Blnk Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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366 records found for search term Blnk

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
152107294	CV1581862	single nucleotide variant	NM_013314.4(BLNK):c.48-5T>C	Agammaglobulinemia 4, autosomal recessive [RCV002079778]	likely benign	10	96247054	96247054	Human	1	name , alternate_id
155971553	CV1889536	duplication	NM_013314.4(BLNK):c.48-5dup	Agammaglobulinemia 4, autosomal recessive [RCV003075203]	benign	10	96247053	96247054	Human	1	name , alternate_id
8558746	CV20546	single nucleotide variant	NM_013314.4(BLNK):c.47+3A>T	Agammaglobulinemia 4, autosomal recessive [RCV000005842]	pathogenic	10	96271349	96271349	Human	1	name , alternate_id
156237971	CV2081928	single nucleotide variant	NM_013314.4(BLNK):c.48-9T>A	Agammaglobulinemia 4, autosomal recessive [RCV002876490]	likely benign	10	96247058	96247058	Human	1	name , alternate_id
405107282	CV3010972	single nucleotide variant	NM_013314.4(BLNK):c.48-9T>C	Agammaglobulinemia 4, autosomal recessive [RCV003614805]	likely benign	10	96247058	96247058	Human	1	name , alternate_id
127230873	CV1077669	single nucleotide variant	NM_013314.4(BLNK):c.902+9C>G	Agammaglobulinemia 4, autosomal recessive [RCV001394989]	likely benign	10	96204523	96204523	Human	1	name , alternate_id
127244413	CV1077672	single nucleotide variant	NM_013314.4(BLNK):c.677-6G>A	Agammaglobulinemia 4, autosomal recessive [RCV001393706]	likely benign	10	96209913	96209913	Human	1	name , alternate_id
127290797	CV1120874	duplication	NM_013314.4(BLNK):c.817+3dup	Agammaglobulinemia 4, autosomal recessive [RCV001458532]	likely benign	10	96207004	96207005	Human	1	name , alternate_id
150407929	CV1182425	single nucleotide variant	NM_013314.4(BLNK):c.48-52T>A	Agammaglobulinemia 4, autosomal recessive [RCV001554234]\|not provided [RCV001655894]\|not specified [RCV003487481]	benign	10	96247101	96247101	Human	1	name , alternate_id
151874837	CV1374271	single nucleotide variant	NM_013314.4(BLNK):c.935-3C>T	Agammaglobulinemia 4, autosomal recessive [RCV001940262]	uncertain significance	10	96201061	96201061	Human	1	name , alternate_id
151738727	CV1428851	single nucleotide variant	NM_013314.4(BLNK):c.677-3C>T	Agammaglobulinemia 4, autosomal recessive [RCV002022107]	uncertain significance	10	96209910	96209910	Human	1	name , alternate_id
151851899	CV1459403	single nucleotide variant	NM_013314.4(BLNK):c.113+2T>G	Agammaglobulinemia 4, autosomal recessive [RCV002033287]	likely pathogenic	10	96246982	96246982	Human	1	name , alternate_id
152090728	CV1525630	single nucleotide variant	NM_013314.4(BLNK):c.205-4G>T	Agammaglobulinemia 4, autosomal recessive [RCV002150554]	likely benign	10	96227570	96227570	Human	1	name , alternate_id
152135825	CV1595039	single nucleotide variant	NM_013314.4(BLNK):c.113+9G>A	Agammaglobulinemia 4, autosomal recessive [RCV002199925]	likely benign	10	96246975	96246975	Human	1	name , alternate_id
152138060	CV1652532	single nucleotide variant	NM_013314.4(BLNK):c.608-7G>A	Agammaglobulinemia 4, autosomal recessive [RCV002083785]\|not provided [RCV004706317]	likely benign	10	96215396	96215396	Human	1	name , alternate_id
156373560	CV1901919	single nucleotide variant	NM_013314.4(BLNK):c.526-7C>T	Agammaglobulinemia 4, autosomal recessive [RCV003092668]	likely benign	10	96216741	96216741	Human	1	name , alternate_id
156143963	CV1954026	single nucleotide variant	NM_013314.4(BLNK):c.526-8T>A	Agammaglobulinemia 4, autosomal recessive [RCV002572672]	likely benign	10	96216742	96216742	Human	1	name , alternate_id
156058878	CV2069134	single nucleotide variant	NM_013314.4(BLNK):c.775-3T>C	Agammaglobulinemia 4, autosomal recessive [RCV002846699]	uncertain significance	10	96207056	96207056	Human	1	name , alternate_id
155964792	CV2085533	single nucleotide variant	NM_013314.4(BLNK):c.48-18T>A	Agammaglobulinemia 4, autosomal recessive [RCV002881198]	likely benign	10	96247067	96247067	Human	1	name , alternate_id
156243605	CV2126195	single nucleotide variant	NM_013314.4(BLNK):c.48-13T>G	Agammaglobulinemia 4, autosomal recessive [RCV002958959]	likely benign	10	96247062	96247062	Human	1	name , alternate_id
156012742	CV2137422	single nucleotide variant	NM_013314.4(BLNK):c.526-5G>A	Agammaglobulinemia 4, autosomal recessive [RCV003017831]	likely benign	10	96216739	96216739	Human	1	name , alternate_id
156207829	CV2160263	single nucleotide variant	NM_013314.4(BLNK):c.934+8C>T	Agammaglobulinemia 4, autosomal recessive [RCV003042218]	likely benign	10	96204049	96204049	Human	1	name , alternate_id
156192037	CV2162152	single nucleotide variant	NM_013314.4(BLNK):c.204+9T>C	Agammaglobulinemia 4, autosomal recessive [RCV003041680]	likely benign	10	96230785	96230785	Human	1	name , alternate_id
156330307	CV2171709	single nucleotide variant	NM_013314.4(BLNK):c.361+9C>G	Agammaglobulinemia 4, autosomal recessive [RCV003029732]	likely benign	10	96227401	96227401	Human	1	name , alternate_id
405089015	CV2968084	single nucleotide variant	NM_013314.4(BLNK):c.903-7C>T	Agammaglobulinemia 4, autosomal recessive [RCV003613578]	likely benign	10	96204095	96204095	Human	1	name , alternate_id
405091014	CV2987461	single nucleotide variant	NM_013314.4(BLNK):c.746+8C>G	Agammaglobulinemia 4, autosomal recessive [RCV003613730]	likely benign	10	96209830	96209830	Human	1	name , alternate_id
405107606	CV3025372	single nucleotide variant	NM_013314.4(BLNK):c.747-2A>G	Agammaglobulinemia 4, autosomal recessive [RCV003614861]	likely pathogenic	10	96207901	96207901	Human	1	name , alternate_id
405107709	CV3029253	single nucleotide variant	NM_013314.4(BLNK):c.676+9T>C	Agammaglobulinemia 4, autosomal recessive [RCV003614887]	likely benign	10	96215312	96215312	Human	1	name , alternate_id
402496914	CV3179275	single nucleotide variant	NM_013314.4(BLNK):c.361+8C>T	Agammaglobulinemia 4, autosomal recessive [RCV003877542]	likely benign	10	96227402	96227402	Human	1	name , alternate_id
597936717	CV3862556	single nucleotide variant	NM_013314.4(BLNK):c.747-5C>T	Agammaglobulinemia 4, autosomal recessive [RCV005207828]	likely benign	10	96207904	96207904	Human	1	name , alternate_id
598123327	CV3884940	single nucleotide variant	NM_013314.4(BLNK):c.902+2T>C	Agammaglobulinemia 4, autosomal recessive [RCV005238549]	likely pathogenic	10	96204530	96204530	Human	1	name , alternate_id
13491997	CV460419	single nucleotide variant	NM_013314.4(BLNK):c.526-5G>C	Agammaglobulinemia 4, autosomal recessive [RCV000557123]\|BLNK-related disorder [RCV003915592]\|not provided [RCV004718733]	benign	10	96216739	96216739	Human	1	name , trait , alternate_id
14742883	CV652169	single nucleotide variant	NM_013314.4(BLNK):c.526-6T>G	Agammaglobulinemia 4, autosomal recessive [RCV000823079]	likely benign\|uncertain significance	10	96216740	96216740	Human	1	name , alternate_id
14722643	CV652356	single nucleotide variant	NM_013314.4(BLNK):c.113+4A>T	Agammaglobulinemia 4, autosomal recessive [RCV000814012]	uncertain significance	10	96246980	96246980	Human	1	name , alternate_id
15185119	CV744661	single nucleotide variant	NM_013314.4(BLNK):c.775-4A>G	Agammaglobulinemia 4, autosomal recessive [RCV002065774]	likely benign	10	96207057	96207057	Human	1	name , alternate_id
15097925	CV760017	single nucleotide variant	NM_013314.4(BLNK):c.607+9T>C	not provided [RCV000914123]	likely benign	10	96216644	96216644	Human		name
15179377	CV779659	single nucleotide variant	NM_013314.4(BLNK):c.164-9C>T	Agammaglobulinemia 4, autosomal recessive [RCV000973892]\|not provided [RCV004718801]	benign	10	96230843	96230843	Human	1	name , alternate_id
38473962	CV940975	single nucleotide variant	NM_013314.4(BLNK):c.817+6A>G	Agammaglobulinemia 4, autosomal recessive [RCV001214544]	uncertain significance	10	96207005	96207005	Human	1	name , alternate_id
38471414	CV960737	single nucleotide variant	NM_013314.4(BLNK):c.607+5G>C	Agammaglobulinemia 4, autosomal recessive [RCV001248645]	uncertain significance	10	96216648	96216648	Human	1	name , alternate_id
38598198	CV964669	single nucleotide variant	NM_013314.4(BLNK):c.746+1G>A	Agammaglobulinemia 4, autosomal recessive [RCV001253462]	likely pathogenic	10	96209837	96209837	Human	1	name , alternate_id
126731361	CV1020778	single nucleotide variant	NM_013314.4(BLNK):c.205-15C>T	Agammaglobulinemia 4, autosomal recessive [RCV001333697]	conflicting interpretations of pathogenicity\|uncertain significance	10	96227581	96227581	Human	1	name , alternate_id
127293673	CV1120877	single nucleotide variant	NM_013314.4(BLNK):c.608-10T>C	Agammaglobulinemia 4, autosomal recessive [RCV001452052]	likely benign	10	96215399	96215399	Human	1	name , alternate_id
150407926	CV1182424	single nucleotide variant	NM_013314.4(BLNK):c.361+71G>A	Agammaglobulinemia 4, autosomal recessive [RCV001554233]\|not provided [RCV001673204]\|not specified [RCV003487480]	benign	10	96227339	96227339	Human	1	name , alternate_id
150499741	CV1224646	single nucleotide variant	NM_013314.4(BLNK):c.525+56G>A	not provided [RCV001620477]\|not specified [RCV003487544]	benign	10	96223770	96223770	Human		name
150460342	CV1231325	single nucleotide variant	NM_013314.4(BLNK):c.677-31T>C	not provided [RCV001640889]\|not specified [RCV003487574]	benign	10	96209938	96209938	Human		name
150442609	CV1249145	single nucleotide variant	NM_013314.4(BLNK):c.361+22G>C	not provided [RCV001666577]\|not specified [RCV003487645]	benign	10	96227388	96227388	Human		name
