Stxbp2 Variant Search Result - Rat Genome Database

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1001 records found for search term Stxbp2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11660998	CV350594	single nucleotide variant	NM_006949.4(STXBP2):c.*7G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV000372530]	uncertain significance	19	7647817	7647817	Human	1	name
11547021	CV257263	deletion	NM_006949.4(STXBP2):c.-38del	not specified [RCV000247218]	likely benign	19	7637110	7637110	Human		name
11543260	CV257293	single nucleotide variant	NM_006949.4(STXBP2):c.*12G>A	Autoinflammatory syndrome [RCV002262892]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000261409]\|not provided [RCV000421472]\|not specified [RCV000242223]	benign\|likely benign	19	7647822	7647822	Human	2	name
151784961	CV1369186	single nucleotide variant	NM_006949.4(STXBP2):c.88-3C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002046510]	uncertain significance	19	7639016	7639016	Human	1	name
151839449	CV1511614	single nucleotide variant	NM_006949.4(STXBP2):c.87+3A>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001956570]	uncertain significance	19	7638778	7638778	Human	1	name
156207231	CV2103812	single nucleotide variant	NM_006949.4(STXBP2):c.87+1G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002931913]	likely pathogenic	19	7638776	7638776	Human	1	name
11545015	CV257265	single nucleotide variant	NM_006949.4(STXBP2):c.38-7C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001519279]\|Familial hemophagocytic lymphohistiocytosis [RCV000367298]\|not provided [RCV001618443]\|not specified [RCV000244568]	benign	19	7638719	7638719	Human	2	name
401944399	CV2836653	single nucleotide variant	NM_006949.4(STXBP2):c.37+5G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003463583]	likely pathogenic	19	7637191	7637191	Human	1	name
401945448	CV2836661	single nucleotide variant	NM_006949.4(STXBP2):c.87+2T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003464653]	pathogenic\|likely pathogenic	19	7638777	7638777	Human	1	name
405051696	CV2914054	duplication	NM_006949.4(STXBP2):c.87+7dup	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531237]	benign	19	7638778	7638779	Human	1	name
597951313	CV3847148	single nucleotide variant	NM_006949.4(STXBP2):c.37+9C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005190320]	likely benign	19	7637195	7637195	Human	1	name
13837488	CV588778	single nucleotide variant	NM_006949.4(STXBP2):c.37+7G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003768238]\|not provided [RCV000733920]	likely benign\|uncertain significance	19	7637193	7637193	Human	1	name
26890124	CV852361	deletion	NM_006949.4(STXBP2):c.87+3del	Familial hemophagocytic lymphohistiocytosis 5 [RCV001067726]\|not specified [RCV004768845]	uncertain significance	19	7638778	7638778	Human	1	name
38499650	CV960930	single nucleotide variant	NM_006949.4(STXBP2):c.88-8C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV001244912]	likely benign\|uncertain significance	19	7639011	7639011	Human	1	name
127259935	CV1085115	single nucleotide variant	NM_006949.4(STXBP2):c.795-7T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV001402084]	likely benign	19	7642422	7642422	Human	1	name
127263605	CV1106836	single nucleotide variant	NM_006949.4(STXBP2):c.430-6G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001439335]	likely benign	19	7641699	7641699	Human	1	name
150338992	CV1174229	single nucleotide variant	NM_006949.4(STXBP2):c.902+5G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001542460]\|Familial hemophagocytic lymphohistiocytosis [RCV003317508]\|not provided [RCV004697135]	pathogenic\|likely pathogenic	19	7642541	7642541	Human	2	name
150456812	CV1278549	single nucleotide variant	NM_006949.4(STXBP2):c.37+64G>A	not provided [RCV001709164]\|not specified [RCV003401640]	benign	19	7637250	7637250	Human		name
151798610	CV1337214	single nucleotide variant	NM_006949.4(STXBP2):c.326-1G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002047773]	likely pathogenic	19	7640899	7640899	Human	1	name
151808986	CV1374790	single nucleotide variant	NM_006949.4(STXBP2):c.429+5G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001933006]	uncertain significance	19	7641008	7641008	Human	1	name
151746790	CV1398335	single nucleotide variant	NM_006949.4(STXBP2):c.429+4C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002042818]	uncertain significance	19	7641007	7641007	Human	1	name
151744802	CV1401642	single nucleotide variant	NM_006949.4(STXBP2):c.794+3C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV001947475]	uncertain significance	19	7642336	7642336	Human	1	name
151826799	CV1447270	single nucleotide variant	NM_006949.4(STXBP2):c.246+5C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001870139]	uncertain significance	19	7639812	7639812	Human	1	name
151719165	CV1458834	single nucleotide variant	NM_006949.4(STXBP2):c.326-5C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002003394]	likely benign\|uncertain significance	19	7640895	7640895	Human	1	name
151817841	CV1482030	single nucleotide variant	NM_006949.4(STXBP2):c.246+5C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002029594]	uncertain significance	19	7639812	7639812	Human	1	name
151816964	CV1511319	single nucleotide variant	NM_006949.4(STXBP2):c.960+6G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001954375]	uncertain significance	19	7642829	7642829	Human	1	name
152108758	CV1520097	single nucleotide variant	NM_006949.4(STXBP2):c.38-20C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002134209]	likely benign	19	7638706	7638706	Human	1	name
152091459	CV1528758	single nucleotide variant	NM_006949.4(STXBP2):c.579-5G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002094239]\|not provided [RCV004704773]	likely benign	19	7642029	7642029	Human	1	name
152108858	CV1530025	single nucleotide variant	NM_006949.4(STXBP2):c.88-12C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002196506]	likely benign	19	7639007	7639007	Human	1	name
152042934	CV1538087	single nucleotide variant	NM_006949.4(STXBP2):c.902+8C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002165925]	likely benign	19	7642544	7642544	Human	1	name
152032446	CV1549012	single nucleotide variant	NM_006949.4(STXBP2):c.170-4C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002086580]	likely benign	19	7639727	7639727	Human	1	name
152171126	CV1552596	single nucleotide variant	NM_006949.4(STXBP2):c.578+8C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002143347]	likely benign	19	7641861	7641861	Human	1	name
152168370	CV1558655	single nucleotide variant	NM_006949.4(STXBP2):c.578+9C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002142419]	likely benign	19	7641862	7641862	Human	1	name
152138926	CV1571005	single nucleotide variant	NM_006949.4(STXBP2):c.38-17C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002120086]	likely benign	19	7638709	7638709	Human	1	name
152081425	CV1589403	single nucleotide variant	NM_006949.4(STXBP2):c.579-4C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002112802]	likely benign	19	7642030	7642030	Human	1	name
152135868	CV1624638	single nucleotide variant	NM_006949.4(STXBP2):c.38-18C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002177409]	likely benign	19	7638708	7638708	Human	1	name
152040717	CV1644188	single nucleotide variant	NM_006949.4(STXBP2):c.88-11C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002126052]	likely benign	19	7639008	7639008	Human	1	name
152056265	CV1649492	single nucleotide variant	NM_006949.4(STXBP2):c.579-6C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002127815]	likely benign	19	7642028	7642028	Human	1	name
152175392	CV1663563	single nucleotide variant	NM_006949.4(STXBP2):c.960+9G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002163524]\|STXBP2-related disorder [RCV003895993]	likely benign	19	7642832	7642832	Human	1	name , alternate_id
152029909	CV1664778	single nucleotide variant	NM_006949.4(STXBP2):c.578+8C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002105748]	likely benign	19	7641861	7641861	Human	1	name
156328602	CV1881096	single nucleotide variant	NM_006949.4(STXBP2):c.578+9C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003063559]	likely benign	19	7641862	7641862	Human	1	name
156372921	CV1905693	single nucleotide variant	NM_006949.4(STXBP2):c.795-8C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003092609]	likely benign	19	7642421	7642421	Human	1	name
156161025	CV1906904	single nucleotide variant	NM_006949.4(STXBP2):c.960+8C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003082894]	likely benign	19	7642831	7642831	Human	1	name
10047670	CV190855	single nucleotide variant	NM_006949.4(STXBP2):c.795-4C>T	Autoinflammatory syndrome [RCV002262766]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000530674]\|STXBP2-related disorder [RCV003891706]\|not provided [RCV003422065]\|not specified [RCV000173826]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	7642425	7642425	Human	2	name , alternate_id
155961042	CV1912134	single nucleotide variant	NM_006949.4(STXBP2):c.325+7G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002616733]	likely benign	19	7640816	7640816	Human	1	name
156409158	CV1954679	single nucleotide variant	NM_006949.4(STXBP2):c.429+5G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002586736]	uncertain significance	19	7641008	7641008	Human	1	name
156084556	CV1956457	single nucleotide variant	NM_006949.4(STXBP2):c.429+9C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002570017]	likely benign	19	7641012	7641012	Human	1	name
156340548	CV1974070	single nucleotide variant	NM_006949.4(STXBP2):c.664-8C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002601256]	likely benign	19	7642195	7642195	Human	1	name
156004838	CV2041874	single nucleotide variant	NM_006949.4(STXBP2):c.430-7C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002756379]	likely benign	19	7641698	7641698	Human	1	name
155909007	CV2044745	single nucleotide variant	NM_006949.4(STXBP2):c.37+20C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002771445]	likely benign	19	7637206	7637206	Human	1	name
155992418	CV2049809	single nucleotide variant	NM_006949.4(STXBP2):c.429+9C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002819266]	likely benign	19	7641012	7641012	Human	1	name
156007093	CV2054382	single nucleotide variant	NM_006949.4(STXBP2):c.794+8G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002819932]	likely benign	19	7642341	7642341	Human	1	name
156295030	CV2073435	single nucleotide variant	NM_006949.4(STXBP2):c.325+6T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002833360]	uncertain significance	19	7640815	7640815	Human	1	name
156121249	CV2078033	single nucleotide variant	NM_006949.4(STXBP2):c.961-6C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002889571]	likely benign	19	7642977	7642977	Human	1	name
156252355	CV2082655	single nucleotide variant	NM_006949.4(STXBP2):c.903-8A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002876987]	likely benign	19	7642758	7642758	Human	1	name
156042009	CV2089690	single nucleotide variant	NM_006949.4(STXBP2):c.794+9A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002867477]	likely benign	19	7642342	7642342	Human	1	name
155977222	CV2100150	single nucleotide variant	NM_006949.4(STXBP2):c.902+7G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002881760]	likely benign	19	7642543	7642543	Human	1	name
156150123	CV2100261	single nucleotide variant	NM_006949.4(STXBP2):c.902+1G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002872291]	likely pathogenic	19	7642537	7642537	Human	1	name
156116999	CV2113900	single nucleotide variant	NM_006949.4(STXBP2):c.246+9A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002914009]	likely benign	19	7639816	7639816	Human	1	name
155946259	CV2130247	single nucleotide variant	NM_006949.4(STXBP2):c.247-1G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002971596]	likely pathogenic	19	7640730	7640730	Human	1	name
156080228	CV2171238	single nucleotide variant	NM_006949.4(STXBP2):c.87+16A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003020325]	likely benign	19	7638791	7638791	Human	1	name
156332850	CV2186427	single nucleotide variant	NM_006949.4(STXBP2):c.430-9C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003063796]	likely benign	19	7641696	7641696	Human	1	name
11551050	CV257264	single nucleotide variant	NM_006949.4(STXBP2):c.38-30A>C	not specified [RCV000252540]	benign	19	7638696	7638696	Human		name
401906897	CV2815336	single nucleotide variant	NM_006949.4(STXBP2):c.170-2A>G	not provided [RCV003421785]	uncertain significance	19	7639729	7639729	Human		name
401944394	CV2836654	single nucleotide variant	NM_006949.4(STXBP2):c.430-1G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003463584]	pathogenic	19	7641704	7641704	Human	1	name
401944381	CV2836659	single nucleotide variant	NM_006949.4(STXBP2):c.429+1G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003463589]	likely pathogenic	19	7641004	7641004	Human	1	name
405040007	CV2863831	single nucleotide variant	NM_006949.4(STXBP2):c.88-10A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530336]	likely benign	19	7639009	7639009	Human	1	name
405041280	CV2865418	single nucleotide variant	NM_006949.4(STXBP2):c.247-2A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530440]\|not provided [RCV005409938]	likely pathogenic	19	7640729	7640729	Human	1	name
405043095	CV2878171	single nucleotide variant	NM_006949.4(STXBP2):c.960+8C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530586]	likely benign	19	7642831	7642831	Human	1	name
405046091	CV2881902	single nucleotide variant	NM_006949.4(STXBP2):c.961-6C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530794]	likely benign	19	7642977	7642977	Human	1	name
405046860	CV2883488	single nucleotide variant	NM_006949.4(STXBP2):c.37+15G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530874]	likely benign	19	7637201	7637201	Human	1	name
405047540	CV2894602	single nucleotide variant	NM_006949.4(STXBP2):c.429+1G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530927]	likely pathogenic	19	7641004	7641004	Human	1	name
405050588	CV2908379	single nucleotide variant	NM_006949.4(STXBP2):c.87+15G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531154]	likely benign	19	7638790	7638790	Human	1	name
405052772	CV2910751	single nucleotide variant	NM_006949.4(STXBP2):c.579-7C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531317]	likely benign	19	7642027	7642027	Human	1	name
405052441	CV2914628	single nucleotide variant	NM_006949.4(STXBP2):c.247-4C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531292]	likely benign	19	7640727	7640727	Human	1	name
402504654	CV2945483	single nucleotide variant	NM_006949.4(STXBP2):c.664-7A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645420]	likely benign	19	7642196	7642196	Human	1	name
402505103	CV2955506	single nucleotide variant	NM_006949.4(STXBP2):c.961-4C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645464]	likely benign	19	7642979	7642979	Human	1	name
402505959	CV2969483	single nucleotide variant	NM_006949.4(STXBP2):c.960+4G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645550]	uncertain significance	19	7642827	7642827	Human	1	name
402505285	CV2973670	single nucleotide variant	NM_006949.4(STXBP2):c.37+18G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645484]	likely benign	19	7637204	7637204	Human	1	name
402507545	CV2979455	single nucleotide variant	NM_006949.4(STXBP2):c.87+19G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645706]	likely benign	19	7638794	7638794	Human	1	name
402506532	CV2980868	single nucleotide variant	NM_006949.4(STXBP2):c.246+1G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645606]	likely pathogenic	19	7639808	7639808	Human	1	name
402507033	CV2988576	single nucleotide variant	NM_006949.4(STXBP2):c.903-5G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645654]	likely benign	19	7642761	7642761	Human	1	name
402508486	CV2995754	single nucleotide variant	NM_006949.4(STXBP2):c.960+1G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645803]	likely pathogenic	19	7642824	7642824	Human	1	name
402508081	CV3001552	single nucleotide variant	NM_006949.4(STXBP2):c.37+20C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645784]	likely benign	19	7637206	7637206	Human	1	name
402498439	CV3007602	single nucleotide variant	NM_006949.4(STXBP2):c.579-8C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644625]	likely benign	19	7642026	7642026	Human	1	name
402499669	CV3041764	single nucleotide variant	NM_006949.4(STXBP2):c.37+15G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644746]	likely benign	19	7637201	7637201	Human	1	name
402499797	CV3042598	single nucleotide variant	NM_006949.4(STXBP2):c.37+19C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644758]	likely benign	19	7637205	7637205	Human	1	name
402500138	CV3066781	single nucleotide variant	NM_006949.4(STXBP2):c.663+9G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644792]	likely benign	19	7642127	7642127	Human	1	name
402500610	CV3070859	single nucleotide variant	NM_006949.4(STXBP2):c.37+14C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644843]	likely benign	19	7637200	7637200	Human	1	name
405023649	CV3139368	single nucleotide variant	NM_006949.4(STXBP2):c.663+7G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003830011]	likely benign	19	7642125	7642125	Human	1	name
405205584	CV3144254	single nucleotide variant	NM_006949.4(STXBP2):c.663+8G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003845044]	likely benign	19	7642126	7642126	Human	1	name
405136320	CV3164342	single nucleotide variant	NM_006949.4(STXBP2):c.664-9C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003855137]	likely benign	19	7642194	7642194	Human	1	name
405266265	CV3201869	single nucleotide variant	NM_006949.4(STXBP2):c.578+7A>C	STXBP2-related disorder [RCV003911359]	likely benign	19	7641860	7641860	Human		name , trait , alternate_id
405290658	CV3207610	deletion	NM_006949.4(STXBP2):c.578+7del	STXBP2-related disorder [RCV003927177]	likely benign	19	7641860	7641860	Human		name , trait , alternate_id
405869813	CV3399539	single nucleotide variant	NM_006949.4(STXBP2):c.578+2T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV004573684]	likely pathogenic	19	7641855	7641855	Human	1	name
597899895	CV3740990	single nucleotide variant	NM_006949.4(STXBP2):c.663+8G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV005072153]	likely benign	19	7642126	7642126	Human	1	name
597877151	CV3776106	deletion	NM_006949.4(STXBP2):c.429+9del	Familial hemophagocytic lymphohistiocytosis 5 [RCV005123634]	likely benign	19	7641010	7641010	Human	1	name
597958752	CV3814914	deletion	NM_006949.4(STXBP2):c.87+20del	Familial hemophagocytic lymphohistiocytosis 5 [RCV005163039]	likely benign	19	7638795	7638795	Human	1	name
597971000	CV3832707	single nucleotide variant	NM_006949.4(STXBP2):c.663+6G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005166786]	uncertain significance	19	7642124	7642124	Human	1	name
597857632	CV3850098	single nucleotide variant	NM_006949.4(STXBP2):c.87+12G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV005195430]	likely benign	19	7638787	7638787	Human	1	name
597930034	CV3862290	single nucleotide variant	NM_006949.4(STXBP2):c.37+17G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV005206532]	likely benign	19	7637203	7637203	Human	1	name
13487572	CV446200	single nucleotide variant	NM_006949.4(STXBP2):c.169+2T>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003464116]\|not provided [RCV000523271]	pathogenic\|likely pathogenic	19	7639102	7639102	Human	1	name
15128536	CV760934	single nucleotide variant	NM_006949.4(STXBP2):c.325+9G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001412199]	likely benign	19	7640818	7640818	Human	1	name
26922981	CV851838	single nucleotide variant	NM_006949.4(STXBP2):c.247-2A>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV001063093]\|Familial hemophagocytic lymphohistiocytosis [RCV002307673]	likely pathogenic	19	7640729	7640729	Human	2	name
38492370	CV941249	single nucleotide variant	NM_006949.4(STXBP2):c.795-3C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001223540]	uncertain significance	19	7642426	7642426	Human	1	name
38473021	CV960307	single nucleotide variant	NM_006949.4(STXBP2):c.664-6C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001231727]	likely benign\|uncertain significance	19	7642197	7642197	Human	1	name
38496424	CV960931	single nucleotide variant	NM_006949.4(STXBP2):c.902+4C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001242551]\|not specified [RCV003323830]	uncertain significance	19	7642540	7642540	Human	1	name
126913252	CV1051578	single nucleotide variant	NM_006949.4(STXBP2):c.1356+4C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001370033]	uncertain significance	19	7645310	7645310	Human	1	name
127259592	CV1085118	single nucleotide variant	NM_006949.4(STXBP2):c.1108-8G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001419852]	likely benign	19	7644606	7644606	Human	1	name
127234368	CV1085119	single nucleotide variant	NM_006949.4(STXBP2):c.1108-5C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001414194]	likely benign	19	7644609	7644609	Human	1	name
127242884	CV1085120	single nucleotide variant	NM_006949.4(STXBP2):c.1108-4G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001416032]\|STXBP2-related disorder [RCV003920907]	likely benign	19	7644610	7644610	Human	1	name , alternate_id
127265966	CV1106840	single nucleotide variant	NM_006949.4(STXBP2):c.1107+9G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV001440120]	likely benign	19	7643254	7643254	Human	1	name
127296916	CV1128258	single nucleotide variant	NM_006949.4(STXBP2):c.902+20G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001452890]	likely benign	19	7642556	7642556	Human	1	name
127323520	CV1149191	single nucleotide variant	NM_006949.4(STXBP2):c.794+20G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001505462]	likely benign	19	7642353	7642353	Human	1	name
127296082	CV1158720	single nucleotide variant	NM_006949.4(STXBP2):c.246+18C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001512420]	benign	19	7639825	7639825	Human	1	name
127300093	CV1158722	deletion	NM_006949.4(STXBP2):c.663+19del	Familial hemophagocytic lymphohistiocytosis 5 [RCV001513974]\|STXBP2-related disorder [RCV003940916]	benign	19	7642135	7642135	Human	1	name , alternate_id
151780612	CV1357620	single nucleotide variant	NM_006949.4(STXBP2):c.1246+8G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001875322]	likely benign\|uncertain significance	19	7644760	7644760	Human	1	name
151787068	CV1368763	single nucleotide variant	NM_006949.4(STXBP2):c.1246+4G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001989690]	uncertain significance	19	7644756	7644756	Human	1	name
151720780	CV1396736	single nucleotide variant	NM_006949.4(STXBP2):c.1697-3C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV001891063]	uncertain significance	19	7647722	7647722	Human	1	name
151856455	CV1401881	single nucleotide variant	NM_006949.4(STXBP2):c.1356+4C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002017238]	uncertain significance	19	7645310	7645310	Human	1	name
151886078	CV1418486	single nucleotide variant	NM_006949.4(STXBP2):c.1108-3C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001887484]	uncertain significance	19	7644611	7644611	Human	1	name
151807023	CV1449974	single nucleotide variant	NM_006949.4(STXBP2):c.903-10T>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV001899592]	uncertain significance	19	7642756	7642756	Human	1	name
151868277	CV1516605	single nucleotide variant	NM_006949.4(STXBP2):c.1356+5G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001980977]\|not specified [RCV003235649]	uncertain significance	19	7645311	7645311	Human	1	name
152057964	CV1523275	single nucleotide variant	NM_006949.4(STXBP2):c.1357-4G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002167674]	likely benign	19	7646245	7646245	Human	1	name
152046806	CV1527242	single nucleotide variant	NM_006949.4(STXBP2):c.664-20T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002166368]	likely benign	19	7642183	7642183	Human	1	name
152124129	CV1527623	single nucleotide variant	NM_006949.4(STXBP2):c.1453-8G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002081974]	likely benign	19	7647154	7647154	Human	1	name
152126844	CV1528121	single nucleotide variant	NM_006949.4(STXBP2):c.960+15A>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002098935]	likely benign	19	7642838	7642838	Human	1	name
152139626	CV1533606	single nucleotide variant	NM_006949.4(STXBP2):c.1108-9T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002083982]	likely benign	19	7644605	7644605	Human	1	name
152167201	CV1535001	single nucleotide variant	NM_006949.4(STXBP2):c.326-15C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002160809]	likely benign	19	7640885	7640885	Human	1	name
152137149	CV1538032	single nucleotide variant	NM_006949.4(STXBP2):c.578+12A>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002177572]	likely benign	19	7641865	7641865	Human	1	name
