ClinVar for MedGen (Select 416514) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25826231.	NM_006949.4(STXBP2):c.1722_1723insTCAC (p.Arg575fs) GRCh37: Chr19:7712635-7712636 GRCh38: Chr19:7647749-7647750	STXBP2	R543fs, R572fs, R575fs, R586fs	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Aug 29, 2023)	criteria provided, single submitter
Select item 25778772.	NM_006949.4(STXBP2):c.58C>T (p.Arg20Trp) GRCh37: Chr19:7703632 GRCh38: Chr19:7638746	STXBP2	R20W	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance	criteria provided, single submitter
Select item 24365183.	NM_006949.4(STXBP2):c.1538+12G>C GRCh37: Chr19:7712145 GRCh38: Chr19:7647259	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Mar 23, 2020)	criteria provided, single submitter
Select item 24280064.	NM_006949.4(STXBP2):c.1363G>C (p.Gly455Arg) GRCh37: Chr19:7711141 GRCh38: Chr19:7646255	STXBP2	G423R, G452R, G455R, G466R	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 24256745.	NC_000019.9:g.(?_7703306)_(7707110_?)del GRCh37: Chr19:7703306-7707110	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely pathogenic (Dec 19, 2021)	criteria provided, single submitter
Select item 24199006.	NM_006949.4(STXBP2):c.1589C>T (p.Ala530Val) GRCh37: Chr19:7712290 GRCh38: Chr19:7647404	STXBP2	A498V, A527V, A530V, A541V	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 24153837.	NM_006949.4(STXBP2):c.1580A>G (p.Glu527Gly) GRCh37: Chr19:7712281 GRCh38: Chr19:7647395	STXBP2	E495G, E524G, E527G, E538G	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 24134788.	NM_006949.4(STXBP2):c.901_902delinsCC (p.Lys301Pro) GRCh37: Chr19:7707421-7707422 GRCh38: Chr19:7642535-7642536	STXBP2	K269P, K298P, K301P, K312P	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 22021329.	NM_006949.4(STXBP2):c.663+10C>A GRCh37: Chr19:7707014 GRCh38: Chr19:7642128	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 220074210.	NM_006949.4(STXBP2):c.1212C>T (p.Ile404=) GRCh37: Chr19:7709604 GRCh38: Chr19:7644718	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 219890411.	NM_006949.4(STXBP2):c.852C>T (p.Asp284=) GRCh37: Chr19:7707372 GRCh38: Chr19:7642486	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 219816612.	NM_006949.4(STXBP2):c.1027-17C>A GRCh37: Chr19:7708034 GRCh38: Chr19:7643148	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 219714613.	NM_006949.4(STXBP2):c.902+13G>A GRCh37: Chr19:7707435 GRCh38: Chr19:7642549	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 219548414.	NM_006949.4(STXBP2):c.834C>T (p.Ala278=) GRCh37: Chr19:7707354 GRCh38: Chr19:7642468	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 219543815.	NM_006949.4(STXBP2):c.560C>T (p.Pro187Leu) GRCh37: Chr19:7706721 GRCh38: Chr19:7641835	STXBP2	P155L, P184L, P198L, P187L	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 219459716.	NM_006949.4(STXBP2):c.1121G>A (p.Gly374Asp) GRCh37: Chr19:7709513 GRCh38: Chr19:7644627	STXBP2	G371D, G385D, G342D, G374D	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 219437817.	NM_006949.4(STXBP2):c.1508C>T (p.Ala503Val) GRCh37: Chr19:7712103 GRCh38: Chr19:7647217	STXBP2	A514V, A471V, A500V, A503V	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 219362418.	NM_006949.4(STXBP2):c.1274T>C (p.Leu425Pro) GRCh37: Chr19:7710110 GRCh38: Chr19:7645224	STXBP2	L425P, L436P, L393P, L422P	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 219307919.	