150493704	CV1267201	single nucleotide variant	NM_013314.4(BLNK):c.205-56C>T	not provided [RCV001688229]\|not specified [RCV003487705]	benign	10	96227622	96227622	Human		name
150460655	CV1270546	single nucleotide variant	NM_013314.4(BLNK):c.902+27G>C	not provided [RCV001693536]	benign	10	96204505	96204505	Human		name
151728592	CV1338934	single nucleotide variant	NM_013314.4(BLNK):c.525+13T>C	Agammaglobulinemia 4, autosomal recessive [RCV002004542]	likely benign	10	96223813	96223813	Human	1	name , alternate_id
152125865	CV1548709	single nucleotide variant	NM_013314.4(BLNK):c.903-11C>A	Agammaglobulinemia 4, autosomal recessive [RCV002082207]	likely benign	10	96204099	96204099	Human	1	name , alternate_id
152127893	CV1554290	single nucleotide variant	NM_013314.4(BLNK):c.903-10T>C	Agammaglobulinemia 4, autosomal recessive [RCV002176407]	likely benign	10	96204098	96204098	Human	1	name , alternate_id
152132193	CV1578483	single nucleotide variant	NM_013314.4(BLNK):c.607+15C>T	Agammaglobulinemia 4, autosomal recessive [RCV002155689]	likely benign	10	96216638	96216638	Human	1	name , alternate_id
152039034	CV1592670	single nucleotide variant	NM_013314.4(BLNK):c.747-17C>G	Agammaglobulinemia 4, autosomal recessive [RCV002187973]	likely benign	10	96207916	96207916	Human	1	name , alternate_id
152121043	CV1613133	single nucleotide variant	NM_013314.4(BLNK):c.934+12G>A	Agammaglobulinemia 4, autosomal recessive [RCV002154259]	likely benign	10	96204045	96204045	Human	1	name , alternate_id
152027213	CV1636114	single nucleotide variant	NM_013314.4(BLNK):c.747-12T>C	Agammaglobulinemia 4, autosomal recessive [RCV002085059]	likely benign	10	96207911	96207911	Human	1	name , alternate_id
152117278	CV1645915	single nucleotide variant	NM_013314.4(BLNK):c.361+15A>G	Agammaglobulinemia 4, autosomal recessive [RCV002175100]	likely benign	10	96227395	96227395	Human	1	name , alternate_id
156299190	CV1890740	single nucleotide variant	NM_013314.4(BLNK):c.677-16G>A	Agammaglobulinemia 4, autosomal recessive [RCV003087840]	likely benign	10	96209923	96209923	Human	1	name , alternate_id
155930967	CV1909074	single nucleotide variant	NM_013314.4(BLNK):c.1252-3T>C	Agammaglobulinemia 4, autosomal recessive [RCV002614991]	uncertain significance	10	96192095	96192095	Human	1	name , alternate_id
156418562	CV1922328	single nucleotide variant	NM_013314.4(BLNK):c.607+13C>T	Agammaglobulinemia 4, autosomal recessive [RCV002611760]	likely benign	10	96216640	96216640	Human	1	name , alternate_id
156419222	CV1922978	single nucleotide variant	NM_013314.4(BLNK):c.775-18T>G	Agammaglobulinemia 4, autosomal recessive [RCV002612442]	likely benign	10	96207071	96207071	Human	1	name , alternate_id
156352853	CV1923705	single nucleotide variant	NM_013314.4(BLNK):c.607+14G>A	Agammaglobulinemia 4, autosomal recessive [RCV002651028]	likely benign	10	96216639	96216639	Human	1	name , alternate_id
156218360	CV1928028	single nucleotide variant	NM_013314.4(BLNK):c.113+10C>T	Agammaglobulinemia 4, autosomal recessive [RCV002644297]	likely benign	10	96246974	96246974	Human	1	name , alternate_id
156328174	CV1956528	single nucleotide variant	NM_013314.4(BLNK):c.677-15T>G	Agammaglobulinemia 4, autosomal recessive [RCV002579842]	likely benign	10	96209922	96209922	Human	1	name , alternate_id
156337515	CV2095985	single nucleotide variant	NM_013314.4(BLNK):c.903-19C>T	Agammaglobulinemia 4, autosomal recessive [RCV002900289]	likely benign	10	96204107	96204107	Human	1	name , alternate_id
155935391	CV2138769	single nucleotide variant	NM_013314.4(BLNK):c.163+18T>C	Agammaglobulinemia 4, autosomal recessive [RCV002993681]	likely benign	10	96242717	96242717	Human	1	name , alternate_id
402479798	CV2882545	single nucleotide variant	NM_013314.4(BLNK):c.677-12A>G	Agammaglobulinemia 4, autosomal recessive [RCV003506335]	likely benign	10	96209919	96209919	Human	1	name , alternate_id
402482882	CV2895922	single nucleotide variant	NM_013314.4(BLNK):c.164-15C>T	Agammaglobulinemia 4, autosomal recessive [RCV003506678]	likely benign	10	96230849	96230849	Human	1	name , alternate_id
402481689	CV2901591	duplication	NM_013314.4(BLNK):c.1096-9dup	Agammaglobulinemia 4, autosomal recessive [RCV003506566]	benign	10	96197071	96197072	Human	1	name , alternate_id
402483087	CV2902897	single nucleotide variant	NM_013314.4(BLNK):c.934+11C>A	Agammaglobulinemia 4, autosomal recessive [RCV003506699]	likely benign	10	96204046	96204046	Human	1	name , alternate_id
405105102	CV2945026	deletion	NM_013314.4(BLNK):c.775-12del	Agammaglobulinemia 4, autosomal recessive [RCV003614312]	benign	10	96207065	96207065	Human	1	name , alternate_id
405105798	CV2958993	single nucleotide variant	NM_013314.4(BLNK):c.114-11G>T	Agammaglobulinemia 4, autosomal recessive [RCV003614464]	likely benign	10	96242795	96242795	Human	1	name , alternate_id
405107171	CV3010436	single nucleotide variant	NM_013314.4(BLNK):c.817+16T>C	Agammaglobulinemia 4, autosomal recessive [RCV003614781]	likely benign	10	96206995	96206995	Human	1	name , alternate_id
405106606	CV3012089	single nucleotide variant	NM_013314.4(BLNK):c.1012-4A>G	Agammaglobulinemia 4, autosomal recessive [RCV003614661]	likely benign	10	96200162	96200162	Human	1	name , alternate_id
405108563	CV3036986	single nucleotide variant	NM_013314.4(BLNK):c.113+14T>C	Agammaglobulinemia 4, autosomal recessive [RCV003615089]	likely benign	10	96246970	96246970	Human	1	name , alternate_id
405108767	CV3050132	single nucleotide variant	NM_013314.4(BLNK):c.204+10T>A	Agammaglobulinemia 4, autosomal recessive [RCV003615132]	likely benign	10	96230784	96230784	Human	1	name , alternate_id
405109232	CV3066768	single nucleotide variant	NM_013314.4(BLNK):c.1096-6A>T	Agammaglobulinemia 4, autosomal recessive [RCV003615229]	likely benign	10	96197069	96197069	Human	1	name , alternate_id
405038308	CV3140900	single nucleotide variant	NM_013314.4(BLNK):c.608-16C>T	Agammaglobulinemia 4, autosomal recessive [RCV003831193]	likely benign	10	96215405	96215405	Human	1	name , alternate_id
405228537	CV3153349	single nucleotide variant	NM_013314.4(BLNK):c.818-12T>A	Agammaglobulinemia 4, autosomal recessive [RCV003848413]	likely benign	10	96204628	96204628	Human	1	name , alternate_id
402468811	CV3174602	single nucleotide variant	NM_013314.4(BLNK):c.902+15C>G	Agammaglobulinemia 4, autosomal recessive [RCV003873712]	likely benign	10	96204517	96204517	Human	1	name , alternate_id
405002577	CV3184145	single nucleotide variant	NM_013314.4(BLNK):c.526-13G>A	Agammaglobulinemia 4, autosomal recessive [RCV003882728]	likely benign	10	96216747	96216747	Human	1	name , alternate_id
597957028	CV3754762	single nucleotide variant	NM_013314.4(BLNK):c.747-11T>C	Agammaglobulinemia 4, autosomal recessive [RCV005080612]	likely benign	10	96207910	96207910	Human	1	name , alternate_id
597957671	CV3800565	single nucleotide variant	NM_013314.4(BLNK):c.608-13T>C	Agammaglobulinemia 4, autosomal recessive [RCV005137657]	likely benign	10	96215402	96215402	Human	1	name , alternate_id
597891517	CV3809697	single nucleotide variant	NM_013314.4(BLNK):c.362-20T>C	Agammaglobulinemia 4, autosomal recessive [RCV005151416]	likely benign	10	96224009	96224009	Human	1	name , alternate_id
597939506	CV3818664	single nucleotide variant	NM_013314.4(BLNK):c.362-11T>C	Agammaglobulinemia 4, autosomal recessive [RCV005158670]	likely benign	10	96224000	96224000	Human	1	name , alternate_id
597926629	CV3819736	single nucleotide variant	NM_013314.4(BLNK):c.818-16A>C	Agammaglobulinemia 4, autosomal recessive [RCV005156436]	likely benign	10	96204632	96204632	Human	1	name , alternate_id
597855294	CV3821785	single nucleotide variant	NM_013314.4(BLNK):c.747-18T>C	Agammaglobulinemia 4, autosomal recessive [RCV005174263]	likely benign	10	96207917	96207917	Human	1	name , alternate_id
597902768	CV3845862	single nucleotide variant	NM_013314.4(BLNK):c.204+14C>T	Agammaglobulinemia 4, autosomal recessive [RCV005181484]	likely benign	10	96230780	96230780	Human	1	name , alternate_id
597913782	CV3851034	single nucleotide variant	NM_013314.4(BLNK):c.607+17T>G	Agammaglobulinemia 4, autosomal recessive [RCV005204002]	likely benign	10	96216636	96216636	Human	1	name , alternate_id
597967507	CV3855841	single nucleotide variant	NM_013314.4(BLNK):c.934+14A>T	Agammaglobulinemia 4, autosomal recessive [RCV005194822]	likely benign	10	96204043	96204043	Human	1	name , alternate_id
597936849	CV3855903	single nucleotide variant	NM_013314.4(BLNK):c.934+19T>C	Agammaglobulinemia 4, autosomal recessive [RCV005186869]	likely benign	10	96204038	96204038	Human	1	name , alternate_id
597884719	CV3858127	single nucleotide variant	NM_013314.4(BLNK):c.935-11A>G	Agammaglobulinemia 4, autosomal recessive [RCV005199555]	likely benign	10	96201069	96201069	Human	1	name , alternate_id
15170667	CV744520	single nucleotide variant	NM_013314.4(BLNK):c.1252-4C>T	Agammaglobulinemia 4, autosomal recessive [RCV000905311]	likely benign	10	96192096	96192096	Human	1	name , alternate_id
15117944	CV775738	single nucleotide variant	NM_013314.4(BLNK):c.361+10C>T	Agammaglobulinemia 4, autosomal recessive [RCV001451667]	likely benign	10	96227400	96227400	Human	1	name , alternate_id
21406043	CV799626	single nucleotide variant	NM_013314.4(BLNK):c.362-17T>C	Agammaglobulinemia 4, autosomal recessive [RCV001001816]\|not provided [RCV004718810]	benign	10	96224006	96224006	Human	1	name , alternate_id
