AiPD: Autoinhibited Protein Database

P35240

Gene name	NF2 (SCH)
Protein name	Merlin
Names	Moesin-ezrin-radixin-like protein , Neurofibromin-2 , Schwannomerlin , Schwannomin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4771
EC number
Protein Class	MERLIN/MOESIN/EZRIN/RADIXIN (PTHR23281)

Descriptions

The tumor suppressor gene Nf2 encodes the protein 4.1, Ezrin, Radixin, Moesin (FERM) domain-containing protein Merlin. The tumor suppressor Merlin/NF2 functions upstream of the core Hippo pathway kinases Lats1/2 and Mst1/2, as well as the nuclear E3 ubiquitin ligase CRL4.
Merlin’s autoinhibitory tail physically blocks the Lats1/2-binding site on the Merlin FERM domain. Angiomotin binding releases this autoinhibition, promoting Merlin’s binding to Lats1/2, leading to activation of Hippo pathway kinases.

Autoinhibitory domains (AIDs)

Target domain	19-313 (FERM domain)
Relief mechanism	Partner binding
Assay	Structural analysis, Mutagenesis experiment

AID

507-595 (C-terminal autoinhibitory tail)

Target domain

19-313 (FERM domain)

Relief mechanism

Partner binding (Binding of angiomotin to the autoinhibitory tail)

Assay

Structural analysis, Mutagenesis experiment

Accessory elements

No accessory elements

References

Li Y et al. (2015) "Angiomotin binding-induced activation of Merlin/NF2 in the Hippo pathway", Cell research, 25, 801-17

Autoinhibited structure

Activated structure

7 structures for P35240

Entry ID	Method	Resolution	Chain	Position	Source
1H4R	X-ray	180 A	A/B	1-313	PDB
3U8Z	X-ray	264 A	A/B/C/D	18-312	PDB
4ZRI	X-ray	270 A	A/B	1-320	PDB
4ZRJ	X-ray	230 A			PDB
6CDS	X-ray	262 A	A/B	1-339	PDB
7LWH	X-ray	161 A	A	1-339	PDB
AF-P35240-F1	Predicted				AlphaFoldDB

