ClinVar for MedGen (Select 350245) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 289

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24317621.	NM_003764.4(STX11):c.429G>T (p.Met143Ile) GRCh37: Chr6:144508193 GRCh38: Chr6:144187056	STX11	M143I	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 24132142.	NM_003764.4(STX11):c.827G>C (p.Arg276Pro) GRCh37: Chr6:144508591 GRCh38: Chr6:144187454	STX11	R276P	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 21962943.	NM_003764.4(STX11):c.33G>A (p.Leu11=) GRCh37: Chr6:144507797 GRCh38: Chr6:144186660	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 21904004.	NM_003764.4(STX11):c.385C>T (p.Arg129Trp) GRCh37: Chr6:144508149 GRCh38: Chr6:144187012	STX11	R129W	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 21849405.	NM_003764.4(STX11):c.247A>G (p.Lys83Glu) GRCh37: Chr6:144508011 GRCh38: Chr6:144186874	STX11	K83E	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 21812596.	NM_003764.4(STX11):c.489C>T (p.Arg163=) GRCh37: Chr6:144508253 GRCh38: Chr6:144187116	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 21772987.	NM_003764.4(STX11):c.674A>G (p.His225Arg) GRCh37: Chr6:144508438 GRCh38: Chr6:144187301	STX11	H225R	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 21762498.	NM_003764.4(STX11):c.518C>T (p.Ser173Leu) GRCh37: Chr6:144508282 GRCh38: Chr6:144187145	STX11	S173L	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 21734049.	NM_003764.4(STX11):c.618G>A (p.Glu206=) GRCh37: Chr6:144508382 GRCh38: Chr6:144187245	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 215120110.	NM_003764.4(STX11):c.630C>T (p.Arg210=) GRCh37: Chr6:144508394 GRCh38: Chr6:144187257	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 214316311.	NM_003764.4(STX11):c.825C>T (p.Cys275=) GRCh37: Chr6:144508589 GRCh38: Chr6:144187452	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 212460512.	NM_003764.4(STX11):c.397A>G (p.Asn133Asp) GRCh37: Chr6:144508161 GRCh38: Chr6:144187024	STX11	N133D	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 211767013.	NM_003764.4(STX11):c.354C>T (p.His118=) GRCh37: Chr6:144508118 GRCh38: Chr6:144186981	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 210870014.	NM_003764.4(STX11):c.621C>T (p.Ile207=) GRCh37: Chr6:144508385 GRCh38: Chr6:144187248	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210120415.	NM_003764.4(STX11):c.589G>T (p.Val197Leu) GRCh37: Chr6:144508353 GRCh38: Chr6:144187216	STX11	V197L	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 209730016.	NM_003764.4(STX11):c.768C>T (p.Thr256=) GRCh37: Chr6:144508532 GRCh38: Chr6:144187395	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 209063117.	NM_003764.4(STX11):c.761A>C (p.Asp254Ala) GRCh37: Chr6:144508525 GRCh38: Chr6:144187388	STX11	D254A	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 208837718.	NM_003764.4(STX11):c.156G>A (p.Gln52=) GRCh37: Chr6:144507920 GRCh38: Chr6:144186783	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 207984819.	NM_003764.4(STX11):c.440A>C (p.Asn147Thr) GRCh37: Chr6:144508204 GRCh38: Chr6:144187067	STX11	N147T	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 207777620.	NM_003764.4(STX11):c.120C>T (p.Ile40=) GRCh37: Chr6:144507884 GRCh38: Chr6:144186747	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 207357221.	NM_003764.4(STX11):c.158A>G (p.Asp53Gly) GRCh37: Chr6:144507922 GRCh38: Chr6:144186785	STX11	D53G	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 205699322.	NM_003764.4(STX11):c.610C>A (p.Leu204Ile) GRCh37: Chr6:144508374 GRCh38: Chr6:144187237	STX11	L204I	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205649623.	NM_003764.4(STX11):c.191G>A (p.Arg64Gln) GRCh37: Chr6:144507955 GRCh38: Chr6:144186818	STX11	R64Q	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 205070124.	NM_003764.4(STX11):c.576C>T (p.Asn192=) GRCh37: Chr6:144508340 GRCh38: Chr6:144187203	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 204999525.	NM_003764.4(STX11):c.458_459delinsCC (p.Gln153Pro) GRCh37: Chr6:144508222-144508223 GRCh38: Chr6:144187085-144187086	STX11	Q153P	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 204651026.	NM_003764.4(STX11):c.739C>T (p.Leu247Phe) GRCh37: Chr6:144508503 GRCh38: Chr6:144187366	STX11	L247F	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 203915927.	