NF2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9677091.	NM_000268.3(NF2):c.-3677_4del GRCh37: Chr22:29996311-29999991 GRCh38: Chr22:29600322-29604002	NF2		Neurofibromatosis, type 2	Pathogenic (Nov 27, 2019)	criteria provided, single submitter
Select item 16915072.	NC_000022.10:g.29998201_30006700del GRCh37: Chr22:29998201-30006700 GRCh38: Chr22:29602212-29610711	NF2		Neurofibromatosis, type 2	Pathogenic (Mar 21, 2022)	criteria provided, single submitter
Select item 1484023.	GRCh38/hg38 22q12.2(chr22:29602475-29639153)x1 GRCh37: Chr22:29998464-30035142 GRCh38: Chr22:29602475-29639153	NF2		See cases	Pathogenic (May 6, 2011)	no assertion criteria provided
Select item 6617474.	NC_000022.11:g.(?_29603989)_(29604122_?)del GRCh37: Chr22:29999978-30000111 GRCh38: Chr22:29603989-29604122	NF2		Neurofibromatosis, type 2	Pathogenic (Jun 8, 2019)	criteria provided, single submitter
Select item 6409935.	NC_000022.11:g.(?_29603989)_(29681611_?)del GRCh37: Chr22:29999978-30077600 GRCh38: Chr22:29603989-29681611	NF2		Neurofibromatosis, type 2	Pathogenic (Nov 27, 2018)	criteria provided, single submitter
Select item 5044546.	NM_000268.4(NF2):c.2T>C (p.Met1Thr) GRCh37: Chr22:29999989 GRCh38: Chr22:29604000	NF2	M1T	not provided	Likely pathogenic (Mar 5, 2018)	criteria provided, single submitter
Select item 9625117.	NM_000268.4(NF2):c.10del (p.Ala4fs) GRCh37: Chr22:29999994 GRCh38: Chr22:29604005	NF2	A4fs	Neurofibromatosis, type 2	Pathogenic (Apr 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8180078.	NM_000268.4(NF2):c.30del (p.Phe11fs) GRCh37: Chr22:30000017 GRCh38: Chr22:29604028	NF2	F11fs	not provided	Pathogenic (Feb 4, 2019)	criteria provided, single submitter
Select item 8706939.	NM_000268.4(NF2):c.41_42del (p.Leu14fs) GRCh37: Chr22:30000023-30000024 GRCh38: Chr22:29604034-29604035	NF2	L14fs	not provided, Neurofibromatosis, type 2	Pathogenic (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49289110.	NM_000268.4(NF2):c.43A>T (p.Lys15Ter) GRCh37: Chr22:30000030 GRCh38: Chr22:29604041	NF2	K15*	Neurofibromatosis, type 2	Pathogenic (Oct 13, 2014)	no assertion criteria provided
Select item 93892511.	NM_000268.4(NF2):c.58A>T (p.Lys20Ter) GRCh37: Chr22:30000045 GRCh38: Chr22:29604056	NF2	K20*	Neurofibromatosis, type 2	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 54770312.	NM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs) GRCh37: Chr22:30000045-30000048 GRCh38: Chr22:29604056-29604059	NF2	K20fs	Neurofibromatosis, type 2	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 64455313.	NM_000268.4(NF2):c.69dup (p.Val24fs) GRCh37: Chr22:30000054-30000055 GRCh38: Chr22:29604065-29604066	NF2	V24fs	Neurofibromatosis, type 2	Pathogenic (Jul 4, 2018)	criteria provided, single submitter
Select item 132336214.	NM_000268.4(NF2):c.114+1G>T GRCh37: Chr22:30000102 GRCh38: Chr22:29604113	NF2		Neurofibromatosis, type 2	Pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 106805815.	NM_000268.4(NF2):c.114+1G>A GRCh37: Chr22:30000102 GRCh38: Chr22:29604113	NF2		Neurofibromatosis, type 2	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 66503316.	NC_000022.11:g.(?_29636741)_(29639222_?)del GRCh37: Chr22:30032730-30035211 GRCh38: Chr22:29636741-29639222	NF2		Neurofibromatosis, type 2	Pathogenic (Aug 28, 2018)	criteria provided, single submitter