152151257	CV1550122	single nucleotide variant	NM_006949.4(STXBP2):c.902+17A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002202002]	likely benign	19	7642553	7642553	Human	1	name
152129311	CV1554612	single nucleotide variant	NM_006949.4(STXBP2):c.664-13A>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002176584]	likely benign	19	7642190	7642190	Human	1	name
152085070	CV1555006	single nucleotide variant	NM_006949.4(STXBP2):c.326-11C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002211933]	likely benign	19	7640889	7640889	Human	1	name
152154532	CV1556405	single nucleotide variant	NM_006949.4(STXBP2):c.429+10G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002122229]	likely benign	19	7641013	7641013	Human	1	name
152124331	CV1563161	single nucleotide variant	NM_006949.4(STXBP2):c.961-14C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002118248]	likely benign	19	7642969	7642969	Human	1	name
152086251	CV1573854	single nucleotide variant	NM_006949.4(STXBP2):c.1453-8G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002149966]	likely benign	19	7647154	7647154	Human	1	name
152072800	CV1574517	single nucleotide variant	NM_006949.4(STXBP2):c.170-12T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002192010]	likely benign	19	7639719	7639719	Human	1	name
152083626	CV1576856	single nucleotide variant	NM_006949.4(STXBP2):c.902+11A>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002193344]	likely benign	19	7642547	7642547	Human	1	name
152035270	CV1583007	single nucleotide variant	NM_006949.4(STXBP2):c.169+13G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002106880]	likely benign	19	7639113	7639113	Human	1	name
152173206	CV1589734	single nucleotide variant	NM_006949.4(STXBP2):c.902+12C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002184097]	likely benign	19	7642548	7642548	Human	1	name
152072032	CV1591735	single nucleotide variant	NM_006949.4(STXBP2):c.903-20C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002210104]	likely benign	19	7642746	7642746	Human	1	name
152138339	CV1603899	single nucleotide variant	NM_006949.4(STXBP2):c.169+10C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002219031]	likely benign	19	7639110	7639110	Human	1	name
152151046	CV1605581	deletion	NM_006949.4(STXBP2):c.960+11del	Familial hemophagocytic lymphohistiocytosis 5 [RCV002102233]	likely benign	19	7642834	7642834	Human	1	name
152113395	CV1605826	single nucleotide variant	NM_006949.4(STXBP2):c.664-19G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002116855]	likely benign	19	7642184	7642184	Human	1	name
152165917	CV1611476	single nucleotide variant	NM_006949.4(STXBP2):c.795-16C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002141815]	likely benign	19	7642413	7642413	Human	1	name
152069098	CV1613907	single nucleotide variant	NM_006949.4(STXBP2):c.903-19C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002074853]	likely benign	19	7642747	7642747	Human	1	name
152049893	CV1618674	single nucleotide variant	NM_006949.4(STXBP2):c.579-20G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002166738]	likely benign	19	7642014	7642014	Human	1	name
152112902	CV1623762	single nucleotide variant	NM_006949.4(STXBP2):c.960+18T>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002134718]\|not specified [RCV004700636]	benign\|likely benign	19	7642841	7642841	Human	1	name
152136772	CV1625379	single nucleotide variant	NM_006949.4(STXBP2):c.902+19C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002137643]	likely benign	19	7642555	7642555	Human	1	name
152132315	CV1630080	single nucleotide variant	NM_006949.4(STXBP2):c.246+17G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002176963]	likely benign	19	7639824	7639824	Human	1	name
152090093	CV1634110	single nucleotide variant	NM_006949.4(STXBP2):c.1026+8C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002194182]	likely benign	19	7643056	7643056	Human	1	name
152142658	CV1639312	single nucleotide variant	NM_006949.4(STXBP2):c.903-18G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002178263]	likely benign	19	7642748	7642748	Human	1	name
152126674	CV1641958	single nucleotide variant	NM_006949.4(STXBP2):c.247-14T>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002176263]	likely benign	19	7640717	7640717	Human	1	name
152032328	CV1643059	single nucleotide variant	NM_006949.4(STXBP2):c.663+11G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002204948]\|STXBP2-related disorder [RCV003913588]	likely benign	19	7642129	7642129	Human	1	name , alternate_id
152100995	CV1645715	single nucleotide variant	NM_006949.4(STXBP2):c.795-19C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002173099]	likely benign	19	7642410	7642410	Human	1	name
152129172	CV1650532	single nucleotide variant	NM_006949.4(STXBP2):c.430-12C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002118848]	likely benign	19	7641693	7641693	Human	1	name
152173238	CV1652993	single nucleotide variant	NM_006949.4(STXBP2):c.960+14C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002144043]	likely benign	19	7642837	7642837	Human	1	name
156181080	CV1868356	single nucleotide variant	NM_006949.4(STXBP2):c.1452+1G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003041346]	pathogenic\|likely pathogenic	19	7646345	7646345	Human	1	name
156391339	CV1879567	single nucleotide variant	NM_006949.4(STXBP2):c.170-18T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003068061]	likely benign	19	7639713	7639713	Human	1	name
156077050	CV1886456	single nucleotide variant	NM_006949.4(STXBP2):c.430-19C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003079740]	likely benign	19	7641686	7641686	Human	1	name
156355829	CV1930205	single nucleotide variant	NM_006949.4(STXBP2):c.902+13G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002651268]	likely benign	19	7642549	7642549	Human	1	name
156304909	CV1931255	single nucleotide variant	NM_006949.4(STXBP2):c.663+10C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002647836]	likely benign	19	7642128	7642128	Human	1	name
156349052	CV1954953	single nucleotide variant	NM_006949.4(STXBP2):c.325+20G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002580924]	likely benign	19	7640829	7640829	Human	1	name
156375350	CV1960151	single nucleotide variant	NM_006949.4(STXBP2):c.1538+6G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002582755]	uncertain significance	19	7647253	7647253	Human	1	name
156395499	CV1980370	single nucleotide variant	NM_006949.4(STXBP2):c.429+13C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002605097]	likely benign	19	7641016	7641016	Human	1	name
156013578	CV1986139	single nucleotide variant	NM_006949.4(STXBP2):c.247-18G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002636348]	likely benign	19	7640713	7640713	Human	1	name
156415277	CV1990917	single nucleotide variant	NM_006949.4(STXBP2):c.902+11A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002609591]	likely benign	19	7642547	7642547	Human	1	name
155942945	CV2002771	single nucleotide variant	NM_006949.4(STXBP2):c.430-10C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002685580]	likely benign	19	7641695	7641695	Human	1	name
156099510	CV2009659	single nucleotide variant	NM_006949.4(STXBP2):c.170-11G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002706614]	likely benign	19	7639720	7639720	Human	1	name
155909459	CV2017540	single nucleotide variant	NM_006949.4(STXBP2):c.903-13C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002681607]	likely benign	19	7642753	7642753	Human	1	name
156256170	CV2025943	single nucleotide variant	NM_006949.4(STXBP2):c.579-12C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002746154]	likely benign	19	7642022	7642022	Human	1	name
156174121	CV2026551	single nucleotide variant	NM_006949.4(STXBP2):c.961-15C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002765409]	likely benign	19	7642968	7642968	Human	1	name
156214991	CV2047485	single nucleotide variant	NM_006949.4(STXBP2):c.664-11C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002790397]	likely benign	19	7642192	7642192	Human	1	name
156243408	CV2053215	single nucleotide variant	NM_006949.4(STXBP2):c.1026+2T>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002791434]	likely pathogenic	19	7643050	7643050	Human	1	name
156246414	CV2053342	deletion	NM_006949.4(STXBP2):c.169+18del	Familial hemophagocytic lymphohistiocytosis 5 [RCV002791537]	benign	19	7639115	7639115	Human	1	name
156062063	CV2065419	single nucleotide variant	NM_006949.4(STXBP2):c.169+20G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002846809]	likely benign	19	7639120	7639120	Human	1	name
156203145	CV2076575	single nucleotide variant	NM_006949.4(STXBP2):c.794+17C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002852539]	likely benign	19	7642350	7642350	Human	1	name
156305085	CV2079738	single nucleotide variant	NM_006949.4(STXBP2):c.430-13C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002857367]	likely benign	19	7641692	7641692	Human	1	name
156137661	CV2082118	single nucleotide variant	NM_006949.4(STXBP2):c.579-11C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002871870]	likely benign	19	7642023	7642023	Human	1	name
156115052	CV2084839	single nucleotide variant	NM_006949.4(STXBP2):c.1108-4G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002889339]	likely benign	19	7644610	7644610	Human	1	name
156222251	CV2088918	single nucleotide variant	NM_006949.4(STXBP2):c.429+11G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002894230]	likely benign	19	7641014	7641014	Human	1	name
156041345	CV2089661	single nucleotide variant	NM_006949.4(STXBP2):c.1247-9G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002867453]	likely benign	19	7645188	7645188	Human	1	name
156322438	CV2101137	single nucleotide variant	NM_006949.4(STXBP2):c.169+16C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002899395]	likely benign	19	7639116	7639116	Human	1	name
156000188	CV2106711	single nucleotide variant	NM_006949.4(STXBP2):c.1027-7C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002947748]	likely benign	19	7643158	7643158	Human	1	name
156039891	CV2121416	single nucleotide variant	NM_006949.4(STXBP2):c.430-14C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002923871]	uncertain significance	19	7641691	7641691	Human	1	name
156278203	CV2137389	single nucleotide variant	NM_006949.4(STXBP2):c.1357-7C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003009504]	uncertain significance	19	7646242	7646242	Human	1	name
156020744	CV2147999	single nucleotide variant	NM_006949.4(STXBP2):c.1107+3G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003018216]	uncertain significance	19	7643248	7643248	Human	1	name
156236378	CV2176809	single nucleotide variant	NM_006949.4(STXBP2):c.1107+6G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003043282]	uncertain significance	19	7643251	7643251	Human	1	name
156273303	CV2187537	single nucleotide variant	NM_006949.4(STXBP2):c.663+19G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003044529]	likely benign	19	7642137	7642137	Human	1	name
11543623	CV257268	single nucleotide variant	NM_006949.4(STXBP2):c.169+12C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001509930]\|not provided [RCV004717120]\|not specified [RCV000242709]	benign	19	7639112	7639112	Human	1	name
11547782	CV257271	single nucleotide variant	NM_006949.4(STXBP2):c.663+10C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002518637]\|not specified [RCV000248218]	likely benign	19	7642128	7642128	Human	1	name
401907018	CV2795766	duplication	NM_006949.4(STXBP2):c.902+32dup	not specified [RCV003397118]	benign	19	7642559	7642560	Human		name
401924925	CV2805063	single nucleotide variant	NM_006949.4(STXBP2):c.429+18C>G	not specified [RCV003404882]	likely benign	19	7641021	7641021	Human		name
401947713	CV2836665	single nucleotide variant	NM_006949.4(STXBP2):c.1107+2T>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003466424]	likely pathogenic	19	7643247	7643247	Human	1	name
401947715	CV2836666	single nucleotide variant	NM_006949.4(STXBP2):c.1356+1G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003466425]	likely pathogenic	19	7645307	7645307	Human	1	name
401947717	CV2836667	single nucleotide variant	NM_006949.4(STXBP2):c.1538+1G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003466426]	likely pathogenic	19	7647248	7647248	Human	1	name
405041033	CV2858537	single nucleotide variant	NM_006949.4(STXBP2):c.795-15C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530420]	likely benign	19	7642414	7642414	Human	1	name
405040908	CV2865034	single nucleotide variant	NM_006949.4(STXBP2):c.170-13C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530409]	likely benign	19	7639718	7639718	Human	1	name
405041273	CV2865355	single nucleotide variant	NM_006949.4(STXBP2):c.429+11G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530439]	likely benign	19	7641014	7641014	Human	1	name
405043787	CV2868259	single nucleotide variant	NM_006949.4(STXBP2):c.429+16A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530633]	likely benign	19	7641019	7641019	Human	1	name
405044494	CV2869117	single nucleotide variant	NM_006949.4(STXBP2):c.663+12T>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530687]	likely benign	19	7642130	7642130	Human	1	name
405043342	CV2871234	single nucleotide variant	NM_006949.4(STXBP2):c.960+16G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530603]	likely benign	19	7642839	7642839	Human	1	name
405044653	CV2872904	single nucleotide variant	NM_006949.4(STXBP2):c.578+16A>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530699]	likely benign	19	7641869	7641869	Human	1	name
405044640	CV2876691	single nucleotide variant	NM_006949.4(STXBP2):c.1453-9G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530698]	likely benign	19	7647153	7647153	Human	1	name
405044874	CV2880286	single nucleotide variant	NM_006949.4(STXBP2):c.1247-7C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530714]	likely benign	19	7645190	7645190	Human	1	name
405046881	CV2893772	single nucleotide variant	NM_006949.4(STXBP2):c.326-31G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530876]	likely benign	19	7640869	7640869	Human	1	name
405048821	CV2900735	single nucleotide variant	NM_006949.4(STXBP2):c.1027-4G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531048]	likely benign	19	7643161	7643161	Human	1	name
405047982	CV2905342	single nucleotide variant	NM_006949.4(STXBP2):c.1696+1G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530961]	uncertain significance	19	7647512	7647512	Human	1	name
405051491	CV2919904	single nucleotide variant	NM_006949.4(STXBP2):c.960+14C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531222]	likely benign	19	7642837	7642837	Human	1	name
405035760	CV2922988	single nucleotide variant	NM_006949.4(STXBP2):c.960+14C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003529830]	likely benign	19	7642837	7642837	Human	1	name
405053547	CV2925593	single nucleotide variant	NM_006949.4(STXBP2):c.961-13C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531376]	likely benign	19	7642970	7642970	Human	1	name
402504597	CV2938262	single nucleotide variant	NM_006949.4(STXBP2):c.1026+1G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645414]	likely pathogenic	19	7643049	7643049	Human	1	name
402504646	CV2938447	single nucleotide variant	NM_006949.4(STXBP2):c.429+15C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645419]	likely benign	19	7641018	7641018	Human	1	name
402504745	CV2939209	single nucleotide variant	NM_006949.4(STXBP2):c.170-16C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645428]	likely benign	19	7639715	7639715	Human	1	name
402504438	CV2940069	single nucleotide variant	NM_006949.4(STXBP2):c.578+18C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645399]	likely benign	19	7641871	7641871	Human	1	name
402504665	CV2945599	single nucleotide variant	NM_006949.4(STXBP2):c.794+10C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645421]	likely benign	19	7642343	7642343	Human	1	name
402504680	CV2948896	single nucleotide variant	NM_006949.4(STXBP2):c.1538+9C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645423]	likely benign	19	7647256	7647256	Human	1	name
402504882	CV2953699	single nucleotide variant	NM_006949.4(STXBP2):c.1027-8C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645441]	likely benign	19	7643157	7643157	Human	1	name
402505093	CV2955315	single nucleotide variant	NM_006949.4(STXBP2):c.961-18T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645463]	likely benign	19	7642965	7642965	Human	1	name
402505114	CV2955508	single nucleotide variant	NM_006949.4(STXBP2):c.1538+7C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645465]	likely benign	19	7647254	7647254	Human	1	name
402505196	CV2956046	single nucleotide variant	NM_006949.4(STXBP2):c.1539-5C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645474]	likely benign	19	7647349	7647349	Human	1	name
402505159	CV2959361	single nucleotide variant	NM_006949.4(STXBP2):c.903-15C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645470]	likely benign	19	7642751	7642751	Human	1	name
402505012	CV2961582	single nucleotide variant	NM_006949.4(STXBP2):c.430-17G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645454]	likely benign	19	7641688	7641688	Human	1	name
402505340	CV2967425	single nucleotide variant	NM_006949.4(STXBP2):c.170-15C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645489]	likely benign	19	7639716	7639716	Human	1	name
402505662	CV2968783	single nucleotide variant	NM_006949.4(STXBP2):c.794+20G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645520]	likely benign	19	7642353	7642353	Human	1	name
402507302	CV2982275	single nucleotide variant	NM_006949.4(STXBP2):c.326-29C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645681]	likely benign	19	7640871	7640871	Human	1	name
402507841	CV2983815	single nucleotide variant	NM_006949.4(STXBP2):c.169+15C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645736]	likely benign	19	7639115	7639115	Human	1	name
402507469	CV2986375	single nucleotide variant	NM_006949.4(STXBP2):c.794+17C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645698]	likely benign	19	7642350	7642350	Human	1	name
402507772	CV2986926	single nucleotide variant	NM_006949.4(STXBP2):c.1357-6C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645728]	likely benign	19	7646243	7646243	Human	1	name
402508495	CV2992168	single nucleotide variant	NM_006949.4(STXBP2):c.960+13C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645804]	likely benign	19	7642836	7642836	Human	1	name
402508678	CV2992785	single nucleotide variant	NM_006949.4(STXBP2):c.903-11C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645825]	likely benign	19	7642755	7642755	Human	1	name
402508114	CV2998706	single nucleotide variant	NM_006949.4(STXBP2):c.1108-1G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645787]	likely pathogenic	19	7644613	7644613	Human	1	name
402498449	CV3017673	single nucleotide variant	NM_006949.4(STXBP2):c.169+11G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644626]	likely benign	19	7639111	7639111	Human	1	name
402498985	CV3019161	single nucleotide variant	NM_006949.4(STXBP2):c.578+17G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644679]	likely benign	19	7641870	7641870	Human	1	name
402498809	CV3022543	single nucleotide variant	NM_006949.4(STXBP2):c.1697-4A>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644662]	likely benign	19	7647721	7647721	Human	1	name
402498484	CV3024855	single nucleotide variant	NM_006949.4(STXBP2):c.1107+1G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644630]	likely pathogenic	19	7643246	7643246	Human	1	name
402499500	CV3031271	single nucleotide variant	NM_006949.4(STXBP2):c.960+11A>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644729]	likely benign	19	7642834	7642834	Human	1	name
402499777	CV3033797	single nucleotide variant	NM_006949.4(STXBP2):c.903-18G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644756]	likely benign	19	7642748	7642748	Human	1	name
402499806	CV3039863	single nucleotide variant	NM_006949.4(STXBP2):c.1696+9C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644759]	likely benign	19	7647520	7647520	Human	1	name
402499640	CV3041180	single nucleotide variant	NM_006949.4(STXBP2):c.902+15G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644743]	likely benign	19	7642551	7642551	Human	1	name
402500015	CV3048411	single nucleotide variant	NM_006949.4(STXBP2):c.903-11C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644781]	likely benign	19	7642755	7642755	Human	1	name
402500053	CV3048955	single nucleotide variant	NM_006949.4(STXBP2):c.795-20G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644785]	likely benign	19	7642409	7642409	Human	1	name
402499964	CV3054580	single nucleotide variant	NM_006949.4(STXBP2):c.1357-4G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644776]	likely benign	19	7646245	7646245	Human	1	name
402500205	CV3057487	single nucleotide variant	NM_006949.4(STXBP2):c.1356+1G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644799]	likely pathogenic	19	7645307	7645307	Human	1	name
402500281	CV3064574	single nucleotide variant	NM_006949.4(STXBP2):c.246+15G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644808]	likely benign	19	7639822	7639822	Human	1	name
402500486	CV3066544	single nucleotide variant	NM_006949.4(STXBP2):c.326-12G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644830]	likely benign	19	7640888	7640888	Human	1	name
402500495	CV3066551	single nucleotide variant	NM_006949.4(STXBP2):c.246+19G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644831]	likely benign	19	7639826	7639826	Human	1	name
402500811	CV3077317	single nucleotide variant	NM_006949.4(STXBP2):c.430-15C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644862]	likely benign	19	7641690	7641690	Human	1	name
405121703	CV3116567	deletion	NM_006949.4(STXBP2):c.170-15del	Familial hemophagocytic lymphohistiocytosis 5 [RCV003814869]	likely benign	19	7639715	7639715	Human	1	name
405212041	CV3142611	single nucleotide variant	NM_006949.4(STXBP2):c.961-16C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003845968]	likely benign	19	7642967	7642967	Human	1	name
405220877	CV3154389	single nucleotide variant	NM_006949.4(STXBP2):c.1026+8C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003847081]	likely benign	19	7643056	7643056	Human	1	name
405239446	CV3165923	single nucleotide variant	NM_006949.4(STXBP2):c.794+19C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003866935]	likely benign	19	7642352	7642352	Human	1	name
404989528	CV3179912	single nucleotide variant	NM_006949.4(STXBP2):c.1539-2A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003881390]	likely pathogenic	19	7647352	7647352	Human	1	name
405869811	CV3399537	single nucleotide variant	NM_006949.4(STXBP2):c.1538+2T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV004573682]	likely pathogenic	19	7647249	7647249	Human	1	name
11630484	CV349580	single nucleotide variant	NM_006949.4(STXBP2):c.1247-1G>C	Autoinflammatory syndrome [RCV002263594]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000700702]\|Familial hemophagocytic lymphohistiocytosis [RCV000351372]\|HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE [RCV001613072]\|not provided [RCV001267959]	pathogenic	19	7645196	7645196	Human	3	name
11661655	CV350588	duplication	NM_006949.4(STXBP2):c.578+11dup	Familial hemophagocytic lymphohistiocytosis [RCV000378767]	uncertain significance	19	7641860	7641861	Human	1	name
597849529	CV3761689	single nucleotide variant	NM_006949.4(STXBP2):c.579-16C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005087785]	likely benign	19	7642018	7642018	Human	1	name
597966369	CV3793991	single nucleotide variant	NM_006949.4(STXBP2):c.795-10T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV005140373]	likely benign	19	7642419	7642419	Human	1	name
597952389	CV3795119	single nucleotide variant	NM_006949.4(STXBP2):c.902+11A>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005136331]	likely benign	19	7642547	7642547	Human	1	name
597868941	CV3803410	single nucleotide variant	NM_006949.4(STXBP2):c.1246+7G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005148007]	likely benign	19	7644759	7644759	Human	1	name
597870088	CV3803571	single nucleotide variant	NM_006949.4(STXBP2):c.1247-4C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005148169]	likely benign	19	7645193	7645193	Human	1	name
597863357	CV3814016	single nucleotide variant	NM_006949.4(STXBP2):c.1246+8G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV005147085]	likely benign	19	7644760	7644760	Human	1	name
597959276	CV3815079	single nucleotide variant	NM_006949.4(STXBP2):c.247-10C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005163205]	likely benign	19	7640721	7640721	Human	1	name
597966117	CV3823598	single nucleotide variant	NM_006949.4(STXBP2):c.1453-7C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005165018]	likely benign	19	7647155	7647155	Human	1	name