NM_006949.4(STXBP2):c.1135G>C (p.Gly379Arg) GRCh37: Chr19:7709527 GRCh38: Chr19:7644641	STXBP2	G347R, G390R, G376R, G379R	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 219109020.	NM_006949.4(STXBP2):c.325+7G>A GRCh37: Chr19:7705702 GRCh38: Chr19:7640816	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 218868521.	NM_006949.4(STXBP2):c.414C>T (p.Leu138=) GRCh37: Chr19:7705874 GRCh38: Chr19:7640988	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 218699722.	NM_006949.4(STXBP2):c.1750G>A (p.Asp584Asn) GRCh37: Chr19:7712664 GRCh38: Chr19:7647778	STXBP2	D581N, D595N, D552N, D584N	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 218513623.	NM_006949.4(STXBP2):c.1009C>T (p.Gln337Ter) GRCh37: Chr19:7707917 GRCh38: Chr19:7643031	STXBP2	Q348, Q334, Q305, Q337	Familial hemophagocytic lymphohistiocytosis 5	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 217126924.	NM_006949.4(STXBP2):c.1107+17G>T GRCh37: Chr19:7708148 GRCh38: Chr19:7643262	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 217118325.	NM_006949.4(STXBP2):c.1171C>G (p.Pro391Ala) GRCh37: Chr19:7709563 GRCh38: Chr19:7644677	STXBP2	P402A, P391A, P359A, P388A	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 217007826.	NM_006949.4(STXBP2):c.1073A>G (p.Lys358Arg) GRCh37: Chr19:7708097 GRCh38: Chr19:7643211	STXBP2	K355R, K358R, K326R, K369R	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 216908027.	NM_006949.4(STXBP2):c.960+8C>T GRCh37: Chr19:7707717 GRCh38: Chr19:7642831	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 216683028.	NM_006949.4(STXBP2):c.892G>A (p.Asp298Asn) GRCh37: Chr19:7707412 GRCh38: Chr19:7642526	STXBP2	D266N, D295N, D298N, D309N	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 216635929.	NM_006949.4(STXBP2):c.1623T>C (p.Gly541=) GRCh37: Chr19:7712324 GRCh38: Chr19:7647438	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 216398230.	NM_006949.4(STXBP2):c.795-8C>T GRCh37: Chr19:7707307 GRCh38: Chr19:7642421	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 216046731.	NM_006949.4(STXBP2):c.180C>T (p.Asp60=) GRCh37: Chr19:7704627 GRCh38: Chr19:7639741	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 215858632.	NM_006949.4(STXBP2):c.1546T>C (p.Phe516Leu) GRCh37: Chr19:7712247 GRCh38: Chr19:7647361	STXBP2	F513L, F527L, F516L, F484L	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 215807933.	NM_006949.4(STXBP2):c.430-19C>T GRCh37: Chr19:7706572 GRCh38: Chr19:7641686	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 215444834.	NM_006949.4(STXBP2):c.903-16_903-15insT GRCh37: Chr19:7707636-7707637 GRCh38: Chr19:7642750-7642751	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 215276035.	NM_006949.4(STXBP2):c.342G>A (p.Leu114=) GRCh37: Chr19:7705802 GRCh38: Chr19:7640916	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 215076236.	NM_006949.4(STXBP2):c.660C>T (p.Gly220=) GRCh37: Chr19:7707001 GRCh38: Chr19:7642115	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 214876937.	NM_006949.4(STXBP2):c.578+9C>G GRCh37: Chr19:7706748 GRCh38: Chr19:7641862	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 214378738.	NM_006949.4(STXBP2):c.170-18T>C GRCh37: Chr19:7704599 GRCh38: Chr19:7639713	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 214325339.	NM_006949.4(STXBP2):c.1698C>A (p.Gly566=) GRCh37: Chr19:7712612 GRCh38: Chr19:7647726	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 213820340.	NM_006949.4(STXBP2):c.1452+1G>A GRCh37: Chr19:7711231 GRCh38: Chr19:7646345	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 213242641.	