NM_003764.4(STX11):c.756G>T (p.Thr252=) GRCh37: Chr6:144508520 GRCh38: Chr6:144187383	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 202979428.	NM_003764.4(STX11):c.342T>A (p.Ala114=) GRCh37: Chr6:144508106 GRCh38: Chr6:144186969	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 202690129.	NM_003764.4(STX11):c.633C>T (p.His211=) GRCh37: Chr6:144508397 GRCh38: Chr6:144187260	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 202680130.	NM_003764.4(STX11):c.189G>A (p.Lys63=) GRCh37: Chr6:144507953 GRCh38: Chr6:144186816	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 202212131.	NM_003764.4(STX11):c.708G>A (p.Glu236=) GRCh37: Chr6:144508472 GRCh38: Chr6:144187335	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 201679932.	NM_003764.4(STX11):c.561C>T (p.Asp187=) GRCh37: Chr6:144508325 GRCh38: Chr6:144187188	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 200944733.	NM_003764.4(STX11):c.602G>A (p.Arg201Gln) GRCh37: Chr6:144508366 GRCh38: Chr6:144187229	STX11	R201Q	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 200873034.	NM_003764.4(STX11):c.700C>T (p.Leu234=) GRCh37: Chr6:144508464 GRCh38: Chr6:144187327	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 200710035.	NM_003764.4(STX11):c.36C>T (p.Ser12=) GRCh37: Chr6:144507800 GRCh38: Chr6:144186663	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 200640336.	NM_003764.4(STX11):c.534G>A (p.Glu178=) GRCh37: Chr6:144508298 GRCh38: Chr6:144187161	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 200205737.	NM_003764.4(STX11):c.628C>A (p.Arg210Ser) GRCh37: Chr6:144508392 GRCh38: Chr6:144187255	STX11	R210S	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 199468938.	NM_003764.4(STX11):c.334G>C (p.Glu112Gln) GRCh37: Chr6:144508098 GRCh38: Chr6:144186961	STX11	E112Q	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 198644339.	NM_003764.4(STX11):c.850C>G (p.Pro284Ala) GRCh37: Chr6:144508614 GRCh38: Chr6:144187477	STX11	P284A	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 198091440.	NM_003764.4(STX11):c.432C>T (p.His144=) GRCh37: Chr6:144508196 GRCh38: Chr6:144187059	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (May 23, 2022)	criteria provided, single submitter
Select item 198091241.	NM_003764.4(STX11):c.499A>G (p.Ile167Val) GRCh37: Chr6:144508263 GRCh38: Chr6:144187126	STX11	I167V	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 198081042.	NM_003764.4(STX11):c.100G>A (p.Val34Met) GRCh37: Chr6:144507864 GRCh38: Chr6:144186727	STX11	V34M	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 198050043.	NM_003764.4(STX11):c.51G>A (p.Gln17=) GRCh37: Chr6:144507815 GRCh38: Chr6:144186678	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 197637944.	NM_003764.4(STX11):c.90C>A (p.His30Gln) GRCh37: Chr6:144507854 GRCh38: Chr6:144186717	STX11	H30Q	Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 196882945.	NM_003764.4(STX11):c.588C>T (p.Asp196=) GRCh37: Chr6:144508352 GRCh38: Chr6:144187215	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 196767546.	NM_003764.4(STX11):c.87C>T (p.Pro29=) GRCh37: Chr6:144507851 GRCh38: Chr6:144186714	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 196249447.	NM_003764.4(STX11):c.91G>A (p.Glu31Lys) GRCh37: Chr6:144507855 GRCh38: Chr6:144186718	STX11	E31K	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 195172548.	NM_003764.4(STX11):c.386G>C (p.Arg129Pro) GRCh37: Chr6:144508150 GRCh38: Chr6:144187013	STX11	R129P	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 193850249.	NM_003764.4(STX11):c.243C>T (p.Ser81=) GRCh37: Chr6:144508007 GRCh38: Chr6:144186870	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 193814450.	NM_003764.4(STX11):c.606C>A (p.Ala202=) GRCh37: Chr6:144508370 GRCh38: Chr6:144187233	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 193545051.	NM_003764.4(STX11):c.759C>A (p.Val253=) GRCh37: Chr6:144508523 GRCh38: Chr6:144187386	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 192844252.	NM_003764.4(STX11):c.76T>A (p.Phe26Ile) GRCh37: Chr6:144507840 GRCh38: Chr6:144186703	STX11	F26I	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 191310753.	NM_003764.4(STX11):c.586G>T (p.Asp196Tyr) GRCh37: Chr6:144508350 GRCh38: Chr6:144187213	STX11	D196Y	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 190592354.	