Select item 58352317.	NC_000022.11:g.(?_29636741)_(29661349_?)del GRCh37: Chr22:30032730-30057338 GRCh38: Chr22:29636741-29661349	NF2		Neurofibromatosis, type 2	Pathogenic (May 10, 2018)	criteria provided, single submitter
Select item 99786818.	NM_000268.4(NF2):c.115-1G>A GRCh37: Chr22:30032739 GRCh38: Chr22:29636750	NF2		Neurofibromatosis, type 2	Likely pathogenic (Feb 4, 2021)	criteria provided, single submitter
Select item 44943319.	NM_000268.4(NF2):c.122G>A (p.Trp41Ter) GRCh37: Chr22:30032747 GRCh38: Chr22:29636758	NF2	W41*	not provided, Neurofibromatosis, type 2	Pathogenic (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 329920.	NM_000268.4(NF2):c.125_126insG (p.Gly43fs) GRCh37: Chr22:30032750-30032751 GRCh38: Chr22:29636761-29636762	NF2	G43fs	Schwannomatosis 1	Pathogenic (Jan 1, 1995)	no assertion criteria provided
Select item 328521.	NM_000268.4(NF2):c.169C>T (p.Arg57Ter) GRCh37: Chr22:30032794 GRCh38: Chr22:29636805	NF2	R57*	Hereditary cancer-predisposing syndrome, not provided, Neurofibromatosis, type 2	Pathogenic (Feb 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80366322.	NM_000268.4(NF2):c.179_185del (p.Trp60fs) GRCh37: Chr22:30032803-30032809 GRCh38: Chr22:29636814-29636820	NF2	W60fs	Neurofibromatosis, type 2	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 49289323.	NM_000268.4(NF2):c.180G>A (p.Trp60Ter) GRCh37: Chr22:30032805 GRCh38: Chr22:29636816	NF2	W60*	Neurofibromatosis, type 2	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 329724.	NM_000268.4(NF2):c.185T>C (p.Phe62Ser) GRCh37: Chr22:30032810 GRCh38: Chr22:29636821	NF2	F62S	Neurofibromatosis, type 2	Pathogenic (Aug 1, 2002)	no assertion criteria provided
Select item 86400025.	NM_000268.4(NF2):c.193C>T (p.Gln65Ter) GRCh37: Chr22:30032818 GRCh38: Chr22:29636829	NF2	Q65*	Neurofibromatosis, type 2	Pathogenic (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 330026.	NM_000268.4(NF2):c.205_211del (p.Lys69fs) GRCh37: Chr22:30032830-30032836 GRCh38: Chr22:29636841-29636847	NF2	K69fs	Schwannomatosis 1	Pathogenic (Dec 1, 1997)	no assertion criteria provided
Select item 80366427.	NM_000268.4(NF2):c.223_240+8del GRCh37: Chr22:30032848-30032873 GRCh38: Chr22:29636859-29636884	NF2		Neurofibromatosis, type 2	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 145170728.	NM_000268.4(NF2):c.229del (p.Met77fs) GRCh37: Chr22:30032851 GRCh38: Chr22:29636862	NF2	M77fs	Neurofibromatosis, type 2	Pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 96381829.	NM_000268.4(NF2):c.240+1G>A GRCh37: Chr22:30032866 GRCh38: Chr22:29636877	NF2		Neurofibromatosis, type 2	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 84878830.	NM_000268.4(NF2):c.240+1G>C GRCh37: Chr22:30032866 GRCh38: Chr22:29636877	NF2		Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 328331.	NM_000268.4(NF2):c.240+1G>T GRCh37: Chr22:30032866 GRCh38: Chr22:29636877	NF2		Neurofibromatosis, type 2	Pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 107258932.	NM_000268.4(NF2):c.240+2T>C GRCh37: Chr22:30032867 GRCh38: Chr22:29636878	NF2		Neurofibromatosis, type 2	Pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 107259033.	NM_000268.4(NF2):c.241-2A>G GRCh37: Chr22:30035077 GRCh38: Chr22:29639088	NF2		Neurofibromatosis, type 2	Pathogenic (Sep 25, 2022)	criteria provided, single submitter