NM_006949.4(STXBP2):c.430-9C>T GRCh37: Chr19:7706582 GRCh38: Chr19:7641696	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 213061142.	NM_006949.4(STXBP2):c.1444G>A (p.Val482Ile) GRCh37: Chr19:7711222 GRCh38: Chr19:7646336	STXBP2	V482I, V450I, V479I, V493I	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 213040943.	NM_006949.4(STXBP2):c.663+19G>A GRCh37: Chr19:7707023 GRCh38: Chr19:7642137	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 212553744.	NM_006949.4(STXBP2):c.858C>G (p.Asp286Glu) GRCh37: Chr19:7707378 GRCh38: Chr19:7642492	STXBP2	D254E, D286E, D283E, D297E	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 212161545.	NM_006949.4(STXBP2):c.1107+6G>C GRCh37: Chr19:7708137 GRCh38: Chr19:7643251	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 212077046.	NM_006949.4(STXBP2):c.859_883del (p.Leu287fs) GRCh37: Chr19:7707378-7707402 GRCh38: Chr19:7642492-7642516	STXBP2	L287fs, L284fs, L298fs	Familial hemophagocytic lymphohistiocytosis 5	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 212060447.	NM_006949.4(STXBP2):c.921G>C (p.Leu307=) GRCh37: Chr19:7707670 GRCh38: Chr19:7642784	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211649348.	NM_006949.4(STXBP2):c.1653C>G (p.Tyr551Ter) GRCh37: Chr19:7712354 GRCh38: Chr19:7647468	STXBP2	Y551, Y548, Y562, Y519	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 211138449.	NM_006949.4(STXBP2):c.680G>T (p.Arg227Leu) GRCh37: Chr19:7707105 GRCh38: Chr19:7642219	STXBP2	R227L, R238L, R195L, R224L	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 211134350.	NM_006949.4(STXBP2):c.615C>T (p.Val205=) GRCh37: Chr19:7706956 GRCh38: Chr19:7642070	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 211077551.	NM_006949.4(STXBP2):c.87+16A>G GRCh37: Chr19:7703677 GRCh38: Chr19:7638791	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 211014652.	NM_006949.4(STXBP2):c.1697-12G>A GRCh37: Chr19:7712599 GRCh38: Chr19:7647713	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 210877853.	NM_006949.4(STXBP2):c.7C>T (p.Pro3Ser) GRCh37: Chr19:7702042 GRCh38: Chr19:7637156	STXBP2	P3S	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 210860954.	NM_006949.4(STXBP2):c.1114G>C (p.Ala372Pro) GRCh37: Chr19:7709506 GRCh38: Chr19:7644620	STXBP2	A369P, A383P, A372P, A340P	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 210576255.	NM_006949.4(STXBP2):c.261G>A (p.Leu87=) GRCh37: Chr19:7705631 GRCh38: Chr19:7640745	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 210329656.	NM_006949.4(STXBP2):c.761A>G (p.Tyr254Cys) GRCh37: Chr19:7707186 GRCh38: Chr19:7642300	STXBP2	Y222C, Y254C, Y251C, Y265C	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 210241157.	NM_006949.4(STXBP2):c.1661C>T (p.Thr554Ile) GRCh37: Chr19:7712362 GRCh38: Chr19:7647476	STXBP2	T565I, T522I, T551I, T554I	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 209719458.	NM_006949.4(STXBP2):c.1245T>C (p.Asn415=) GRCh37: Chr19:7709637 GRCh38: Chr19:7644751	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 209717459.	NM_006949.4(STXBP2):c.1538+21_1538+26del GRCh37: Chr19:7712148-7712153 GRCh38: Chr19:7647262-7647267	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 209625060.	NM_006949.4(STXBP2):c.244_246del (p.Lys82del) GRCh37: Chr19:7704689-7704691 GRCh38: Chr19:7639803-7639805	STXBP2	K50del, K82del	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209600361.	