NM_003764.4(STX11):c.359C>G (p.Pro120Arg) GRCh37: Chr6:144508123 GRCh38: Chr6:144186986	STX11	P120R	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 190367955.	NM_003764.4(STX11):c.122T>C (p.Leu41Pro) GRCh37: Chr6:144507886 GRCh38: Chr6:144186749	STX11	L41P	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 172224856.	NM_003764.4(STX11):c.632A>G (p.His211Arg) GRCh37: Chr6:144508396 GRCh38: Chr6:144187259	STX11	H211R	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 171418957.	NM_003764.4(STX11):c.587A>T (p.Asp196Val) GRCh37: Chr6:144508351 GRCh38: Chr6:144187214	STX11	D196V	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 168623558.	NM_003764.4(STX11):c.554dup (p.Trp186fs) GRCh37: Chr6:144508316-144508317 GRCh38: Chr6:144187179-144187180	STX11	W186fs	Familial hemophagocytic lymphohistiocytosis 4	Pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168623459.	NM_003764.4(STX11):c.448G>T (p.Glu150Ter) GRCh37: Chr6:144508212 GRCh38: Chr6:144187075	STX11	E150*	Familial hemophagocytic lymphohistiocytosis 4	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167181060.	NM_003764.4(STX11):c.387G>A (p.Arg129=) GRCh37: Chr6:144508151 GRCh38: Chr6:144187014	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 167174461.	NM_003764.4(STX11):c.756G>C (p.Thr252=) GRCh37: Chr6:144508520 GRCh38: Chr6:144187383	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 165133262.	NM_003764.4(STX11):c.580C>T (p.Leu194=) GRCh37: Chr6:144508344 GRCh38: Chr6:144187207	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 164434263.	NM_003764.4(STX11):c.105C>T (p.Phe35=) GRCh37: Chr6:144507869 GRCh38: Chr6:144186732	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (May 22, 2021)	criteria provided, single submitter
Select item 164331464.	NM_003764.4(STX11):c.750A>G (p.Gln250=) GRCh37: Chr6:144508514 GRCh38: Chr6:144187377	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Mar 27, 2021)	criteria provided, single submitter
Select item 163529365.	NM_003764.4(STX11):c.229C>A (p.Arg77=) GRCh37: Chr6:144507993 GRCh38: Chr6:144186856	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Aug 17, 2021)	criteria provided, single submitter
Select item 160870266.	NM_003764.4(STX11):c.738G>A (p.Glu246=) GRCh37: Chr6:144508502 GRCh38: Chr6:144187365	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 158655767.	NM_003764.4(STX11):c.729C>T (p.Asn243=) GRCh37: Chr6:144508493 GRCh38: Chr6:144187356	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 158148968.	NM_003764.4(STX11):c.414C>T (p.Thr138=) GRCh37: Chr6:144508178 GRCh38: Chr6:144187041	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 157018669.	NM_003764.4(STX11):c.96C>T (p.Asp32=) GRCh37: Chr6:144507860 GRCh38: Chr6:144186723	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 155164670.	NM_003764.4(STX11):c.423C>G (p.Arg141=) GRCh37: Chr6:144508187 GRCh38: Chr6:144187050	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Jun 13, 2021)	criteria provided, single submitter
Select item 153657171.	NM_003764.4(STX11):c.180C>T (p.Ala60=) GRCh37: Chr6:144507944 GRCh38: Chr6:144186807	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Apr 26, 2021)	criteria provided, single submitter
Select item 153204372.	NM_003764.4(STX11):c.606C>G (p.Ala202=) GRCh37: Chr6:144508370 GRCh38: Chr6:144187233	STX11		Familial hemophagocytic lymphohistiocytosis 4	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 152546373.	NM_003764.4(STX11):c.746T>A (p.Val249Glu) GRCh37: Chr6:144508510 GRCh38: Chr6:144187373	STX11	V249E	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 149675274.	NM_003764.4(STX11):c.268_276del (p.Ala90_Ala92del) GRCh37: Chr6:144508031-144508039 GRCh38: Chr6:144186894-144186902	STX11		Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 148828975.	NM_003764.4(STX11):c.428T>C (p.Met143Thr) GRCh37: Chr6:144508192 GRCh38: Chr6:144187055	STX11	M143T	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 147844376.	NM_003764.4(STX11):c.632A>C (p.His211Pro) GRCh37: Chr6:144508396 GRCh38: Chr6:144187259	STX11	H211P	Familial hemophagocytic lymphohistiocytosis 4, Inborn genetic diseases	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147054277.	NM_003764.4(STX11):c.97A>G (p.Ile33Val) GRCh37: Chr6:144507861 GRCh38: Chr6:144186724	STX11	I33V	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 146919978.	NM_003764.4(STX11):c.691A>T (p.Met231Leu) GRCh37: Chr6:144508455 GRCh38: Chr6:144187318	STX11	M231L	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 146306379.	NM_003764.4(STX11):c.355G>T (p.Gly119Cys) GRCh37: Chr6:144508119 GRCh38: Chr6:144186982	STX11	G119C	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Oct 3, 2021)	criteria provided, single submitter