Select item 202930134.	NM_000268.4(NF2):c.241-1G>A GRCh37: Chr22:30035078 GRCh38: Chr22:29639089	NF2		Neurofibromatosis, type 2	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 210545235.	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 41757436.	NC_000022.11:g.(?_29639090)_(29639212_?)del GRCh37: Chr22:30035079-30035201 GRCh38: Chr22:29639090-29639212	NF2		Neurofibromatosis, type 2	Likely pathogenic (Sep 3, 2016)	criteria provided, single submitter
Select item 86106037.	NM_000268.4(NF2):c.251dup (p.His84fs) GRCh37: Chr22:30035088-30035089 GRCh38: Chr22:29639099-29639100	NF2	H42fs, H84fs	Neurofibromatosis, type 2	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 213842938.	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 45791139.	NM_000268.4(NF2):c.273del (p.Val92fs) GRCh37: Chr22:30035111 GRCh38: Chr22:29639122	NF2	V50fs, V92fs	Neurofibromatosis, type 2	Pathogenic (May 18, 2021)	criteria provided, single submitter
Select item 145257340.	NM_000268.4(NF2):c.302_303del (p.Tyr101fs) GRCh37: Chr22:30035139-30035140 GRCh38: Chr22:29639150-29639151	NF2	Y59fs, Y101fs	Neurofibromatosis, type 2	Pathogenic (Nov 29, 2021)	criteria provided, single submitter
Select item 107486941.	NM_000268.4(NF2):c.320_321del (p.Glu107fs) GRCh37: Chr22:30035156-30035157 GRCh38: Chr22:29639167-29639168	NF2	E107fs, E65fs	Neurofibromatosis, type 2	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 97025442.	NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer) GRCh37: Chr22:30035157-30035163 GRCh38: Chr22:29639168-29639174	NF2		Neurofibromatosis, type 2	Pathogenic (Sep 19, 2020)	criteria provided, single submitter
Select item 95552743.	NM_000268.4(NF2):c.322del (p.Glu108fs) GRCh37: Chr22:30035159 GRCh38: Chr22:29639170	NF2	E108fs, E66fs	Neurofibromatosis, type 2	Pathogenic (Oct 30, 2019)	criteria provided, single submitter
Select item 54770444.	NM_000268.4(NF2):c.354CTT[1] (p.Phe119del) GRCh37: Chr22:30035190-30035192 GRCh38: Chr22:29639201-29639203	NF2	F119del, F77del	Neurofibromatosis, type 2	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 143071445.	NM_000268.4(NF2):c.363+1G>T GRCh37: Chr22:30035202 GRCh38: Chr22:29639213	NF2		Neurofibromatosis, type 2	Pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 63537246.	NM_000268.4(NF2):c.363+1G>A GRCh37: Chr22:30035202 GRCh38: Chr22:29639213	NF2		Schwannomatosis 1	Pathogenic (Jul 24, 2019)	criteria provided, single submitter
Select item 106762347.	NM_000268.4(NF2):c.363+2T>C GRCh37: Chr22:30035203 GRCh38: Chr22:29639214	NF2		Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 2	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58385548.	NC_000022.11:g.(?_29642196)_(29642291_?)del GRCh37: Chr22:30038185-30038280 GRCh38: Chr22:29642196-29642291	NF2		Neurofibromatosis, type 2	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 106958749.	NM_000268.4(NF2):c.375_376del (p.Gln125fs) GRCh37: Chr22:30038201-30038202 GRCh38: Chr22:29642212-29642213	NF2	Q125fs, Q42fs, Q83fs, Q84fs	Neurofibromatosis, type 2	Pathogenic (Mar 15, 2018)	criteria provided, single submitter
Select item 129760550.	NM_000268.4(NF2):c.422T>C (p.Leu141Pro) GRCh37: Chr22:30038249 GRCh38: Chr22:29642260	NF2	L100P, L141P, L58P, L99P	not provided	Likely pathogenic	no assertion criteria provided
Select item 85526451.	NM_000268.4(NF2):c.431dup (p.Tyr144Ter) GRCh37: Chr22:30038257-30038258 GRCh38: Chr22:29642268-29642269	NF2	Y144, Y102, Y103, Y61	Neurofibromatosis, type 2	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 203058452.	NM_000268.4(NF2):c.433_434del (p.Ala145fs) GRCh37: Chr22:30038259-30038260 GRCh38: Chr22:29642270-29642271	NF2	A104fs, A103fs, A145fs, A62fs	Neurofibromatosis, type 2	Pathogenic (Sep 15, 2022)	criteria provided, single submitter