597840655	CV3825385	single nucleotide variant	NM_006949.4(STXBP2):c.170-11G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV005172068]	likely benign	19	7639720	7639720	Human	1	name
597833288	CV3831520	single nucleotide variant	NM_006949.4(STXBP2):c.325+15C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005170722]	likely benign	19	7640824	7640824	Human	1	name
597974607	CV3831740	single nucleotide variant	NM_006949.4(STXBP2):c.326-18A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV005168679]	likely benign	19	7640882	7640882	Human	1	name
597974826	CV3831865	single nucleotide variant	NM_006949.4(STXBP2):c.325+17T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV005168804]	likely benign	19	7640826	7640826	Human	1	name
597941117	CV3846734	single nucleotide variant	NM_006949.4(STXBP2):c.246+19G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV005187842]	uncertain significance	19	7639826	7639826	Human	1	name
597914683	CV3851168	single nucleotide variant	NM_006949.4(STXBP2):c.1538+7C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005204136]	likely benign	19	7647254	7647254	Human	1	name
597901180	CV3851285	single nucleotide variant	NM_006949.4(STXBP2):c.169+15C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV005202061]	likely benign	19	7639115	7639115	Human	1	name
597926580	CV3855385	single nucleotide variant	NM_006949.4(STXBP2):c.664-13A>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV005205984]	likely benign	19	7642190	7642190	Human	1	name
13501579	CV471341	single nucleotide variant	NM_006949.4(STXBP2):c.1453-9G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV000541503]\|not specified [RCV001821570]	uncertain significance	19	7647153	7647153	Human	1	name
13620143	CV533499	single nucleotide variant	NM_006949.4(STXBP2):c.1539-5C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV000647337]	likely benign	19	7647349	7647349	Human	1	name
15197750	CV760636	single nucleotide variant	NM_006949.4(STXBP2):c.795-10T>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530116]	likely benign	19	7642419	7642419	Human	1	name
15141535	CV760637	single nucleotide variant	NM_006949.4(STXBP2):c.1247-9G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002065969]	likely benign	19	7645188	7645188	Human	1	name
15168288	CV760769	single nucleotide variant	NM_006949.4(STXBP2):c.169+10C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002066059]	likely benign	19	7639110	7639110	Human	1	name
15130986	CV760841	single nucleotide variant	NM_006949.4(STXBP2):c.1026+9G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV000920101]	likely benign	19	7643057	7643057	Human	1	name
15097671	CV760847	single nucleotide variant	NM_006949.4(STXBP2):c.1697-9C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001437228]	likely benign	19	7647716	7647716	Human	1	name
15098974	CV776642	single nucleotide variant	NM_006949.4(STXBP2):c.1452+7G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV000936394]\|STXBP2-related disorder [RCV003978102]	likely benign\|conflicting interpretations of pathogenicity	19	7646351	7646351	Human	1	name , alternate_id
15176590	CV776763	single nucleotide variant	NM_006949.4(STXBP2):c.1452+8G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001505421]	likely benign	19	7646352	7646352	Human	1	name
15110862	CV788229	single nucleotide variant	NM_006949.4(STXBP2):c.1453-5G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV000977523]	likely benign	19	7647157	7647157	Human	1	name
28881043	CV882971	single nucleotide variant	NM_006949.4(STXBP2):c.169+11G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV001136134]	conflicting interpretations of pathogenicity\|uncertain significance	19	7639111	7639111	Human	1	name
28871549	CV882972	single nucleotide variant	NM_006949.4(STXBP2):c.795-14T>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV001131834]	uncertain significance	19	7642415	7642415	Human	1	name
28871758	CV882975	single nucleotide variant	NM_006949.4(STXBP2):c.1453-6C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001131958]	conflicting interpretations of pathogenicity\|uncertain significance	19	7647156	7647156	Human	1	name
38472948	CV940495	single nucleotide variant	NM_006949.4(STXBP2):c.1026+3G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001203329]\|not specified [RCV003323814]	uncertain significance	19	7643051	7643051	Human	1	name
38497168	CV960932	single nucleotide variant	NM_006949.4(STXBP2):c.1027-3C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001243010]	uncertain significance	19	7643162	7643162	Human	1	name
127280084	CV1085117	single nucleotide variant	NM_006949.4(STXBP2):c.1108-18C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV001409577]	likely benign	19	7644596	7644596	Human	1	name
150444485	CV1233023	single nucleotide variant	NM_006949.4(STXBP2):c.1107+83G>A	not provided [RCV001645696]	benign	19	7643328	7643328	Human		name
150492337	CV1253914	single nucleotide variant	NM_006949.4(STXBP2):c.1356+77A>G	not provided [RCV001675010]\|not specified [RCV003394201]	benign	19	7645383	7645383	Human		name
150465723	CV1277286	single nucleotide variant	NM_006949.4(STXBP2):c.1696+77G>A	not provided [RCV001710580]\|not specified [RCV003401638]	benign	19	7647588	7647588	Human		name
151890589	CV1350587	single nucleotide variant	NM_006949.4(STXBP2):c.1026+16C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002038855]	uncertain significance	19	7643064	7643064	Human	1	name
151799820	CV1376899	single nucleotide variant	NM_006949.4(STXBP2):c.1452+12C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001932203]	uncertain significance	19	7646356	7646356	Human	1	name
152106624	CV1527402	single nucleotide variant	NM_006949.4(STXBP2):c.1026+17A>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002079693]	likely benign	19	7643065	7643065	Human	1	name
152088515	CV1527483	deletion	NM_006949.4(STXBP2):c.1538+14del	Familial hemophagocytic lymphohistiocytosis 5 [RCV002093846]	benign	19	7647258	7647258	Human	1	name
152027745	CV1529562	single nucleotide variant	NM_006949.4(STXBP2):c.1539-18T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002185605]	likely benign	19	7647336	7647336	Human	1	name
152125000	CV1532264	single nucleotide variant	NM_006949.4(STXBP2):c.1246+18G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002118336]	likely benign	19	7644770	7644770	Human	1	name
152026658	CV1540124	single nucleotide variant	NM_006949.4(STXBP2):c.1539-14C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002104628]	likely benign	19	7647340	7647340	Human	1	name
152029322	CV1555756	single nucleotide variant	NM_006949.4(STXBP2):c.1539-20T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002186124]	likely benign	19	7647334	7647334	Human	1	name
152050882	CV1569143	single nucleotide variant	NM_006949.4(STXBP2):c.1108-14C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002207507]	likely benign	19	7644600	7644600	Human	1	name
152100056	CV1578688	single nucleotide variant	NM_006949.4(STXBP2):c.1356+14G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002151702]	likely benign	19	7645320	7645320	Human	1	name
152149987	CV1601630	single nucleotide variant	NM_006949.4(STXBP2):c.1538+16C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002158032]	likely benign	19	7647263	7647263	Human	1	name
152076060	CV1604460	single nucleotide variant	NM_006949.4(STXBP2):c.1107+16C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002092235]	likely benign	19	7643261	7643261	Human	1	name
152106836	CV1605196	single nucleotide variant	NM_006949.4(STXBP2):c.1452+17C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002196260]	likely benign	19	7646361	7646361	Human	1	name
152137409	CV1625546	single nucleotide variant	NM_006949.4(STXBP2):c.1357-13G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002137729]\|not specified [RCV003388097]	likely benign	19	7646236	7646236	Human	1	name
152117771	CV1633731	single nucleotide variant	NM_006949.4(STXBP2):c.1538+10C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002117430]	likely benign	19	7647257	7647257	Human	1	name
152028985	CV1639858	single nucleotide variant	NM_006949.4(STXBP2):c.1107+15G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002085649]	likely benign	19	7643260	7643260	Human	1	name
152039096	CV1644346	single nucleotide variant	NM_006949.4(STXBP2):c.1357-12C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002165418]	likely benign	19	7646237	7646237	Human	1	name
152080662	CV1650182	single nucleotide variant	NM_006949.4(STXBP2):c.1107+17G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002092796]	likely benign	19	7643262	7643262	Human	1	name
152074907	CV1652837	single nucleotide variant	NM_006949.4(STXBP2):c.1026+17A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002148570]	likely benign	19	7643065	7643065	Human	1	name
152146865	CV1655982	single nucleotide variant	NM_006949.4(STXBP2):c.1027-12T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002220185]	likely benign	19	7643153	7643153	Human	1	name
152102950	CV1656658	single nucleotide variant	NM_006949.4(STXBP2):c.1538+11G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002115586]	benign	19	7647258	7647258	Human	1	name
152047361	CV1656773	single nucleotide variant	NM_006949.4(STXBP2):c.1538+11G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002126804]	likely benign	19	7647258	7647258	Human	1	name
152138054	CV1657773	single nucleotide variant	NM_006949.4(STXBP2):c.1027-19C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002177681]	likely benign	19	7643146	7643146	Human	1	name
152068797	CV1662405	single nucleotide variant	NM_006949.4(STXBP2):c.1246+16A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV002111165]	likely benign	19	7644768	7644768	Human	1	name
152026148	CV1666229	single nucleotide variant	NM_006949.4(STXBP2):c.1357-20C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002084703]	likely benign	19	7646229	7646229	Human	1	name
156110971	CV1903919	single nucleotide variant	NM_006949.4(STXBP2):c.1107+17G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003080969]	likely benign	19	7643262	7643262	Human	1	name
156299555	CV1933394	single nucleotide variant	NM_006949.4(STXBP2):c.1027-17C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002629178]	likely benign	19	7643148	7643148	Human	1	name
156180361	CV2058525	single nucleotide variant	NM_006949.4(STXBP2):c.1026+11G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002828283]	likely benign	19	7643059	7643059	Human	1	name
156222380	CV2080929	single nucleotide variant	NM_006949.4(STXBP2):c.1108-14C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002853260]	likely benign	19	7644600	7644600	Human	1	name
155953568	CV2081196	single nucleotide variant	NM_006949.4(STXBP2):c.1246+11G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV002880640]	likely benign	19	7644763	7644763	Human	1	name
156219178	CV2082056	single nucleotide variant	NM_006949.4(STXBP2):c.1538+19C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002894112]	likely benign	19	7647266	7647266	Human	1	name
156321308	CV2112042	single nucleotide variant	NM_006949.4(STXBP2):c.1453-12C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV002937769]	likely benign	19	7647150	7647150	Human	1	name
156207885	CV2160266	single nucleotide variant	NM_006949.4(STXBP2):c.1697-12G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003042220]	likely benign	19	7647713	7647713	Human	1	name
243058294	CV2406513	single nucleotide variant	NM_006949.4(STXBP2):c.1538+12G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003138854]	conflicting interpretations of pathogenicity\|uncertain significance	19	7647259	7647259	Human	1	name
11550436	CV257274	single nucleotide variant	NM_006949.4(STXBP2):c.1026+35G>A	not specified [RCV000251753]	benign	19	7643083	7643083	Human		name
11547248	CV257275	single nucleotide variant	NM_006949.4(STXBP2):c.1108-46T>C	not specified [RCV000247516]	likely benign	19	7644568	7644568	Human		name
11551225	CV257278	single nucleotide variant	NM_006949.4(STXBP2):c.1247-43T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV001815261]\|not provided [RCV001683059]\|not specified [RCV000252764]	benign	19	7645154	7645154	Human	1	name
11548398	CV257279	single nucleotide variant	NM_006949.4(STXBP2):c.1247-10C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV000540043]\|not provided [RCV004717118]\|not specified [RCV000249033]	benign\|likely benign	19	7645187	7645187	Human	1	name
11548667	CV257280	single nucleotide variant	NM_006949.4(STXBP2):c.1356+18A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV001522264]\|not provided [RCV001610679]\|not specified [RCV000249389]	benign	19	7645324	7645324	Human	1	name
11545449	CV257282	single nucleotide variant	NM_006949.4(STXBP2):c.1538+10C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV000647338]\|not provided [RCV001702396]\|not specified [RCV000245154]	benign\|likely benign	19	7647257	7647257	Human	1	name
11547679	CV257283	single nucleotide variant	NM_006949.4(STXBP2):c.1538+17G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV002058217]\|not specified [RCV000248081]	likely benign	19	7647264	7647264	Human	1	name
11551444	CV257284	single nucleotide variant	NM_006949.4(STXBP2):c.1538+28C>T	not provided [RCV001660301]\|not specified [RCV000253055]	benign	19	7647275	7647275	Human	1	name
11551444	CV257284	single nucleotide variant	NM_006949.4(STXBP2):c.1538+28C>T	not provided [RCV001660301]\|not specified [RCV000253055]	benign	19	7647275	7647276	Human	1	name
11545686	CV257285	single nucleotide variant	NM_006949.4(STXBP2):c.1539-47G>A	not provided [RCV001594907]\|not specified [RCV000245474]	benign	19	7647307	7647307	Human		name
11547071	CV257289	single nucleotide variant	NM_006949.4(STXBP2):c.1696+20A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV001522490]\|not provided [RCV001707591]\|not specified [RCV000247283]	benign	19	7647531	7647531	Human	1	name
11549602	CV257290	single nucleotide variant	NM_006949.4(STXBP2):c.1696+28G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV001815262]\|not provided [RCV001683060]\|not specified [RCV000250624]	benign	19	7647539	7647539	Human	1	name
11543845	CV257291	single nucleotide variant	NM_006949.4(STXBP2):c.1696+46C>T	not specified [RCV000243005]	benign	19	7647557	7647557	Human		name
11547609	CV257292	single nucleotide variant	NM_006949.4(STXBP2):c.1697-26T>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV001815263]\|not provided [RCV001636793]\|not specified [RCV000247984]	benign	19	7647699	7647699	Human	1	name
401907132	CV2795765	single nucleotide variant	NM_006949.4(STXBP2):c.247-165G>A	not specified [RCV003397117]	benign	19	7640566	7640566	Human		name
401907036	CV2795776	single nucleotide variant	NM_006949.4(STXBP2):c.1697-34C>G	not specified [RCV003397128]	benign	19	7647691	7647691	Human		name
405042181	CV2856290	single nucleotide variant	NM_006949.4(STXBP2):c.1697-16C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530516]	likely benign	19	7647709	7647709	Human	1	name
405042335	CV2860148	single nucleotide variant	NM_006949.4(STXBP2):c.1026+18G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530529]	likely benign	19	7643066	7643066	Human	1	name
405040533	CV2864607	single nucleotide variant	NM_006949.4(STXBP2):c.1538+12G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530377]	likely benign	19	7647259	7647259	Human	1	name
405042027	CV2866394	single nucleotide variant	NM_006949.4(STXBP2):c.1538+18C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530503]	likely benign	19	7647265	7647265	Human	1	name
405044883	CV2880402	single nucleotide variant	NM_006949.4(STXBP2):c.1108-13C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530715]	likely benign	19	7644601	7644601	Human	1	name
405046104	CV2885729	single nucleotide variant	NM_006949.4(STXBP2):c.1107+18G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530793]	likely benign	19	7643263	7643263	Human	1	name
405049295	CV2897028	single nucleotide variant	NM_006949.4(STXBP2):c.1697-17C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531082]	likely benign	19	7647708	7647708	Human	1	name
405049306	CV2897165	single nucleotide variant	NM_006949.4(STXBP2):c.1108-12C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531083]	likely benign	19	7644602	7644602	Human	1	name
405051815	CV2920389	single nucleotide variant	NM_006949.4(STXBP2):c.1356+20G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531246]	likely benign	19	7645326	7645326	Human	1	name
405035486	CV2922433	single nucleotide variant	NM_006949.4(STXBP2):c.1246+14G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003529804]	likely benign	19	7644766	7644766	Human	1	name
405052719	CV2924783	single nucleotide variant	NM_006949.4(STXBP2):c.1696+14A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531313]	likely benign	19	7647525	7647525	Human	1	name
402504493	CV2940710	single nucleotide variant	NM_006949.4(STXBP2):c.1356+20G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645405]	likely benign	19	7645326	7645326	Human	1	name
402504672	CV2941884	single nucleotide variant	NM_006949.4(STXBP2):c.1108-16G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645422]	likely benign	19	7644598	7644598	Human	1	name
402504617	CV2944939	single nucleotide variant	NM_006949.4(STXBP2):c.1539-16C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645416]	likely benign	19	7647338	7647338	Human	1	name
402504319	CV2946357	single nucleotide variant	NM_006949.4(STXBP2):c.1107+17G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645389]	likely benign	19	7643262	7643262	Human	1	name
402505169	CV2955632	single nucleotide variant	NM_006949.4(STXBP2):c.1452+18A>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645471]	likely benign	19	7646362	7646362	Human	1	name
402504902	CV2957384	single nucleotide variant	NM_006949.4(STXBP2):c.1452+13A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645443]	likely benign	19	7646357	7646357	Human	1	name
402506252	CV2970102	single nucleotide variant	NM_006949.4(STXBP2):c.1247-18C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645579]	likely benign	19	7645179	7645179	Human	1	name
402505259	CV2970406	single nucleotide variant	NM_006949.4(STXBP2):c.1356+18A>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645481]	likely benign	19	7645324	7645324	Human	1	name
402507157	CV2978679	single nucleotide variant	NM_006949.4(STXBP2):c.1539-15C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645667]	likely benign	19	7647339	7647339	Human	1	name
402507738	CV2979976	single nucleotide variant	NM_006949.4(STXBP2):c.1246+20A>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645724]	likely benign	19	7644772	7644772	Human	1	name
402508419	CV2980202	single nucleotide variant	NM_006949.4(STXBP2):c.1026+15G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645739]	likely benign	19	7643063	7643063	Human	1	name
402506514	CV2980728	deletion	NM_006949.4(STXBP2):c.1538+22del	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645604]	benign	19	7647265	7647265	Human	1	name
402506859	CV2985013	single nucleotide variant	NM_006949.4(STXBP2):c.1538+10C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645636]	likely benign	19	7647257	7647257	Human	1	name
402507050	CV2985261	single nucleotide variant	NM_006949.4(STXBP2):c.1453-10C>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645656]	likely benign	19	7647152	7647152	Human	1	name
402507999	CV2991317	single nucleotide variant	NM_006949.4(STXBP2):c.1539-11G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645776]	likely benign	19	7647343	7647343	Human	1	name
402508156	CV2991689	single nucleotide variant	NM_006949.4(STXBP2):c.1696+16T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645792]	likely benign	19	7647527	7647527	Human	1	name
402508936	CV2993592	single nucleotide variant	NM_006949.4(STXBP2):c.1696+13G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645856]	likely benign	19	7647524	7647524	Human	1	name
402508814	CV2996663	deletion	NM_006949.4(STXBP2):c.1356+25del	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645840]	benign	19	7645326	7645326	Human	1	name
402508869	CV3000367	single nucleotide variant	NM_006949.4(STXBP2):c.1027-11G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645847]	likely benign	19	7643154	7643154	Human	1	name
402497598	CV3008102	single nucleotide variant	NM_006949.4(STXBP2):c.1453-19C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644539]	likely benign	19	7647143	7647143	Human	1	name
402497680	CV3014579	single nucleotide variant	NM_006949.4(STXBP2):c.1453-15C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644549]	likely benign	19	7647147	7647147	Human	1	name
402498547	CV3028149	single nucleotide variant	NM_006949.4(STXBP2):c.1247-11C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644637]	likely benign	19	7645186	7645186	Human	1	name
402499426	CV3030690	single nucleotide variant	NM_006949.4(STXBP2):c.1357-13G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644721]	likely benign	19	7646236	7646236	Human	1	name
402499815	CV3040068	single nucleotide variant	NM_006949.4(STXBP2):c.1247-19G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644760]\|not specified [RCV004765955]	likely benign	19	7645178	7645178	Human	1	name
402499957	CV3047258	single nucleotide variant	NM_006949.4(STXBP2):c.1356+19T>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644775]	likely benign	19	7645325	7645325	Human	1	name
402500231	CV3067548	single nucleotide variant	NM_006949.4(STXBP2):c.1108-19G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644802]	likely benign	19	7644595	7644595	Human	1	name
405182785	CV3120043	single nucleotide variant	NM_006949.4(STXBP2):c.1027-15C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003820137]	likely benign	19	7643150	7643150	Human	1	name
405000734	CV3120299	single nucleotide variant	NM_006949.4(STXBP2):c.1696+15C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003828089]	likely benign	19	7647526	7647526	Human	1	name
404984617	CV3121664	deletion	NM_006949.4(STXBP2):c.1246+11del	Familial hemophagocytic lymphohistiocytosis 5 [RCV003826463]	benign	19	7644759	7644759	Human	1	name
405199971	CV3147227	single nucleotide variant	NM_006949.4(STXBP2):c.1538+14G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV003844387]	likely benign	19	7647261	7647261	Human	1	name
405054725	CV3151425	single nucleotide variant	NM_006949.4(STXBP2):c.1027-14C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003849834]	likely benign	19	7643151	7643151	Human	1	name
405158257	CV3152645	single nucleotide variant	NM_006949.4(STXBP2):c.1108-11C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV003840572]	likely benign	19	7644603	7644603	Human	1	name
405250251	CV3180680	deletion	NM_006949.4(STXBP2):c.1107+22del	Familial hemophagocytic lymphohistiocytosis 5 [RCV003869957]	benign	19	7643262	7643262	Human	1	name
11620373	CV334733	single nucleotide variant	NM_006949.4(STXBP2):c.1027-10C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV000918719]\|not specified [RCV001821005]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7643155	7643155	Human	1	name
597907536	CV3738913	single nucleotide variant	NM_006949.4(STXBP2):c.1453-14C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005073148]	likely benign	19	7647148	7647148	Human	1	name
597942966	CV3757907	single nucleotide variant	NM_006949.4(STXBP2):c.1453-19C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV005077906]	likely benign	19	7647143	7647143	Human	1	name
597916970	CV3779455	single nucleotide variant	NM_006949.4(STXBP2):c.1026+11G>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005129596]	likely benign	19	7643059	7643059	Human	1	name
597889812	CV3788145	single nucleotide variant	NM_006949.4(STXBP2):c.1356+10G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV005125503]	likely benign	19	7645316	7645316	Human	1	name
597865840	CV3792685	single nucleotide variant	NM_006949.4(STXBP2):c.1108-20G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV005147492]	likely benign	19	7644594	7644594	Human	1	name
597922487	CV3812251	single nucleotide variant	NM_006949.4(STXBP2):c.1108-19G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV005155888]	likely benign	19	7644595	7644595	Human	1	name
597973321	CV3820412	single nucleotide variant	NM_006949.4(STXBP2):c.1027-17C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV005167929]	likely benign	19	7643148	7643148	Human	1	name
597973823	CV3820656	single nucleotide variant	NM_006949.4(STXBP2):c.1356+13C>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV005168173]	likely benign	19	7645319	7645319	Human	1	name
597848827	CV3828517	duplication	NM_006949.4(STXBP2):c.1107+16dup	Familial hemophagocytic lymphohistiocytosis 5 [RCV005173394]	likely benign	19	7643260	7643261	Human	1	name
597920565	CV3852037	single nucleotide variant	NM_006949.4(STXBP2):c.1356+20G>A	Familial hemophagocytic lymphohistiocytosis 5 [RCV005205017]	likely benign	19	7645326	7645326	Human	1	name
597921426	CV3861760	single nucleotide variant	NM_006949.4(STXBP2):c.1452+19G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV005205136]	likely benign	19	7646363	7646363	Human	1	name