127320294	CV1156522	single nucleotide variant	NM_013314.4(BLNK):c.1096-11A>T	Agammaglobulinemia 4, autosomal recessive [RCV001522572]\|not provided [RCV001692433]	benign	10	96197074	96197074	Human	1	name , alternate_id
127300335	CV1156523	single nucleotide variant	NM_013314.4(BLNK):c.1096-16A>T	Agammaglobulinemia 4, autosomal recessive [RCV001514122]	benign	10	96197079	96197079	Human	1	name , alternate_id
150503800	CV1212555	single nucleotide variant	NM_013314.4(BLNK):c.935-235G>A	not provided [RCV001595430]	benign	10	96201293	96201293	Human		name
150447844	CV1216174	single nucleotide variant	NM_013314.4(BLNK):c.114-263C>T	not provided [RCV001611472]	benign	10	96243047	96243047	Human		name
150468823	CV1218971	single nucleotide variant	NM_013314.4(BLNK):c.205-213G>T	not provided [RCV001614723]	benign	10	96227779	96227779	Human		name
150498869	CV1224493	single nucleotide variant	NM_013314.4(BLNK):c.1096-83G>C	not provided [RCV001620323]	benign	10	96197146	96197146	Human		name
150510692	CV1229220	single nucleotide variant	NM_013314.4(BLNK):c.676+210T>C	not provided [RCV001637148]	benign	10	96215111	96215111	Human		name
150453240	CV1231801	deletion	NM_013314.4(BLNK):c.934+274del	not provided [RCV001648108]	benign	10	96203783	96203783	Human		name
150510896	CV1242538	single nucleotide variant	NM_013314.4(BLNK):c.525+302C>T	not provided [RCV001660890]	benign	10	96223524	96223524	Human		name
150465191	CV1252841	single nucleotide variant	NM_013314.4(BLNK):c.902+134G>A	not provided [RCV001670165]	benign	10	96204398	96204398	Human		name
150468535	CV1259511	single nucleotide variant	NM_013314.4(BLNK):c.935-141C>A	not provided [RCV001683811]	benign	10	96201199	96201199	Human		name
150454990	CV1261077	single nucleotide variant	NM_013314.4(BLNK):c.902+131T>C	not provided [RCV001681275]	benign	10	96204401	96204401	Human		name
150439254	CV1266748	single nucleotide variant	NM_013314.4(BLNK):c.746+225C>G	not provided [RCV001690183]	benign	10	96209613	96209613	Human		name
150496312	CV1272855	single nucleotide variant	NM_013314.4(BLNK):c.362-173C>G	not provided [RCV001688778]	benign	10	96224162	96224162	Human		name
150454093	CV1276941	single nucleotide variant	NM_013314.4(BLNK):c.935-179C>T	not provided [RCV001708732]	benign	10	96201237	96201237	Human		name
150481236	CV1279697	single nucleotide variant	NM_013314.4(BLNK):c.608-127A>G	not provided [RCV001714806]	benign	10	96215516	96215516	Human		name
150484369	CV1280433	single nucleotide variant	NM_013314.4(BLNK):c.362-147C>T	not provided [RCV001715361]	benign	10	96224136	96224136	Human		name
150437394	CV1286537	single nucleotide variant	NM_013314.4(BLNK):c.362-206G>A	not provided [RCV001724616]	benign	10	96224195	96224195	Human		name
152127995	CV1583696	single nucleotide variant	NM_013314.4(BLNK):c.1096-17T>A	Agammaglobulinemia 4, autosomal recessive [RCV002198941]	likely benign	10	96197080	96197080	Human	1	name , alternate_id
152028087	CV1642640	single nucleotide variant	NM_013314.4(BLNK):c.1252-17A>G	Agammaglobulinemia 4, autosomal recessive [RCV002185718]	likely benign	10	96192109	96192109	Human	1	name , alternate_id
152099698	CV1655126	deletion	NM_013314.4(BLNK):c.1096-17del	Agammaglobulinemia 4, autosomal recessive [RCV002115165]	benign	10	96197080	96197080	Human	1	name , alternate_id
156380819	CV2117978	single nucleotide variant	NM_013314.4(BLNK):c.1011+19A>C	Agammaglobulinemia 4, autosomal recessive [RCV002943125]	likely benign	10	96200963	96200963	Human	1	name , alternate_id
155979657	CV2157181	single nucleotide variant	NM_013314.4(BLNK):c.1012-11C>T	Agammaglobulinemia 4, autosomal recessive [RCV003016315]	likely benign	10	96200169	96200169	Human	1	name , alternate_id
402475069	CV2922429	single nucleotide variant	NM_013314.4(BLNK):c.1011+14T>C	Agammaglobulinemia 4, autosomal recessive [RCV003505555]	likely benign	10	96200968	96200968	Human	1	name , alternate_id
405044097	CV3137401	single nucleotide variant	NM_013314.4(BLNK):c.1251+13T>C	Agammaglobulinemia 4, autosomal recessive [RCV003831630]	likely benign	10	96196895	96196895	Human	1	name , alternate_id
597943985	CV3812429	single nucleotide variant	NM_013314.4(BLNK):c.1012-15C>T	Agammaglobulinemia 4, autosomal recessive [RCV005159639]	likely benign	10	96200173	96200173	Human	1	name , alternate_id
597971158	CV3832630	single nucleotide variant	NM_013314.4(BLNK):c.1252-20T>C	Agammaglobulinemia 4, autosomal recessive [RCV005166709]	likely benign	10	96192112	96192112	Human	1	name , alternate_id
127299963	CV1156524	microsatellite	NM_013314.4(BLNK):c.608-22CA[5]	Agammaglobulinemia 4, autosomal recessive [RCV001513901]	benign	10	96215403	96215404	Human		name , alternate_id
150510378	CV1211620	microsatellite	NM_013314.4(BLNK):c.608-42TA[8]	not provided [RCV001597412]	benign	10	96215412	96215415	Human		name
150475757	CV1216712	single nucleotide variant	NM_013314.4(BLNK):c.1012-155T>C	not provided [RCV001616005]	benign	10	96200313	96200313	Human		name
150491554	CV1239297	microsatellite	NM_013314.4(BLNK):c.608-42TA[9]	not provided [RCV001654865]\|not specified [RCV003487610]	benign	10	96215412	96215413	Human		name
150488539	CV1265264	single nucleotide variant	NM_013314.4(BLNK):c.1095+195G>A	not provided [RCV001687300]	benign	10	96199880	96199880	Human		name
405697461	CV3226856	single nucleotide variant	NM_013314.4(BLNK):c.1252-1139T>C	not provided [RCV003993250]	likely benign	10	96193231	96193231	Human		name
150457853	CV1248846	microsatellite	NM_013314.4(BLNK):c.361+242ACAA[6]	not provided [RCV001669022]	benign	10	96227141	96227144	Human		name
127317866	CV1120879	single nucleotide variant	NM_013314.4(BLNK):c.24C>A (p.Thr8=)	Agammaglobulinemia 4, autosomal recessive [RCV001466013]	likely benign	10	96271375	96271375	Human	1	name , alternate_id
152092061	CV1563776	single nucleotide variant	NM_013314.4(BLNK):c.24C>T (p.Thr8=)	Agammaglobulinemia 4, autosomal recessive [RCV002171957]	likely benign	10	96271375	96271375	Human	1	name , alternate_id
127258254	CV1077674	single nucleotide variant	NM_013314.4(BLNK):c.69T>C (p.His23=)	Agammaglobulinemia 4, autosomal recessive [RCV001401658]	likely benign	10	96247028	96247028	Human	1	name , alternate_id
152036489	CV1605431	single nucleotide variant	NM_013314.4(BLNK):c.30C>T (p.Pro10=)	Agammaglobulinemia 4, autosomal recessive [RCV002107069]	likely benign	10	96271369	96271369	Human	1	name , alternate_id
152113556	CV1605895	deletion	NM_013314.4(BLNK):c.526-22_526-19del	Agammaglobulinemia 4, autosomal recessive [RCV002116878]	likely benign	10	96216753	96216756	Human	1	name , alternate_id
156097376	CV2152238	deletion	NM_013314.4(BLNK):c.26del (p.Val9fs)	Agammaglobulinemia 4, autosomal recessive [RCV003020917]	pathogenic	10	96271373	96271373	Human	1	name , alternate_id
402473030	CV2925771	single nucleotide variant	NM_013314.4(BLNK):c.5A>T (p.Asp2Val)	Agammaglobulinemia 4, autosomal recessive [RCV003505036]	uncertain significance	10	96271394	96271394	Human	1	name , alternate_id
405091788	CV2985442	single nucleotide variant	NM_013314.4(BLNK):c.81C>T (p.Asn27=)	Agammaglobulinemia 4, autosomal recessive [RCV003613789]	likely benign	10	96247016	96247016	Human	1	name , alternate_id
597857305	CV3822239	duplication	NM_013314.4(BLNK):c.205-19_205-16dup	Agammaglobulinemia 4, autosomal recessive [RCV005174537]	likely benign	10	96227581	96227582	Human	1	name , alternate_id
13484892	CV460421	single nucleotide variant	NM_013314.4(BLNK):c.48G>A (p.Arg16=)	Agammaglobulinemia 4, autosomal recessive [RCV000530527]\|not provided [RCV004718732]	benign	10	96247049	96247049	Human	1	name , alternate_id
127322433	CV1141713	single nucleotide variant	NM_013314.4(BLNK):c.294G>A (p.Pro98=)	Agammaglobulinemia 4, autosomal recessive [RCV001505122]\|not provided [RCV005243578]	likely benign	10	96227477	96227477	Human	1	name , alternate_id
127316209	CV1141714	single nucleotide variant	NM_013314.4(BLNK):c.264C>G (p.Ala88=)	Agammaglobulinemia 4, autosomal recessive [RCV001502956]	likely benign	10	96227507	96227507	Human	1	name , alternate_id
127336941	CV1141715	single nucleotide variant	NM_013314.4(BLNK):c.255G>C (p.Val85=)	Agammaglobulinemia 4, autosomal recessive [RCV001492499]	likely benign	10	96227516	96227516	Human	1	name , alternate_id
127316857	CV1141716	single nucleotide variant	NM_013314.4(BLNK):c.210C>T (p.Ser70=)	Agammaglobulinemia 4, autosomal recessive [RCV001503167]\|not provided [RCV004706237]	likely benign	10	96227561	96227561	Human	1	name , alternate_id
127335045	CV1141717	single nucleotide variant	NM_013314.4(BLNK):c.138T>C (p.Ser46=)	Agammaglobulinemia 4, autosomal recessive [RCV001491248]	likely benign	10	96242760	96242760	Human	1	name , alternate_id
151758834	CV1391767	single nucleotide variant	NM_013314.4(BLNK):c.25G>A (p.Val9Ile)	Agammaglobulinemia 4, autosomal recessive [RCV002044034]	uncertain significance	10	96271374	96271374	Human	1	name , alternate_id
151783623	CV1435117	single nucleotide variant	NM_013314.4(BLNK):c.276T>C (p.Ala92=)	Agammaglobulinemia 4, autosomal recessive [RCV001916105]	likely benign	10	96227495	96227495	Human	1	name , alternate_id
152064964	CV1535908	single nucleotide variant	NM_013314.4(BLNK):c.234C>T (p.His78=)	Agammaglobulinemia 4, autosomal recessive [RCV002168514]	likely benign	10	96227537	96227537	Human	1	name , alternate_id
152064639	CV1539605	single nucleotide variant	NM_013314.4(BLNK):c.255G>A (p.Val85=)	Agammaglobulinemia 4, autosomal recessive [RCV002147241]	likely benign	10	96227516	96227516	Human	1	name , alternate_id