Select item 99243553.	NM_000268.4(NF2):c.432del (p.Ser143_Tyr144insTer) GRCh37: Chr22:30038259 GRCh38: Chr22:29642270	NF2		Neurofibromatosis, type 2	Pathogenic (Sep 9, 2020)	no assertion criteria provided
Select item 41220154.	NM_000268.4(NF2):c.432C>G (p.Tyr144Ter) GRCh37: Chr22:30038259 GRCh38: Chr22:29642270	NF2	Y144, Y102, Y61, Y103	Neurofibromatosis, type 2	Pathogenic (Nov 10, 2021)	criteria provided, single submitter
Select item 145272955.	NM_000268.4(NF2):c.439C>T (p.Gln147Ter) GRCh37: Chr22:30038266 GRCh38: Chr22:29642277	NF2	Q105, Q106, Q147, Q64	Neurofibromatosis, type 2	Pathogenic (Sep 9, 2021)	criteria provided, single submitter
Select item 96964056.	NM_000268.4(NF2):c.447+1del GRCh37: Chr22:30038274 GRCh38: Chr22:29642285	NF2		Neurofibromatosis, type 2	Pathogenic (Jun 4, 2019)	criteria provided, single submitter
Select item 132949257.	NM_000268.4(NF2):c.447+2T>C GRCh37: Chr22:30038276 GRCh38: Chr22:29642287	NF2		Neurofibromatosis, type 2, not provided	Pathogenic/Likely pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145774358.	NM_000268.4(NF2):c.448-2A>G GRCh37: Chr22:30050644 GRCh38: Chr22:29654655	NF2		Neurofibromatosis, type 2, not provided	Pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 131964659.	NM_000268.4(NF2):c.448-1G>A GRCh37: Chr22:30050645 GRCh38: Chr22:29654656	NF2		Schwannomatosis 1, Neurofibromatosis, type 2	Pathogenic (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145583260.	NM_000268.4(NF2):c.452del (p.Gly151fs) GRCh37: Chr22:30050649 GRCh38: Chr22:29654660	NF2	G68fs, G109fs, G110fs, G151fs	Neurofibromatosis, type 2	Pathogenic (Jun 12, 2021)	criteria provided, single submitter
Select item 107479161.	NM_000268.4(NF2):c.457dup (p.Tyr153fs) GRCh37: Chr22:30050654-30050655 GRCh38: Chr22:29654665-29654666	NF2	Y111fs, Y112fs, Y153fs, Y70fs	Neurofibromatosis, type 2	Pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 58617562.	NM_000268.4(NF2):c.461_479dup (p.Gly161fs) GRCh37: Chr22:30050656-30050657 GRCh38: Chr22:29654667-29654668	NF2	G119fs, G120fs, G78fs, G161fs	not provided	Pathogenic (Sep 20, 2017)	criteria provided, single submitter
Select item 174223763.	NM_000268.4(NF2):c.465dup (p.Ser156fs) GRCh37: Chr22:30050659-30050660 GRCh38: Chr22:29654670-29654671	NF2	S115fs, S114fs, S156fs, S73fs	Hereditary cancer-predisposing syndrome	Pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 54770564.	NM_000268.4(NF2):c.465del (p.Ser156fs) GRCh37: Chr22:30050660 GRCh38: Chr22:29654671	NF2	S73fs, S114fs, S115fs, S156fs	Neurofibromatosis, type 2	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 99590165.	NM_000268.4(NF2):c.470_479dup (p.Gly161fs) GRCh37: Chr22:30050666-30050667 GRCh38: Chr22:29654677-29654678	NF2	G119fs, G120fs, G161fs, G78fs	Neurofibromatosis, type 2	Pathogenic (Dec 15, 2020)	criteria provided, single submitter
Select item 180311266.	NM_000268.4(NF2):c.476del (p.Lys159fs) GRCh37: Chr22:30050673 GRCh38: Chr22:29654684	NF2	K117fs, K118fs, K159fs, K76fs	Neurofibromatosis, type 2	Pathogenic (Dec 19, 2019)	criteria provided, single submitter
Select item 107439567.	NM_000268.4(NF2):c.481G>T (p.Gly161Ter) GRCh37: Chr22:30050679 GRCh38: Chr22:29654690	NF2	G119, G120, G161, G78	Neurofibromatosis, type 2	Pathogenic (Sep 26, 2020)	criteria provided, single submitter