13466403	CV470265	single nucleotide variant	NM_006949.4(STXBP2):c.1108-10A>G	Familial hemophagocytic lymphohistiocytosis 5 [RCV000551019]\|not provided [RCV004704084]	likely benign	19	7644604	7644604	Human	1	name
15112422	CV731320	single nucleotide variant	NM_006949.4(STXBP2):c.1453-10C>T	Autoinflammatory syndrome [RCV002264061]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV001495291]\|STXBP2-related disorder [RCV003920818]	likely benign	19	7647152	7647152	Human	2	name , alternate_id
15168728	CV760639	single nucleotide variant	NM_006949.4(STXBP2):c.1452+10G>A	not provided [RCV000927352]	likely benign	19	7646354	7646354	Human		name
28873404	CV882973	single nucleotide variant	NM_006949.4(STXBP2):c.1027-11G>C	Familial hemophagocytic lymphohistiocytosis 5 [RCV001132829]	uncertain significance	19	7643154	7643154	Human	1	name
28867476	CV882974	single nucleotide variant	NM_006949.4(STXBP2):c.1356+13C>T	Familial hemophagocytic lymphohistiocytosis 5 [RCV001129256]	conflicting interpretations of pathogenicity\|uncertain significance	19	7645319	7645319	Human	1	name
127306138	CV1158721	microsatellite	NM_006949.4(STXBP2):c.246+19GT[3]	Familial hemophagocytic lymphohistiocytosis 5 [RCV001516514]	benign	19	7639826	7639827	Human		name
150512826	CV1228832	single nucleotide variant	NM_006949.4(STXBP2):c.1357-281T>C	not provided [RCV001637674]\|not specified [RCV003487569]	benign	19	7645968	7645968	Human		name
150461443	CV1264310	single nucleotide variant	NM_006949.4(STXBP2):c.1356+151G>A	not provided [RCV001682227]	benign	19	7645457	7645457	Human		name
150463667	CV1273185	single nucleotide variant	NM_006949.4(STXBP2):c.1108-229A>G	not provided [RCV001693942]	benign	19	7644385	7644385	Human		name
150457286	CV1278605	single nucleotide variant	NM_006949.4(STXBP2):c.1356+143C>T	not provided [RCV001709220]	benign	19	7645449	7645449	Human		name
150489635	CV1279155	single nucleotide variant	NM_006949.4(STXBP2):c.1108-326C>T	not provided [RCV001716332]	benign	19	7644288	7644288	Human		name
329352772	CV2476727	microsatellite	NM_006949.4(STXBP2):c.246+54TG[3]	not provided [RCV003222959]	benign	19	7639861	7639862	Human		name
404982071	CV2849022	single nucleotide variant	NM_006949.4(STXBP2):c.1356+411C>G	not specified [RCV003488894]	benign	19	7645717	7645717	Human		name
404983732	CV2849347	single nucleotide variant	NM_006949.4(STXBP2):c.1357-215G>A	not specified [RCV003489219]	benign	19	7646034	7646034	Human		name
405854791	CV3394907	single nucleotide variant	NM_006949.4(STXBP2):c.1108-482T>G	not provided [RCV004555048]	uncertain significance	19	7644132	7644132	Human		name
404981871	CV2848961	microsatellite	NM_006949.4(STXBP2):c.247-176TG[6]	not specified [RCV003488832]	benign	19	7640554	7640555	Human		name
404987398	CV2849425	microsatellite	NM_006949.4(STXBP2):c.247-380TG[3]	not specified [RCV003490282]	benign	19	7640350	7640351	Human		name
404987419	CV2849429	microsatellite	NM_006949.4(STXBP2):c.247-316TG[4]	not specified [RCV003490286]	benign	19	7640414	7640415	Human		name
405052710	CV2924779	deletion	NM_006949.4(STXBP2):c.247-2_284del	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531312]	likely pathogenic	19	7640725	7640764	Human	1	name
127313145	CV1149187	microsatellite	NM_006949.4(STXBP2):c.88-17_88-6del	Familial hemophagocytic lymphohistiocytosis 5 [RCV001481884]	likely benign	19	7638990	7639001	Human		name
597752021	CV3705928	deletion	NM_006949.4(STXBP2):c.426_429+13del	Familial hemophagocytic lymphohistiocytosis 5 [RCV005015972]	likely pathogenic	19	7640997	7641013	Human	1	name
152101581	CV1667101	single nucleotide variant	NM_006949.4(STXBP2):c.9C>G (p.Pro3=)	not provided [RCV002214087]	uncertain significance	19	7637158	7637158	Human		name
156214751	CV1983637	single nucleotide variant	NM_006949.4(STXBP2):c.6G>A (p.Ala2=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002626216]	likely benign	19	7637155	7637155	Human	1	name
405047857	CV2894820	single nucleotide variant	NM_006949.4(STXBP2):c.6G>T (p.Ala2=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530951]	likely benign	19	7637155	7637155	Human	1	name
15124500	CV776649	duplication	NM_006949.4(STXBP2):c.429+3_429+9dup	Familial hemophagocytic lymphohistiocytosis 5 [RCV000941044]	likely benign	19	7641005	7641006	Human	1	name
151811326	CV1376683	deletion	NM_006949.4(STXBP2):c.579-19_579-5del	Familial hemophagocytic lymphohistiocytosis 5 [RCV001899981]	likely benign\|uncertain significance	19	7642010	7642024	Human	1	name
152145773	CV1582715	single nucleotide variant	NM_006949.4(STXBP2):c.24G>C (p.Ala8=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002201217]	likely benign	19	7637173	7637173	Human	1	name
152055666	CV1590922	single nucleotide variant	NM_006949.4(STXBP2):c.27G>C (p.Val9=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002109505]	likely benign	19	7637176	7637176	Human	1	name
152141465	CV1625862	single nucleotide variant	NM_006949.4(STXBP2):c.27G>A (p.Val9=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002138231]	likely benign	19	7637176	7637176	Human	1	name
152040271	CV1640036	single nucleotide variant	NM_006949.4(STXBP2):c.12G>C (p.Ser4=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002087856]	likely benign	19	7637161	7637161	Human	1	name
152079881	CV1649822	single nucleotide variant	NM_006949.4(STXBP2):c.21G>A (p.Lys7=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002092706]	likely benign	19	7637170	7637170	Human	1	name
405050932	CV2913213	single nucleotide variant	NM_006949.4(STXBP2):c.24G>T (p.Ala8=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531181]	likely benign	19	7637173	7637173	Human	1	name
402499722	CV3033434	deletion	NM_006949.4(STXBP2):c.429+9_429+16del	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644751]	likely benign	19	7641012	7641019	Human	1	name
405159628	CV3159892	single nucleotide variant	NM_006949.4(STXBP2):c.16C>T (p.Leu6=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003856963]	likely benign	19	7637165	7637165	Human	1	name
405292193	CV3192337	insertion	NM_006949.4(STXBP2):c.578+8_578+9insG	STXBP2-related disorder [RCV003929616]	likely benign	19	7641861	7641862	Human		name , trait , alternate_id
126758445	CV1034558	single nucleotide variant	NM_006949.4(STXBP2):c.36A>G (p.Glu12=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001339851]\|STXBP2-related disorder [RCV003405570]	uncertain significance	19	7637185	7637185	Human	1	name , alternate_id
151764224	CV1447627	deletion	NM_006949.4(STXBP2):c.246+16_246+21del	Familial hemophagocytic lymphohistiocytosis 5 [RCV001895688]	likely benign\|uncertain significance	19	7639820	7639825	Human	1	name
151869213	CV1497626	single nucleotide variant	NM_006949.4(STXBP2):c.87G>A (p.Lys29=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001960209]	uncertain significance	19	7638775	7638775	Human	1	name
152109953	CV1536895	single nucleotide variant	NM_006949.4(STXBP2):c.48C>T (p.Ser16=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002215343]\|STXBP2-related disorder [RCV003968815]	likely benign	19	7638736	7638736	Human	1	name , alternate_id
152063287	CV1554333	single nucleotide variant	NM_006949.4(STXBP2):c.30G>A (p.Val10=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002190793]	likely benign	19	7637179	7637179	Human	1	name
152137270	CV1563367	duplication	NM_006949.4(STXBP2):c.169+13_169+17dup	Familial hemophagocytic lymphohistiocytosis 5 [RCV002200114]	likely benign	19	7639111	7639112	Human	1	name
152077555	CV1604792	deletion	NM_006949.4(STXBP2):c.663+11_663+30del	Familial hemophagocytic lymphohistiocytosis 5 [RCV002092428]	likely benign	19	7642124	7642143	Human	1	name
156204015	CV1952680	deletion	NM_006949.4(STXBP2):c.246+16_246+19del	Familial hemophagocytic lymphohistiocytosis 5 [RCV002574885]	likely benign\|uncertain significance	19	7639822	7639825	Human	1	name
156085453	CV2170536	single nucleotide variant	NM_006949.4(STXBP2):c.7C>T (p.Pro3Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003038030]	uncertain significance	19	7637156	7637156	Human	1	name
401907125	CV2795764	duplication	NM_006949.4(STXBP2):c.246+52_246+59dup	not specified [RCV003397116]	benign	19	7639854	7639855	Human		name
405041333	CV2861787	duplication	NM_006949.4(STXBP2):c.578+11_578+16dup	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530445]	likely benign	19	7641863	7641864	Human	1	name
405044584	CV2876363	deletion	NM_006949.4(STXBP2):c.326-30_326-23del	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530694]	likely benign	19	7640868	7640875	Human	1	name
405049567	CV2911719	single nucleotide variant	NM_006949.4(STXBP2):c.30G>C (p.Val10=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531102]	likely benign	19	7637179	7637179	Human	1	name
402508636	CV2995880	deletion	NM_006949.4(STXBP2):c.169+19_169+44del	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645820]	likely benign	19	7639119	7639144	Human	1	name
405129771	CV3163253	single nucleotide variant	NM_006949.4(STXBP2):c.30G>T (p.Val10=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003854434]	likely benign	19	7637179	7637179	Human	1	name
597904700	CV3793335	single nucleotide variant	NM_006949.4(STXBP2):c.8C>T (p.Pro3Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005153303]	uncertain significance	19	7637157	7637157	Human	1	name
597962122	CV3809085	microsatellite	NM_006949.4(STXBP2):c.170-13_170-12del	Familial hemophagocytic lymphohistiocytosis 5 [RCV005163987]	likely benign	19	7639716	7639717	Human		name
597976040	CV3829062	single nucleotide variant	NM_006949.4(STXBP2):c.66C>G (p.Val22=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005169511]	likely benign	19	7638754	7638754	Human	1	name
14716109	CV648526	single nucleotide variant	NM_006949.4(STXBP2):c.5C>T (p.Ala2Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000795017]	uncertain significance	19	7637154	7637154	Human	1	name
127308921	CV1128257	single nucleotide variant	NM_006949.4(STXBP2):c.249G>C (p.Ser83=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001463419]	likely benign	19	7640733	7640733	Human	1	name
151792234	CV1341424	single nucleotide variant	NM_006949.4(STXBP2):c.22G>A (p.Ala8Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001866354]\|not provided [RCV004693798]	uncertain significance	19	7637171	7637171	Human	1	name
152105076	CV1559854	microsatellite	NM_006949.4(STXBP2):c.1027-17CACCCTG[3]	Familial hemophagocytic lymphohistiocytosis 5 [RCV002133742]\|STXBP2-related disorder [RCV003958872]\|not specified [RCV003155467]	benign\|likely benign	19	7643147	7643148	Human		name , alternate_id
152031437	CV1561185	single nucleotide variant	NM_006949.4(STXBP2):c.234C>T (p.Ser78=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002106155]	likely benign	19	7639795	7639795	Human	1	name
155987739	CV1884150	single nucleotide variant	NM_006949.4(STXBP2):c.180C>T (p.Asp60=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003075967]	likely benign	19	7639741	7639741	Human	1	name
156129801	CV1889341	insertion	NM_006949.4(STXBP2):c.903-16_903-15insT	Familial hemophagocytic lymphohistiocytosis 5 [RCV003081788]	likely benign	19	7642750	7642751	Human	1	name
155987898	CV2056327	single nucleotide variant	NM_006949.4(STXBP2):c.229C>T (p.Leu77=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002819065]	likely benign	19	7639790	7639790	Human	1	name
156003427	CV2057595	single nucleotide variant	NM_006949.4(STXBP2):c.255G>A (p.Gln85=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002819764]	uncertain significance	19	7640739	7640739	Human	1	name
155953941	CV2166223	single nucleotide variant	NM_006949.4(STXBP2):c.261G>A (p.Leu87=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003014997]	likely benign	19	7640745	7640745	Human	1	name
11545615	CV257267	single nucleotide variant	NM_006949.4(STXBP2):c.165C>T (p.Ile55=)	Autoinflammatory syndrome [RCV002262896]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000967668]\|not provided [RCV004703541]\|not specified [RCV000245381]	benign\|likely benign	19	7639096	7639096	Human	2	name
401945450	CV2836662	deletion	NM_006949.4(STXBP2):c.80del (p.Glu27fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003464654]	pathogenic\|likely pathogenic	19	7638768	7638768	Human	1	name
405050423	CV2907000	single nucleotide variant	NM_006949.4(STXBP2):c.237C>T (p.Pro79=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531055]	likely benign	19	7639798	7639798	Human	1	name
405051863	CV2920536	deletion	NM_006949.4(STXBP2):c.1247-11_1247-9del	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531250]	likely benign	19	7645186	7645188	Human	1	name
402506691	CV2984605	single nucleotide variant	NM_006949.4(STXBP2):c.129C>G (p.Ser43=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645621]	likely benign	19	7639060	7639060	Human	1	name
402506603	CV2987484	single nucleotide variant	NM_006949.4(STXBP2):c.279G>A (p.Gly93=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645613]	likely benign	19	7640763	7640763	Human	1	name
402508884	CV2996736	duplication	NM_006949.4(STXBP2):c.34dup (p.Glu12fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645849]	pathogenic	19	7637178	7637179	Human	1	name
402498318	CV3010484	single nucleotide variant	NM_006949.4(STXBP2):c.291C>T (p.Phe97=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644613]	likely benign	19	7640775	7640775	Human	1	name
405293489	CV3214214	insertion	NM_006949.4(STXBP2):c.578+8_578+9insGCC	STXBP2-related disorder [RCV003931918]	likely benign	19	7641860	7641861	Human		name , trait , alternate_id
405265881	CV3220949	duplication	NM_006949.4(STXBP2):c.1247-30_1247-3dup	STXBP2-related disorder [RCV003969105]	likely benign	19	7645164	7645165	Human		name , trait , alternate_id
11653669	CV344541	single nucleotide variant	NM_006949.4(STXBP2):c.14G>A (p.Gly5Glu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000312580]	uncertain significance	19	7637163	7637163	Human	1	name
11655694	CV344547	single nucleotide variant	NM_006949.4(STXBP2):c.270C>T (p.Asp90=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000327779]	uncertain significance	19	7640754	7640754	Human	1	name
597895681	CV3773360	single nucleotide variant	NM_006949.4(STXBP2):c.177A>G (p.Glu59=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005111267]	likely benign	19	7639738	7639738	Human	1	name
597969568	CV3791595	single nucleotide variant	NM_006949.4(STXBP2):c.258C>T (p.Ala86=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005141412]	likely benign	19	7640742	7640742	Human	1	name
597962469	CV3795427	single nucleotide variant	NM_006949.4(STXBP2):c.219C>G (p.Ala73=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005139119]	likely benign	19	7639780	7639780	Human	1	name
13620141	CV533421	single nucleotide variant	NM_006949.4(STXBP2):c.285G>A (p.Pro95=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000647336]	likely benign	19	7640769	7640769	Human	1	name
14730093	CV648528	single nucleotide variant	NM_006949.4(STXBP2):c.240G>A (p.Thr80=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000817226]\|STXBP2-related disorder [RCV004751734]	likely benign\|uncertain significance	19	7639801	7639801	Human	1	name , alternate_id
14713923	CV648529	single nucleotide variant	NM_006949.4(STXBP2):c.249G>A (p.Ser83=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000810722]	uncertain significance	19	7640733	7640733	Human	1	name
15133217	CV786315	single nucleotide variant	NM_006949.4(STXBP2):c.294C>T (p.Thr98=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000981518]	likely benign	19	7640778	7640778	Human	1	name
26901045	CV848159	single nucleotide variant	NM_006949.4(STXBP2):c.279G>T (p.Gly93=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001049742]	likely benign\|uncertain significance	19	7640763	7640763	Human	1	name
126771867	CV1034561	single nucleotide variant	NM_006949.4(STXBP2):c.612C>A (p.Ala204=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001345293]	likely benign\|uncertain significance	19	7642067	7642067	Human	1	name
127258664	CV1106837	single nucleotide variant	NM_006949.4(STXBP2):c.672G>A (p.Glu224=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001427402]	likely benign	19	7642211	7642211	Human	1	name
127248304	CV1106838	single nucleotide variant	NM_006949.4(STXBP2):c.750G>A (p.Gln250=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001424902]	likely benign	19	7642289	7642289	Human	1	name
127317302	CV1149188	single nucleotide variant	NM_006949.4(STXBP2):c.366T>C (p.Arg122=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001503350]	likely benign	19	7640940	7640940	Human	1	name
127321266	CV1149189	single nucleotide variant	NM_006949.4(STXBP2):c.651C>T (p.Pro217=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001504706]	likely benign	19	7642106	7642106	Human	1	name
127285862	CV1149190	single nucleotide variant	NM_006949.4(STXBP2):c.744G>A (p.Thr248=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001493775]	likely benign	19	7642283	7642283	Human	1	name
127313325	CV1149192	single nucleotide variant	NM_006949.4(STXBP2):c.912G>A (p.Thr304=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001481966]	likely benign	19	7642775	7642775	Human	1	name
151873476	CV1359649	single nucleotide variant	NM_006949.4(STXBP2):c.68A>G (p.Lys23Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002019241]	uncertain significance	19	7638756	7638756	Human	1	name
151833845	CV1364442	single nucleotide variant	NM_006949.4(STXBP2):c.72G>C (p.Lys24Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001976918]	likely benign\|uncertain significance	19	7638760	7638760	Human	1	name
151831218	CV1373358	single nucleotide variant	NM_006949.4(STXBP2):c.29T>C (p.Val10Ala)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001901830]	uncertain significance	19	7637178	7637178	Human	1	name
151720023	CV1396507	single nucleotide variant	NM_006949.4(STXBP2):c.47G>A (p.Ser16Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001890947]	uncertain significance	19	7638735	7638735	Human	1	name
151846795	CV1431808	single nucleotide variant	NM_006949.4(STXBP2):c.303G>A (p.Ala101=)	Autoinflammatory syndrome [RCV002264428]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV001957443]	likely benign\|uncertain significance	19	7640787	7640787	Human	2	name
151833208	CV1446577	single nucleotide variant	NM_006949.4(STXBP2):c.97A>G (p.Met33Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002031007]\|Inborn genetic diseases [RCV002548975]	uncertain significance	19	7639028	7639028	Human	2	name
151729113	CV1483081	single nucleotide variant	NM_006949.4(STXBP2):c.79G>C (p.Glu27Gln)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001892057]	uncertain significance	19	7638767	7638767	Human	1	name
151814529	CV1491320	deletion	NM_006949.4(STXBP2):c.284del (p.Pro95fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001975105]	pathogenic	19	7640765	7640765	Human	1	name
151888716	CV1517242	single nucleotide variant	NM_006949.4(STXBP2):c.417C>G (p.Pro139=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002038458]	likely benign\|uncertain significance	19	7640991	7640991	Human	1	name
152059341	CV1536073	single nucleotide variant	NM_006949.4(STXBP2):c.462C>T (p.Tyr154=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002146591]	likely benign	19	7641737	7641737	Human	1	name
152115891	CV1553301	single nucleotide variant	NM_006949.4(STXBP2):c.546C>G (p.Thr182=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002080887]	likely benign	19	7641821	7641821	Human	1	name
152116031	CV1566699	single nucleotide variant	NM_006949.4(STXBP2):c.441C>T (p.Leu147=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002097496]	likely benign	19	7641716	7641716	Human	1	name
152047681	CV1569508	single nucleotide variant	NM_006949.4(STXBP2):c.612C>T (p.Ala204=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002126839]\|not specified [RCV004700625]	likely benign	19	7642067	7642067	Human	1	name
152129745	CV1584352	single nucleotide variant	NM_006949.4(STXBP2):c.453C>T (p.His151=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002082698]	likely benign	19	7641728	7641728	Human	1	name
152087412	CV1594691	single nucleotide variant	NM_006949.4(STXBP2):c.507C>G (p.Leu169=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002113589]	likely benign	19	7641782	7641782	Human	1	name
152172088	CV1597987	single nucleotide variant	NM_006949.4(STXBP2):c.963G>A (p.Ala321=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002162332]\|STXBP2-related disorder [RCV003923457]	likely benign	19	7642985	7642985	Human	1	name , alternate_id
152146394	CV1599989	single nucleotide variant	NM_006949.4(STXBP2):c.330C>T (p.Cys110=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002138862]	likely benign	19	7640904	7640904	Human	1	name
152141675	CV1625970	single nucleotide variant	NM_006949.4(STXBP2):c.810G>A (p.Gly270=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002138256]	likely benign	19	7642444	7642444	Human	1	name
152098244	CV1639836	single nucleotide variant	NM_006949.4(STXBP2):c.879C>T (p.His293=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002078640]	likely benign	19	7642513	7642513	Human	1	name
152154341	CV1643735	single nucleotide variant	NM_006949.4(STXBP2):c.888C>T (p.Ile296=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002122204]	likely benign	19	7642522	7642522	Human	1	name
152138654	CV1645306	single nucleotide variant	NM_006949.4(STXBP2):c.693G>A (p.Leu231=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002137890]	likely benign	19	7642232	7642232	Human	1	name
152107635	CV1657348	single nucleotide variant	NM_006949.4(STXBP2):c.630C>T (p.Asn210=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002215033]	likely benign	19	7642085	7642085	Human	1	name
152153877	CV1657864	deletion	NM_006949.4(STXBP2):c.1107+12_1107+27del	Familial hemophagocytic lymphohistiocytosis 5 [RCV002179866]	likely benign	19	7643248	7643263	Human	1	name
152034733	CV1666241	single nucleotide variant	NM_006949.4(STXBP2):c.426C>T (p.Ala142=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002106795]	likely benign	19	7641000	7641000	Human	1	name
156388140	CV1888257	single nucleotide variant	NM_006949.4(STXBP2):c.660C>T (p.Gly220=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003067734]	uncertain significance	19	7642115	7642115	Human	1	name
155970466	CV1888949	single nucleotide variant	NM_006949.4(STXBP2):c.342G>A (p.Leu114=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003075152]	likely benign	19	7640916	7640916	Human	1	name
156045381	CV1914797	single nucleotide variant	NM_006949.4(STXBP2):c.414C>T (p.Leu138=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002620416]	likely benign	19	7640988	7640988	Human	1	name
156288311	CV1929850	single nucleotide variant	NM_006949.4(STXBP2):c.834C>T (p.Ala278=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002628706]	likely benign	19	7642468	7642468	Human	1	name
156377538	CV1930652	single nucleotide variant	NM_006949.4(STXBP2):c.852C>T (p.Asp284=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002633970]	likely benign	19	7642486	7642486	Human	1	name
156158997	CV1967779	single nucleotide variant	NM_006949.4(STXBP2):c.507C>T (p.Leu169=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002594399]	likely benign	19	7641782	7641782	Human	1	name
156318373	CV1971435	single nucleotide variant	NM_006949.4(STXBP2):c.981C>T (p.Ser327=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002630191]	likely benign	19	7643003	7643003	Human	1	name
156241700	CV1996389	single nucleotide variant	NM_006949.4(STXBP2):c.459C>G (p.Thr153=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002667948]	likely benign	19	7641734	7641734	Human	1	name
156283971	CV2001570	single nucleotide variant	NM_006949.4(STXBP2):c.340C>T (p.Leu114=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002646939]	likely benign	19	7640914	7640914	Human	1	name
156012030	CV2011534	single nucleotide variant	NM_006949.4(STXBP2):c.388T>C (p.Leu130=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002690566]	likely benign	19	7640962	7640962	Human	1	name
156177593	CV2023161	single nucleotide variant	NM_006949.4(STXBP2):c.468C>T (p.Leu156=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002765513]	likely benign	19	7641743	7641743	Human	1	name
156288857	CV2050313	single nucleotide variant	NM_006949.4(STXBP2):c.405T>C (p.Leu135=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002807260]	likely benign	19	7640979	7640979	Human	1	name
156307384	CV2079881	single nucleotide variant	NM_006949.4(STXBP2):c.948G>A (p.Leu316=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002857474]	likely benign	19	7642811	7642811	Human	1	name
156150674	CV2100283	single nucleotide variant	NM_006949.4(STXBP2):c.456C>T (p.Ser152=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002872308]	likely benign	19	7641731	7641731	Human	1	name
156029371	CV2105349	single nucleotide variant	NM_006949.4(STXBP2):c.540C>T (p.Cys180=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002909994]	likely benign	19	7641815	7641815	Human	1	name
156158189	CV2118406	single nucleotide variant	NM_006949.4(STXBP2):c.363T>G (p.Ser121=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002929143]	likely benign	19	7640937	7640937	Human	1	name