152163399	CV1561359	single nucleotide variant	NM_013314.4(BLNK):c.144T>C (p.Pro48=)	Agammaglobulinemia 4, autosomal recessive [RCV002104223]	likely benign	10	96242754	96242754	Human	1	name , alternate_id
152047851	CV1656795	single nucleotide variant	NM_013314.4(BLNK):c.237G>A (p.Ser79=)	Agammaglobulinemia 4, autosomal recessive [RCV002189035]	likely benign	10	96227534	96227534	Human	1	name , alternate_id
156128281	CV1966090	insertion	NM_013314.4(BLNK):c.525+10_525+11insG	Agammaglobulinemia 4, autosomal recessive [RCV002593396]	likely benign	10	96223815	96223816	Human	1	name , alternate_id
156141133	CV1973604	single nucleotide variant	NM_013314.4(BLNK):c.252C>T (p.Tyr84=)	Agammaglobulinemia 4, autosomal recessive [RCV002593834]\|BLNK-related disorder [RCV003926420]	likely benign	10	96227519	96227519	Human	1	name , trait , alternate_id
405105272	CV2945893	single nucleotide variant	NM_013314.4(BLNK):c.159T>C (p.Ala53=)	Agammaglobulinemia 4, autosomal recessive [RCV003614349]	likely benign	10	96242739	96242739	Human	1	name , alternate_id
597919064	CV3811296	single nucleotide variant	NM_013314.4(BLNK):c.243A>T (p.Ser81=)	Agammaglobulinemia 4, autosomal recessive [RCV005155331]	likely benign	10	96227528	96227528	Human	1	name , alternate_id
597892385	CV3836005	single nucleotide variant	NM_013314.4(BLNK):c.273C>T (p.Asn91=)	Agammaglobulinemia 4, autosomal recessive [RCV005179778]	likely benign	10	96227498	96227498	Human	1	name , alternate_id
12896745	CV390501	single nucleotide variant	NM_013314.4(BLNK):c.171T>C (p.Pro57=)	Agammaglobulinemia 4, autosomal recessive [RCV001518650]\|not provided [RCV001595005]\|not specified [RCV000455769]	benign	10	96230827	96230827	Human	1	name , alternate_id
12895978	CV390502	single nucleotide variant	NM_013314.4(BLNK):c.115C>T (p.Leu39=)	Agammaglobulinemia 4, autosomal recessive [RCV000970643]\|not provided [RCV003424003]\|not specified [RCV000454711]	likely benign\|uncertain significance	10	96242783	96242783	Human	1	name , alternate_id
13436349	CV433382	single nucleotide variant	NM_013314.4(BLNK):c.156C>T (p.Tyr52=)	Agammaglobulinemia 4, autosomal recessive [RCV002524909]\|not specified [RCV000507031]	likely benign	10	96242742	96242742	Human	1	name , alternate_id
13471102	CV460704	single nucleotide variant	NM_013314.4(BLNK):c.270G>A (p.Glu90=)	Agammaglobulinemia 4, autosomal recessive [RCV000546638]\|BLNK-related disorder [RCV003962554]	benign	10	96227501	96227501	Human	1	name , trait , alternate_id
13506533	CV461181	single nucleotide variant	NM_013314.4(BLNK):c.195C>T (p.Ser65=)	Agammaglobulinemia 4, autosomal recessive [RCV001001694]\|not provided [RCV004718746]	benign	10	96230803	96230803	Human	1	name , alternate_id
15149969	CV724133	single nucleotide variant	NM_013314.4(BLNK):c.132T>A (p.Pro44=)	Agammaglobulinemia 4, autosomal recessive [RCV000879278]	benign	10	96242766	96242766	Human	1	name , alternate_id
15194681	CV752354	single nucleotide variant	NM_013314.4(BLNK):c.177C>T (p.Asp59=)	Agammaglobulinemia 4, autosomal recessive [RCV000911194]\|BLNK-related disorder [RCV003923156]	likely benign	10	96230821	96230821	Human	1	name , trait , alternate_id
15127233	CV768082	single nucleotide variant	NM_013314.4(BLNK):c.288C>T (p.Tyr96=)	Agammaglobulinemia 4, autosomal recessive [RCV000941511]	likely benign	10	96227483	96227483	Human	1	name , alternate_id
15100509	CV768083	single nucleotide variant	NM_013314.4(BLNK):c.108C>A (p.Ile36=)	Agammaglobulinemia 4, autosomal recessive [RCV001495360]	likely benign	10	96246989	96246989	Human	1	name , alternate_id
126738873	CV1000712	single nucleotide variant	NM_013314.4(BLNK):c.498C>G (p.Pro166=)	not provided [RCV001312168]	likely benign	10	96223853	96223853	Human		name
126917556	CV1046876	single nucleotide variant	NM_013314.4(BLNK):c.34A>T (p.Ser12Cys)	Agammaglobulinemia 4, autosomal recessive [RCV001361238]	uncertain significance	10	96271365	96271365	Human	1	name , alternate_id
127246840	CV1077670	single nucleotide variant	NM_013314.4(BLNK):c.858C>T (p.His286=)	Agammaglobulinemia 4, autosomal recessive [RCV001399039]	likely benign	10	96204576	96204576	Human	1	name , alternate_id
127282421	CV1077671	single nucleotide variant	NM_013314.4(BLNK):c.726A>G (p.Pro242=)	Agammaglobulinemia 4, autosomal recessive [RCV001411110]	likely benign	10	96209858	96209858	Human	1	name , alternate_id
127246309	CV1077673	single nucleotide variant	NM_013314.4(BLNK):c.316A>C (p.Arg106=)	Agammaglobulinemia 4, autosomal recessive [RCV001398939]	likely benign	10	96227455	96227455	Human	1	name , alternate_id
127262574	CV1099309	single nucleotide variant	NM_013314.4(BLNK):c.543C>T (p.Pro181=)	Agammaglobulinemia 4, autosomal recessive [RCV001428372]	likely benign	10	96216717	96216717	Human	1	name , alternate_id
127276880	CV1099310	single nucleotide variant	NM_013314.4(BLNK):c.315C>T (p.Thr105=)	Agammaglobulinemia 4, autosomal recessive [RCV001444076]	likely benign	10	96227456	96227456	Human	1	name , alternate_id
127296912	CV1120875	single nucleotide variant	NM_013314.4(BLNK):c.651C>T (p.Pro217=)	Agammaglobulinemia 4, autosomal recessive [RCV001452889]	likely benign	10	96215346	96215346	Human	1	name , alternate_id
127296125	CV1120878	single nucleotide variant	NM_013314.4(BLNK):c.519G>A (p.Glu173=)	Agammaglobulinemia 4, autosomal recessive [RCV001452678]	likely benign	10	96223832	96223832	Human	1	name , alternate_id
127297905	CV1141712	single nucleotide variant	NM_013314.4(BLNK):c.465C>T (p.Ala155=)	Agammaglobulinemia 4, autosomal recessive [RCV001497874]	likely benign	10	96223886	96223886	Human	1	name , alternate_id
150489021	CV1265342	microsatellite	NM_013314.4(BLNK):c.1095+65_1095+67del	not provided [RCV001687378]\|not specified [RCV003487690]	benign	10	96200008	96200010	Human		name
151755973	CV1417933	single nucleotide variant	NM_013314.4(BLNK):c.52C>T (p.Leu18Phe)	Agammaglobulinemia 4, autosomal recessive [RCV001894799]	uncertain significance	10	96247045	96247045	Human	1	name , alternate_id
151762836	CV1447423	single nucleotide variant	NM_013314.4(BLNK):c.49C>A (p.Gln17Lys)	Agammaglobulinemia 4, autosomal recessive [RCV001895536]\|Inborn genetic diseases [RCV003164298]	uncertain significance	10	96247048	96247048	Human	2	name , alternate_id
152056837	CV1523099	single nucleotide variant	NM_013314.4(BLNK):c.873G>T (p.Val291=)	Agammaglobulinemia 4, autosomal recessive [RCV002167545]	likely benign	10	96204561	96204561	Human	1	name , alternate_id
152175704	CV1527095	single nucleotide variant	NM_013314.4(BLNK):c.585C>T (p.Ser195=)	Agammaglobulinemia 4, autosomal recessive [RCV002163840]	likely benign	10	96216675	96216675	Human	1	name , alternate_id
152152152	CV1559805	single nucleotide variant	NM_013314.4(BLNK):c.939T>C (p.Phe313=)	Agammaglobulinemia 4, autosomal recessive [RCV002220983]	likely benign	10	96201054	96201054	Human	1	name , alternate_id
152098747	CV1578485	single nucleotide variant	NM_013314.4(BLNK):c.732G>C (p.Pro244=)	Agammaglobulinemia 4, autosomal recessive [RCV002151540]	likely benign	10	96209852	96209852	Human	1	name , alternate_id
152154836	CV1658019	single nucleotide variant	NM_013314.4(BLNK):c.315C>A (p.Thr105=)	Agammaglobulinemia 4, autosomal recessive [RCV002179991]	likely benign	10	96227456	96227456	Human	1	name , alternate_id
152145497	CV1661703	single nucleotide variant	NM_013314.4(BLNK):c.333C>T (p.Ala111=)	Agammaglobulinemia 4, autosomal recessive [RCV002157364]	likely benign	10	96227438	96227438	Human	1	name , alternate_id
155907944	CV2027748	single nucleotide variant	NM_013314.4(BLNK):c.903A>G (p.Lys301=)	Agammaglobulinemia 4, autosomal recessive [RCV002726590]	uncertain significance	10	96204088	96204088	Human	1	name , alternate_id
156182396	CV2068541	single nucleotide variant	NM_013314.4(BLNK):c.334C>T (p.Leu112=)	Agammaglobulinemia 4, autosomal recessive [RCV002851874]	likely benign	10	96227437	96227437	Human	1	name , alternate_id
156337956	CV2096077	single nucleotide variant	NM_013314.4(BLNK):c.351C>T (p.Gly117=)	Agammaglobulinemia 4, autosomal recessive [RCV002900315]	uncertain significance	10	96227420	96227420	Human	1	name , alternate_id
156150182	CV2124806	single nucleotide variant	NM_013314.4(BLNK):c.339C>A (p.Pro113=)	Agammaglobulinemia 4, autosomal recessive [RCV002928874]	likely benign	10	96227432	96227432	Human	1	name , alternate_id
156004539	CV2126488	single nucleotide variant	NM_013314.4(BLNK):c.456C>T (p.Thr152=)	Agammaglobulinemia 4, autosomal recessive [RCV002975340]	likely benign	10	96223895	96223895	Human	1	name , alternate_id
156195506	CV2158829	single nucleotide variant	NM_013314.4(BLNK):c.612C>T (p.Pro204=)	Agammaglobulinemia 4, autosomal recessive [RCV003041789]	likely benign	10	96215385	96215385	Human	1	name , alternate_id
156362705	CV2159021	single nucleotide variant	NM_013314.4(BLNK):c.720T>G (p.Ala240=)	Agammaglobulinemia 4, autosomal recessive [RCV003031678]	likely benign	10	96209864	96209864	Human	1	name , alternate_id
156072046	CV2295935	single nucleotide variant	NM_013314.4(BLNK):c.81C>G (p.Asn27Lys)	Inborn genetic diseases [RCV002868763]	uncertain significance	10	96247016	96247016	Human	1	name
243052621	CV2416189	single nucleotide variant	NM_013314.4(BLNK):c.68A>G (p.His23Arg)	not provided [RCV003149250]	uncertain significance	10	96247029	96247029	Human		name