Select item 146234680.	NM_003764.4(STX11):c.558G>T (p.Trp186Cys) GRCh37: Chr6:144508322 GRCh38: Chr6:144187185	STX11	W186C	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 145518681.	NM_003764.4(STX11):c.599_602del (p.Ala200fs) GRCh37: Chr6:144508360-144508363 GRCh38: Chr6:144187223-144187226	STX11	A200fs	Familial hemophagocytic lymphohistiocytosis 4	Pathogenic (Jul 12, 2021)	criteria provided, single submitter
Select item 144291982.	NM_003764.4(STX11):c.115C>T (p.His39Tyr) GRCh37: Chr6:144507879 GRCh38: Chr6:144186742	STX11	H39Y	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 143486183.	NM_003764.4(STX11):c.562G>A (p.Val188Met) GRCh37: Chr6:144508326 GRCh38: Chr6:144187189	STX11	V188M	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 142593884.	NM_003764.4(STX11):c.289G>C (p.Gly97Arg) GRCh37: Chr6:144508053 GRCh38: Chr6:144186916	STX11	G97R	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 142115785.	NM_003764.4(STX11):c.399C>G (p.Asn133Lys) GRCh37: Chr6:144508163 GRCh38: Chr6:144187026	STX11	N133K	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 141298686.	NM_003764.4(STX11):c.83C>A (p.Ser28Ter) GRCh37: Chr6:144507847 GRCh38: Chr6:144186710	STX11	S28*	Familial hemophagocytic lymphohistiocytosis 4	Pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 141166587.	NM_003764.4(STX11):c.373G>A (p.Ala125Thr) GRCh37: Chr6:144508137 GRCh38: Chr6:144187000	STX11	A125T	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 141037888.	NM_003764.4(STX11):c.579G>C (p.Leu193Phe) GRCh37: Chr6:144508343 GRCh38: Chr6:144187206	STX11	L193F	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 140842589.	NM_003764.4(STX11):c.392A>G (p.Gln131Arg) GRCh37: Chr6:144508156 GRCh38: Chr6:144187019	STX11	Q131R	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 140249290.	NM_003764.4(STX11):c.20A>C (p.Glu7Ala) GRCh37: Chr6:144507784 GRCh38: Chr6:144186647	STX11	E7A	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 139937791.	NM_003764.4(STX11):c.646C>A (p.Arg216Ser) GRCh37: Chr6:144508410 GRCh38: Chr6:144187273	STX11	R216S	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 139390092.	NM_003764.4(STX11):c.658C>T (p.Arg220Cys) GRCh37: Chr6:144508422 GRCh38: Chr6:144187285	STX11	R220C	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Nov 18, 2021)	criteria provided, single submitter
Select item 139356093.	NM_003764.4(STX11):c.634C>A (p.Arg212Ser) GRCh37: Chr6:144508398 GRCh38: Chr6:144187261	STX11	R212S	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 139290794.	NM_003764.4(STX11):c.444G>T (p.Gln148His) GRCh37: Chr6:144508208 GRCh38: Chr6:144187071	STX11	Q148H	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 138127595.	NM_003764.4(STX11):c.200A>G (p.Lys67Arg) GRCh37: Chr6:144507964 GRCh38: Chr6:144186827	STX11	K67R	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 137572096.	NM_003764.4(STX11):c.184G>A (p.Val62Met) GRCh37: Chr6:144507948 GRCh38: Chr6:144186811	STX11	V62M	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Aug 17, 2021)	criteria provided, single submitter
Select item 137496897.	NM_003764.4(STX11):c.653A>G (p.Glu218Gly) GRCh37: Chr6:144508417 GRCh38: Chr6:144187280	STX11	E218G	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 136617698.	NM_003764.4(STX11):c.461G>A (p.Arg154His) GRCh37: Chr6:144508225 GRCh38: Chr6:144187088	STX11	R154H	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 136533799.	NM_003764.4(STX11):c.53A>G (p.Gln18Arg) GRCh37: Chr6:144507817 GRCh38: Chr6:144186680	STX11	Q18R	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 1353929100.	NM_003764.4(STX11):c.260A>C (p.Asn87Thr) GRCh37: Chr6:144508024 GRCh38: Chr6:144186887	STX11	N87T	Familial hemophagocytic lymphohistiocytosis 4	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter

<< First< Prev

Page of 3