156240753	CV2129644	single nucleotide variant	NM_006949.4(STXBP2):c.534G>A (p.Thr178=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002958859]	likely benign	19	7641809	7641809	Human	1	name
156032740	CV2142165	single nucleotide variant	NM_006949.4(STXBP2):c.384G>A (p.Lys128=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002976675]	likely benign	19	7640958	7640958	Human	1	name
156191193	CV2149920	single nucleotide variant	NM_006949.4(STXBP2):c.688C>T (p.Leu230=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003006008]	likely benign	19	7642227	7642227	Human	1	name
156199915	CV2153783	microsatellite	NM_006949.4(STXBP2):c.1538+21_1538+26del	Familial hemophagocytic lymphohistiocytosis 5 [RCV003006287]	likely benign	19	7647262	7647267	Human		name
156184596	CV2163918	single nucleotide variant	NM_006949.4(STXBP2):c.615C>T (p.Val205=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003023935]	likely benign	19	7642070	7642070	Human	1	name
156222052	CV2173324	single nucleotide variant	NM_006949.4(STXBP2):c.921G>C (p.Leu307=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003025233]	likely benign	19	7642784	7642784	Human	1	name
8560155	CV22901	deletion	NM_006949.4(STXBP2):c.260del (p.Leu87fs)	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE [RCV000008312]	pathogenic	19	7640744	7640744	Human		name
11550358	CV257266	single nucleotide variant	NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)	Autoinflammatory syndrome [RCV002262899]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000647335]\|not provided [RCV001566927]\|not specified [RCV000251651]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7638737	7638737	Human	2	name
11546628	CV257269	single nucleotide variant	NM_006949.4(STXBP2):c.495C>T (p.Arg165=)	Autoinflammatory syndrome [RCV002262898]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000529320]\|Familial hemophagocytic lymphohistiocytosis [RCV000324162]\|not provided [RCV001683061]\|not specified [RCV000246709]	benign\|likely benign	19	7641770	7641770	Human	3	name
11544016	CV257270	single nucleotide variant	NM_006949.4(STXBP2):c.609C>T (p.His203=)	Autoinflammatory syndrome [RCV002262900]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000546219]\|not provided [RCV004808656]\|not specified [RCV000243229]	benign\|likely benign	19	7642064	7642064	Human	2	name
11544560	CV257272	single nucleotide variant	NM_006949.4(STXBP2):c.816C>T (p.Ser272=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000543288]\|not specified [RCV000243954]	benign	19	7642450	7642450	Human	1	name
11547997	CV257273	single nucleotide variant	NM_006949.4(STXBP2):c.849G>A (p.Glu283=)	Autoinflammatory syndrome [RCV002262901]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000560102]\|Familial hemophagocytic lymphohistiocytosis [RCV000375641]\|not specified [RCV000248506]	benign\|uncertain significance	19	7642483	7642483	Human	3	name
401795813	CV2742765	single nucleotide variant	NM_006949.4(STXBP2):c.58C>T (p.Arg20Trp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003325263]	uncertain significance	19	7638746	7638746	Human	1	name
401947711	CV2836649	duplication	NM_006949.4(STXBP2):c.290dup (p.Thr98fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003466423]	likely pathogenic	19	7640771	7640772	Human	1	name
405041387	CV2858736	single nucleotide variant	NM_006949.4(STXBP2):c.678C>T (p.Thr226=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530450]	likely benign	19	7642217	7642217	Human	1	name
405042287	CV2863317	single nucleotide variant	NM_006949.4(STXBP2):c.372A>G (p.Ala124=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530525]	likely benign	19	7640946	7640946	Human	1	name
405047242	CV2890558	single nucleotide variant	NM_006949.4(STXBP2):c.954G>C (p.Thr318=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530905]	likely benign	19	7642817	7642817	Human	1	name
405046277	CV2892003	single nucleotide variant	NM_006949.4(STXBP2):c.519C>T (p.Ala173=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530780]	likely benign	19	7641794	7641794	Human	1	name
405049316	CV2900565	single nucleotide variant	NM_006949.4(STXBP2):c.813G>A (p.Leu271=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531043]	likely benign	19	7642447	7642447	Human	1	name
405049083	CV2903559	single nucleotide variant	NM_006949.4(STXBP2):c.573C>T (p.Tyr191=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531067]	likely benign	19	7641848	7641848	Human	1	name
405052653	CV2917886	single nucleotide variant	NM_006949.4(STXBP2):c.678C>G (p.Thr226=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531308]	likely benign	19	7642217	7642217	Human	1	name
405051134	CV2919547	single nucleotide variant	NM_006949.4(STXBP2):c.315C>T (p.Phe105=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531196]	likely benign	19	7640799	7640799	Human	1	name
405036581	CV2929976	single nucleotide variant	NM_006949.4(STXBP2):c.723C>T (p.Ser241=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003529874]	likely benign	19	7642262	7642262	Human	1	name
405036800	CV2933292	single nucleotide variant	NM_006949.4(STXBP2):c.435C>T (p.Phe145=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003529891]	likely benign	19	7641710	7641710	Human	1	name
402504114	CV2936301	single nucleotide variant	NM_006949.4(STXBP2):c.927C>T (p.Thr309=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645387]\|STXBP2-related disorder [RCV003948899]	likely benign	19	7642790	7642790	Human	1	name , alternate_id
402504576	CV2938007	single nucleotide variant	NM_006949.4(STXBP2):c.375G>A (p.Lys125=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645412]	likely benign	19	7640949	7640949	Human	1	name
402504787	CV2949197	single nucleotide variant	NM_006949.4(STXBP2):c.360C>G (p.Arg120=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645432]	likely benign	19	7640934	7640934	Human	1	name
402505232	CV2952965	single nucleotide variant	NM_006949.4(STXBP2):c.753C>T (p.Ala251=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645478]	likely benign	19	7642292	7642292	Human	1	name
402505497	CV2964287	single nucleotide variant	NM_006949.4(STXBP2):c.726A>G (p.Pro242=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645503]	likely benign	19	7642265	7642265	Human	1	name
402507386	CV2979177	single nucleotide variant	NM_006949.4(STXBP2):c.811C>T (p.Leu271=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645690]	likely benign	19	7642445	7642445	Human	1	name
402507754	CV2989973	single nucleotide variant	NM_006949.4(STXBP2):c.498G>T (p.Thr166=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645726]	likely benign	19	7641773	7641773	Human	1	name
402508267	CV2990972	single nucleotide variant	NM_006949.4(STXBP2):c.534G>T (p.Thr178=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645754]	likely benign	19	7641809	7641809	Human	1	name
402508163	CV2991749	single nucleotide variant	NM_006949.4(STXBP2):c.633C>T (p.Ala211=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645793]	likely benign	19	7642088	7642088	Human	1	name
402507930	CV2994617	single nucleotide variant	NM_006949.4(STXBP2):c.912G>C (p.Thr304=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645769]	likely benign	19	7642775	7642775	Human	1	name
402497469	CV2997516	single nucleotide variant	NM_006949.4(STXBP2):c.708A>G (p.Ala236=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644527]	likely benign	19	7642247	7642247	Human	1	name
402508727	CV2999866	single nucleotide variant	NM_006949.4(STXBP2):c.714C>T (p.Asp238=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645831]	likely benign	19	7642253	7642253	Human	1	name
402508831	CV3003258	single nucleotide variant	NM_006949.4(STXBP2):c.897G>T (p.Val299=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645842]	likely benign	19	7642531	7642531	Human	1	name
402497649	CV3004751	single nucleotide variant	NM_006949.4(STXBP2):c.996G>A (p.Lys332=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644545]	likely benign	19	7643018	7643018	Human	1	name
402499483	CV3020700	single nucleotide variant	NM_006949.4(STXBP2):c.300A>G (p.Lys100=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644727]	likely benign	19	7640784	7640784	Human	1	name
402499156	CV3023156	single nucleotide variant	NM_006949.4(STXBP2):c.948G>C (p.Leu316=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644696]	likely benign	19	7642811	7642811	Human	1	name
402499355	CV3023689	single nucleotide variant	NM_006949.4(STXBP2):c.441C>G (p.Leu147=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644714]	likely benign	19	7641716	7641716	Human	1	name
402499103	CV3026268	single nucleotide variant	NM_006949.4(STXBP2):c.741C>G (p.Leu247=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644691]	likely benign	19	7642280	7642280	Human	1	name
402499132	CV3026572	single nucleotide variant	NM_006949.4(STXBP2):c.804C>T (p.Thr268=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644694]	likely benign	19	7642438	7642438	Human	1	name
402499067	CV3029519	single nucleotide variant	NM_006949.4(STXBP2):c.855T>C (p.Asp285=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644687]	likely benign	19	7642489	7642489	Human	1	name
402500340	CV3065461	single nucleotide variant	NM_006949.4(STXBP2):c.408C>G (p.Ala136=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644815]	likely benign	19	7640982	7640982	Human	1	name
405090359	CV3118478	single nucleotide variant	NM_006949.4(STXBP2):c.567C>A (p.Ile189=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003811120]	likely benign	19	7641842	7641842	Human	1	name
405164994	CV3121861	single nucleotide variant	NM_006949.4(STXBP2):c.984G>A (p.Gln328=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003818639]	likely benign	19	7643006	7643006	Human	1	name
405168955	CV3122292	single nucleotide variant	NM_006949.4(STXBP2):c.730C>T (p.Leu244=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003818881]	likely benign	19	7642269	7642269	Human	1	name
405175153	CV3123079	single nucleotide variant	NM_006949.4(STXBP2):c.825G>A (p.Arg275=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003819478]	likely benign	19	7642459	7642459	Human	1	name
405197150	CV3146706	single nucleotide variant	NM_006949.4(STXBP2):c.507C>A (p.Leu169=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003844061]	likely benign	19	7641782	7641782	Human	1	name
405191902	CV3149792	single nucleotide variant	NM_006949.4(STXBP2):c.807C>T (p.Thr269=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003843518]	likely benign	19	7642441	7642441	Human	1	name
405162238	CV3160077	single nucleotide variant	NM_006949.4(STXBP2):c.477C>G (p.Pro159=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003857148]	likely benign	19	7641752	7641752	Human	1	name
405244305	CV3161225	single nucleotide variant	NM_006949.4(STXBP2):c.537G>A (p.Leu179=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003868134]	likely benign	19	7641812	7641812	Human	1	name
405255542	CV3172523	single nucleotide variant	NM_006949.4(STXBP2):c.342G>C (p.Leu114=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003872461]	likely benign	19	7640916	7640916	Human	1	name
11626723	CV344548	single nucleotide variant	NM_006949.4(STXBP2):c.333C>T (p.Pro111=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000881033]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7640907	7640907	Human	1	name
11660043	CV350587	single nucleotide variant	NM_006949.4(STXBP2):c.321C>T (p.Thr107=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000363731]	conflicting interpretations of pathogenicity\|uncertain significance	19	7640805	7640805	Human	1	name
597859736	CV3817186	single nucleotide variant	NM_006949.4(STXBP2):c.870G>A (p.Glu290=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005146567]	likely benign	19	7642504	7642504	Human	1	name
597860322	CV3817260	single nucleotide variant	NM_006949.4(STXBP2):c.657G>C (p.Leu219=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005146640]	likely benign	19	7642112	7642112	Human	1	name
597972595	CV3823423	single nucleotide variant	NM_006949.4(STXBP2):c.741C>T (p.Leu247=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005167519]	likely benign	19	7642280	7642280	Human	1	name
597898978	CV3826706	single nucleotide variant	NM_006949.4(STXBP2):c.555G>A (p.Glu185=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005180839]	likely benign	19	7641830	7641830	Human	1	name
597833922	CV3827714	single nucleotide variant	NM_006949.4(STXBP2):c.471C>T (p.Tyr157=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005170804]	likely benign	19	7641746	7641746	Human	1	name
597845506	CV3827835	single nucleotide variant	NM_006949.4(STXBP2):c.618G>A (p.Leu206=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005172909]	likely benign	19	7642073	7642073	Human	1	name
597923647	CV3840022	single nucleotide variant	NM_006949.4(STXBP2):c.549G>A (p.Leu183=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005184761]	likely benign	19	7641824	7641824	Human	1	name
597951316	CV3847149	single nucleotide variant	NM_006949.4(STXBP2):c.735T>C (p.His245=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005190321]	likely benign	19	7642274	7642274	Human	1	name
597913376	CV3850956	single nucleotide variant	NM_006949.4(STXBP2):c.570C>A (p.Arg190=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005203924]	likely benign	19	7641845	7641845	Human	1	name
598122703	CV3884635	deletion	NM_006949.4(STXBP2):c.1696+20_1696+27del	not specified [RCV005237327]	likely benign	19	7647526	7647533	Human		name
598251964	CV3916132	single nucleotide variant	NM_006949.4(STXBP2):c.69G>C (p.Lys23Asn)	Inborn genetic diseases [RCV005277999]	uncertain significance	19	7638757	7638757	Human	1	name
13620147	CV533450	single nucleotide variant	NM_006949.4(STXBP2):c.408C>T (p.Ala136=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000647340]	likely benign	19	7640982	7640982	Human	1	name
13620148	CV533452	single nucleotide variant	NM_006949.4(STXBP2):c.747C>T (p.Phe249=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000647341]	likely benign	19	7642286	7642286	Human	1	name
13620139	CV533455	single nucleotide variant	NM_006949.4(STXBP2):c.988C>T (p.Leu330=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000647333]	likely benign	19	7643010	7643010	Human	1	name
13620145	CV533485	single nucleotide variant	NM_006949.4(STXBP2):c.312C>T (p.Ile104=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002060759]	likely benign	19	7640796	7640796	Human	1	name
13803694	CV575067	deletion	NM_006949.4(STXBP2):c.134del (p.Cys45fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000684854]	pathogenic	19	7639065	7639065	Human	1	name
15164211	CV716771	single nucleotide variant	NM_006949.4(STXBP2):c.846C>T (p.Asp282=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000970663]\|STXBP2-related disorder [RCV003928492]\|not provided [RCV004717735]\|not specified [RCV005056706]	benign\|likely benign	19	7642480	7642480	Human	1	name , alternate_id
15169504	CV728488	single nucleotide variant	NM_006949.4(STXBP2):c.387G>A (p.Thr129=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000883280]	likely benign	19	7640961	7640961	Human	1	name
15194988	CV728490	single nucleotide variant	NM_006949.4(STXBP2):c.822G>A (p.Ala274=)	Autoinflammatory syndrome [RCV002264051]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000889372]\|STXBP2-related disorder [RCV003948408]\|not provided [RCV004717728]	benign\|likely benign\|uncertain significance	19	7642456	7642456	Human	2	name , alternate_id
15164821	CV742211	single nucleotide variant	NM_006949.4(STXBP2):c.420C>T (p.Tyr140=)	Autoinflammatory syndrome [RCV002264073]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000904088]	benign\|likely benign	19	7640994	7640994	Human	2	name
15146233	CV742212	single nucleotide variant	NM_006949.4(STXBP2):c.717C>T (p.Pro239=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000900291]\|STXBP2-related disorder [RCV003910735]\|not provided [RCV003424455]	benign\|likely benign	19	7642256	7642256	Human	1	name , alternate_id
15199603	CV757340	single nucleotide variant	NM_006949.4(STXBP2):c.498G>A (p.Thr166=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000912598]\|not provided [RCV004704312]	likely benign	19	7641773	7641773	Human	1	name
15097562	CV757341	single nucleotide variant	NM_006949.4(STXBP2):c.561G>A (p.Pro187=)	Autoinflammatory syndrome [RCV002264088]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000914037]	likely benign\|uncertain significance	19	7641836	7641836	Human	2	name
15198966	CV757342	single nucleotide variant	NM_006949.4(STXBP2):c.759G>A (p.Ala253=)	Autoinflammatory syndrome [RCV002264087]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV001415315]	likely benign\|uncertain significance	19	7642298	7642298	Human	2	name
15134343	CV757343	single nucleotide variant	NM_006949.4(STXBP2):c.981C>A (p.Ser327=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001447486]	likely benign	19	7643003	7643003	Human	1	name
15201937	CV772975	single nucleotide variant	NM_006949.4(STXBP2):c.360C>T (p.Arg120=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000935806]\|not provided [RCV004704343]	likely benign	19	7640934	7640934	Human	1	name
15186841	CV772976	single nucleotide variant	NM_006949.4(STXBP2):c.954G>A (p.Thr318=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001435954]	likely benign	19	7642817	7642817	Human	1	name
15202759	CV772977	single nucleotide variant	NM_006949.4(STXBP2):c.987C>T (p.Ile329=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001462667]	likely benign	19	7643009	7643009	Human	1	name
15139979	CV786316	single nucleotide variant	NM_006949.4(STXBP2):c.789A>G (p.Thr263=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001407893]	likely benign	19	7642328	7642328	Human	1	name
126743992	CV1018653	deletion	NM_006949.4(STXBP2):c.607del (p.His203fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001330339]	pathogenic	19	7642060	7642060	Human	1	name
126743998	CV1018654	single nucleotide variant	NM_006949.4(STXBP2):c.1071C>T (p.Phe357=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001330340]	uncertain significance	19	7643209	7643209	Human	1	name
126760737	CV1034559	single nucleotide variant	NM_006949.4(STXBP2):c.190C>T (p.Arg64Trp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001340491]	uncertain significance	19	7639751	7639751	Human	1	name
126744579	CV1034560	single nucleotide variant	NM_006949.4(STXBP2):c.291C>A (p.Phe97Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001351298]	uncertain significance	19	7640775	7640775	Human	1	name
127239273	CV1085116	single nucleotide variant	NM_006949.4(STXBP2):c.1065G>A (p.Lys355=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001415296]\|STXBP2-related disorder [RCV004751976]	likely benign	19	7643203	7643203	Human	1	name , alternate_id
127242994	CV1085121	single nucleotide variant	NM_006949.4(STXBP2):c.1185C>T (p.Asp395=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001398275]	likely benign	19	7644691	7644691	Human	1	name
127230023	CV1085122	single nucleotide variant	NM_006949.4(STXBP2):c.1335A>T (p.Gly445=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001412300]	likely benign	19	7645285	7645285	Human	1	name
127234893	CV1085123	single nucleotide variant	NM_006949.4(STXBP2):c.1374C>T (p.Ser458=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001414290]	likely benign	19	7646266	7646266	Human	1	name
127249701	CV1106839	single nucleotide variant	NM_006949.4(STXBP2):c.1068C>T (p.His356=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001425194]	likely benign	19	7643206	7643206	Human	1	name
127250964	CV1106841	single nucleotide variant	NM_006949.4(STXBP2):c.1515G>T (p.Thr505=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001436475]	likely benign	19	7647224	7647224	Human	1	name
127253558	CV1106842	single nucleotide variant	NM_006949.4(STXBP2):c.1761G>A (p.Leu587=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001426075]\|STXBP2-related disorder [RCV003908621]	likely benign	19	7647789	7647789	Human	1	name , alternate_id
127336658	CV1128259	single nucleotide variant	NM_006949.4(STXBP2):c.1125C>T (p.Ser375=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001475124]	likely benign	19	7644631	7644631	Human	1	name
127331144	CV1128260	single nucleotide variant	NM_006949.4(STXBP2):c.1167C>A (p.Ile389=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001471351]	likely benign	19	7644673	7644673	Human	1	name
127335289	CV1128261	single nucleotide variant	NM_006949.4(STXBP2):c.1419C>T (p.Ser473=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001474164]	likely benign	19	7646311	7646311	Human	1	name
127306304	CV1149193	single nucleotide variant	NM_006949.4(STXBP2):c.1266G>A (p.Leu422=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001480014]	likely benign	19	7645216	7645216	Human	1	name
127329129	CV1149194	single nucleotide variant	NM_006949.4(STXBP2):c.1273C>T (p.Leu425=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001487244]	likely benign	19	7645223	7645223	Human	1	name
127331081	CV1149195	single nucleotide variant	NM_006949.4(STXBP2):c.1605C>T (p.Ile535=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001488588]	likely benign	19	7647420	7647420	Human	1	name
127303568	CV1149196	single nucleotide variant	NM_006949.4(STXBP2):c.1719G>A (p.Pro573=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001499432]	likely benign	19	7647747	7647747	Human	1	name
127320959	CV1158719	single nucleotide variant	NM_006949.4(STXBP2):c.185A>G (p.Asn62Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001522884]\|STXBP2-related disorder [RCV003940970]\|not provided [RCV002264376]	benign\|likely benign	19	7639746	7639746	Human	1	name , alternate_id
150529881	CV1289364	single nucleotide variant	NM_006949.4(STXBP2):c.193C>T (p.Arg65Trp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001728115]	pathogenic\|not provided	19	7639754	7639754	Human	1	name
150552247	CV1301186	single nucleotide variant	NM_006949.4(STXBP2):c.184A>G (p.Asn62Asp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005095004]\|not provided [RCV001767596]\|not specified [RCV003331195]	uncertain significance	19	7639745	7639745	Human	1	name
151814812	CV1349825	single nucleotide variant	NM_006949.4(STXBP2):c.242A>G (p.Glu81Gly)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002012797]	uncertain significance	19	7639803	7639803	Human	1	name
151793907	CV1353871	single nucleotide variant	NM_006949.4(STXBP2):c.115C>T (p.Arg39Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001990329]	uncertain significance	19	7639046	7639046	Human	1	name
151773031	CV1402764	single nucleotide variant	NM_006949.4(STXBP2):c.133T>C (p.Cys45Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001896527]	uncertain significance	19	7639064	7639064	Human	1	name
151869561	CV1412132	single nucleotide variant	NM_006949.4(STXBP2):c.1515G>A (p.Thr505=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001884967]	likely benign\|uncertain significance	19	7647224	7647224	Human	1	name
151824992	CV1425127	single nucleotide variant	NM_006949.4(STXBP2):c.287C>A (p.Thr96Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001901245]	uncertain significance	19	7640771	7640771	Human	1	name
151802497	CV1442408	single nucleotide variant	NM_006949.4(STXBP2):c.1173G>A (p.Pro391=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002011702]	likely benign\|uncertain significance	19	7644679	7644679	Human	1	name
151818234	CV1446040	single nucleotide variant	NM_006949.4(STXBP2):c.1494C>T (p.Phe498=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001975471]	likely benign	19	7647203	7647203	Human	1	name
151713816	CV1451170	single nucleotide variant	NM_006949.4(STXBP2):c.1500C>T (p.Ser500=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002002521]	likely benign	19	7647209	7647209	Human	1	name
151720415	CV1481487	single nucleotide variant	NM_006949.4(STXBP2):c.1647C>T (p.Ala549=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001982985]	likely benign	19	7647462	7647462	Human	1	name
151876894	CV1484535	single nucleotide variant	NM_006949.4(STXBP2):c.233G>T (p.Ser78Ile)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001982016]	uncertain significance	19	7639794	7639794	Human	1	name
151865681	CV1495162	single nucleotide variant	NM_006949.4(STXBP2):c.205C>G (p.Pro69Ala)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001980686]	uncertain significance	19	7639766	7639766	Human	1	name
151787028	CV1495513	single nucleotide variant	NM_006949.4(STXBP2):c.107C>G (p.Pro36Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002026825]	uncertain significance	19	7639038	7639038	Human	1	name
151761359	CV1497421	single nucleotide variant	NM_006949.4(STXBP2):c.106C>T (p.Pro36Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001987309]	uncertain significance	19	7639037	7639037	Human	1	name
151740836	CV1500953	single nucleotide variant	NM_006949.4(STXBP2):c.277G>A (p.Gly93Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001985228]	uncertain significance	19	7640761	7640761	Human	1	name
