ClinVar for MedGen (Select 18014) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24343381.	NM_000268.4(NF2):c.403C>T (p.Pro135Ser) GRCh37: Chr22:30038230 GRCh38: Chr22:29642241	NF2	P135S, P52S, P58S, P93S, P94S, P97S	Neurofibromatosis, type 2	Uncertain significance (Dec 2, 2022)	criteria provided, single submitter
Select item 24276422.	NM_000268.4(NF2):c.517-11T>C GRCh37: Chr22:30051572 GRCh38: Chr22:29655583	NF2		Neurofibromatosis, type 2	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 24227583.	NC_000022.10:g.(?_30074175)_(30090791_?)dup GRCh37: Chr22:30074175-30090791	NF2		Neurofibromatosis, type 2	Uncertain significance (Nov 6, 2021)	criteria provided, single submitter
Select item 24227574.	NC_000022.10:g.(?_30050636)_(30051675_?)del GRCh37: Chr22:30050636-30051675	NF2		Neurofibromatosis, type 2	Pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 24227565.	NC_000022.10:g.(?_30032730)_(30064445_?)del GRCh37: Chr22:30032730-30064445	NF2		Neurofibromatosis, type 2	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 24227556.	NC_000022.10:g.(?_30077418)_(30090791_?)del GRCh37: Chr22:30077418-30090791	NF2		Neurofibromatosis, type 2	Pathogenic (Oct 19, 2021)	criteria provided, single submitter
Select item 24227547.	NC_000022.10:g.(?_30074175)_(30077600_?)del GRCh37: Chr22:30074175-30077600	NF2		Neurofibromatosis, type 2	Likely pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 24227538.	NC_000022.10:g.(?_30070815)_(30077600_?)del GRCh37: Chr22:30070815-30077600	NF2		Neurofibromatosis, type 2	Pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 24214609.	NM_000268.4(NF2):c.1576G>A (p.Val526Met) GRCh37: Chr22:30077429 GRCh38: Chr22:29681440	NF2	V348M, V440M, V443M, V449M, V481M, V484M, V485M, V488M, V526M	Neurofibromatosis, type 2	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 242112410.	NM_000268.4(NF2):c.1737+14C>T GRCh37: Chr22:30077604 GRCh38: Chr22:29681615	NF2		Neurofibromatosis, type 2	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 242001611.	NM_000268.4(NF2):c.1608G>C (p.Gln536His) GRCh37: Chr22:30077461 GRCh38: Chr22:29681472	NF2	Q358H, Q450H, Q453H, Q459H, Q491H, Q494H, Q495H, Q498H, Q536H	Neurofibromatosis, type 2	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 241974712.	NM_000268.4(NF2):c.152G>T (p.Cys51Phe) GRCh37: Chr22:30032777 GRCh38: Chr22:29636788	NF2	C13F, C51F	Neurofibromatosis, type 2	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 241738413.	NM_000268.4(NF2):c.1123-7C>T GRCh37: Chr22:30069251 GRCh38: Chr22:29673262	NF2		Neurofibromatosis, type 2	Likely benign (Dec 7, 2021)	criteria provided, single submitter
Select item 241505614.	NM_000268.4(NF2):c.1340+5G>C GRCh37: Chr22:30069480 GRCh38: Chr22:29673491	NF2		Neurofibromatosis, type 2	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 220111415.	NM_000268.4(NF2):c.515G>T (p.Arg172Met) GRCh37: Chr22:30050713 GRCh38: Chr22:29654724	NF2	R89M, R134M, R172M, R130M, R131M, R95M	Neurofibromatosis, type 2, Inborn genetic diseases	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219856716.	NM_000268.4(NF2):c.1089G>A (p.Met363Ile) GRCh37: Chr22:30067904 GRCh38: Chr22:29671915	NF2	M280I, M321I, M325I, M318I, M277I, M286I, M322I, M185I, M363I	Neurofibromatosis, type 2	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 219755617.	NM_000268.4(NF2):c.115-18A>G GRCh37: Chr22:30032722 GRCh38: Chr22:29636733	NF2		Neurofibromatosis, type 2	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 219435118.	