152116959CV1555995single nucleotide variantNM_001783.4(CD79A):c.453C>T (p.Ile151=)Agammaglobulinemia 3, autosomal recessive [RCV002216268]likely benign194187960841879608Human1name , 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
152171501CV1628353single nucleotide variantNM_001783.4(CD79A):c.387C>T (p.Pro129=)Agammaglobulinemia 3, autosomal recessive [RCV002183520]likely benign194187954241879542Human1name , alternate_id
152039685CV1649049single nucleotide variantNM_001783.4(CD79A):c.483G>A (p.Thr161=)Agammaglobulinemia 3, autosomal recessive [RCV002206156]likely benign194187963841879638Human1name , alternate_id
156311259CV2000097single nucleotide variantNM_001783.4(CD79A):c.384G>A (p.Pro128=)Agammaglobulinemia 3, autosomal recessive [RCV002671649]likely benign194187953941879539Human1name , alternate_id
156242790CV2043870single nucleotide variantNM_001783.4(CD79A):c.357C>T (p.Cys119=)Agammaglobulinemia 3, autosomal recessive [RCV002805736]likely benign194187926741879267Human1name , alternate_id
156133922CV2097255single nucleotide variantNM_001783.4(CD79A):c.427C>A (p.Arg143=)Agammaglobulinemia 3, autosomal recessive [RCV002890052]likely benign194187958241879582Human1name , alternate_id
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
405176393CV3152340single nucleotide variantNM_001783.4(CD79A):c.525G>T (p.Gly175=)Agammaglobulinemia 3, autosomal recessive [RCV003858295]likely benign194188069641880696Human1name , alternate_id
597955577CV3754436single nucleotide variantNM_001783.4(CD79A):c.490C>T (p.Leu164=)Agammaglobulinemia 3, autosomal recessive [RCV005080286]likely benign194187964541879645Human1name , alternate_id
13506541CV470263single nucleotide variantNM_001783.4(CD79A):c.534C>T (p.Ala178=)Agammaglobulinemia 3, autosomal recessive [RCV000576241]likely benign194188070541880705Human1name , alternate_id
14742046CV648144single nucleotide variantNM_001783.4(CD79A):c.64T>A (p.Ser22Thr)Agammaglobulinemia 3, autosomal recessive [RCV000822533]uncertain significance194187736841877368Human1name , 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
15127231CV757053single nucleotide variantNM_001783.4(CD79A):c.459G>A (p.Leu153=)not provided [RCV000919460]likely benign194187961441879614Humanname
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
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
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
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
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
156116346CV1993958single nucleotide variantNM_001783.4(CD79A):c.188A>T (p.Asn63Ile)Agammaglobulinemia 3, autosomal recessive [RCV002662680]uncertain significance194187909841879098Human1name , alternate_id
156335759CV2109277single nucleotide variantNM_001783.4(CD79A):c.253G>A (p.Glu85Lys)Agammaglobulinemia 3, autosomal recessive [RCV002938625]uncertain significance194187916341879163Human1name , alternate_id
156298436CV2159427single nucleotide variantNM_001783.4(CD79A):c.242T>C (p.Leu81Ser)Agammaglobulinemia 3, autosomal recessive [RCV003045436]uncertain significance194187915241879152Human1name , alternate_id
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
14730563CV648145single nucleotide variantNM_001783.4(CD79A):c.188A>G (p.Asn63Ser)Agammaglobulinemia 3, autosomal recessive [RCV000801006]|not specified [RCV004887660]uncertain significance194187909841879098Human1name , 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
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
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
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
151819676CV1488378single nucleotide variantNM_001783.4(CD79A):c.358G>A (p.Gly120Ser)Agammaglobulinemia 3, autosomal recessive [RCV001975606]uncertain significance194187926841879268Human1name , 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
156024155CV2043364single nucleotide variantNM_001783.4(CD79A):c.664C>T (p.Gln222Ter)Agammaglobulinemia 3, autosomal recessive [RCV002780806]uncertain significance194188096341880963Human1name , alternate_id
156165147CV2137079single nucleotide variantNM_001783.4(CD79A):c.493T>C (p.Phe165Leu)Agammaglobulinemia 3, autosomal recessive [RCV003005210]uncertain significance194187964841879648Human1name , 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
156257578CV2322075single nucleotide variantNM_001783.4(CD79A):c.613G>A (p.Gly205Ser)not specified [RCV004173818]uncertain significance194188091241880912Humanname
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
405068874CV3081533single nucleotide variantNM_001783.4(CD79A):c.576C>A (p.Asn192Lys)Agammaglobulinemia 3, autosomal recessive [RCV003632978]uncertain significance194188087541880875Human1name , 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
13806772CV570810single nucleotide variantNM_001783.4(CD79A):c.502C>G (p.Arg168Gly)Agammaglobulinemia 3, autosomal recessive [RCV000700732]uncertain significance194188067341880673Human1name , 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
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
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
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
38496348CV950808single nucleotide variantNM_001783.4(CD79A):c.583G>A (p.Asp195Asn)Agammaglobulinemia 3, autosomal recessive [RCV001226334]uncertain significance194188088241880882Human1name , alternate_id
156395746CV1980408indelNM_001783.4(CD79A):c.567+20_567+21delinsATAgammaglobulinemia 3, autosomal recessive [RCV002605115]likely benign194188075841880759Humanname , 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
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