151729546	CV1505372	single nucleotide variant	NM_006949.4(STXBP2):c.248C>T (p.Ser83Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002021149]	uncertain significance	19	7640732	7640732	Human	1	name
151709130	CV1507782	single nucleotide variant	NM_006949.4(STXBP2):c.287C>T (p.Thr96Ile)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002001588]	uncertain significance	19	7640771	7640771	Human	1	name
152175216	CV1520776	single nucleotide variant	NM_006949.4(STXBP2):c.1548C>T (p.Phe516=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002184784]\|STXBP2-related disorder [RCV003913556]	likely benign	19	7647363	7647363	Human	1	name , alternate_id
152036480	CV1521682	single nucleotide variant	NM_006949.4(STXBP2):c.1662C>G (p.Thr554=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002187586]	likely benign	19	7647477	7647477	Human	1	name
152161253	CV1531057	single nucleotide variant	NM_006949.4(STXBP2):c.1122C>T (p.Gly374=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002123237]	likely benign	19	7644628	7644628	Human	1	name
152087056	CV1531890	single nucleotide variant	NM_006949.4(STXBP2):c.1446A>C (p.Val482=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002077122]	likely benign	19	7646338	7646338	Human	1	name
152057633	CV1567352	single nucleotide variant	NM_006949.4(STXBP2):c.1278C>T (p.Ile426=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002146419]	likely benign	19	7645228	7645228	Human	1	name
152155563	CV1572886	single nucleotide variant	NM_006949.4(STXBP2):c.1264C>T (p.Leu422=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002180076]	likely benign	19	7645214	7645214	Human	1	name
152156638	CV1573097	single nucleotide variant	NM_006949.4(STXBP2):c.1701C>T (p.Ser567=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002180231]	likely benign	19	7647729	7647729	Human	1	name
152086480	CV1573899	single nucleotide variant	NM_006949.4(STXBP2):c.1428C>G (p.Thr476=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002149997]	likely benign	19	7646320	7646320	Human	1	name
152144686	CV1576507	single nucleotide variant	NM_006949.4(STXBP2):c.1653C>T (p.Tyr551=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002101281]	likely benign	19	7647468	7647468	Human	1	name
152058800	CV1597295	single nucleotide variant	NM_006949.4(STXBP2):c.1584C>T (p.Ala528=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002128100]	likely benign	19	7647399	7647399	Human	1	name
152046805	CV1600439	single nucleotide variant	NM_006949.4(STXBP2):c.1330C>T (p.Leu444=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002088643]	likely benign	19	7645280	7645280	Human	1	name
152116294	CV1610921	single nucleotide variant	NM_006949.4(STXBP2):c.1491C>T (p.Pro497=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002135136]	likely benign	19	7647200	7647200	Human	1	name
152166096	CV1620770	single nucleotide variant	NM_006949.4(STXBP2):c.1437C>T (p.Ile479=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002181866]	likely benign	19	7646329	7646329	Human	1	name
152078803	CV1632212	single nucleotide variant	NM_006949.4(STXBP2):c.1152C>T (p.Asp384=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002130575]	likely benign	19	7644658	7644658	Human	1	name
152084914	CV1646502	single nucleotide variant	NM_006949.4(STXBP2):c.1263C>T (p.Asn421=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002149796]	likely benign	19	7645213	7645213	Human	1	name
152100856	CV1648927	single nucleotide variant	NM_006949.4(STXBP2):c.1140G>A (p.Glu380=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002213984]	likely benign	19	7644646	7644646	Human	1	name
152120072	CV1654904	single nucleotide variant	NM_006949.4(STXBP2):c.1662C>T (p.Thr554=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002216656]	likely benign	19	7647477	7647477	Human	1	name
152166362	CV1661262	single nucleotide variant	NM_006949.4(STXBP2):c.1206C>T (p.Asp402=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002124210]	likely benign	19	7644712	7644712	Human	1	name
153303240	CV1686168	single nucleotide variant	NM_006949.4(STXBP2):c.177A>C (p.Glu59Asp)	not provided [RCV002261601]	uncertain significance	19	7639738	7639738	Human		name
153305792	CV1686605	single nucleotide variant	NM_006949.4(STXBP2):c.1530C>G (p.Ala510=)	Autoinflammatory syndrome [RCV002264516]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV003101472]	likely benign\|uncertain significance	19	7647239	7647239	Human	2	name
156391863	CV1872946	single nucleotide variant	NM_006949.4(STXBP2):c.1698C>A (p.Gly566=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003051415]	likely benign	19	7647726	7647726	Human	1	name
156361181	CV1898971	single nucleotide variant	NM_006949.4(STXBP2):c.1623T>C (p.Gly541=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003091721]	likely benign	19	7647438	7647438	Human	1	name
156216330	CV1927703	single nucleotide variant	NM_006949.4(STXBP2):c.1212C>T (p.Ile404=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002644213]	likely benign	19	7644718	7644718	Human	1	name
156405986	CV1953946	single nucleotide variant	NM_006949.4(STXBP2):c.202A>G (p.Ile68Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002585766]\|Inborn genetic diseases [RCV004064403]	uncertain significance	19	7639763	7639763	Human	2	name
156387012	CV1957447	single nucleotide variant	NM_006949.4(STXBP2):c.1143G>A (p.Lys381=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002583561]	likely benign	19	7644649	7644649	Human	1	name
156232866	CV1999442	single nucleotide variant	NM_006949.4(STXBP2):c.1464G>A (p.Glu488=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002667648]	likely benign	19	7647173	7647173	Human	1	name
156274620	CV2014860	single nucleotide variant	NM_006949.4(STXBP2):c.1260G>A (p.Glu420=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002715097]	likely benign	19	7645210	7645210	Human	1	name
155943332	CV2064566	single nucleotide variant	NM_006949.4(STXBP2):c.1050A>G (p.Ala350=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002839554]	likely benign	19	7643188	7643188	Human	1	name
156182881	CV2068573	single nucleotide variant	NM_006949.4(STXBP2):c.1527G>A (p.Gln509=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002851890]	likely benign	19	7647236	7647236	Human	1	name
156297459	CV2069726	single nucleotide variant	NM_006949.4(STXBP2):c.295T>C (p.Tyr99His)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002833465]	uncertain significance	19	7640779	7640779	Human	1	name
156179549	CV2072229	single nucleotide variant	NM_006949.4(STXBP2):c.139A>G (p.Met47Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002851793]	uncertain significance	19	7639070	7639070	Human	1	name
156221481	CV2078542	single nucleotide variant	NM_006949.4(STXBP2):c.1659G>T (p.Val553=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002894201]	likely benign	19	7647474	7647474	Human	1	name
156249294	CV2082516	single nucleotide variant	NM_006949.4(STXBP2):c.1599G>T (p.Arg533=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002876883]	likely benign	19	7647414	7647414	Human	1	name
156034770	CV2097667	single nucleotide variant	NM_006949.4(STXBP2):c.1092G>C (p.Leu364=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002885558]	likely benign	19	7643230	7643230	Human	1	name
156142798	CV2106153	single nucleotide variant	NM_006949.4(STXBP2):c.235C>T (p.Pro79Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002928616]	uncertain significance	19	7639796	7639796	Human	1	name
155996300	CV2109415	single nucleotide variant	NM_006949.4(STXBP2):c.1428C>T (p.Thr476=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002947575]	likely benign	19	7646320	7646320	Human	1	name
156036391	CV2143226	single nucleotide variant	NM_006949.4(STXBP2):c.1476C>T (p.Asp492=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002999348]	likely benign	19	7647185	7647185	Human	1	name
156200090	CV2153803	single nucleotide variant	NM_006949.4(STXBP2):c.1245T>C (p.Asn415=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003006293]	uncertain significance	19	7644751	7644751	Human	1	name
156289239	CV2155068	single nucleotide variant	NM_006949.4(STXBP2):c.1047A>C (p.Leu349=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003009900]	likely benign	19	7643185	7643185	Human	1	name
155910083	CV2156916	single nucleotide variant	NM_006949.4(STXBP2):c.208A>G (p.Ser70Gly)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003012187]	uncertain significance	19	7639769	7639769	Human	1	name
8560156	CV22902	deletion	NM_006949.4(STXBP2):c.706del (p.Ala236fs)	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE [RCV000008313]	pathogenic	19	7642243	7642243	Human		name
11550997	CV257276	single nucleotide variant	NM_006949.4(STXBP2):c.1167C>T (p.Ile389=)	Autoinflammatory syndrome [RCV002262893]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000527604]\|STXBP2-related disorder [RCV004751401]\|not provided [RCV004703539]	benign\|likely benign	19	7644673	7644673	Human	2	name , alternate_id
11544642	CV257277	single nucleotide variant	NM_006949.4(STXBP2):c.1191G>A (p.Ala397=)	Autoinflammatory syndrome [RCV002262894]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000647342]\|not provided [RCV004703540]\|not specified [RCV000244064]	benign\|likely benign	19	7644697	7644697	Human	2	name
11551526	CV257281	single nucleotide variant	NM_006949.4(STXBP2):c.1443T>C (p.Asp481=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001519280]\|Familial hemophagocytic lymphohistiocytosis [RCV000311684]\|not provided [RCV001660300]\|not specified [RCV000253160]	benign	19	7646335	7646335	Human	2	name
11551707	CV257287	single nucleotide variant	NM_006949.4(STXBP2):c.1590G>A (p.Ala530=)	Autoinflammatory syndrome [RCV002262895]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000542558]\|not provided [RCV004717119]\|not specified [RCV000253378]	benign\|likely benign	19	7647405	7647405	Human	2	name
11643217	CV270316	single nucleotide variant	NM_006949.4(STXBP2):c.1188G>A (p.Ala396=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000816956]\|not provided [RCV000389883]	likely benign\|uncertain significance	19	7644694	7644694	Human	1	name
11640756	CV272092	single nucleotide variant	NM_006949.4(STXBP2):c.1569G>A (p.Lys523=)	Autoinflammatory syndrome [RCV002262925]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV001086029]\|Inborn genetic diseases [RCV004021233]\|STXBP2-related disorder [RCV004751438]\|not provided [RCV000344569]\|not specified [RCV003151010]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7647384	7647384	Human	3	name , alternate_id
401945452	CV2836663	duplication	NM_006949.4(STXBP2):c.652dup (p.Ser218fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003464655]	likely pathogenic	19	7642106	7642107	Human	1	name
401947721	CV2836669	single nucleotide variant	NM_006949.4(STXBP2):c.143C>G (p.Ser48Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003466428]	likely pathogenic	19	7639074	7639074	Human	1	name
405040161	CV2853859	single nucleotide variant	NM_006949.4(STXBP2):c.1188G>C (p.Ala396=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530348]	likely benign	19	7644694	7644694	Human	1	name
405043616	CV2878788	single nucleotide variant	NM_006949.4(STXBP2):c.1035G>A (p.Thr345=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530621]	likely benign	19	7643173	7643173	Human	1	name
405047062	CV2887292	single nucleotide variant	NM_006949.4(STXBP2):c.1111C>T (p.Leu371=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530891]	likely benign	19	7644617	7644617	Human	1	name
405045489	CV2891538	single nucleotide variant	NM_006949.4(STXBP2):c.1104G>A (p.Glu368=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530761]	likely benign	19	7643242	7643242	Human	1	name
405049624	CV2897409	single nucleotide variant	NM_006949.4(STXBP2):c.1080G>C (p.Ser360=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531106]	likely benign	19	7643218	7643218	Human	1	name
405049722	CV2897585	single nucleotide variant	NM_006949.4(STXBP2):c.297C>G (p.Tyr99Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531112]	pathogenic	19	7640781	7640781	Human	1	name
405048062	CV2901881	single nucleotide variant	NM_006949.4(STXBP2):c.1353C>G (p.Pro451=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530967]	likely benign	19	7645303	7645303	Human	1	name
405050322	CV2906528	single nucleotide variant	NM_006949.4(STXBP2):c.1020G>A (p.Leu340=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531029]	likely benign	19	7643042	7643042	Human	1	name
405048952	CV2907125	single nucleotide variant	NM_006949.4(STXBP2):c.1512C>T (p.Pro504=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531058]	likely benign	19	7647221	7647221	Human	1	name
405049777	CV2907876	single nucleotide variant	NM_006949.4(STXBP2):c.1200C>T (p.Ala400=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531116]	likely benign	19	7644706	7644706	Human	1	name
405050522	CV2912757	single nucleotide variant	NM_006949.4(STXBP2):c.1092G>A (p.Leu364=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531149]	likely benign	19	7643230	7643230	Human	1	name
405051888	CV2916775	single nucleotide variant	NM_006949.4(STXBP2):c.1177C>T (p.Leu393=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531252]	likely benign	19	7644683	7644683	Human	1	name
405050722	CV2919215	single nucleotide variant	NM_006949.4(STXBP2):c.1323G>A (p.Leu441=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531164]	likely benign	19	7645273	7645273	Human	1	name
405050747	CV2919305	insertion	NM_006949.4(STXBP2):c.902+19_902+20insATC	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531166]	likely benign	19	7642554	7642555	Human	1	name
405053137	CV2925104	single nucleotide variant	NM_006949.4(STXBP2):c.1551T>A (p.Gly517=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531344]	likely benign	19	7647366	7647366	Human	1	name
402504504	CV2937744	single nucleotide variant	NM_006949.4(STXBP2):c.1269C>G (p.Ala423=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645406]	likely benign	19	7645219	7645219	Human	1	name
402504926	CV2957743	single nucleotide variant	NM_006949.4(STXBP2):c.1341T>C (p.Thr447=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645445]	likely benign	19	7645291	7645291	Human	1	name
402505077	CV2958774	single nucleotide variant	NM_006949.4(STXBP2):c.1719G>C (p.Pro573=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645461]	likely benign	19	7647747	7647747	Human	1	name
402505280	CV2967137	single nucleotide variant	NM_006949.4(STXBP2):c.1746A>G (p.Ala582=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645483]	likely benign	19	7647774	7647774	Human	1	name
402507631	CV2986591	single nucleotide variant	NM_006949.4(STXBP2):c.1215G>T (p.Arg405=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645714]	likely benign	19	7644721	7644721	Human	1	name
402507779	CV2987027	single nucleotide variant	NM_006949.4(STXBP2):c.1197C>G (p.Pro399=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645729]	likely benign	19	7644703	7644703	Human	1	name
402507623	CV2989860	single nucleotide variant	NM_006949.4(STXBP2):c.1224G>C (p.Leu408=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645713]	likely benign	19	7644730	7644730	Human	1	name
402508905	CV2993330	single nucleotide variant	NM_006949.4(STXBP2):c.1611T>C (p.Tyr537=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645852]	likely benign	19	7647426	7647426	Human	1	name
402508150	CV2995318	single nucleotide variant	NM_006949.4(STXBP2):c.1722C>A (p.Thr574=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645791]	likely benign	19	7647750	7647750	Human	1	name
402508777	CV2996510	single nucleotide variant	NM_006949.4(STXBP2):c.1242G>C (p.Arg414=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645836]	likely benign	19	7644748	7644748	Human	1	name
402507923	CV2998273	single nucleotide variant	NM_006949.4(STXBP2):c.1602C>G (p.Leu534=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645768]	likely benign	19	7647417	7647417	Human	1	name
402508457	CV2999002	single nucleotide variant	NM_006949.4(STXBP2):c.1035G>T (p.Thr345=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645799]	likely benign	19	7643173	7643173	Human	1	name
402508228	CV3001042	single nucleotide variant	NM_006949.4(STXBP2):c.1710C>T (p.Ile570=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645758]	likely benign	19	7647738	7647738	Human	1	name
402508685	CV3003062	single nucleotide variant	NM_006949.4(STXBP2):c.1608G>A (p.Val536=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645826]	likely benign	19	7647423	7647423	Human	1	name
402498180	CV3006416	single nucleotide variant	NM_006949.4(STXBP2):c.238A>T (p.Thr80Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644599]	uncertain significance	19	7639799	7639799	Human	1	name
402498052	CV3009283	single nucleotide variant	NM_006949.4(STXBP2):c.1554C>T (p.His518=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644587]	likely benign	19	7647369	7647369	Human	1	name
402497715	CV3011625	single nucleotide variant	NM_006949.4(STXBP2):c.1149G>A (p.Lys383=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644553]	likely benign	19	7644655	7644655	Human	1	name
402498359	CV3017259	single nucleotide variant	NM_006949.4(STXBP2):c.1101G>A (p.Val367=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644617]	likely benign	19	7643239	7643239	Human	1	name
402499435	CV3027336	single nucleotide variant	NM_006949.4(STXBP2):c.1698C>T (p.Gly566=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644722]	likely benign	19	7647726	7647726	Human	1	name
402499703	CV3036136	single nucleotide variant	NM_006949.4(STXBP2):c.1416G>C (p.Leu472=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644749]	likely benign	19	7646308	7646308	Human	1	name
402499579	CV3038164	single nucleotide variant	NM_006949.4(STXBP2):c.1218C>T (p.Val406=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644737]	likely benign	19	7644724	7644724	Human	1	name
402499569	CV3040761	single nucleotide variant	NM_006949.4(STXBP2):c.1524C>T (p.Ser508=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644736]	likely benign	19	7647233	7647233	Human	1	name
402499952	CV3050677	single nucleotide variant	NM_006949.4(STXBP2):c.1053T>C (p.Asp351=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644774]	likely benign	19	7643191	7643191	Human	1	name
402500818	CV3074925	single nucleotide variant	NM_006949.4(STXBP2):c.1386G>C (p.Pro462=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644863]	likely benign	19	7646278	7646278	Human	1	name
405115261	CV3115469	single nucleotide variant	NM_006949.4(STXBP2):c.1593C>T (p.Gly531=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003814151]	likely benign	19	7647408	7647408	Human	1	name
405203257	CV3116790	single nucleotide variant	NM_006949.4(STXBP2):c.1017G>A (p.Glu339=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003822274]	likely benign	19	7643039	7643039	Human	1	name
405150661	CV3123342	single nucleotide variant	NM_006949.4(STXBP2):c.1458C>G (p.Ala486=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003817575]	likely benign	19	7647167	7647167	Human	1	name
405185231	CV3124158	single nucleotide variant	NM_006949.4(STXBP2):c.1344C>T (p.Val448=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003820356]	likely benign	19	7645294	7645294	Human	1	name
405121020	CV3131543	single nucleotide variant	NM_006949.4(STXBP2):c.132C>A (p.Cys44Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003837407]	pathogenic	19	7639063	7639063	Human	1	name
405082242	CV3137499	single nucleotide variant	NM_006949.4(STXBP2):c.1512C>G (p.Pro504=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003834208]	likely benign	19	7647221	7647221	Human	1	name
405230408	CV3153875	single nucleotide variant	NM_006949.4(STXBP2):c.1281G>A (p.Gln427=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003848743]	likely benign	19	7645231	7645231	Human	1	name
405204845	CV3165598	single nucleotide variant	NM_006949.4(STXBP2):c.1170T>C (p.Val390=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003861264]	likely benign	19	7644676	7644676	Human	1	name
402480614	CV3170584	single nucleotide variant	NM_006949.4(STXBP2):c.1596C>T (p.Pro532=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003875786]	likely benign	19	7647411	7647411	Human	1	name
11621399	CV334740	single nucleotide variant	NM_006949.4(STXBP2):c.1455C>T (p.Asp485=)	Autoinflammatory syndrome [RCV002263596]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000554097]\|not provided [RCV004546482]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7647164	7647164	Human	2	name
405869814	CV3399540	single nucleotide variant	NM_006949.4(STXBP2):c.253C>T (p.Gln85Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV004573685]	likely pathogenic	19	7640737	7640737	Human	1	name
11646833	CV344546	single nucleotide variant	NM_006949.4(STXBP2):c.145G>C (p.Asp49His)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000272735]	uncertain significance	19	7639076	7639076	Human	1	name
11632164	CV349578	single nucleotide variant	NM_006949.4(STXBP2):c.1134G>A (p.Glu378=)	Autoinflammatory syndrome [RCV002263593]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000400161]	conflicting interpretations of pathogenicity\|uncertain significance	19	7644640	7644640	Human	2	name
11628568	CV349584	single nucleotide variant	NM_006949.4(STXBP2):c.1620C>T (p.Gly540=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000304975]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7647435	7647435	Human	1	name
11630791	CV350590	single nucleotide variant	NM_006949.4(STXBP2):c.1671C>T (p.Thr557=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000938667]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7647486	7647486	Human	1	name
597633650	CV3615215	single nucleotide variant	NM_006949.4(STXBP2):c.159G>C (p.Glu53Asp)	Inborn genetic diseases [RCV004969144]	uncertain significance	19	7639090	7639090	Human	1	name
597839736	CV3737066	single nucleotide variant	NM_006949.4(STXBP2):c.1674G>A (p.Glu558=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005064546]	likely benign	19	7647489	7647489	Human	1	name
597958723	CV3751959	single nucleotide variant	NM_006949.4(STXBP2):c.1146C>A (p.Ile382=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005081089]	likely benign	19	7644652	7644652	Human	1	name
597942254	CV3779869	single nucleotide variant	NM_006949.4(STXBP2):c.1701C>G (p.Ser567=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005118878]	likely benign	19	7647729	7647729	Human	1	name
597968193	CV3790667	single nucleotide variant	NM_006949.4(STXBP2):c.1269C>T (p.Ala423=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005140898]	likely benign	19	7645219	7645219	Human	1	name
597962069	CV3795356	single nucleotide variant	NM_006949.4(STXBP2):c.274C>T (p.Gln92Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005139048]	pathogenic	19	7640758	7640758	Human	1	name
597956107	CV3796272	single nucleotide variant	NM_006949.4(STXBP2):c.1404C>T (p.Pro468=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005137089]	likely benign	19	7646296	7646296	Human	1	name
597957941	CV3796848	single nucleotide variant	NM_006949.4(STXBP2):c.1191G>C (p.Ala397=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005137746]	likely benign	19	7644697	7644697	Human	1	name
597911769	CV3850572	single nucleotide variant	NM_006949.4(STXBP2):c.1179G>C (p.Leu393=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005203721]	likely benign	19	7644685	7644685	Human	1	name
597891218	CV3856461	single nucleotide variant	NM_006949.4(STXBP2):c.226T>G (p.Leu76Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005200526]	uncertain significance	19	7639787	7639787	Human	1	name
13620132	CV533482	single nucleotide variant	NM_006949.4(STXBP2):c.167C>T (p.Thr56Ile)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000647327]\|Inborn genetic diseases [RCV004025734]	uncertain significance	19	7639098	7639098	Human	2	name
13833297	CV584527	single nucleotide variant	NM_006949.4(STXBP2):c.1197C>T (p.Pro399=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001079084]\|not provided [RCV000728503]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7644703	7644703	Human	1	name
14712744	CV648527	single nucleotide variant	NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000793904]\|Familial hemophagocytic lymphohistiocytosis [RCV002509538]\|not provided [RCV004719991]	pathogenic\|likely pathogenic\|uncertain significance	19	7639755	7639755	Human	2	name
14729431	CV648545	single nucleotide variant	NM_006949.4(STXBP2):c.1620C>A (p.Gly540=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000816948]	uncertain significance	19	7647435	7647435	Human	1	name
15186814	CV728492	single nucleotide variant	NM_006949.4(STXBP2):c.1530C>T (p.Ala510=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000887079]\|not specified [RCV003489957]	likely benign	19	7647239	7647239	Human	1	name
15167593	CV742214	single nucleotide variant	NM_006949.4(STXBP2):c.1128C>T (p.Asp376=)	Autoinflammatory syndrome [RCV002264075]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000904684]	likely benign	19	7644634	7644634	Human	2	name
15168705	CV742215	single nucleotide variant	NM_006949.4(STXBP2):c.1353C>T (p.Pro451=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000904911]	likely benign	19	7645303	7645303	Human	1	name