NM_000268.4(NF2):c.1399A>G (p.Arg467Gly) GRCh37: Chr22:30070883 GRCh38: Chr22:29674894	NF2	R384G, R429G, R467G, R390G, R422G, R289G, R381G, R426G, R425G	Neurofibromatosis, type 2	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 219104819.	NM_000268.4(NF2):c.217G>A (p.Ala73Thr) GRCh37: Chr22:30032842 GRCh38: Chr22:29636853	NF2	A73T, A35T	Neurofibromatosis, type 2	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 218954520.	NM_000268.4(NF2):c.599+17G>T GRCh37: Chr22:30051682 GRCh38: Chr22:29655693	NF2		Neurofibromatosis, type 2	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 218880521.	NM_000268.4(NF2):c.363+14G>A GRCh37: Chr22:30035215 GRCh38: Chr22:29639226	NF2		Neurofibromatosis, type 2	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 218412822.	NM_000268.4(NF2):c.1000-2A>G GRCh37: Chr22:30067813 GRCh38: Chr22:29671824	NF2		Neurofibromatosis, type 2	Likely pathogenic (Apr 25, 2022)	criteria provided, single submitter
Select item 218382223.	NM_000268.4(NF2):c.1123-9G>A GRCh37: Chr22:30069249 GRCh38: Chr22:29673260	NF2		Neurofibromatosis, type 2	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 218268224.	NM_000268.4(NF2):c.87G>A (p.Met29Ile) GRCh37: Chr22:30000074 GRCh38: Chr22:29604085	NF2	M29I	Neurofibromatosis, type 2	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 218089325.	NM_000268.4(NF2):c.468T>C (p.Ser156=) GRCh37: Chr22:30050666 GRCh38: Chr22:29654677	NF2		Neurofibromatosis, type 2	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 218010826.	NM_000268.4(NF2):c.148G>A (p.Val50Met) GRCh37: Chr22:30032773 GRCh38: Chr22:29636784	NF2	V12M, V50M	Neurofibromatosis, type 2	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 218005527.	NM_000268.4(NF2):c.1555A>G (p.Met519Val) GRCh37: Chr22:30074293 GRCh38: Chr22:29678304	NF2	M341V, M436V, M442V, M478V, M433V, M519V, M474V, M477V, M481V	Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217915628.	NM_000268.4(NF2):c.1609G>A (p.Glu537Lys) GRCh37: Chr22:30077462 GRCh38: Chr22:29681473	NF2	E359K, E454K, E499K, E451K, E495K, E460K, E492K, E496K, E537K	Neurofibromatosis, type 2	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 217902029.	NM_000268.4(NF2):c.240+13C>T GRCh37: Chr22:30032878 GRCh38: Chr22:29636889	NF2		Neurofibromatosis, type 2	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 217829230.	NM_000268.4(NF2):c.241-14C>T GRCh37: Chr22:30035065 GRCh38: Chr22:29639076	NF2		Neurofibromatosis, type 2	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 217811131.	NM_000268.4(NF2):c.129G>C (p.Gly43=) GRCh37: Chr22:30032754 GRCh38: Chr22:29636765	NF2		Neurofibromatosis, type 2	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 217588732.	NM_000268.4(NF2):c.1130C>G (p.Ser377Cys) GRCh37: Chr22:30069265 GRCh38: Chr22:29673276	NF2	S199C, S300C, S335C, S336C, S377C, S291C, S294C, S332C, S339C	Neurofibromatosis, type 2	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 217187633.	NM_000268.4(NF2):c.1340+5G>A GRCh37: Chr22:30069480 GRCh38: Chr22:29673491	NF2		Neurofibromatosis, type 2	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 217179434.	NM_000268.4(NF2):c.811-14C>T GRCh37: Chr22:30060965 GRCh38: Chr22:29664976	NF2		Neurofibromatosis, type 2	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 216990635.	