Select item 202448268.	NM_000268.4(NF2):c.483del (p.Leu163fs) GRCh37: Chr22:30050681 GRCh38: Chr22:29654692	NF2	L121fs, L122fs, L163fs, L80fs	Neurofibromatosis, type 2	Pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 80366669.	NM_000268.4(NF2):c.493C>T (p.Gln165Ter) GRCh37: Chr22:30050691 GRCh38: Chr22:29654702	NF2	Q123, Q124, Q82, Q165	Neurofibromatosis, type 2	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 180310070.	NM_000268.4(NF2):c.499G>T (p.Glu167Ter) GRCh37: Chr22:30050697 GRCh38: Chr22:29654708	NF2	E125, E126, E129, E167, E84, E90	Neurofibromatosis, type 2	Pathogenic (Jul 30, 2019)	criteria provided, single submitter
Select item 98537271.	NM_000268.4(NF2):c.516+1G>T GRCh37: Chr22:30050715 GRCh38: Chr22:29654726	NF2		Inborn genetic diseases	Likely pathogenic (Jul 18, 2018)	criteria provided, single submitter
Select item 64667572.	NM_000268.4(NF2):c.516+1G>A GRCh37: Chr22:30050715 GRCh38: Chr22:29654726	NF2		Neurofibromatosis, type 2	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 56583673.	NM_000268.4(NF2):c.516+2T>G GRCh37: Chr22:30050716 GRCh38: Chr22:29654727	NF2		Neurofibromatosis, type 2	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 65426774.	NM_000268.4(NF2):c.517-92_568del GRCh37: Chr22:30051485-30051628 GRCh38: Chr22:29655496-29655639	NF2		Neurofibromatosis, type 2	Pathogenic (Nov 8, 2018)	criteria provided, single submitter
Select item 41220775.	NM_000268.4(NF2):c.517-2A>G GRCh37: Chr22:30051581 GRCh38: Chr22:29655592	NF2		Neurofibromatosis, type 2	Pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 42378976.	NM_000268.4(NF2):c.517-1G>A GRCh37: Chr22:30051582 GRCh38: Chr22:29655593	NF2		not provided, Neurofibromatosis, type 2	Pathogenic (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94545477.	NM_000268.4(NF2):c.531T>A (p.Tyr177Ter) GRCh37: Chr22:30051597 GRCh38: Chr22:29655608	NF2	Y94, Y135, Y177, Y136	Neurofibromatosis, type 2	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 328978.	NM_000268.4(NF2):c.544G>T (p.Glu182Ter) GRCh37: Chr22:30051610 GRCh38: Chr22:29655621	NF2	E182, E141, E140, E99	Neurofibromatosis, type 2	Pathogenic (Aug 1, 1994)	no assertion criteria provided
Select item 48779679.	NM_000268.4(NF2):c.551G>A (p.Trp184Ter) GRCh37: Chr22:30051617 GRCh38: Chr22:29655628	NF2	W184, W101, W142, W143	Ependymoma	Likely pathogenic (Dec 29, 2017)	no assertion criteria provided
Select item 169890080.	NM_000268.4(NF2):c.553G>T (p.Glu185Ter) GRCh37: Chr22:30051619 GRCh38: Chr22:29655630	NF2	E102, E143, E144, E185	Neurofibromatosis, type 2	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 54770681.	NM_000268.4(NF2):c.560_561del (p.Arg187fs) GRCh37: Chr22:30051622-30051623 GRCh38: Chr22:29655633-29655634	NF2	R104fs, R146fs, R145fs, R187fs	Neurofibromatosis, type 2	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 52770382.	NM_000268.4(NF2):c.563_564del (p.Ile188fs) GRCh37: Chr22:30051629-30051630 GRCh38: Chr22:29655640-29655641	NF2	I105fs, I146fs, I147fs, I188fs	Neurofibromatosis, type 2	Pathogenic (Sep 6, 2017)	criteria provided, single submitter
Select item 174952083.	NM_000268.4(NF2):c.576C>A (p.Tyr192Ter) GRCh37: Chr22:30051642 GRCh38: Chr22:29655653	NF2	Y109, Y14, Y115, Y154, Y192, Y150, Y151*	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 58533084.	NM_000268.4(NF2):c.583_589del (p.His195fs) GRCh37: Chr22:30051646-30051652 GRCh38: Chr22:29655657-29655663	NF2	H112fs, H154fs, H153fs, H195fs	Spindle cell sarcoma	Pathogenic (Aug 27, 2018)	criteria provided, single submitter