15164464	CV757344	single nucleotide variant	NM_006949.4(STXBP2):c.1203C>T (p.Tyr401=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000926387]	likely benign	19	7644709	7644709	Human	1	name
15157956	CV757345	single nucleotide variant	NM_006949.4(STXBP2):c.1219C>T (p.Leu407=)	not provided [RCV000924969]	likely benign	19	7644725	7644725	Human		name
15123767	CV757346	single nucleotide variant	NM_006949.4(STXBP2):c.1290T>C (p.Asn430=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000918875]	likely benign	19	7645240	7645240	Human	1	name
15203348	CV757347	single nucleotide variant	NM_006949.4(STXBP2):c.1458C>T (p.Ala486=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000913892]\|STXBP2-related disorder [RCV003895554]	likely benign	19	7647167	7647167	Human	1	name , alternate_id
15106009	CV772978	single nucleotide variant	NM_006949.4(STXBP2):c.1002G>A (p.Pro334=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000937702]	likely benign	19	7643024	7643024	Human	1	name
15176976	CV772979	single nucleotide variant	NM_006949.4(STXBP2):c.1080G>A (p.Ser360=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001392736]	likely benign	19	7643218	7643218	Human	1	name
15115992	CV772980	single nucleotide variant	NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001136224]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7644736	7644736	Human	1	name
15138863	CV772981	single nucleotide variant	NM_006949.4(STXBP2):c.1299G>A (p.Ala433=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001423877]	likely benign	19	7645249	7645249	Human	1	name
15101782	CV772982	single nucleotide variant	NM_006949.4(STXBP2):c.1692C>T (p.Leu564=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000936866]	likely benign	19	7647507	7647507	Human	1	name
15139230	CV786317	single nucleotide variant	NM_006949.4(STXBP2):c.1386G>A (p.Pro462=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000982599]	likely benign	19	7646278	7646278	Human	1	name
15134709	CV786318	single nucleotide variant	NM_006949.4(STXBP2):c.1431G>A (p.Pro477=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001473740]\|STXBP2-related disorder [RCV003936226]	likely benign	19	7646323	7646323	Human	1	name , alternate_id
26908317	CV848158	single nucleotide variant	NM_006949.4(STXBP2):c.275A>T (p.Gln92Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001038282]	uncertain significance	19	7640759	7640759	Human	1	name
28867479	CV882732	single nucleotide variant	NM_006949.4(STXBP2):c.1362G>A (p.Ser454=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001129257]	conflicting interpretations of pathogenicity\|uncertain significance	19	7646254	7646254	Human	1	name
28871768	CV882735	single nucleotide variant	NM_006949.4(STXBP2):c.1506C>T (p.Pro502=)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001131961]	conflicting interpretations of pathogenicity\|uncertain significance	19	7647215	7647215	Human	1	name
38476427	CV929130	single nucleotide variant	NM_006949.4(STXBP2):c.178G>A (p.Asp60Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001215637]	uncertain significance	19	7639739	7639739	Human	1	name
40888223	CV961984	single nucleotide variant	NM_006949.4(STXBP2):c.220A>T (p.Ile74Phe)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001267797]	uncertain significance	19	7639781	7639781	Human	1	name
126756142	CV998866	single nucleotide variant	NM_006949.4(STXBP2):c.116G>A (p.Arg39His)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001308030]	uncertain significance	19	7639047	7639047	Human	1	name
126758363	CV998867	single nucleotide variant	NM_006949.4(STXBP2):c.137A>G (p.Lys46Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001299162]	uncertain significance	19	7639068	7639068	Human	1	name
126763182	CV1013991	single nucleotide variant	NM_006949.4(STXBP2):c.364C>T (p.Arg122Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001319148]	uncertain significance	19	7640938	7640938	Human	1	name
126739145	CV1013992	single nucleotide variant	NM_006949.4(STXBP2):c.413T>A (p.Leu138His)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001314200]	uncertain significance	19	7640987	7640987	Human	1	name
126768259	CV1013993	single nucleotide variant	NM_006949.4(STXBP2):c.778G>A (p.Glu260Lys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001321265]	uncertain significance	19	7642317	7642317	Human	1	name
126744692	CV1013994	single nucleotide variant	NM_006949.4(STXBP2):c.962C>T (p.Ala321Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001314971]\|Inborn genetic diseases [RCV005278814]	uncertain significance	19	7642984	7642984	Human	2	name
126765772	CV1034562	single nucleotide variant	NM_006949.4(STXBP2):c.635T>C (p.Phe212Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001342162]	uncertain significance	19	7642090	7642090	Human	1	name
126765373	CV1034563	single nucleotide variant	NM_006949.4(STXBP2):c.821C>T (p.Ala274Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001342005]	uncertain significance	19	7642455	7642455	Human	1	name
126917550	CV1051575	single nucleotide variant	NM_006949.4(STXBP2):c.336G>T (p.Glu112Asp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001372134]\|not provided [RCV004779106]	uncertain significance	19	7640910	7640910	Human	1	name
126921372	CV1051576	single nucleotide variant	NM_006949.4(STXBP2):c.808G>T (p.Gly270Trp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001374357]	uncertain significance	19	7642442	7642442	Human	1	name
150338993	CV1174230	deletion	NM_006949.4(STXBP2):c.1146del (p.Lys383fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001542461]	pathogenic	19	7644652	7644652	Human	1	name
150473266	CV1272142	duplication	NM_006949.4(STXBP2):c.1356+290_1356+296dup	not provided [RCV001695680]	benign	19	7645591	7645592	Human		name
150532573	CV1293550	single nucleotide variant	NM_006949.4(STXBP2):c.577A>C (p.Lys193Gln)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005094934]\|not provided [RCV001757827]	uncertain significance	19	7641852	7641852	Human	1	name
150534149	CV1300437	single nucleotide variant	NM_006949.4(STXBP2):c.338C>T (p.Pro113Leu)	not provided [RCV001758565]	uncertain significance	19	7640912	7640912	Human		name
151817853	CV1337506	single nucleotide variant	NM_006949.4(STXBP2):c.574C>T (p.Arg192Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001919266]	uncertain significance	19	7641849	7641849	Human	1	name
151854377	CV1344333	single nucleotide variant	NM_006949.4(STXBP2):c.442G>A (p.Asp148Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001923209]	uncertain significance	19	7641717	7641717	Human	1	name
151785694	CV1344860	single nucleotide variant	NM_006949.4(STXBP2):c.500G>A (p.Arg167Gln)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001989549]	uncertain significance	19	7641775	7641775	Human	1	name
151839444	CV1345662	single nucleotide variant	NM_006949.4(STXBP2):c.355G>C (p.Gly119Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001902657]	uncertain significance	19	7640929	7640929	Human	1	name
151716650	CV1346068	single nucleotide variant	NM_006949.4(STXBP2):c.788C>T (p.Thr263Ile)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001965330]	uncertain significance	19	7642327	7642327	Human	1	name
151827945	CV1348167	single nucleotide variant	NM_006949.4(STXBP2):c.482G>A (p.Arg161Gln)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001870247]\|STXBP2-related disorder [RCV003407845]	uncertain significance	19	7641757	7641757	Human	1	name , alternate_id
151823612	CV1351482	single nucleotide variant	NM_006949.4(STXBP2):c.650C>G (p.Pro217Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001993024]	uncertain significance	19	7642105	7642105	Human	1	name
151750749	CV1359141	single nucleotide variant	NM_006949.4(STXBP2):c.842T>C (p.Leu281Pro)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001969165]	uncertain significance	19	7642476	7642476	Human	1	name
151746182	CV1361171	single nucleotide variant	NM_006949.4(STXBP2):c.715C>T (p.Pro239Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001871540]	uncertain significance	19	7642254	7642254	Human	1	name
151809623	CV1362968	single nucleotide variant	NM_006949.4(STXBP2):c.875G>A (p.Arg292His)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001991693]	uncertain significance	19	7642509	7642509	Human	1	name
151808320	CV1365465	single nucleotide variant	NM_006949.4(STXBP2):c.638A>C (p.Lys213Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001899703]	uncertain significance	19	7642093	7642093	Human	1	name
151861807	CV1374313	single nucleotide variant	NM_006949.4(STXBP2):c.419A>G (p.Tyr140Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001938640]	uncertain significance	19	7640993	7640993	Human	1	name
151802343	CV1375294	single nucleotide variant	NM_006949.4(STXBP2):c.797A>G (p.Tyr266Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001953046]	uncertain significance	19	7642431	7642431	Human	1	name
151798274	CV1376615	single nucleotide variant	NM_006949.4(STXBP2):c.934G>A (p.Glu312Lys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001932063]	uncertain significance	19	7642797	7642797	Human	1	name
151856895	CV1377476	single nucleotide variant	NM_006949.4(STXBP2):c.508G>A (p.Glu170Lys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001923508]\|Inborn genetic diseases [RCV003167196]	uncertain significance	19	7641783	7641783	Human	2	name
151879028	CV1395494	single nucleotide variant	NM_006949.4(STXBP2):c.647C>A (p.Thr216Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001999291]	uncertain significance	19	7642102	7642102	Human	1	name
151820794	CV1398270	single nucleotide variant	NM_006949.4(STXBP2):c.515T>C (p.Leu172Pro)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002013355]	uncertain significance	19	7641790	7641790	Human	1	name
151803616	CV1401486	single nucleotide variant	NM_006949.4(STXBP2):c.622A>C (p.Lys208Gln)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001932536]	uncertain significance	19	7642077	7642077	Human	1	name
151825606	CV1404240	single nucleotide variant	NM_006949.4(STXBP2):c.377T>C (p.Val126Ala)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001976155]	uncertain significance	19	7640951	7640951	Human	1	name
151743821	CV1406792	single nucleotide variant	NM_006949.4(STXBP2):c.493C>T (p.Arg165Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002006087]	uncertain significance	19	7641768	7641768	Human	1	name
151764852	CV1407723	single nucleotide variant	NM_006949.4(STXBP2):c.455G>A (p.Ser152Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002044675]	uncertain significance	19	7641730	7641730	Human	1	name
151768578	CV1408245	single nucleotide variant	NM_006949.4(STXBP2):c.541G>A (p.Ala181Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001914761]	uncertain significance	19	7641816	7641816	Human	1	name
151729965	CV1410188	single nucleotide variant	NM_006949.4(STXBP2):c.694A>T (p.Ile232Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001910758]\|Inborn genetic diseases [RCV002560421]	uncertain significance	19	7642233	7642233	Human	2	name
151825858	CV1418394	single nucleotide variant	NM_006949.4(STXBP2):c.466C>T (p.Leu156Phe)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001920012]	uncertain significance	19	7641741	7641741	Human	1	name
151862123	CV1420132	single nucleotide variant	NM_006949.4(STXBP2):c.758C>A (p.Ala253Glu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001980254]	uncertain significance	19	7642297	7642297	Human	1	name
151818976	CV1420946	single nucleotide variant	NM_006949.4(STXBP2):c.641C>T (p.Ala214Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002049599]	uncertain significance	19	7642096	7642096	Human	1	name
151762835	CV1425561	single nucleotide variant	NM_006949.4(STXBP2):c.670G>A (p.Glu224Lys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001928726]	uncertain significance	19	7642209	7642209	Human	1	name
151790986	CV1436187	single nucleotide variant	NM_006949.4(STXBP2):c.359G>A (p.Arg120His)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001990077]	uncertain significance	19	7640933	7640933	Human	1	name
151774708	CV1440711	single nucleotide variant	NM_006949.4(STXBP2):c.379G>A (p.Val127Met)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001896683]	uncertain significance	19	7640953	7640953	Human	1	name
151855600	CV1448754	single nucleotide variant	NM_006949.4(STXBP2):c.470A>C (p.Tyr157Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001979482]	uncertain significance	19	7641745	7641745	Human	1	name
151744884	CV1450208	single nucleotide variant	NM_006949.4(STXBP2):c.461A>G (p.Tyr154Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001893658]\|Inborn genetic diseases [RCV005288602]	uncertain significance	19	7641736	7641736	Human	2	name
151745283	CV1460898	single nucleotide variant	NM_006949.4(STXBP2):c.982C>T (p.Gln328Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001871443]	pathogenic	19	7643004	7643004	Human	1	name
151889237	CV1468601	single nucleotide variant	NM_006949.4(STXBP2):c.943A>G (p.Arg315Gly)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002001250]	uncertain significance	19	7642806	7642806	Human	1	name
151862921	CV1474379	single nucleotide variant	NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001884165]\|Familial hemophagocytic lymphohistiocytosis [RCV005409073]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	7642242	7642242	Human	2	name
151835486	CV1474830	single nucleotide variant	NM_006949.4(STXBP2):c.334G>A (p.Glu112Lys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001920927]	uncertain significance	19	7640908	7640908	Human	1	name
151827424	CV1479789	single nucleotide variant	NM_006949.4(STXBP2):c.799G>A (p.Glu267Lys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001901465]	uncertain significance	19	7642433	7642433	Human	1	name
151769875	CV1481702	single nucleotide variant	NM_006949.4(STXBP2):c.757G>T (p.Ala253Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002008742]\|Inborn genetic diseases [RCV002592565]	uncertain significance	19	7642296	7642296	Human	2	name
151828293	CV1489086	single nucleotide variant	NM_006949.4(STXBP2):c.541G>T (p.Ala181Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001934806]	uncertain significance	19	7641816	7641816	Human	1	name
151862833	CV1498363	single nucleotide variant	NM_006949.4(STXBP2):c.481C>T (p.Arg161Trp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001980348]	uncertain significance	19	7641756	7641756	Human	1	name
151773964	CV1504939	single nucleotide variant	NM_006949.4(STXBP2):c.751G>A (p.Ala251Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002009113]	uncertain significance	19	7642290	7642290	Human	1	name
151865453	CV1509846	single nucleotide variant	NM_006949.4(STXBP2):c.595G>A (p.Ala199Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001924544]	uncertain significance	19	7642050	7642050	Human	1	name
151796296	CV1512649	single nucleotide variant	NM_006949.4(STXBP2):c.765T>G (p.Asp255Glu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001866711]	uncertain significance	19	7642304	7642304	Human	1	name
153305794	CV1686607	single nucleotide variant	NM_006949.4(STXBP2):c.922A>G (p.Arg308Gly)	Autoinflammatory syndrome [RCV002264518]	uncertain significance	19	7642785	7642785	Human	1	name
155641620	CV1707068	single nucleotide variant	NM_006949.4(STXBP2):c.751G>C (p.Ala251Pro)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005096060]\|not provided [RCV002287998]	uncertain significance	19	7642290	7642290	Human	1	name
155669522	CV1770919	single nucleotide variant	NM_006949.4(STXBP2):c.542C>T (p.Ala181Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002297257]	uncertain significance	19	7641817	7641817	Human	1	name
156002754	CV1895673	single nucleotide variant	NM_006949.4(STXBP2):c.892G>A (p.Asp298Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003098878]	uncertain significance	19	7642526	7642526	Human	1	name
156287221	CV1929804	single nucleotide variant	NM_006949.4(STXBP2):c.560C>T (p.Pro187Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002628666]\|not specified [RCV004700966]	pathogenic\|likely pathogenic\|uncertain significance	19	7641835	7641835	Human	1	name
156120473	CV1982726	single nucleotide variant	NM_006949.4(STXBP2):c.874C>T (p.Arg292Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002622925]	uncertain significance	19	7642508	7642508	Human	1	name
156240721	CV1992541	single nucleotide variant	NM_006949.4(STXBP2):c.485C>T (p.Ala162Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002627122]	uncertain significance	19	7641760	7641760	Human	1	name
155945695	CV1999455	single nucleotide variant	NM_006949.4(STXBP2):c.646A>G (p.Thr216Ala)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002685730]	uncertain significance	19	7642101	7642101	Human	1	name
156048963	CV2006632	single nucleotide variant	NM_006949.4(STXBP2):c.526A>G (p.Ile176Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002659299]	uncertain significance	19	7641801	7641801	Human	1	name
156358712	CV2006845	single nucleotide variant	NM_006949.4(STXBP2):c.671A>G (p.Glu224Gly)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002676102]	uncertain significance	19	7642210	7642210	Human	1	name
156205158	CV2021423	single nucleotide variant	NM_006949.4(STXBP2):c.302C>T (p.Ala101Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002711542]	uncertain significance	19	7640786	7640786	Human	1	name
156035117	CV2047530	single nucleotide variant	NM_006949.4(STXBP2):c.864G>A (p.Trp288Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002781272]	pathogenic	19	7642498	7642498	Human	1	name
156285147	CV2050137	single nucleotide variant	NM_006949.4(STXBP2):c.551A>G (p.Gln184Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002807126]	uncertain significance	19	7641826	7641826	Human	1	name
156180250	CV2072267	single nucleotide variant	NM_006949.4(STXBP2):c.581G>T (p.Gly194Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002851813]	uncertain significance	19	7642036	7642036	Human	1	name
155920544	CV2073686	single nucleotide variant	NM_006949.4(STXBP2):c.336G>C (p.Glu112Asp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002838298]	uncertain significance	19	7640910	7640910	Human	1	name
156032275	CV2089802	deletion	NM_006949.4(STXBP2):c.71_72del (p.Lys24fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002885452]	pathogenic	19	7638759	7638760	Human	1	name
156042799	CV2094205	single nucleotide variant	NM_006949.4(STXBP2):c.817G>C (p.Glu273Gln)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002885877]	uncertain significance	19	7642451	7642451	Human	1	name
156182156	CV2102507	single nucleotide variant	NM_006949.4(STXBP2):c.679C>A (p.Arg227Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002917175]	uncertain significance	19	7642218	7642218	Human	1	name
155939612	CV2110604	single nucleotide variant	NM_006949.4(STXBP2):c.775A>G (p.Ile259Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002904378]	uncertain significance	19	7642314	7642314	Human	1	name
156367625	CV2113046	single nucleotide variant	NM_006949.4(STXBP2):c.445G>A (p.Ala149Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002942075]	uncertain significance	19	7641720	7641720	Human	1	name
155937295	CV2114276	single nucleotide variant	NM_006949.4(STXBP2):c.997A>C (p.Met333Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002904228]	uncertain significance	19	7643019	7643019	Human	1	name
155913339	CV2148700	single nucleotide variant	NM_006949.4(STXBP2):c.578A>G (p.Lys193Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002991479]	uncertain significance	19	7641853	7641853	Human	1	name
155903625	CV2151803	single nucleotide variant	NM_006949.4(STXBP2):c.910A>T (p.Thr304Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003011786]	uncertain significance	19	7642773	7642773	Human	1	name
155903838	CV2151829	single nucleotide variant	NM_006949.4(STXBP2):c.420C>A (p.Tyr140Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003011797]	pathogenic	19	7640994	7640994	Human	1	name
156128325	CV2158600	single nucleotide variant	NM_006949.4(STXBP2):c.761A>G (p.Tyr254Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003022075]	uncertain significance	19	7642300	7642300	Human	1	name
156184817	CV2163959	single nucleotide variant	NM_006949.4(STXBP2):c.680G>T (p.Arg227Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003023943]	uncertain significance	19	7642219	7642219	Human	1	name
156247515	CV2174368	single nucleotide variant	NM_006949.4(STXBP2):c.858C>G (p.Asp286Glu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003043669]	uncertain significance	19	7642492	7642492	Human	1	name
8560154	CV22900	single nucleotide variant	NM_006949.4(STXBP2):c.626T>C (p.Leu209Pro)	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE [RCV000008311]	pathogenic	19	7642081	7642081	Human		name
329395874	CV2463030	single nucleotide variant	NM_006949.4(STXBP2):c.976C>G (p.Leu326Val)	Inborn genetic diseases [RCV003219299]	uncertain significance	19	7642998	7642998	Human	1	name
11643005	CV270572	single nucleotide variant	NM_006949.4(STXBP2):c.358C>T (p.Arg120Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000647329]\|not provided [RCV000386108]	uncertain significance	19	7640932	7640932	Human	1	name
401865279	CV2791590	single nucleotide variant	NM_006949.4(STXBP2):c.853G>C (p.Asp285His)	Inborn genetic diseases [RCV003379317]	uncertain significance	19	7642487	7642487	Human	1	name
401926033	CV2803229	single nucleotide variant	NM_006949.4(STXBP2):c.896T>A (p.Val299Glu)	STXBP2-related disorder [RCV003405832]	uncertain significance	19	7642530	7642530	Human		name , trait , alternate_id
401944405	CV2836651	deletion	NM_006949.4(STXBP2):c.1179del (p.Leu394fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003463581]	likely pathogenic	19	7644685	7644685	Human	1	name
401944385	CV2836657	duplication	NM_006949.4(STXBP2):c.1210dup (p.Ile404fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003463587]	likely pathogenic	19	7644715	7644716	Human	1	name
404988127	CV2849539	insertion	NM_006949.4(STXBP2):c.247-373_247-372insCA	not specified [RCV003490396]	benign	19	7640358	7640359	Human		name
405048794	CV2900703	duplication	NM_006949.4(STXBP2):c.1116dup (p.Met373fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531046]	pathogenic	19	7644620	7644621	Human	1	name
405051306	CV2913519	single nucleotide variant	NM_006949.4(STXBP2):c.661G>T (p.Glu221Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531209]	pathogenic	19	7642116	7642116	Human	1	name
405051804	CV2920329	single nucleotide variant	NM_006949.4(STXBP2):c.803C>A (p.Thr268Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531245]	uncertain significance	19	7642437	7642437	Human	1	name
402504974	CV2950423	deletion	NM_006949.4(STXBP2):c.1382del (p.Glu461fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645450]	pathogenic	19	7646274	7646274	Human	1	name
402506438	CV2984048	single nucleotide variant	NM_006949.4(STXBP2):c.746T>C (p.Phe249Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645597]	uncertain significance	19	7642285	7642285	Human	1	name
402500560	CV3072918	single nucleotide variant	NM_006949.4(STXBP2):c.386C>T (p.Thr129Met)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644838]	uncertain significance	19	7640960	7640960	Human	1	name
405780952	CV3331077	single nucleotide variant	NM_006949.4(STXBP2):c.343T>C (p.Phe115Leu)	Inborn genetic diseases [RCV004458655]	uncertain significance	19	7640917	7640917	Human	1	name
405780963	CV3331079	single nucleotide variant	NM_006949.4(STXBP2):c.589G>A (p.Asp197Asn)	Inborn genetic diseases [RCV004458657]	uncertain significance	19	7642044	7642044	Human	1	name
11614948	CV334731	single nucleotide variant	NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000927651]\|Familial hemophagocytic lymphohistiocytosis [RCV000281145]\|STXBP2-related disorder [RCV003922410]\|not specified [RCV001821004]	likely benign\|uncertain significance	19	7642777	7642777	Human	2	name , alternate_id
11627519	CV349574	single nucleotide variant	NM_006949.4(STXBP2):c.613G>A (p.Val205Ile)	Autoinflammatory syndrome [RCV002263592]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV001083601]\|not provided [RCV000514754]	benign\|likely benign	19	7642068	7642068	Human	2	name
11629308	CV349575	single nucleotide variant	NM_006949.4(STXBP2):c.808G>A (p.Gly270Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000320628]	uncertain significance	19	7642442	7642442	Human	1	name
407507846	CV3496301	single nucleotide variant	NM_006949.4(STXBP2):c.703C>T (p.Arg235Trp)	not provided [RCV004698142]\|not specified [RCV004783145]	likely pathogenic\|uncertain significance	19	7642242	7642242	Human		name
408369229	CV3502766	single nucleotide variant	NM_006949.4(STXBP2):c.523C>G (p.Gln175Glu)	not provided [RCV004723887]	uncertain significance	19	7641798	7641798	Human		name
408383826	CV3525860	single nucleotide variant	NM_006949.4(STXBP2):c.971A>G (p.Lys324Arg)	not specified [RCV004766770]	uncertain significance	19	7642993	7642993	Human		name
596926124	CV3539742	single nucleotide variant	NM_006949.4(STXBP2):c.687G>C (p.Gln229His)	not provided [RCV004790733]	uncertain significance	19	7642226	7642226	Human		name