NM_000268.4(NF2):c.1689T>C (p.Asn563=) GRCh37: Chr22:30077542 GRCh38: Chr22:29681553	NF2		Neurofibromatosis, type 2	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216784936.	NM_000268.4(NF2):c.1256C>G (p.Thr419Arg) GRCh37: Chr22:30069391 GRCh38: Chr22:29673402	NF2	T378R, T241R, T333R, T336R, T419R, T342R, T374R, T377R, T381R	Neurofibromatosis, type 2	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 216593237.	NM_000268.4(NF2):c.241-17G>A GRCh37: Chr22:30035062 GRCh38: Chr22:29639073	NF2		Neurofibromatosis, type 2	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 216097638.	NM_000268.4(NF2):c.1324G>A (p.Glu442Lys) GRCh37: Chr22:30069459 GRCh38: Chr22:29673470	NF2	E264K, E356K, E365K, E359K, E400K, E442K, E397K, E401K, E404K	Neurofibromatosis, type 2	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 215729239.	NM_000268.4(NF2):c.897A>G (p.Leu299=) GRCh37: Chr22:30064333 GRCh38: Chr22:29668344	NF2		Neurofibromatosis, type 2	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 215369240.	NM_000268.4(NF2):c.241G>A (p.Val81Ile) GRCh37: Chr22:30035079 GRCh38: Chr22:29639090	NF2	V81I, V43I, V39I, V4I	Neurofibromatosis, type 2	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 215084941.	NM_000268.4(NF2):c.359T>C (p.Leu120Ser) GRCh37: Chr22:30035197 GRCh38: Chr22:29639208	NF2	L82S, L43S, L120S, L78S	Neurofibromatosis, type 2	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 214862442.	NM_000268.4(NF2):c.291G>A (p.Leu97=) GRCh37: Chr22:30035129 GRCh38: Chr22:29639140	NF2		Neurofibromatosis, type 2	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 214519943.	NM_000268.4(NF2):c.114+19C>T GRCh37: Chr22:30000120 GRCh38: Chr22:29604131	NF2		Neurofibromatosis, type 2	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 214380744.	NM_000268.4(NF2):c.285C>T (p.His95=) GRCh37: Chr22:30035123 GRCh38: Chr22:29639134	NF2		Neurofibromatosis, type 2	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 214356445.	NM_000268.4(NF2):c.1017C>A (p.Leu339=) GRCh37: Chr22:30067832 GRCh38: Chr22:29671843	NF2		Neurofibromatosis, type 2	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 214319846.	NM_000268.4(NF2):c.469G>C (p.Val157Leu) GRCh37: Chr22:30050667 GRCh38: Chr22:29654678	NF2	V116L, V74L, V80L, V119L, V157L, V115L	Neurofibromatosis, type 2	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 213843547.	NM_000268.4(NF2):c.1625T>A (p.Leu542His) GRCh37: Chr22:30077478 GRCh38: Chr22:29681489	NF2	L364H, L456H, L500H, L459H, L465H, L501H, L542H, L497H, L504H	Neurofibromatosis, type 2	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 213843448.	NM_000268.4(NF2):c.1564_1567del (p.Glu522fs) GRCh37: Chr22:30074301-30074304 GRCh38: Chr22:29678312-29678315	NF2	E439fs, E481fs, E480fs, E522fs	Neurofibromatosis, type 2	Pathogenic (Mar 21, 2022)	criteria provided, single submitter
Select item 213843349.	NM_000268.4(NF2):c.1084C>T (p.Gln362Ter) GRCh37: Chr22:30067899 GRCh38: Chr22:29671910	NF2	Q184, Q276, Q285, Q321, Q279, Q317, Q320, Q362, Q324*	Neurofibromatosis, type 2	Pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 213843250.	NM_000268.4(NF2):c.805A>T (p.Lys269Ter) GRCh37: Chr22:30057323 GRCh38: Chr22:29661334	NF2	K186, K227, K228, K192, K269, K91, K231*	Neurofibromatosis, type 2	Pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 213843151.	NM_000268.4(NF2):c.676-1G>T GRCh37: Chr22:30057193 GRCh38: Chr22:29661204	NF2		Neurofibromatosis, type 2	Pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 213843052.	