401922912	CV2796610	deletion	NM_013314.4(BLNK):c.264del (p.Glu89fs)	BLNK-related disorder [RCV003404229]	likely pathogenic	10	96227507	96227507	Human		name , trait , alternate_id
402471432	CV2907708	single nucleotide variant	NM_013314.4(BLNK):c.948G>A (p.Gly316=)	Agammaglobulinemia 4, autosomal recessive [RCV003504671]	likely benign	10	96201045	96201045	Human	1	name , alternate_id
405090749	CV2980639	single nucleotide variant	NM_013314.4(BLNK):c.762A>G (p.Thr254=)	Agammaglobulinemia 4, autosomal recessive [RCV003613710]	likely benign	10	96207884	96207884	Human	1	name , alternate_id
405107215	CV3007190	single nucleotide variant	NM_013314.4(BLNK):c.999T>C (p.Thr333=)	Agammaglobulinemia 4, autosomal recessive [RCV003614790]	likely benign	10	96200994	96200994	Human	1	name , alternate_id
405106742	CV3008222	insertion	NM_013314.4(BLNK):c.608-15_608-14insCG	Agammaglobulinemia 4, autosomal recessive [RCV003614636]	likely benign	10	96215403	96215404	Human	1	name , alternate_id
405108446	CV3041786	single nucleotide variant	NM_013314.4(BLNK):c.987A>G (p.Ser329=)	Agammaglobulinemia 4, autosomal recessive [RCV003615064]	likely benign	10	96201006	96201006	Human	1	name , alternate_id
405109524	CV3060993	single nucleotide variant	NM_013314.4(BLNK):c.315C>G (p.Thr105=)	Agammaglobulinemia 4, autosomal recessive [RCV003615283]	likely benign	10	96227456	96227456	Human	1	name , alternate_id
405203523	CV3143985	single nucleotide variant	NM_013314.4(BLNK):c.342C>T (p.Phe114=)	Agammaglobulinemia 4, autosomal recessive [RCV003844775]	likely benign	10	96227429	96227429	Human	1	name , alternate_id
597966533	CV3794249	single nucleotide variant	NM_013314.4(BLNK):c.954C>T (p.Asn318=)	Agammaglobulinemia 4, autosomal recessive [RCV005140425]	likely benign	10	96201039	96201039	Human	1	name , alternate_id
597956963	CV3800380	single nucleotide variant	NM_013314.4(BLNK):c.450C>G (p.Thr150=)	Agammaglobulinemia 4, autosomal recessive [RCV005137472]	likely benign	10	96223901	96223901	Human	1	name , alternate_id
597873095	CV3836239	single nucleotide variant	NM_013314.4(BLNK):c.462G>A (p.Pro154=)	Agammaglobulinemia 4, autosomal recessive [RCV005177036]	likely benign	10	96223889	96223889	Human	1	name , alternate_id
597861334	CV3850766	single nucleotide variant	NM_013314.4(BLNK):c.555T>C (p.Asn185=)	Agammaglobulinemia 4, autosomal recessive [RCV005195899]	likely benign	10	96216705	96216705	Human	1	name , alternate_id
597967866	CV3853287	single nucleotide variant	NM_013314.4(BLNK):c.453C>A (p.Ser151=)	Agammaglobulinemia 4, autosomal recessive [RCV005194929]	likely benign	10	96223898	96223898	Human	1	name , alternate_id
597927523	CV3855519	single nucleotide variant	NM_013314.4(BLNK):c.987A>T (p.Ser329=)	Agammaglobulinemia 4, autosomal recessive [RCV005206118]	likely benign	10	96201006	96201006	Human	1	name , alternate_id
13621369	CV525541	single nucleotide variant	NM_013314.4(BLNK):c.957A>C (p.Pro319=)	Agammaglobulinemia 4, autosomal recessive [RCV000648344]	likely benign	10	96201036	96201036	Human	1	name , alternate_id
13621365	CV525542	single nucleotide variant	NM_013314.4(BLNK):c.780A>G (p.Pro260=)	Agammaglobulinemia 4, autosomal recessive [RCV000648346]	likely benign	10	96207048	96207048	Human	1	name , alternate_id
13621428	CV525543	single nucleotide variant	NM_013314.4(BLNK):c.321G>A (p.Pro107=)	Agammaglobulinemia 4, autosomal recessive [RCV000648347]	likely benign	10	96227450	96227450	Human	1	name , alternate_id
13621380	CV525545	single nucleotide variant	NM_013314.4(BLNK):c.88G>C (p.Gly30Arg)	Agammaglobulinemia 4, autosomal recessive [RCV000648341]\|not provided [RCV001508300]	uncertain significance	10	96247009	96247009	Human	1	name , alternate_id
13621363	CV525635	single nucleotide variant	NM_013314.4(BLNK):c.648G>A (p.Thr216=)	Agammaglobulinemia 4, autosomal recessive [RCV000648345]	likely benign	10	96215349	96215349	Human	1	name , alternate_id
14730376	CV639338	single nucleotide variant	NM_013314.4(BLNK):c.71A>G (p.Asp24Gly)	Agammaglobulinemia 4, autosomal recessive [RCV000817375]	uncertain significance	10	96247026	96247026	Human	1	name , alternate_id
15161590	CV737660	single nucleotide variant	NM_013314.4(BLNK):c.786C>T (p.Ala262=)	not provided [RCV000903377]	likely benign	10	96207042	96207042	Human		name
15151473	CV737661	single nucleotide variant	NM_013314.4(BLNK):c.558T>C (p.Asp186=)	Agammaglobulinemia 4, autosomal recessive [RCV000901371]\|BLNK-related disorder [RCV003950573]	likely benign	10	96216702	96216702	Human	1	name , trait , alternate_id
15138235	CV737662	single nucleotide variant	NM_013314.4(BLNK):c.453C>T (p.Ser151=)	not provided [RCV000898943]	likely benign	10	96223898	96223898	Human		name
15156795	CV752350	single nucleotide variant	NM_013314.4(BLNK):c.759G>A (p.Thr253=)	Agammaglobulinemia 4, autosomal recessive [RCV000924736]	likely benign	10	96207887	96207887	Human	1	name , alternate_id
15153019	CV752351	single nucleotide variant	NM_013314.4(BLNK):c.744C>T (p.Ala248=)	Agammaglobulinemia 4, autosomal recessive [RCV000923983]\|not provided [RCV003424475]	benign\|likely benign	10	96209840	96209840	Human	1	name , alternate_id
15132744	CV752352	single nucleotide variant	NM_013314.4(BLNK):c.552T>C (p.Asp184=)	Agammaglobulinemia 4, autosomal recessive [RCV000920395]	likely benign	10	96216708	96216708	Human	1	name , alternate_id
15110942	CV752353	single nucleotide variant	NM_013314.4(BLNK):c.540C>T (p.Val180=)	Agammaglobulinemia 4, autosomal recessive [RCV001396231]	likely benign	10	96216720	96216720	Human	1	name , alternate_id
26916066	CV837542	single nucleotide variant	NM_013314.4(BLNK):c.94A>T (p.Ile32Leu)	Agammaglobulinemia 4, autosomal recessive [RCV001041719]	uncertain significance	10	96247003	96247003	Human	1	name , alternate_id
26912196	CV837543	single nucleotide variant	NM_013314.4(BLNK):c.45G>C (p.Leu15Phe)	Agammaglobulinemia 4, autosomal recessive [RCV001039074]	uncertain significance	10	96271354	96271354	Human	1	name , alternate_id
126753643	CV1009341	single nucleotide variant	NM_013314.4(BLNK):c.201C>G (p.Asp67Glu)	Agammaglobulinemia 4, autosomal recessive [RCV001327325]	uncertain significance	10	96230797	96230797	Human	1	name , alternate_id
126728635	CV1029901	single nucleotide variant	NM_013314.4(BLNK):c.191G>C (p.Trp64Ser)	Agammaglobulinemia 4, autosomal recessive [RCV001348965]	uncertain significance	10	96230807	96230807	Human	1	name , alternate_id
126923541	CV1046875	single nucleotide variant	NM_013314.4(BLNK):c.275C>A (p.Ala92Asp)	Agammaglobulinemia 4, autosomal recessive [RCV001365964]	uncertain significance	10	96227496	96227496	Human	1	name , alternate_id
127278236	CV1099308	single nucleotide variant	NM_013314.4(BLNK):c.1041T>C (p.Tyr347=)	Agammaglobulinemia 4, autosomal recessive [RCV001444935]	likely benign	10	96200129	96200129	Human	1	name , alternate_id
127329578	CV1120873	single nucleotide variant	NM_013314.4(BLNK):c.1281G>A (p.Arg427=)	Agammaglobulinemia 4, autosomal recessive [RCV001470315]	likely benign	10	96192063	96192063	Human	1	name , alternate_id
127314753	CV1141711	single nucleotide variant	NM_013314.4(BLNK):c.1287T>C (p.His429=)	Agammaglobulinemia 4, autosomal recessive [RCV001482330]	likely benign	10	96192057	96192057	Human	1	name , alternate_id
151772233	CV1366538	single nucleotide variant	NM_013314.4(BLNK):c.274G>A (p.Ala92Thr)	Agammaglobulinemia 4, autosomal recessive [RCV001929636]\|Inborn genetic diseases [RCV003303425]	uncertain significance	10	96227497	96227497	Human	2	name , alternate_id
151790644	CV1389147	single nucleotide variant	NM_013314.4(BLNK):c.230A>G (p.Glu77Gly)	Agammaglobulinemia 4, autosomal recessive [RCV002010668]	uncertain significance	10	96227541	96227541	Human	1	name , alternate_id
151737899	CV1389920	single nucleotide variant	NM_013314.4(BLNK):c.208A>G (p.Ser70Gly)	Agammaglobulinemia 4, autosomal recessive [RCV001892972]	uncertain significance	10	96227563	96227563	Human	1	name , alternate_id
151768251	CV1394074	single nucleotide variant	NM_013314.4(BLNK):c.157G>A (p.Ala53Thr)	Agammaglobulinemia 4, autosomal recessive [RCV002008596]	uncertain significance	10	96242741	96242741	Human	1	name , alternate_id
151755122	CV1453928	single nucleotide variant	NM_013314.4(BLNK):c.211G>A (p.Asp71Asn)	Agammaglobulinemia 4, autosomal recessive [RCV001913376]	uncertain significance	10	96227560	96227560	Human	1	name , alternate_id
151819480	CV1490459	single nucleotide variant	NM_013314.4(BLNK):c.198T>A (p.Asp66Glu)	Agammaglobulinemia 4, autosomal recessive [RCV001992627]	uncertain significance	10	96230800	96230800	Human	1	name , alternate_id
151791683	CV1515503	single nucleotide variant	NM_013314.4(BLNK):c.210C>G (p.Ser70Arg)	Agammaglobulinemia 4, autosomal recessive [RCV002027285]	uncertain significance	10	96227561	96227561	Human	1	name , alternate_id
152040562	CV1553298	single nucleotide variant	NM_013314.4(BLNK):c.1110T>C (p.Leu370=)	Agammaglobulinemia 4, autosomal recessive [RCV002087899]	likely benign	10	96197049	96197049	Human	1	name , alternate_id
156102254	CV1907187	single nucleotide variant	NM_013314.4(BLNK):c.1195C>A (p.Arg399=)	Agammaglobulinemia 4, autosomal recessive [RCV003080646]	likely benign	10	96196964	96196964	Human	1	name , alternate_id
156369737	CV1923411	single nucleotide variant	NM_013314.4(BLNK):c.253G>A (p.Val85Met)	Agammaglobulinemia 4, autosomal recessive [RCV002633281]	uncertain significance	10	96227518	96227518	Human	1	name , alternate_id