Select item 45792185.	NM_000268.4(NF2):c.586C>T (p.Arg196Ter) GRCh37: Chr22:30051652 GRCh38: Chr22:29655663	NF2	R196, R113, R154, R155	Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211366386.	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 45792287.	NM_000268.4(NF2):c.592C>T (p.Arg198Ter) GRCh37: Chr22:30051658 GRCh38: Chr22:29655669	NF2	R198, R156, R115, R157	not provided, Neurofibromatosis, type 2	Pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145694588.	NM_000268.4(NF2):c.599+1G>A GRCh37: Chr22:30051666 GRCh38: Chr22:29655677	NF2		Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45792389.	NM_000268.4(NF2):c.599+1G>T GRCh37: Chr22:30051666 GRCh38: Chr22:29655677	NF2		Neurofibromatosis, type 2	Pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 145525590.	NM_000268.4(NF2):c.599+2T>G GRCh37: Chr22:30051667 GRCh38: Chr22:29655678	NF2		Neurofibromatosis, type 2	Pathogenic (Jun 21, 2021)	criteria provided, single submitter
Select item 80366891.	NM_000268.4(NF2):c.600-2A>G GRCh37: Chr22:30054176 GRCh38: Chr22:29658187	NF2		Neurofibromatosis, type 2	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 175167992.	NM_000268.4(NF2):c.610G>T (p.Glu204Ter) GRCh37: Chr22:30054188 GRCh38: Chr22:29658199	NF2	E166, E127, E121, E162, E204, E163, E26*	Hereditary cancer-predisposing syndrome	Pathogenic (May 14, 2021)	criteria provided, single submitter
Select item 202677893.	NM_000268.4(NF2):c.627_628del (p.Lys209fs) GRCh37: Chr22:30054204-30054205 GRCh38: Chr22:29658215-29658216	NF2	K126fs, K209fs, K168fs, K167fs	Neurofibromatosis, type 2	Pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 145421494.	NM_000268.4(NF2):c.634C>T (p.Gln212Ter) GRCh37: Chr22:30054212 GRCh38: Chr22:29658223	NF2	Q129, Q212, Q170, Q171	Neurofibromatosis, type 2	Pathogenic (Apr 5, 2021)	criteria provided, single submitter
Select item 107035395.	NM_000268.4(NF2):c.648_649dup (p.Tyr217fs) GRCh37: Chr22:30054224-30054225 GRCh38: Chr22:29658235-29658236	NF2	Y134fs, Y175fs, Y176fs, Y217fs	Neurofibromatosis, type 2	Pathogenic (May 27, 2020)	criteria provided, single submitter
Select item 44982996.	NM_000268.4(NF2):c.655G>A (p.Val219Met) GRCh37: Chr22:30054233 GRCh38: Chr22:29658244	NF2	V219M, V136M, V177M, V178M	not provided	Likely pathogenic (Mar 9, 2020)	criteria provided, single submitter
Select item 45792597.	NM_000268.4(NF2):c.656_657insA (p.Asn220fs) GRCh37: Chr22:30054234-30054235 GRCh38: Chr22:29658245-29658246	NF2	N137fs, N179fs, N178fs, N220fs	Neurofibromatosis, type 2	Pathogenic (Jul 19, 2017)	criteria provided, single submitter
Select item 64310298.	NM_000268.4(NF2):c.658A>T (p.Asn220Tyr) GRCh37: Chr22:30054236 GRCh38: Chr22:29658247	NF2	N178Y, N220Y, N137Y, N179Y	not provided, Neurofibromatosis, type 2	Pathogenic (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129759299.	NM_000268.4(NF2):c.663C>G (p.Tyr221Ter) GRCh37: Chr22:30054241 GRCh38: Chr22:29658252	NF2	Y138, Y179, Y180, Y221	Hereditary cancer-predisposing syndrome	Pathogenic (Jan 18, 2022)	criteria provided, single submitter
Select item 1067241100.	NM_000268.4(NF2):c.675+1del GRCh37: Chr22:30054252 GRCh38: Chr22:29658263	NF2		Neurofibromatosis, type 2	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter

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