596946126	CV3550410	single nucleotide variant	NM_006949.4(STXBP2):c.823C>T (p.Arg275Trp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV004818951]	uncertain significance	19	7642457	7642457	Human	1	name
597633663	CV3615218	single nucleotide variant	NM_006949.4(STXBP2):c.675A>T (p.Lys225Asn)	Inborn genetic diseases [RCV004969147]	uncertain significance	19	7642214	7642214	Human	1	name
597873321	CV3805466	single nucleotide variant	NM_006949.4(STXBP2):c.558C>G (p.Tyr186Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005148744]	pathogenic	19	7641833	7641833	Human	1	name
597853249	CV3825153	single nucleotide variant	NM_006949.4(STXBP2):c.524A>G (p.Gln175Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005174001]	uncertain significance	19	7641799	7641799	Human	1	name
597835750	CV3828286	single nucleotide variant	NM_006949.4(STXBP2):c.854A>T (p.Asp285Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005171178]	uncertain significance	19	7642488	7642488	Human	1	name
597911290	CV3850468	single nucleotide variant	NM_006949.4(STXBP2):c.416C>G (p.Pro139Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005203616]	likely pathogenic	19	7640990	7640990	Human	1	name
597861367	CV3850770	single nucleotide variant	NM_006949.4(STXBP2):c.462C>A (p.Tyr154Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005195903]	pathogenic	19	7641737	7641737	Human	1	name
597885395	CV3854809	deletion	NM_006949.4(STXBP2):c.1076del (p.Gly359fs)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005199654]	pathogenic	19	7643212	7643212	Human	1	name
597891327	CV3856459	single nucleotide variant	NM_006949.4(STXBP2):c.322G>C (p.Asp108His)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005200523]	uncertain significance	19	7640806	7640806	Human	1	name
598251954	CV3916127	single nucleotide variant	NM_006949.4(STXBP2):c.361T>G (p.Ser121Ala)	Inborn genetic diseases [RCV005277996]	uncertain significance	19	7640935	7640935	Human	1	name
598251957	CV3916128	single nucleotide variant	NM_006949.4(STXBP2):c.470A>G (p.Tyr157Cys)	Inborn genetic diseases [RCV005277997]	uncertain significance	19	7641745	7641745	Human	1	name
598220557	CV3916129	single nucleotide variant	NM_006949.4(STXBP2):c.980C>T (p.Ser327Phe)	Inborn genetic diseases [RCV005293507]	uncertain significance	19	7643002	7643002	Human	1	name
616938237	CV4013092	single nucleotide variant	NM_006949.4(STXBP2):c.801G>C (p.Glu267Asp)	not provided [RCV005410559]	uncertain significance	19	7642435	7642435	Human		name
12892770	CV404841	single nucleotide variant	NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000477888]\|not provided [RCV000658815]\|not specified [RCV004526685]	conflicting interpretations of pathogenicity\|uncertain significance	19	7641843	7641843	Human	1	name
13215409	CV430277	single nucleotide variant	NM_006949.4(STXBP2):c.497C>T (p.Thr166Met)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000960504]\|not specified [RCV000502479]	benign\|likely benign	19	7641772	7641772	Human	1	name
13620138	CV533424	single nucleotide variant	NM_006949.4(STXBP2):c.365G>A (p.Arg122His)	Autoinflammatory syndrome [RCV002263901]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000647332]\|STXBP2-related disorder [RCV003918052]\|not provided [RCV001756079]\|not specified [RCV002271545]	benign\|likely benign\|uncertain significance	19	7640939	7640939	Human	2	name , alternate_id
13620129	CV533489	single nucleotide variant	NM_006949.4(STXBP2):c.680G>A (p.Arg227His)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000647325]	uncertain significance	19	7642219	7642219	Human	1	name
13810027	CV572831	single nucleotide variant	NM_006949.4(STXBP2):c.661G>A (p.Glu221Lys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000688038]\|Inborn genetic diseases [RCV002544795]\|not provided [RCV002289961]	likely benign\|uncertain significance	19	7642116	7642116	Human	2	name
13814610	CV572832	single nucleotide variant	NM_006949.4(STXBP2):c.784G>A (p.Asp262Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000705154]\|Inborn genetic diseases [RCV002533730]	uncertain significance	19	7642323	7642323	Human	2	name
13811607	CV573435	single nucleotide variant	NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000703150]\|Familial hemophagocytic lymphohistiocytosis [RCV002307603]\|Inborn genetic diseases [RCV005286189]\|not provided [RCV002274091]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	7640963	7640963	Human	3	name
13832899	CV584124	single nucleotide variant	NM_006949.4(STXBP2):c.743C>T (p.Thr248Met)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001063092]\|not provided [RCV000727992]	uncertain significance	19	7642282	7642282	Human	1	name
14701838	CV648530	single nucleotide variant	NM_006949.4(STXBP2):c.403C>T (p.Leu135Phe)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000806556]	uncertain significance	19	7640977	7640977	Human	1	name
14728282	CV648532	single nucleotide variant	NM_006949.4(STXBP2):c.575G>A (p.Arg192His)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000816445]\|not provided [RCV001796249]	uncertain significance	19	7641850	7641850	Human	1	name
14706266	CV648533	single nucleotide variant	NM_006949.4(STXBP2):c.579G>T (p.Lys193Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000791945]	uncertain significance	19	7642034	7642034	Human	1	name
14703705	CV648534	single nucleotide variant	NM_006949.4(STXBP2):c.776T>C (p.Ile259Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000807494]\|Inborn genetic diseases [RCV004028616]	uncertain significance	19	7642315	7642315	Human	2	name
14711730	CV648535	single nucleotide variant	NM_006949.4(STXBP2):c.824G>A (p.Arg275Gln)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000810052]	uncertain significance	19	7642458	7642458	Human	1	name
14734633	CV648536	single nucleotide variant	NM_006949.4(STXBP2):c.835G>A (p.Val279Ile)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000802820]\|Inborn genetic diseases [RCV002534723]	uncertain significance	19	7642469	7642469	Human	2	name
14710764	CV648537	single nucleotide variant	NM_006949.4(STXBP2):c.938G>A (p.Ser313Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000809710]	uncertain significance	19	7642801	7642801	Human	1	name
15099905	CV728489	single nucleotide variant	NM_006949.4(STXBP2):c.820G>T (p.Ala274Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000892019]\|STXBP2-related disorder [RCV003975638]	likely benign	19	7642454	7642454	Human	1	name , alternate_id
15165768	CV742213	single nucleotide variant	NM_006949.4(STXBP2):c.953C>T (p.Thr318Met)	Autoinflammatory syndrome [RCV002264074]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000904295]\|not provided [RCV003222169]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7642816	7642816	Human	2	name
26897863	CV848160	single nucleotide variant	NM_006949.4(STXBP2):c.499C>T (p.Arg167Trp)	Abnormal bleeding [RCV001270552]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV001048716]\|Inborn genetic diseases [RCV005286283]\|not specified [RCV004587023]	uncertain significance	19	7641774	7641774	Human	5	name
26912774	CV848161	single nucleotide variant	NM_006949.4(STXBP2):c.500G>C (p.Arg167Pro)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001053829]	uncertain significance	19	7641775	7641775	Human	1	name
26920148	CV848162	single nucleotide variant	NM_006949.4(STXBP2):c.503A>G (p.Gln168Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001059678]	uncertain significance	19	7641778	7641778	Human	1	name
26900637	CV848163	single nucleotide variant	NM_006949.4(STXBP2):c.569G>A (p.Arg190His)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001035378]	uncertain significance	19	7641844	7641844	Human	1	name
26916599	CV848164	single nucleotide variant	NM_006949.4(STXBP2):c.610G>A (p.Ala204Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001056448]\|not provided [RCV004792691]	uncertain significance	19	7642065	7642065	Human	1	name
26920086	CV848165	single nucleotide variant	NM_006949.4(STXBP2):c.631G>A (p.Ala211Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001059621]	uncertain significance	19	7642086	7642086	Human	1	name
26895519	CV848166	single nucleotide variant	NM_006949.4(STXBP2):c.649C>T (p.Pro217Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001047923]	uncertain significance	19	7642104	7642104	Human	1	name
26889068	CV848167	single nucleotide variant	NM_006949.4(STXBP2):c.698T>C (p.Met233Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001045485]	uncertain significance	19	7642237	7642237	Human	1	name
26888416	CV848169	single nucleotide variant	NM_006949.4(STXBP2):c.817G>A (p.Glu273Lys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001045271]	uncertain significance	19	7642451	7642451	Human	1	name
26913319	CV848170	single nucleotide variant	NM_006949.4(STXBP2):c.869A>G (p.Glu290Gly)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001039958]\|Inborn genetic diseases [RCV004671182]	uncertain significance	19	7642503	7642503	Human	2	name
28867343	CV882729	single nucleotide variant	NM_006949.4(STXBP2):c.603G>T (p.Leu201Phe)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001129152]	likely benign\|conflicting interpretations of pathogenicity	19	7642058	7642058	Human	1	name
28871548	CV882730	single nucleotide variant	NM_006949.4(STXBP2):c.679C>T (p.Arg227Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001131833]	uncertain significance	19	7642218	7642218	Human	1	name
28873456	CV882731	single nucleotide variant	NM_006949.4(STXBP2):c.911C>T (p.Thr304Met)	Abnormal bleeding [RCV001270558]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV001132828]	uncertain significance	19	7642774	7642774	Human	4	name
38470523	CV938895	single nucleotide variant	NM_006949.4(STXBP2):c.702C>G (p.Asp234Glu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001213588]	uncertain significance	19	7642241	7642241	Human	1	name
38470207	CV950964	single nucleotide variant	NM_006949.4(STXBP2):c.658G>A (p.Gly220Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001230917]\|Inborn genetic diseases [RCV004671278]	uncertain significance	19	7642113	7642113	Human	2	name
38459942	CV950965	single nucleotide variant	NM_006949.4(STXBP2):c.847G>A (p.Glu283Lys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001229245]	uncertain significance	19	7642481	7642481	Human	1	name
38480862	CV950966	single nucleotide variant	NM_006949.4(STXBP2):c.939C>A (p.Ser313Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001234876]	uncertain significance	19	7642802	7642802	Human	1	name
38470391	CV958764	single nucleotide variant	NM_006949.4(STXBP2):c.514C>G (p.Leu172Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001248395]\|Inborn genetic diseases [RCV004035279]	uncertain significance	19	7641789	7641789	Human	2	name
38498231	CV958765	single nucleotide variant	NM_006949.4(STXBP2):c.533C>T (p.Thr178Met)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001243664]\|Inborn genetic diseases [RCV003284114]	uncertain significance	19	7641808	7641808	Human	2	name
126749374	CV998868	single nucleotide variant	NM_006949.4(STXBP2):c.494G>A (p.Arg165His)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001306619]\|Inborn genetic diseases [RCV002543170]\|not provided [RCV004704518]	likely benign\|uncertain significance	19	7641769	7641769	Human	2	name
126754358	CV998869	single nucleotide variant	NM_006949.4(STXBP2):c.704G>A (p.Arg235Gln)	Autoinflammatory syndrome [RCV002264259]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV001298110]	likely pathogenic\|uncertain significance	19	7642243	7642243	Human	2	name
156404855	CV1883568	single nucleotide variant	NM_006949.4(STXBP2):c.1546T>C (p.Phe516Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003069844]	uncertain significance	19	7647361	7647361	Human	1	name
156376964	CV1913839	single nucleotide variant	NM_006949.4(STXBP2):c.1009C>T (p.Gln337Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002603661]	pathogenic	19	7643031	7643031	Human	1	name
156418090	CV1914407	single nucleotide variant	NM_006949.4(STXBP2):c.1750G>A (p.Asp584Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002611265]	uncertain significance	19	7647778	7647778	Human	1	name
156419062	CV1929300	single nucleotide variant	NM_006949.4(STXBP2):c.1274T>C (p.Leu425Pro)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002612279]	uncertain significance	19	7645224	7645224	Human	1	name
156410231	CV1932228	single nucleotide variant	NM_006949.4(STXBP2):c.1135G>C (p.Gly379Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002607804]\|Inborn genetic diseases [RCV004070656]	uncertain significance	19	7644641	7644641	Human	2	name
156440762	CV1940535	single nucleotide variant	NM_006949.4(STXBP2):c.1580A>G (p.Glu527Gly)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003110802]\|Inborn genetic diseases [RCV004244549]	uncertain significance	19	7647395	7647395	Human	2	name
156446906	CV1948592	single nucleotide variant	NM_006949.4(STXBP2):c.1589C>T (p.Ala530Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003118425]	uncertain significance	19	7647404	7647404	Human	1	name
156446014	CV1951093	single nucleotide variant	NM_006949.4(STXBP2):c.1363G>C (p.Gly455Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003116977]	uncertain significance	19	7646255	7646255	Human	1	name
156403204	CV1993115	single nucleotide variant	NM_006949.4(STXBP2):c.1693A>G (p.Ile565Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002657803]	uncertain significance	19	7647508	7647508	Human	1	name
156350514	CV2005691	single nucleotide variant	NM_006949.4(STXBP2):c.1259A>G (p.Glu420Gly)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002650847]	uncertain significance	19	7645209	7645209	Human	1	name
156330225	CV2094741	single nucleotide variant	NM_006949.4(STXBP2):c.1135G>A (p.Gly379Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002899877]	uncertain significance	19	7644641	7644641	Human	1	name
8560151	CV22897	single nucleotide variant	NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000008308]\|STXBP2-related disorder [RCV003924815]	pathogenic	19	7646322	7646322	Human	1	name , alternate_id
156327750	CV2332144	single nucleotide variant	NM_006949.4(STXBP2):c.1724G>A (p.Arg575His)	Inborn genetic diseases [RCV002963804]	uncertain significance	19	7647752	7647752	Human	1	name
401945458	CV2836670	single nucleotide variant	NM_006949.4(STXBP2):c.1611T>G (p.Tyr537Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003464657]	likely pathogenic	19	7647426	7647426	Human	1	name
405041859	CV2855826	single nucleotide variant	NM_006949.4(STXBP2):c.1384C>G (p.Pro462Ala)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530488]	uncertain significance	19	7646276	7646276	Human	1	name
405049224	CV2901221	single nucleotide variant	NM_006949.4(STXBP2):c.1008C>G (p.Tyr336Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531077]	pathogenic	19	7643030	7643030	Human	1	name
405047972	CV2905341	single nucleotide variant	NM_006949.4(STXBP2):c.1294C>T (p.Gln432Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530960]	pathogenic	19	7645244	7645244	Human	1	name
405049527	CV2911589	single nucleotide variant	NM_006949.4(STXBP2):c.1373G>C (p.Ser458Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531099]	uncertain significance	19	7646265	7646265	Human	1	name
405049539	CV2911590	single nucleotide variant	NM_006949.4(STXBP2):c.1397T>C (p.Met466Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003531100]	uncertain significance	19	7646289	7646289	Human	1	name
405036925	CV2924288	indel	NM_006949.4(STXBP2):c.325+18_325+19delinsCA	Familial hemophagocytic lymphohistiocytosis 5 [RCV003529901]	uncertain significance	19	7640827	7640828	Human		name
402504467	CV2944163	single nucleotide variant	NM_006949.4(STXBP2):c.1003C>T (p.Gln335Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645402]	pathogenic	19	7643025	7643025	Human	1	name
402508201	CV3001310	single nucleotide variant	NM_006949.4(STXBP2):c.1033A>T (p.Thr345Ser)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003645761]	uncertain significance	19	7643171	7643171	Human	1	name
402498557	CV3024890	single nucleotide variant	NM_006949.4(STXBP2):c.1049C>T (p.Ala350Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644638]	uncertain significance	19	7643187	7643187	Human	1	name
402499587	CV3035220	single nucleotide variant	NM_006949.4(STXBP2):c.1503C>A (p.Asp501Glu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV003644738]	uncertain significance	19	7647212	7647212	Human	1	name
405855015	CV3395541	single nucleotide variant	NM_006949.4(STXBP2):c.1424G>A (p.Trp475Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV004555789]	likely pathogenic	19	7646316	7646316	Human	1	name
596926129	CV3539743	single nucleotide variant	NM_006949.4(STXBP2):c.1494C>A (p.Phe498Leu)	not provided [RCV004790734]	uncertain significance	19	7647203	7647203	Human		name
596926133	CV3539744	single nucleotide variant	NM_006949.4(STXBP2):c.1520G>A (p.Ser507Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005061437]\|not provided [RCV004790735]	uncertain significance	19	7647229	7647229	Human	1	name
597633655	CV3615216	single nucleotide variant	NM_006949.4(STXBP2):c.1019T>C (p.Leu340Pro)	Inborn genetic diseases [RCV004969145]	uncertain significance	19	7643041	7643041	Human	1	name
597633660	CV3615217	single nucleotide variant	NM_006949.4(STXBP2):c.1763A>C (p.Glu588Ala)	Inborn genetic diseases [RCV004969146]	uncertain significance	19	7647791	7647791	Human	1	name
597633669	CV3615219	single nucleotide variant	NM_006949.4(STXBP2):c.1349A>T (p.Asn450Ile)	Inborn genetic diseases [RCV004969148]	uncertain significance	19	7645299	7645299	Human	1	name
597967182	CV3794434	single nucleotide variant	NM_006949.4(STXBP2):c.1534G>A (p.Val512Ile)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005140610]	uncertain significance	19	7647243	7647243	Human	1	name
597879551	CV3813831	single nucleotide variant	NM_006949.4(STXBP2):c.1615A>G (p.Met539Val)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005149574]	uncertain significance	19	7647430	7647430	Human	1	name
597931841	CV3827161	single nucleotide variant	NM_006949.4(STXBP2):c.1453G>T (p.Asp485Tyr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005157174]	uncertain significance	19	7647162	7647162	Human	1	name
597899150	CV3854639	single nucleotide variant	NM_006949.4(STXBP2):c.1556G>A (p.Trp519Ter)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005201747]	pathogenic	19	7647371	7647371	Human	1	name
597891322	CV3856460	single nucleotide variant	NM_006949.4(STXBP2):c.1450G>A (p.Glu484Lys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005200525]	uncertain significance	19	7646342	7646342	Human	1	name
597888456	CV3859504	single nucleotide variant	NM_006949.4(STXBP2):c.1526A>G (p.Gln509Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV005200160]	uncertain significance	19	7647235	7647235	Human	1	name
598251961	CV3916130	single nucleotide variant	NM_006949.4(STXBP2):c.1566C>G (p.Asn522Lys)	Inborn genetic diseases [RCV005277998]	uncertain significance	19	7647381	7647381	Human	1	name
8568932	CV39175	single nucleotide variant	NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	Autoinflammatory syndrome [RCV002262571]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000024317]\|Familial hemophagocytic lymphohistiocytosis [RCV003226166]\|STXBP2-related disorder [RCV003398562]\|not provided [RCV000519780]	pathogenic\|likely pathogenic	19	7647436	7647436	Human	3	name , alternate_id
26916890	CV848171	single nucleotide variant	NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001056642]\|not provided [RCV003480935]\|not specified [RCV001553694]	pathogenic\|likely pathogenic\|uncertain significance	19	7643023	7643023	Human	1	name
26923635	CV848172	single nucleotide variant	NM_006949.4(STXBP2):c.1156A>C (p.Met386Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001064356]	uncertain significance	19	7644662	7644662	Human	1	name
26923519	CV848173	single nucleotide variant	NM_006949.4(STXBP2):c.1204G>A (p.Asp402Asn)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001064143]	likely benign\|uncertain significance	19	7644710	7644710	Human	1	name
26886679	CV848174	single nucleotide variant	NM_006949.4(STXBP2):c.1268C>A (p.Ala423Asp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001066213]	uncertain significance	19	7645218	7645218	Human	1	name
26898648	CV848176	single nucleotide variant	NM_006949.4(STXBP2):c.1370C>G (p.Ser457Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001048962]	uncertain significance	19	7646262	7646262	Human	1	name
26905677	CV848177	single nucleotide variant	NM_006949.4(STXBP2):c.1495G>A (p.Val499Ile)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001037139]\|Inborn genetic diseases [RCV003283877]\|not provided [RCV001507405]	uncertain significance	19	7647204	7647204	Human	2	name
26890961	CV848178	single nucleotide variant	NM_006949.4(STXBP2):c.1585C>T (p.Arg529Trp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001046235]	uncertain significance	19	7647400	7647400	Human	1	name
26889624	CV848179	single nucleotide variant	NM_006949.4(STXBP2):c.1718C>T (p.Pro573Leu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001045702]\|not provided [RCV002264153]\|not specified [RCV004702598]	uncertain significance	19	7647746	7647746	Human	1	name
26897091	CV848180	single nucleotide variant	NM_006949.4(STXBP2):c.1742A>G (p.Lys581Arg)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001048365]	uncertain significance	19	7647770	7647770	Human	1	name
26901990	CV848181	single nucleotide variant	NM_006949.4(STXBP2):c.1772C>A (p.Ala591Asp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001050071]\|not provided [RCV004693516]\|not specified [RCV004526073]	likely benign\|uncertain significance	19	7647800	7647800	Human	1	name
28871763	CV882733	single nucleotide variant	NM_006949.4(STXBP2):c.1456G>A (p.Ala486Thr)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001131959]\|Inborn genetic diseases [RCV003246712]	uncertain significance	19	7647165	7647165	Human	2	name
28871767	CV882734	single nucleotide variant	NM_006949.4(STXBP2):c.1502A>C (p.Asp501Ala)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001131960]\|not provided [RCV001507406]	uncertain significance	19	7647211	7647211	Human	1	name
38481191	CV929132	single nucleotide variant	NM_006949.4(STXBP2):c.1135G>T (p.Gly379Trp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001217896]	uncertain significance	19	7644641	7644641	Human	1	name
38470887	CV950967	single nucleotide variant	NM_006949.4(STXBP2):c.1136G>A (p.Gly379Glu)	Familial hemophagocytic lymphohistiocytosis 5 [RCV001231046]	uncertain significance	19	7644642	7644642	Human	1	name
152982545	CV1677474	single nucleotide variant	NM_006949.4(STXBP2):c.1115C>A (p.Ala372Asp)	Familial hemophagocytic lymphohistiocytosis 5 [RCV002249183]\|STXBP2-related disorder [RCV003408181]	likely pathogenic\|uncertain significance	19	7644621	7644621	Human	1	alternate_id
401906082	CV2802330	single nucleotide variant	NM_006949.4(STXBP2):c.1301A>G (p.His434Arg)	STXBP2-related disorder [RCV003421019]	uncertain significance	19	7645251	7645251	Human		trait , alternate_id
11626108	CV334735	single nucleotide variant	NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp)	Autoinflammatory syndrome [RCV002263595]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000406902]\|STXBP2-related disorder [RCV003957699]\|not provided [RCV003884492]\|not specified [RCV001821006]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7646267	7646267	Human	2	alternate_id
11630935	CV344553	single nucleotide variant	NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)	Abnormal bleeding [RCV001270501]\|Autoinflammatory syndrome [RCV002263597]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000529971]\|Familial hemophagocytic lymphohistiocytosis [RCV000363044]\|STXBP2-related disorder [RCV003401347]\|not provided [RCV001753791]\|n ... (more) ot specified [RCV001821007]	association\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	7647401	7647401	Human	7	alternate_id
11629285	CV349585	single nucleotide variant	NM_006949.4(STXBP2):c.1723C>T (p.Arg575Cys)	Familial hemophagocytic lymphohistiocytosis 5 [RCV000320237]\|STXBP2-related disorder [RCV004751476]\|not provided [RCV004791414]	uncertain significance	19	7647751	7647751	Human	1	alternate_id
15103232	CV728491	single nucleotide variant	NM_006949.4(STXBP2):c.1459G>A (p.Val487Met)	Autoinflammatory syndrome [RCV002264054]\|Familial hemophagocytic lymphohistiocytosis 5 [RCV000892632]\|STXBP2-related disorder [RCV003930830]	likely benign\|uncertain significance	19	7647168	7647168	Human	2	alternate_id
405040953	CV2861548	indel	NM_006949.4(STXBP2):c.37+596_82delinsCAGCTCTGAGGCATGCCTAGCTGAGGCTATCCCACTGACCTCCGGTCTCAGTTTCCTCATCTGTAAAATGGAATCACTTTTTTCTAATCTCCCCCAATTAAAGGGGTTTGAGCTACAGACCGCCCTGCCTAGAGGAGAGAGTGGAGAGAAGTAACGGGGTGGCCCCGCCCAGCCACGTCCACTGTGTCATGTCCACTGTTATCAAGACGGCCAG	Familial hemophagocytic lymphohistiocytosis 5 [RCV003530413]	likely pathogenic	19	7637782	7638770	Human		name

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