155910337	CV1980099	single nucleotide variant	NM_013314.4(BLNK):c.262G>T (p.Ala88Ser)	Agammaglobulinemia 4, autosomal recessive [RCV002613941]	uncertain significance	10	96227509	96227509	Human	1	name , alternate_id
156399482	CV1982136	single nucleotide variant	NM_013314.4(BLNK):c.184G>C (p.Glu62Gln)	Agammaglobulinemia 4, autosomal recessive [RCV002635832]\|Inborn genetic diseases [RCV005308795]	uncertain significance	10	96230814	96230814	Human	2	name , alternate_id
156113802	CV1985077	single nucleotide variant	NM_013314.4(BLNK):c.248T>C (p.Met83Thr)	Agammaglobulinemia 4, autosomal recessive [RCV002622681]	uncertain significance	10	96227523	96227523	Human	1	name , alternate_id
155937757	CV2146361	single nucleotide variant	NM_013314.4(BLNK):c.292C>G (p.Pro98Ala)	Agammaglobulinemia 4, autosomal recessive [RCV003014059]	uncertain significance	10	96227479	96227479	Human	1	name , alternate_id
405105355	CV2953295	single nucleotide variant	NM_013314.4(BLNK):c.203T>C (p.Phe68Ser)	Agammaglobulinemia 4, autosomal recessive [RCV003614369]	uncertain significance	10	96230795	96230795	Human	1	name , alternate_id
405106088	CV3077779	single nucleotide variant	NM_013314.4(BLNK):c.1173G>A (p.Lys391=)	Agammaglobulinemia 4, autosomal recessive [RCV003614526]	likely benign	10	96196986	96196986	Human	1	name , alternate_id
405709379	CV3225628	single nucleotide variant	NM_013314.4(BLNK):c.145C>T (p.Arg49Ter)	Agammaglobulinemia 4, autosomal recessive [RCV003990685]	likely pathogenic	10	96242753	96242753	Human	1	name , alternate_id
597948942	CV3759235	single nucleotide variant	NM_013314.4(BLNK):c.1020C>A (p.Gly340=)	Agammaglobulinemia 4, autosomal recessive [RCV005079032]	likely benign	10	96200150	96200150	Human	1	name , alternate_id
597920520	CV3765134	single nucleotide variant	NM_013314.4(BLNK):c.1227G>A (p.Leu409=)	Agammaglobulinemia 4, autosomal recessive [RCV005115151]	likely benign	10	96196932	96196932	Human	1	name , alternate_id
597919886	CV3781176	single nucleotide variant	NM_013314.4(BLNK):c.1326C>T (p.Asn442=)	Agammaglobulinemia 4, autosomal recessive [RCV005130058]	likely benign	10	96192018	96192018	Human	1	name , alternate_id
597927595	CV3788699	single nucleotide variant	NM_013314.4(BLNK):c.101A>C (p.Asn34Thr)	Agammaglobulinemia 4, autosomal recessive [RCV005131177]	uncertain significance	10	96246996	96246996	Human	1	name , alternate_id
597949820	CV3797726	single nucleotide variant	NM_013314.4(BLNK):c.252C>A (p.Tyr84Ter)	Agammaglobulinemia 4, autosomal recessive [RCV005135718]	pathogenic	10	96227519	96227519	Human	1	name , alternate_id
597868547	CV3803346	single nucleotide variant	NM_013314.4(BLNK):c.220A>C (p.Asn74His)	Agammaglobulinemia 4, autosomal recessive [RCV005147943]	uncertain significance	10	96227551	96227551	Human	1	name , alternate_id
13506510	CV460362	single nucleotide variant	NM_013314.4(BLNK):c.262G>A (p.Ala88Thr)	Agammaglobulinemia 4, autosomal recessive [RCV000576178]\|not provided [RCV004718745]	benign	10	96227509	96227509	Human	1	name , alternate_id
13801460	CV564065	single nucleotide variant	NM_013314.4(BLNK):c.254T>C (p.Val85Ala)	Agammaglobulinemia 4, autosomal recessive [RCV000697853]\|Inborn genetic diseases [RCV002533502]	uncertain significance	10	96227517	96227517	Human	2	name , alternate_id
13820928	CV564066	single nucleotide variant	NM_013314.4(BLNK):c.178G>A (p.Glu60Lys)	Agammaglobulinemia 4, autosomal recessive [RCV000695196]	uncertain significance	10	96230820	96230820	Human	1	name , alternate_id
14726225	CV639337	single nucleotide variant	NM_013314.4(BLNK):c.196G>A (p.Asp66Asn)	Agammaglobulinemia 4, autosomal recessive [RCV000815542]	uncertain significance	10	96230802	96230802	Human	1	name , alternate_id
15167713	CV752349	single nucleotide variant	NM_013314.4(BLNK):c.1230C>A (p.Gly410=)	Agammaglobulinemia 4, autosomal recessive [RCV001434999]	likely benign	10	96196929	96196929	Human	1	name , alternate_id
15175817	CV768080	single nucleotide variant	NM_013314.4(BLNK):c.1125T>A (p.Ser375=)	Agammaglobulinemia 4, autosomal recessive [RCV001499783]	likely benign	10	96197034	96197034	Human	1	name , alternate_id
15121826	CV768081	single nucleotide variant	NM_013314.4(BLNK):c.1020C>T (p.Gly340=)	Agammaglobulinemia 4, autosomal recessive [RCV001501431]	likely benign	10	96200150	96200150	Human	1	name , alternate_id
26916267	CV837539	single nucleotide variant	NM_013314.4(BLNK):c.293C>T (p.Pro98Leu)	Agammaglobulinemia 4, autosomal recessive [RCV001041849]	uncertain significance	10	96227478	96227478	Human	1	name , alternate_id
26911987	CV837540	single nucleotide variant	NM_013314.4(BLNK):c.265G>A (p.Glu89Lys)	Agammaglobulinemia 4, autosomal recessive [RCV001038904]	uncertain significance	10	96227506	96227506	Human	1	name , alternate_id
26921153	CV837541	single nucleotide variant	NM_013314.4(BLNK):c.206A>G (p.Asp69Gly)	Agammaglobulinemia 4, autosomal recessive [RCV001060715]\|Inborn genetic diseases [RCV003160488]	uncertain significance	10	96227565	96227565	Human	2	name , alternate_id
38484502	CV925990	single nucleotide variant	NM_013314.4(BLNK):c.249G>A (p.Met83Ile)	Agammaglobulinemia 4, autosomal recessive [RCV001219460]	uncertain significance	10	96227522	96227522	Human	1	name , alternate_id
126759928	CV994147	single nucleotide variant	NM_013314.4(BLNK):c.284G>A (p.Ser95Asn)	Agammaglobulinemia 4, autosomal recessive [RCV001309160]	uncertain significance	10	96227487	96227487	Human	1	name , alternate_id
126745876	CV994148	single nucleotide variant	NM_013314.4(BLNK):c.273C>A (p.Asn91Lys)	Agammaglobulinemia 4, autosomal recessive [RCV001296506]\|Inborn genetic diseases [RCV003284144]	uncertain significance	10	96227498	96227498	Human	2	name , alternate_id
126728199	CV1009337	single nucleotide variant	NM_013314.4(BLNK):c.646A>G (p.Thr216Ala)	Agammaglobulinemia 4, autosomal recessive [RCV001312458]\|Inborn genetic diseases [RCV004034257]	uncertain significance	10	96215351	96215351	Human	2	name , alternate_id
126769931	CV1009338	single nucleotide variant	NM_013314.4(BLNK):c.434A>G (p.Glu145Gly)	Agammaglobulinemia 4, autosomal recessive [RCV001322260]	uncertain significance	10	96223917	96223917	Human	1	name , alternate_id
126737111	CV1009339	single nucleotide variant	NM_013314.4(BLNK):c.377A>G (p.Gln126Arg)	Agammaglobulinemia 4, autosomal recessive [RCV001324754]	uncertain significance	10	96223974	96223974	Human	1	name , alternate_id
126745349	CV1009340	single nucleotide variant	NM_013314.4(BLNK):c.328C>G (p.Pro110Ala)	Agammaglobulinemia 4, autosomal recessive [RCV001315061]	uncertain significance	10	96227443	96227443	Human	1	name , alternate_id
126728606	CV1029899	single nucleotide variant	NM_013314.4(BLNK):c.970C>T (p.Pro324Ser)	Agammaglobulinemia 4, autosomal recessive [RCV001348960]	uncertain significance	10	96201023	96201023	Human	1	name , alternate_id
126774571	CV1029900	single nucleotide variant	NM_013314.4(BLNK):c.509G>A (p.Gly170Asp)	Agammaglobulinemia 4, autosomal recessive [RCV001347381]	uncertain significance	10	96223842	96223842	Human	1	name , alternate_id
126924419	CV1046874	single nucleotide variant	NM_013314.4(BLNK):c.463G>T (p.Ala155Ser)	Agammaglobulinemia 4, autosomal recessive [RCV001367010]	uncertain significance	10	96223888	96223888	Human	1	name , alternate_id
127266111	CV1062050	deletion	NM_013314.4(BLNK):c.1031del (p.Lys344fs)	Agammaglobulinemia 4, autosomal recessive [RCV001388635]	pathogenic	10	96200139	96200139	Human	1	name , alternate_id
127337264	CV1120876	single nucleotide variant	NM_013314.4(BLNK):c.628A>G (p.Thr210Ala)	Agammaglobulinemia 4, autosomal recessive [RCV001475543]	likely benign	10	96215369	96215369	Human	1	name , alternate_id
127288126	CV1152443	single nucleotide variant	NM_013314.4(BLNK):c.998C>G (p.Thr333Ser)	not provided [RCV001508299]	uncertain significance	10	96200995	96200995	Human		name
150509470	CV1213138	deletion	NM_013314.4(BLNK):c.1252-234_1252-231del	not provided [RCV001596829]	benign	10	96192323	96192326	Human		name
151840180	CV1345810	single nucleotide variant	NM_013314.4(BLNK):c.812G>A (p.Cys271Tyr)	Agammaglobulinemia 4, autosomal recessive [RCV001902742]	uncertain significance	10	96207016	96207016	Human	1	name , alternate_id
151814828	CV1349178	single nucleotide variant	NM_013314.4(BLNK):c.685A>G (p.Ser229Gly)	Agammaglobulinemia 4, autosomal recessive [RCV001918978]	uncertain significance	10	96209899	96209899	Human	1	name , alternate_id
151855144	CV1353982	single nucleotide variant	NM_013314.4(BLNK):c.395T>G (p.Phe132Cys)	Agammaglobulinemia 4, autosomal recessive [RCV001979432]	uncertain significance	10	96223956	96223956	Human	1	name , alternate_id
151862041	CV1354002	single nucleotide variant	NM_013314.4(BLNK):c.368G>T (p.Arg123Leu)	Agammaglobulinemia 4, autosomal recessive [RCV001959342]	uncertain significance	10	96223983	96223983	Human	1	name , alternate_id
151853943	CV1370797	single nucleotide variant	NM_013314.4(BLNK):c.302T>C (p.Val101Ala)	Agammaglobulinemia 4, autosomal recessive [RCV001904455]	uncertain significance	10	96227469	96227469	Human	1	name , alternate_id
151775694	CV1398797	single nucleotide variant	NM_013314.4(BLNK):c.479A>G (p.Gln160Arg)	Agammaglobulinemia 4, autosomal recessive [RCV001929957]	uncertain significance	10	96223872	96223872	Human	1	name , alternate_id
151821621	CV1418555	single nucleotide variant	NM_013314.4(BLNK):c.511C>T (p.Leu171Phe)	Agammaglobulinemia 4, autosomal recessive [RCV001954814]	uncertain significance	10	96223840	96223840	Human	1	name , alternate_id