NM_000268.4(NF2):c.675+5G>A GRCh37: Chr22:30054258 GRCh38: Chr22:29658269	NF2		Neurofibromatosis, type 2	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 213842953.	NM_000268.4(NF2):c.270del (p.Glu90fs) GRCh37: Chr22:30035107 GRCh38: Chr22:29639118	NF2	E48fs, E90fs	Neurofibromatosis, type 2	Pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 213436154.	NM_000268.4(NF2):c.1676del (p.Asp559fs) GRCh37: Chr22:30077529 GRCh38: Chr22:29681540	NF2	D559fs, D518fs, D476fs, D517fs	Neurofibromatosis, type 2	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 213247855.	NM_000268.4(NF2):c.159T>C (p.Thr53=) GRCh37: Chr22:30032784 GRCh38: Chr22:29636795	NF2		Neurofibromatosis, type 2	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 212617656.	NM_000268.4(NF2):c.447+4G>A GRCh37: Chr22:30038278 GRCh38: Chr22:29642289	NF2		Neurofibromatosis, type 2	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212307957.	NM_000268.4(NF2):c.1422G>T (p.Glu474Asp) GRCh37: Chr22:30070906 GRCh38: Chr22:29674917	NF2	E388D, E432D, E296D, E397D, E436D, E391D, E429D, E433D, E474D	Neurofibromatosis, type 2	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212087758.	NM_000268.4(NF2):c.999+15G>C GRCh37: Chr22:30064450 GRCh38: Chr22:29668461	NF2		Neurofibromatosis, type 2	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 211918459.	NM_000268.4(NF2):c.1633G>A (p.Glu545Lys) GRCh37: Chr22:30077486 GRCh38: Chr22:29681497	NF2	E462K, E545K, E459K, E500K, E507K, E503K, E367K, E468K, E504K	Neurofibromatosis, type 2	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211366360.	NM_000268.4(NF2):c.593_599+317del GRCh37: Chr22:30051658-30051981 GRCh38: Chr22:29655669-29655992	NF2		Neurofibromatosis, type 2	Likely pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 211097961.	NM_000268.4(NF2):c.363+11C>T GRCh37: Chr22:30035212 GRCh38: Chr22:29639223	NF2		Neurofibromatosis, type 2	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 210922062.	NM_000268.4(NF2):c.1171A>T (p.Thr391Ser) GRCh37: Chr22:30069306 GRCh38: Chr22:29673317	NF2	T213S, T391S, T346S, T353S, T305S, T308S, T314S, T349S, T350S	Neurofibromatosis, type 2	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210834163.	NM_000268.4(NF2):c.1507G>A (p.Asp503Asn) GRCh37: Chr22:30074245 GRCh38: Chr22:29678256	NF2	D417N, D420N, D503N, D462N, D325N, D458N, D426N, D461N, D465N	Neurofibromatosis, type 2	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 210752864.	NM_000268.4(NF2):c.114+6dup GRCh37: Chr22:30000105-30000106 GRCh38: Chr22:29604116-29604117	NF2		Neurofibromatosis, type 2	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 210723065.	NM_000268.4(NF2):c.746G>A (p.Arg249Lys) GRCh37: Chr22:30057264 GRCh38: Chr22:29661275	NF2	R172K, R249K, R166K, R211K, R207K, R208K, R71K	Neurofibromatosis, type 2	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 210647366.	NM_000268.4(NF2):c.1405A>C (p.Lys469Gln) GRCh37: Chr22:30070889 GRCh38: Chr22:29674900	NF2	K291Q, K383Q, K428Q, K427Q, K469Q, K386Q, K392Q, K424Q, K431Q	Neurofibromatosis, type 2	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 210545267.	NM_000268.4(NF2):c.241_249delinsAG (p.Val81fs) GRCh37: Chr22:30035079-30035087 GRCh38: Chr22:29639090-29639098	NF2	V39fs, V81fs	Neurofibromatosis, type 2	Pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 210274968.	