NM_006949.4(STXBP2):c.688C>T (p.Leu230=) GRCh37: Chr19:7707113 GRCh38: Chr19:7642227	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 209513262.	NM_006949.4(STXBP2):c.208A>G (p.Ser70Gly) GRCh37: Chr19:7704655 GRCh38: Chr19:7639769	STXBP2	S70G, S38G	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 209089763.	NM_006949.4(STXBP2):c.578A>G (p.Lys193Arg) GRCh37: Chr19:7706739 GRCh38: Chr19:7641853	STXBP2	K193R, K161R, K190R, K204R	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 208969364.	NM_006949.4(STXBP2):c.1745C>T (p.Ala582Val) GRCh37: Chr19:7712659 GRCh38: Chr19:7647773	STXBP2	A579V, A582V, A550V, A593V	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208889965.	NM_006949.4(STXBP2):c.1107+3G>A GRCh37: Chr19:7708134 GRCh38: Chr19:7643248	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 208875566.	NM_006949.4(STXBP2):c.420C>A (p.Tyr140Ter) GRCh37: Chr19:7705880 GRCh38: Chr19:7640994	STXBP2	Y151, Y108, Y137, Y140	Familial hemophagocytic lymphohistiocytosis 5	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 208872967.	NM_006949.4(STXBP2):c.910A>T (p.Thr304Ser) GRCh37: Chr19:7707659 GRCh38: Chr19:7642773	STXBP2	T315S, T272S, T301S, T304S	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 208810968.	NM_006949.4(STXBP2):c.1047A>C (p.Leu349=) GRCh37: Chr19:7708071 GRCh38: Chr19:7643185	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 208732869.	NM_006949.4(STXBP2):c.1357-7C>A GRCh37: Chr19:7711128 GRCh38: Chr19:7646242	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 208271470.	NM_006949.4(STXBP2):c.1476C>T (p.Asp492=) GRCh37: Chr19:7712071 GRCh38: Chr19:7647185	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 207778171.	NM_006949.4(STXBP2):c.384G>A (p.Lys128=) GRCh37: Chr19:7705844 GRCh38: Chr19:7640958	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 207463172.	NM_006949.4(STXBP2):c.1514C>A (p.Thr505Lys) GRCh37: Chr19:7712109 GRCh38: Chr19:7647223	STXBP2	T473K, T505K, T502K, T516K	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 207102373.	NM_006949.4(STXBP2):c.247-1G>T GRCh37: Chr19:7705616 GRCh38: Chr19:7640730	STXBP2	Q93H	Familial hemophagocytic lymphohistiocytosis 5	Likely pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 206955574.	NM_006949.4(STXBP2):c.534G>A (p.Thr178=) GRCh37: Chr19:7706695 GRCh38: Chr19:7641809	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 206571875.	NM_006949.4(STXBP2):c.363T>G (p.Ser121=) GRCh37: Chr19:7705823 GRCh38: Chr19:7640937	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 206356076.	NM_006949.4(STXBP2):c.430-14C>G GRCh37: Chr19:7706577 GRCh38: Chr19:7641691	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 206048077.	NM_006949.4(STXBP2):c.1027-7C>T GRCh37: Chr19:7708044 GRCh38: Chr19:7643158	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 205862778.	NM_006949.4(STXBP2):c.235C>T (p.Pro79Ser) GRCh37: Chr19:7704682 GRCh38: Chr19:7639796	STXBP2	P79S, P47S	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205775879.	NM_006949.4(STXBP2):c.445G>A (p.Ala149Thr) GRCh37: Chr19:7706606 GRCh38: Chr19:7641720	STXBP2	A117T, A146T, A160T, A149T	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205671280.	NM_006949.4(STXBP2):c.1428C>T (p.Thr476=) GRCh37: Chr19:7711206 GRCh38: Chr19:7646320	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 205523181.	NM_006949.4(STXBP2):c.540C>T (p.Cys180=) GRCh37: Chr19:7706701 GRCh38: Chr19:7641815	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 205286482.	NM_006949.4(STXBP2):c.1453-12C>T GRCh37: Chr19:7712036 GRCh38: Chr19:7647150	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 205141783.	NM_006949.4(STXBP2):c.1004A>G (p.Gln335Arg) GRCh37: Chr19:7707912 GRCh38: Chr19:7643026	STXBP2	Q303R, Q332R, Q335R, Q346R	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 204851084.	NM_006949.4(STXBP2):c.87+1G>A GRCh37: Chr19:7703662 GRCh38: Chr19:7638776	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely pathogenic (Dec 19, 2021)	criteria provided, single submitter