151831784	CV1457205	single nucleotide variant	NM_013314.4(BLNK):c.517G>A (p.Glu173Lys)	Agammaglobulinemia 4, autosomal recessive [RCV001935124]	uncertain significance	10	96223834	96223834	Human	1	name , alternate_id
151808542	CV1474818	single nucleotide variant	NM_013314.4(BLNK):c.320C>T (p.Pro107Leu)	Agammaglobulinemia 4, autosomal recessive [RCV001932969]	uncertain significance	10	96227451	96227451	Human	1	name , alternate_id
151858996	CV1486512	single nucleotide variant	NM_013314.4(BLNK):c.932C>T (p.Pro311Leu)	Agammaglobulinemia 4, autosomal recessive [RCV001883686]	uncertain significance	10	96204059	96204059	Human	1	name , alternate_id
151719987	CV1505966	single nucleotide variant	NM_013314.4(BLNK):c.571C>A (p.His191Asn)	Agammaglobulinemia 4, autosomal recessive [RCV002039931]	uncertain significance	10	96216689	96216689	Human	1	name , alternate_id
151821278	CV1510760	single nucleotide variant	NM_013314.4(BLNK):c.419C>T (p.Pro140Leu)	Agammaglobulinemia 4, autosomal recessive [RCV001934168]	uncertain significance	10	96223932	96223932	Human	1	name , alternate_id
155737900	CV1774644	single nucleotide variant	NM_013314.4(BLNK):c.484C>T (p.Pro162Ser)	Agammaglobulinemia 4, autosomal recessive [RCV002302097]	uncertain significance	10	96223867	96223867	Human	1	name , alternate_id
156392252	CV1879770	single nucleotide variant	NM_013314.4(BLNK):c.647C>T (p.Thr216Met)	Agammaglobulinemia 4, autosomal recessive [RCV003068163]	uncertain significance	10	96215350	96215350	Human	1	name , alternate_id
156069562	CV1928059	single nucleotide variant	NM_013314.4(BLNK):c.719C>T (p.Ala240Val)	Agammaglobulinemia 4, autosomal recessive [RCV002638556]	likely benign	10	96209865	96209865	Human	1	name , alternate_id
156062585	CV1931120	single nucleotide variant	NM_013314.4(BLNK):c.740G>A (p.Arg247Gln)	Agammaglobulinemia 4, autosomal recessive [RCV002638336]	uncertain significance	10	96209844	96209844	Human	1	name , alternate_id
156068656	CV1952532	single nucleotide variant	NM_013314.4(BLNK):c.745G>A (p.Gly249Arg)	Agammaglobulinemia 4, autosomal recessive [RCV002569538]	uncertain significance	10	96209839	96209839	Human	1	name , alternate_id
156295975	CV1955293	single nucleotide variant	NM_013314.4(BLNK):c.893C>T (p.Pro298Leu)	Agammaglobulinemia 4, autosomal recessive [RCV002578011]	uncertain significance	10	96204541	96204541	Human	1	name , alternate_id
156379596	CV1997747	single nucleotide variant	NM_013314.4(BLNK):c.718G>A (p.Ala240Thr)	Agammaglobulinemia 4, autosomal recessive [RCV002653566]	uncertain significance	10	96209866	96209866	Human	1	name , alternate_id
156100199	CV2001020	single nucleotide variant	NM_013314.4(BLNK):c.758C>T (p.Thr253Met)	Agammaglobulinemia 4, autosomal recessive [RCV002639553]	uncertain significance	10	96207888	96207888	Human	1	name , alternate_id
156392367	CV2005908	single nucleotide variant	NM_013314.4(BLNK):c.839G>A (p.Arg280His)	Agammaglobulinemia 4, autosomal recessive [RCV002680893]	uncertain significance	10	96204595	96204595	Human	1	name , alternate_id
155936705	CV2074921	single nucleotide variant	NM_013314.4(BLNK):c.815A>C (p.Glu272Ala)	Agammaglobulinemia 4, autosomal recessive [RCV002861492]	uncertain significance	10	96207013	96207013	Human	1	name , alternate_id
156010484	CV2124544	single nucleotide variant	NM_013314.4(BLNK):c.881C>T (p.Pro294Leu)	Agammaglobulinemia 4, autosomal recessive [RCV002948237]	uncertain significance	10	96204553	96204553	Human	1	name , alternate_id
156316005	CV2130355	single nucleotide variant	NM_013314.4(BLNK):c.656C>G (p.Ser219Cys)	Agammaglobulinemia 4, autosomal recessive [RCV002962905]	uncertain significance	10	96215341	96215341	Human	1	name , alternate_id
11525935	CV247049	single nucleotide variant	NM_013314.4(BLNK):c.472G>T (p.Ala158Ser)	Agammaglobulinemia 4, autosomal recessive [RCV000999818]\|BLNK-related disorder [RCV003930021]\|not provided [RCV000514641]\|not specified [RCV000239089]	benign\|likely benign	10	96223879	96223879	Human	1	name , trait , alternate_id
402476782	CV2874088	single nucleotide variant	NM_013314.4(BLNK):c.521A>T (p.Asp174Val)	Agammaglobulinemia 4, autosomal recessive [RCV003505879]	uncertain significance	10	96223830	96223830	Human	1	name , alternate_id
402478695	CV2884812	single nucleotide variant	NM_013314.4(BLNK):c.835G>C (p.Glu279Gln)	Agammaglobulinemia 4, autosomal recessive [RCV003506203]	uncertain significance	10	96204599	96204599	Human	1	name , alternate_id
402481366	CV2898095	single nucleotide variant	NM_013314.4(BLNK):c.896C>T (p.Ala299Val)	Agammaglobulinemia 4, autosomal recessive [RCV003506524]	uncertain significance	10	96204538	96204538	Human	1	name , alternate_id
405207170	CV3149347	single nucleotide variant	NM_013314.4(BLNK):c.869C>T (p.Ala290Val)	Agammaglobulinemia 4, autosomal recessive [RCV003845257]	uncertain significance	10	96204565	96204565	Human	1	name , alternate_id
405746669	CV3294702	single nucleotide variant	NM_013314.4(BLNK):c.418C>T (p.Pro140Ser)	Inborn genetic diseases [RCV004431483]	uncertain significance	10	96223933	96223933	Human	1	name
408383674	CV3507074	single nucleotide variant	NM_013314.4(BLNK):c.426G>A (p.Trp142Ter)	BLNK-related disorder [RCV004730803]	likely pathogenic	10	96223925	96223925	Human		name , trait , alternate_id
597636620	CV3646518	single nucleotide variant	NM_013314.4(BLNK):c.665G>C (p.Gly222Ala)	Inborn genetic diseases [RCV004969943]	uncertain significance	10	96215332	96215332	Human	1	name
597636623	CV3646519	single nucleotide variant	NM_013314.4(BLNK):c.557A>G (p.Asp186Gly)	Inborn genetic diseases [RCV004969944]	uncertain significance	10	96216703	96216703	Human	1	name
597891554	CV3840153	single nucleotide variant	NM_013314.4(BLNK):c.374G>T (p.Ser125Ile)	Agammaglobulinemia 4, autosomal recessive [RCV005179852]\|Inborn genetic diseases [RCV005303516]	uncertain significance	10	96223977	96223977	Human	2	name , alternate_id
597874233	CV3846343	single nucleotide variant	NM_013314.4(BLNK):c.637A>C (p.Asn213His)	Agammaglobulinemia 4, autosomal recessive [RCV005177226]	uncertain significance	10	96215360	96215360	Human	1	name , alternate_id
598248528	CV3949659	single nucleotide variant	NM_013314.4(BLNK):c.827T>C (p.Ile276Thr)	Inborn genetic diseases [RCV005298036]	uncertain significance	10	96204607	96204607	Human	1	name
598248538	CV3949661	single nucleotide variant	NM_013314.4(BLNK):c.772A>T (p.Thr258Ser)	Inborn genetic diseases [RCV005298038]	uncertain significance	10	96207874	96207874	Human	1	name
13435744	CV433381	single nucleotide variant	NM_013314.4(BLNK):c.926C>T (p.Pro309Leu)	Agammaglobulinemia 4, autosomal recessive [RCV000694941]\|not specified [RCV000505922]	uncertain significance	10	96204065	96204065	Human	1	name , alternate_id
13445646	CV437874	single nucleotide variant	NM_013314.4(BLNK):c.923T>C (p.Ile308Thr)	Agammaglobulinemia 4, autosomal recessive [RCV001086072]\|not provided [RCV000512676]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	96204068	96204068	Human	1	name , alternate_id
13805298	CV564952	single nucleotide variant	NM_013314.4(BLNK):c.335T>C (p.Leu112Pro)	Agammaglobulinemia 4, autosomal recessive [RCV000685644]	uncertain significance	10	96227436	96227436	Human	1	name , alternate_id
13818187	CV566663	single nucleotide variant	NM_013314.4(BLNK):c.652G>A (p.Ala218Thr)	Agammaglobulinemia 4, autosomal recessive [RCV000707538]\|Inborn genetic diseases [RCV002532879]	uncertain significance	10	96215345	96215345	Human	2	name , alternate_id
14709611	CV639332	single nucleotide variant	NM_013314.4(BLNK):c.845G>A (p.Arg282Gln)	Agammaglobulinemia 4, autosomal recessive [RCV000792915]\|Inborn genetic diseases [RCV003344047]	uncertain significance	10	96204589	96204589	Human	2	name , alternate_id
14705939	CV639333	single nucleotide variant	NM_013314.4(BLNK):c.807T>G (p.Ser269Arg)	Agammaglobulinemia 4, autosomal recessive [RCV000791842]	uncertain significance	10	96207021	96207021	Human	1	name , alternate_id
14736598	CV639334	single nucleotide variant	NM_013314.4(BLNK):c.680G>A (p.Arg227Gln)	Agammaglobulinemia 4, autosomal recessive [RCV000820090]	uncertain significance	10	96209904	96209904	Human	1	name , alternate_id
14712540	CV639335	single nucleotide variant	NM_013314.4(BLNK):c.659C>T (p.Pro220Leu)	Agammaglobulinemia 4, autosomal recessive [RCV000793834]	uncertain significance	10	96215338	96215338	Human	1	name , alternate_id
14702049	CV639336	single nucleotide variant	NM_013314.4(BLNK):c.596C>G (p.Pro199Arg)	Agammaglobulinemia 4, autosomal recessive [RCV000806713]	uncertain significance	10	96216664	96216664	Human	1	name , alternate_id
8626882	CV82026	single nucleotide variant	NM_013314.3(BLNK):c.538G>A (p.Val180Ile)	Malignant melanoma [RCV000062105]	not provided	10	96216722	96216722	Human		name
8626883	CV82027	single nucleotide variant	NM_013314.3(BLNK):c.386C>T (p.Ser129Phe)	Malignant melanoma [RCV000062106]	not provided	10	96223965	96223965	Human		name
26923798	CV837533	single nucleotide variant	NM_013314.4(BLNK):c.926C>A (p.Pro309His)	Agammaglobulinemia 4, autosomal recessive [RCV001064664]	uncertain significance	10	96204065	96204065	Human	1	name , alternate_id
26903053	CV837534	single nucleotide variant	NM_013314.4(BLNK):c.829C>T (p.Pro277Ser)	Agammaglobulinemia 4, autosomal recessive [RCV001036082]	uncertain significance	10	96204605	96204605	Human	1	name , alternate_id