NM_000268.4(NF2):c.328G>A (p.Val110Ile) GRCh37: Chr22:30035166 GRCh38: Chr22:29639177	NF2	V33I, V68I, V72I, V110I	Neurofibromatosis, type 2	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 209843769.	NM_000268.4(NF2):c.1276A>G (p.Met426Val) GRCh37: Chr22:30069411 GRCh38: Chr22:29673422	NF2	M340V, M349V, M384V, M385V, M343V, M381V, M388V, M426V, M248V	Neurofibromatosis, type 2	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 209553670.	NM_000268.4(NF2):c.1630A>C (p.Thr544Pro) GRCh37: Chr22:30077483 GRCh38: Chr22:29681494	NF2	T458P, T366P, T461P, T502P, T506P, T467P, T499P, T503P, T544P	Neurofibromatosis, type 2	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209444371.	NM_000268.4(NF2):c.1080_1081delinsTT (p.Leu360_Leu361=) GRCh37: Chr22:30067895-30067896 GRCh38: Chr22:29671906-29671907	NF2		Neurofibromatosis, type 2	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 209060072.	NM_000268.4(NF2):c.1504G>A (p.Gly502Ser) GRCh37: Chr22:30074242 GRCh38: Chr22:29678253	NF2	G419S, G425S, G457S, G460S, G324S, G416S, G502S, G461S, G464S	Neurofibromatosis, type 2	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 208943973.	NM_000268.4(NF2):c.1203G>T (p.Lys401Asn) GRCh37: Chr22:30069338 GRCh38: Chr22:29673349	NF2	K223N, K363N, K359N, K360N, K401N, K315N, K318N, K324N, K356N	Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208749274.	NM_000268.4(NF2):c.1738-14C>T GRCh37: Chr22:30090727 GRCh38: Chr22:29694738	NF2		Neurofibromatosis, type 2	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 207772275.	NM_000268.4(NF2):c.1575-10T>C GRCh37: Chr22:30077418 GRCh38: Chr22:29681429	NF2		Neurofibromatosis, type 2	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 207702376.	NM_000268.4(NF2):c.1446+20G>C GRCh37: Chr22:30070950 GRCh38: Chr22:29674961	NF2		Neurofibromatosis, type 2	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 207386077.	NM_000268.4(NF2):c.1504G>T (p.Gly502Cys) GRCh37: Chr22:30074242 GRCh38: Chr22:29678253	NF2	G419C, G457C, G464C, G502C, G416C, G461C, G324C, G425C, G460C	Neurofibromatosis, type 2	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 207325378.	NM_000268.4(NF2):c.1690G>A (p.Glu564Lys) GRCh37: Chr22:30077543 GRCh38: Chr22:29681554	NF2	E478K, E487K, E564K, E481K, E519K, E522K, E386K, E523K, E526K	Neurofibromatosis, type 2	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 207304879.	NM_000268.4(NF2):c.1574+16T>A GRCh37: Chr22:30074328 GRCh38: Chr22:29678339	NF2		Neurofibromatosis, type 2	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 207270280.	NM_000268.4(NF2):c.115-20_115-19delinsGT GRCh37: Chr22:30032720-30032721 GRCh38: Chr22:29636731-29636732	NF2		Neurofibromatosis, type 2	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 207103381.	NM_000268.4(NF2):c.1295A>G (p.Glu432Gly) GRCh37: Chr22:30069430 GRCh38: Chr22:29673441	NF2	E355G, E387G, E394G, E254G, E432G, E346G, E349G, E390G, E391G	Neurofibromatosis, type 2	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 207103082.	NM_000268.4(NF2):c.588A>C (p.Arg196=) GRCh37: Chr22:30051654 GRCh38: Chr22:29655665	NF2		Neurofibromatosis, type 2	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 206990683.	NM_000268.4(NF2):c.599+10A>G GRCh37: Chr22:30051675 GRCh38: Chr22:29655686	NF2		Neurofibromatosis, type 2	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 206858384.	