Select item 204753485.	NM_006949.4(STXBP2):c.775A>G (p.Ile259Val) GRCh37: Chr19:7707200 GRCh38: Chr19:7642314	STXBP2	I256V, I259V, I227V, I270V	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 204733386.	NM_006949.4(STXBP2):c.997A>C (p.Met333Leu) GRCh37: Chr19:7707905 GRCh38: Chr19:7643019	STXBP2	M301L, M330L, M333L, M344L	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 204695787.	NM_006949.4(STXBP2):c.246+9A>G GRCh37: Chr19:7704702 GRCh38: Chr19:7639816	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 204203688.	NM_006949.4(STXBP2):c.679C>A (p.Arg227Ser) GRCh37: Chr19:7707104 GRCh38: Chr19:7642218	STXBP2	R224S, R238S, R195S, R227S	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 203941889.	NM_006949.4(STXBP2):c.1135G>A (p.Gly379Arg) GRCh37: Chr19:7709527 GRCh38: Chr19:7644641	STXBP2	G376R, G379R, G390R, G347R	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Dec 10, 2021)	criteria provided, single submitter
Select item 203758390.	NM_006949.4(STXBP2):c.817G>C (p.Glu273Gln) GRCh37: Chr19:7707337 GRCh38: Chr19:7642451	STXBP2	E270Q, E241Q, E273Q, E284Q	Familial hemophagocytic lymphohistiocytosis 5	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 203717591.	NM_006949.4(STXBP2):c.1092G>C (p.Leu364=) GRCh37: Chr19:7708116 GRCh38: Chr19:7643230	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Dec 8, 2021)	criteria provided, single submitter
Select item 203677092.	NM_006949.4(STXBP2):c.169+16C>T GRCh37: Chr19:7704002 GRCh38: Chr19:7639116	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 203445493.	NM_006949.4(STXBP2):c.71_72del (p.Lys24fs) GRCh37: Chr19:7703645-7703646 GRCh38: Chr19:7638759-7638760	STXBP2	K24fs	Familial hemophagocytic lymphohistiocytosis 5	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 203335194.	NM_006949.4(STXBP2):c.456C>T (p.Ser152=) GRCh37: Chr19:7706617 GRCh38: Chr19:7641731	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 203332995.	NM_006949.4(STXBP2):c.902+1G>A GRCh37: Chr19:7707423 GRCh38: Chr19:7642537	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely pathogenic (Sep 29, 2022)	criteria provided, single submitter
Select item 203321896.	NM_006949.4(STXBP2):c.902+7G>A GRCh37: Chr19:7707429 GRCh38: Chr19:7642543	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 203243797.	NM_006949.4(STXBP2):c.903-8A>G GRCh37: Chr19:7707644 GRCh38: Chr19:7642758	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 203229898.	NM_006949.4(STXBP2):c.1599G>T (p.Arg533=) GRCh37: Chr19:7712300 GRCh38: Chr19:7647414	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 203178699.	NM_006949.4(STXBP2):c.794+9A>G GRCh37: Chr19:7707228 GRCh38: Chr19:7642342	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 2031757100.	NM_006949.4(STXBP2):c.1247-9G>C GRCh37: Chr19:7710074 GRCh38: Chr19:7645188	STXBP2		Familial hemophagocytic lymphohistiocytosis 5	Likely benign (Sep 22, 2022)	criteria provided, single submitter

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