26903042	CV837535	single nucleotide variant	NM_013314.4(BLNK):c.746G>A (p.Gly249Glu)	Agammaglobulinemia 4, autosomal recessive [RCV001050341]	uncertain significance	10	96209838	96209838	Human	1	name , alternate_id
26922569	CV837536	single nucleotide variant	NM_013314.4(BLNK):c.611C>A (p.Pro204His)	Agammaglobulinemia 4, autosomal recessive [RCV001062330]	uncertain significance	10	96215386	96215386	Human	1	name , alternate_id
26887862	CV837537	single nucleotide variant	NM_013314.4(BLNK):c.596C>T (p.Pro199Leu)	Agammaglobulinemia 4, autosomal recessive [RCV001066868]	uncertain significance	10	96216664	96216664	Human	1	name , alternate_id
26898029	CV837538	single nucleotide variant	NM_013314.4(BLNK):c.460C>G (p.Pro154Ala)	Agammaglobulinemia 4, autosomal recessive [RCV001048769]	uncertain significance	10	96223891	96223891	Human	1	name , alternate_id
38481149	CV925988	single nucleotide variant	NM_013314.4(BLNK):c.616G>A (p.Val206Met)	Agammaglobulinemia 4, autosomal recessive [RCV001217876]	uncertain significance	10	96215381	96215381	Human	1	name , alternate_id
38483505	CV925989	single nucleotide variant	NM_013314.4(BLNK):c.544G>A (p.Val182Met)	Agammaglobulinemia 4, autosomal recessive [RCV001218980]\|Inborn genetic diseases [RCV004032343]	uncertain significance	10	96216716	96216716	Human	2	name , alternate_id
38471933	CV947162	single nucleotide variant	NM_013314.4(BLNK):c.527C>T (p.Ala176Val)	Agammaglobulinemia 4, autosomal recessive [RCV001231345]\|Inborn genetic diseases [RCV004609685]	uncertain significance	10	96216733	96216733	Human	2	name , alternate_id
126922415	CV1046872	single nucleotide variant	NM_013314.4(BLNK):c.1244G>C (p.Gly415Ala)	Agammaglobulinemia 4, autosomal recessive [RCV001364647]	uncertain significance	10	96196915	96196915	Human	1	name , alternate_id
126911589	CV1046873	single nucleotide variant	NM_013314.4(BLNK):c.1098T>G (p.Asp366Glu)	Agammaglobulinemia 4, autosomal recessive [RCV001369290]	uncertain significance	10	96197061	96197061	Human	1	name , alternate_id
127251903	CV1062049	single nucleotide variant	NM_013314.4(BLNK):c.1195C>T (p.Arg399Ter)	Agammaglobulinemia 4, autosomal recessive [RCV001385592]	pathogenic	10	96196964	96196964	Human	1	name , alternate_id
151792336	CV1354300	single nucleotide variant	NM_013314.4(BLNK):c.1027T>G (p.Cys343Gly)	Agammaglobulinemia 4, autosomal recessive [RCV001876628]	uncertain significance	10	96200143	96200143	Human	1	name , alternate_id
151782388	CV1360545	single nucleotide variant	NM_013314.4(BLNK):c.1316G>A (p.Ser439Asn)	Agammaglobulinemia 4, autosomal recessive [RCV001865087]\|Inborn genetic diseases [RCV002548721]	uncertain significance	10	96192028	96192028	Human	2	name , alternate_id
151803548	CV1375521	single nucleotide variant	NM_013314.4(BLNK):c.1115G>A (p.Arg372Gln)	Agammaglobulinemia 4, autosomal recessive [RCV001953149]	uncertain significance	10	96197044	96197044	Human	1	name , alternate_id
151847692	CV1428398	single nucleotide variant	NM_013314.4(BLNK):c.1351T>C (p.Tyr451His)	Agammaglobulinemia 4, autosomal recessive [RCV001957557]	uncertain significance	10	96191993	96191993	Human	1	name , alternate_id
151799309	CV1430107	single nucleotide variant	NM_013314.4(BLNK):c.1313A>G (p.Asp438Gly)	Agammaglobulinemia 4, autosomal recessive [RCV001990804]	uncertain significance	10	96192031	96192031	Human	1	name , alternate_id
151791442	CV1509393	single nucleotide variant	NM_013314.4(BLNK):c.1302G>T (p.Leu434Phe)	Agammaglobulinemia 4, autosomal recessive [RCV001876554]	uncertain significance	10	96192042	96192042	Human	1	name , alternate_id
156329803	CV1884262	single nucleotide variant	NM_013314.4(BLNK):c.1303G>A (p.Val435Ile)	Agammaglobulinemia 4, autosomal recessive [RCV003089722]\|Inborn genetic diseases [RCV004071967]	uncertain significance	10	96192041	96192041	Human	2	name , alternate_id
155968002	CV1888656	single nucleotide variant	NM_013314.4(BLNK):c.1291C>A (p.His431Asn)	Agammaglobulinemia 4, autosomal recessive [RCV003075036]	uncertain significance	10	96192053	96192053	Human	1	name , alternate_id
156416899	CV1970087	single nucleotide variant	NM_013314.4(BLNK):c.1351T>A (p.Tyr451Asn)	Agammaglobulinemia 4, autosomal recessive [RCV002589934]	uncertain significance	10	96191993	96191993	Human	1	name , alternate_id
156303960	CV2013615	single nucleotide variant	NM_013314.4(BLNK):c.1369T>C (p.Ter457Gln)	Agammaglobulinemia 4, autosomal recessive [RCV002716189]	uncertain significance	10	96191975	96191975	Human	1	name , alternate_id
156095241	CV2152078	single nucleotide variant	NM_013314.4(BLNK):c.1112T>C (p.Ile371Thr)	Agammaglobulinemia 4, autosomal recessive [RCV003020838]	uncertain significance	10	96197047	96197047	Human	1	name , alternate_id
156356158	CV2188855	single nucleotide variant	NM_013314.4(BLNK):c.1321A>T (p.Asn441Tyr)	Agammaglobulinemia 4, autosomal recessive [RCV003048701]\|Inborn genetic diseases [RCV005301228]	uncertain significance	10	96192023	96192023	Human	2	name , alternate_id
156189935	CV2255096	single nucleotide variant	NM_013314.4(BLNK):c.1319A>G (p.Gln440Arg)	Inborn genetic diseases [RCV002802782]	uncertain significance	10	96192025	96192025	Human	1	name
156001932	CV2257907	single nucleotide variant	NM_013314.4(BLNK):c.1034C>T (p.Pro345Leu)	Inborn genetic diseases [RCV002794591]	uncertain significance	10	96200136	96200136	Human	1	name
402471225	CV2901099	single nucleotide variant	NM_013314.4(BLNK):c.1121G>A (p.Ser374Asn)	Agammaglobulinemia 4, autosomal recessive [RCV003504616]	uncertain significance	10	96197038	96197038	Human	1	name , alternate_id
407473592	CV3427784	single nucleotide variant	NM_013314.4(BLNK):c.1130A>G (p.His377Arg)	Inborn genetic diseases [RCV004600404]	uncertain significance	10	96197029	96197029	Human	1	name
597636628	CV3646520	single nucleotide variant	NM_013314.4(BLNK):c.1138A>G (p.Lys380Glu)	Inborn genetic diseases [RCV004969945]	uncertain significance	10	96197021	96197021	Human	1	name
597927902	CV3779693	single nucleotide variant	NM_013314.4(BLNK):c.1315A>G (p.Ser439Gly)	Agammaglobulinemia 4, autosomal recessive [RCV005116222]\|Inborn genetic diseases [RCV005303491]	uncertain significance	10	96192029	96192029	Human	2	name , alternate_id
598248533	CV3949660	single nucleotide variant	NM_013314.4(BLNK):c.1264G>A (p.Val422Ile)	Inborn genetic diseases [RCV005298037]	uncertain significance	10	96192080	96192080	Human	1	name
13436862	CV433380	single nucleotide variant	NM_013314.4(BLNK):c.1114C>T (p.Arg372Trp)	Agammaglobulinemia 4, autosomal recessive [RCV001865655]\|not specified [RCV000507895]	uncertain significance	10	96197045	96197045	Human	1	name , alternate_id
13810656	CV569911	single nucleotide variant	NM_013314.4(BLNK):c.1021G>A (p.Val341Ile)	Agammaglobulinemia 4, autosomal recessive [RCV000688363]\|Inborn genetic diseases [RCV002544811]\|not provided [RCV003148826]	conflicting interpretations of pathogenicity\|uncertain significance	10	96200149	96200149	Human	2	name , alternate_id
26920593	CV837532	single nucleotide variant	NM_013314.4(BLNK):c.1106T>A (p.Phe369Tyr)	Agammaglobulinemia 4, autosomal recessive [RCV001060139]	uncertain significance	10	96197053	96197053	Human	1	name , alternate_id
8633799	CV89015	single nucleotide variant	NM_013314.4(BLNK):c.1196G>A (p.Arg399Gln)	Agammaglobulinemia 4, autosomal recessive [RCV000811125]	uncertain significance\|not provided	10	96196963	96196963	Human	1	name , alternate_id
38493900	CV956292	single nucleotide variant	NM_013314.4(BLNK):c.1033C>T (p.Pro345Ser)	Agammaglobulinemia 4, autosomal recessive [RCV001240982]\|Inborn genetic diseases [RCV002563988]	uncertain significance	10	96200137	96200137	Human	2	name , alternate_id
126728878	CV994146	single nucleotide variant	NM_013314.4(BLNK):c.1276A>T (p.Ile426Phe)	Agammaglobulinemia 4, autosomal recessive [RCV001303476]	uncertain significance	10	96192068	96192068	Human	1	name , alternate_id
151721474	CV1421036	inversion	NM_013314.4(BLNK):c.171_172inv (p.Ala58Thr)	Agammaglobulinemia 4, autosomal recessive [RCV002040144]	uncertain significance	10	96230826	96230827	Human		name , alternate_id
156019040	CV2174000	deletion	NM_013314.4(BLNK):c.616_618del (p.Val206del)	Agammaglobulinemia 4, autosomal recessive [RCV003035633]	uncertain significance	10	96215379	96215381	Human	1	name , alternate_id
126918027	CV1039151	duplication	NC_000010.10:g.(?_97366499)_(98031175_?)dup	Agammaglobulinemia 4, autosomal recessive [RCV001372414]	uncertain significance				Human	1	alternate_id
597934497	CV3858794	deletion	NC_000010.11:g.96201059del	Agammaglobulinemia 4, autosomal recessive [RCV005207264]	pathogenic	10	96201058	96201058	Human	1	alternate_id
13621379	CV525824	deletion	NC_000010.11:g.96242785del	Agammaglobulinemia 4, autosomal recessive [RCV000648342]	pathogenic	10	96242784	96242784	Human	1	alternate_id
13818840	CV563498	duplication	NC_000010.10:g.(?_97951709)_(98031175_?)dup	Agammaglobulinemia 4, autosomal recessive [RCV000707965]	uncertain significance				Human	1	alternate_id
14713978	CV652121	duplication	NC_000010.10:g.(?_98031089)_(98031175_?)dup	Agammaglobulinemia 4, autosomal recessive [RCV000794818]	uncertain significance	10	96271332	96271418	Human	1	alternate_id
26890394	CV820285	deletion	NC_000010.11:g.(?_96271332)_(96271418_?)del	Agammaglobulinemia 4, autosomal recessive [RCV001031654]	pathogenic				Human	1	alternate_id

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