NM_000268.4(NF2):c.1340+13C>T GRCh37: Chr22:30069488 GRCh38: Chr22:29673499	NF2		Neurofibromatosis, type 2	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 206670885.	NM_000268.4(NF2):c.324G>A (p.Glu108=) GRCh37: Chr22:30035162 GRCh38: Chr22:29639173	NF2		Neurofibromatosis, type 2	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 206603786.	NM_000268.4(NF2):c.517-12A>G GRCh37: Chr22:30051571 GRCh38: Chr22:29655582	NF2		Neurofibromatosis, type 2	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 206326387.	NM_000268.4(NF2):c.810+14G>A GRCh37: Chr22:30057342 GRCh38: Chr22:29661353	NF2		Neurofibromatosis, type 2	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 206100588.	NM_000268.4(NF2):c.61A>G (p.Thr21Ala) GRCh37: Chr22:30000048 GRCh38: Chr22:29604059	NF2	T21A	Neurofibromatosis, type 2	Uncertain significance (Aug 26, 2022)	criteria provided, single submitter
Select item 205724489.	NM_000268.4(NF2):c.1202A>G (p.Lys401Arg) GRCh37: Chr22:30069337 GRCh38: Chr22:29673348	NF2	K223R, K318R, K356R, K359R, K401R, K315R, K324R, K363R, K360R	Neurofibromatosis, type 2	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205591990.	NM_000268.4(NF2):c.114+11G>A GRCh37: Chr22:30000112 GRCh38: Chr22:29604123	NF2		Neurofibromatosis, type 2	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 205497391.	NM_000268.4(NF2):c.1229dup (p.Arg411fs) GRCh37: Chr22:30069363-30069364 GRCh38: Chr22:29673374-29673375	NF2	R328fs, R369fs, R370fs, R411fs	Neurofibromatosis, type 2	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 205228292.	NM_000268.4(NF2):c.511A>G (p.Lys171Glu) GRCh37: Chr22:30050709 GRCh38: Chr22:29654720	NF2	K129E, K171E, K130E, K94E, K133E, K88E	Neurofibromatosis, type 2	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 205202793.	NM_000268.4(NF2):c.1446+17C>T GRCh37: Chr22:30070947 GRCh38: Chr22:29674958	NF2		Neurofibromatosis, type 2	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 205027694.	NM_000268.4(NF2):c.1575-17T>C GRCh37: Chr22:30077411 GRCh38: Chr22:29681422	NF2		Neurofibromatosis, type 2	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 205006995.	NM_000268.4(NF2):c.1043A>T (p.Glu348Val) GRCh37: Chr22:30067858 GRCh38: Chr22:29671869	NF2	E262V, E271V, E170V, E306V, E307V, E310V, E348V, E265V, E303V	Neurofibromatosis, type 2	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 204770396.	NM_000268.4(NF2):c.1447-20C>G GRCh37: Chr22:30074165 GRCh38: Chr22:29678176	NF2		Neurofibromatosis, type 2	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 204579697.	NM_000268.4(NF2):c.49A>G (p.Lys17Glu) GRCh37: Chr22:30000036 GRCh38: Chr22:29604047	NF2	K17E	Neurofibromatosis, type 2	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 204570498.	NM_000268.4(NF2):c.1368G>A (p.Gln456=) GRCh37: Chr22:30070852 GRCh38: Chr22:29674863	NF2		Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome	Likely benign (Mar 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204450899.	NM_000268.4(NF2):c.1756_1770del (p.Lys586_Ala590del) GRCh37: Chr22:30090756-30090770 GRCh38: Chr22:29694767-29694781	NF2		Neurofibromatosis, type 2	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 2042756100.	NM_000268.4(NF2):c.1088T>C (p.Met363Thr) GRCh37: Chr22:30067903 GRCh38: Chr22:29671914	NF2	M185T, M277T, M280T, M318T, M325T, M321T, M286T, M322T, M363T	Neurofibromatosis, type 2	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter

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