596 variants for P35240

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000686587 rs1351718417	1	M>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1319282473 RCV001751446 RCV001229737	1	M>V	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000791157 RCV000791159 CA411145682 RCV000791158 rs1601515682	2	A>S	Neurofibromatosis, type 2 Schwannomatosis 1 Familial meningioma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2064712705 RCV001236380	4	A>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA323099675 rs998779035 RCV002397595 RCV000797514	5	I>M	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2064713500 RCV001222566	6	A>D	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001012795 CA411145753 rs1601515753	6	A>P	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001339071 rs868416935	8	R>C	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1249717688 CA411145809 RCV001016063 RCV001873273	9	M>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2064714417 RCV001337461	11	F>C	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001862673 rs1418675250 RCV001090276	14	L>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA411145908 RCV000582954 rs1555978356	15	K>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001024424 RCV001873380 CA411145987 rs1601515928	19	P>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000660129 rs1555978369	20	K>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs2064715459 RCV001208229	20	K>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs2064715459 RCV001040486	20	K>Q	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001338495 rs2064715937	23	T>P	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1601515970 RCV000798498	24	V>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs773714780 RCV001026153 RCV001862356 CA036034	24	V>A	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1569259813 RCV001026507 CA411146095 RCV000703501	25	R>K	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001041379 rs2064716522	25	R>W	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs2064716954 RCV001055704	26	I>M	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA16621093 RCV000480221 RCV002526623 rs1064795612	26	I>T	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2064717331 RCV001052677	29	M>V	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA411146184 rs1601516058 RCV001018483	30	D>N	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001019416 RCV001236960 CA323099731 rs373337083	32	E>K	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA411146303 rs372279458 RCV001009871	36	N>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM1717399 rs372279458 RCV000733228 RCV001085689 RCV000121642 CA021291 RCV000564583	36	N>S	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome pleura [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs761188569 CA031138 RCV001241361 RCV002375276	39	M>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
CA411152423 rs1555986860 RCV000523383 RCV000811191 COSM1415542 COSM144189	41	W>*	Neurofibromatosis, type 2 large_intestine soft_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000003460 rs587776564	43	G>missing	Schwannomatosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001315989 rs370147621	45	D>N	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA411152472 RCV002393236 RCV001047860 rs1352608076	48	D>N	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001053347 CA031082 rs764901064 RCV002400308	52	R>W	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA411152504 RCV000801845 rs1601578990	53	T>A	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM21991 RCV000255708 COSM1415545 CA021370 RCV000003446 rs121434259 RCV002399307 RCV000660130	57	R>*	kidney Neurofibromatosis, type 2 large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. soft_tissue pleura Meningioma meninges [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs368773485 COSM1415546 RCV000567851 COSM1415547 RCV000531276 CA031037	57	R>Q	Neurofibromatosis, type 2 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000990406 rs1601579095	60	W>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA411152548 rs780872661 RCV000581833	60	W>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA411152553 RCV001298580 RCV002411950 rs1286915234 RCV002464444	61	F>S	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs121434261 VAR_000810 CA021406 RCV000003458	62	F>S	Neurofibromatosis, type 2 NF2; loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs2065661430 RCV001303321	64	L>P	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001071089 rs2065661533	65	Q>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs772274240 RCV000632633 CA030957 RCV003156268 RCV001013893	66	Y>N	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs587776565 RCV000003461	69	K>missing	Schwannomatosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs559558673 RCV001349308	70	D>H	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA411152626 RCV001014488 RCV000765628 rs1260510937 RCV000689963	72	V>A	Neurofibromatosis, type 2 Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001202646 rs2065663095	74	W>C	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_043011	77	M>V	NF2 [UniProt]	Yes	UniProt
rs2065727847 RCV002456419 RCV001316780	82	L>P	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs777858863 RCV001015508 RCV000632642	82	L>missing	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2065728187 RCV001067490	84	H>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA030442 RCV002456407 rs773740023 RCV001313301	84	H>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2065728465 RCV001327148	85	D>H	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV002429914 RCV001214722 CA030350 rs547255779	88	K>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV000704229 rs1569281659 CA411153131	91	P>Q	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001247227 rs1569281659 RCV002436969	91	P>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000632651 rs1555987645 CA411153125	91	P>T	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1555987647 RCV000537390	92	V>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA030344 rs145935225 RCV001059774	92	V>I	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV001016685 rs1601583588 CA411153178	94	F>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000003449 rs121434260 RCV002466392	96	F>missing	Neurofibromatosis, type 2 Schwannomatosis 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_000812	96	F>del	NF2; also found in sporadic meningioma [UniProt]	Yes	UniProt
RCV000470208 CA16616362 rs1060503668	98	A>D	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA030323 RCV001017700 rs181794923 RCV000806495	99	K>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV000526156 rs1555987677 CA411153250	100	F>L	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000536025 CA411153257 rs1240469044 RCV001018182	101	Y>F	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000820005 rs1601583679 CA411153264	102	P>R	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001063233 rs2065731005	104	N>T	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_000813	106	E>G	NF2 [UniProt]	Yes	UniProt
rs2065731800 RCV001245794	107	E>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1435118870 RCV001297026 CA411153297	107	E>K	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001228183 rs2065731921	108	E>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA411153316 RCV000792556 rs1601583740	109	L>P	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002319932 rs1601583759 RCV000824565 CA411153319	110	V>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2065732351 RCV001036416	111	Q>P	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs781593146 RCV001020056 CA030281	112	E>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001351794 rs1328289194	113	I>L	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000819614 RCV002453879 rs1350618734 CA411153353	115	Q>E	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001020352 CA030265 RCV000472642 rs746369012	115	Q>H	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001020335 RCV001308325 rs1601583772	115	Q>missing	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA323121220 RCV000811203 RCV001020398 rs371373672	116	H>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP
rs1569281810 RCV000709605 CA411153367	117	L>V	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001065649 RCV002451281 rs2065733287	118	F>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1555987732 RCV000660131	119	F>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA323121241 rs1006294051 RCV001860997 RCV001020740	121	Q>E	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1601589425 RCV000796419 RCV002345757 CA411153724	124	K>Q	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002350665 RCV001352490 rs2065829948	125	Q>H	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000227774 rs878853927 CA10583920	131	I>L	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_065227	133	C>R	NF2 [UniProt]	Yes	UniProt
RCV000524823 CA323123711 rs1029716358 RCV002358459	134	P>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000632638 CA411153798 rs1555988776	134	P>S	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_043012	141	L>P	NF2; loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex [UniProt]	Yes	UniProt
rs2065831600 RCV001280884	143	S>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001060499 rs2065831369	144	Y>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1060503667 COSM1565969 COSM23801 COSM23902 RCV000462897 CA16616357	144	Y>*	Neurofibromatosis, type 2 large_intestine central_nervous_system soft_tissue meninges [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
CA411153863 RCV001022322 rs1185977513	145	A>T	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
COSM24562 RCV001022369 COSM1415578 RCV000695252 rs771572024 CA033344	146	V>I	Neurofibromatosis, type 2 large_intestine Hereditary cancer-predisposing syndrome meninges [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001349819 rs2065831928	147	Q>P	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA411142125 RCV000793183 COSM1415580 RCV001022734 COSM1415581 rs1374299963	153	Y>H	Neurofibromatosis, type 2 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV001332326 RCV001865749 rs2066246942	155	P>A	Neurofibromatosis, type 2 Familial meningioma [ClinVar]	Yes	ClinVar dbSNP
RCV000660132 rs1555992948	156	S>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001148087 rs2066247273	158	H>R	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001023071 CA323109746 rs867595517 RCV000813561	160	R>Q	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000471284 rs150667239 RCV002329084 CA033584	160	R>W	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1601611973 CA411142208 RCV000990409	165	Q>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs779353677 RCV000687173 RCV002334259 CA033635	166	E>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001067171 RCV002339334 rs2066248439	167	E>Q	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001041981 rs182990439	168	L>F	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001343229 rs2066248635	169	L>P	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000796421 rs752963731 RCV002477814 RCV002334485 CA033663	172	R>K	Neurofibromatosis, type 2 Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000694190 rs1346860299 RCV002334307 CA411142281	174	I>T	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA411142290 RCV001023815 rs1601613495	175	N>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2066278699 RCV001309891	175	N>S	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001216099 rs780880330	177	Y>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000850449 CA411142552 rs1601613523	179	M>V	Marfanoid habitus and intellectual disability [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1362524399 RCV001043989 RCV002348366 CA411142570	181	P>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs74315495 RCV000003450 CA021432	182	E>*	Neurofibromatosis, type 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV002348377 RCV001047156 rs2066279652	182	E>G	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM23845 rs1555993293 CA411142590 COSM22294 RCV000577850	184	W>*	Variant assessed as Somatic; impact. Ependymoma meninges [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV001210547 CA411142610 rs1325902176	186	E>D	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000660133 rs1555993301	187	R>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000525596 RCV002350193 CA411142614 rs1234052589	187	R>K	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000632648 rs1555993313	188	I>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs2066280562 RCV001043990	189	T>I	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1555993319 RCV000505576 CA411142651	192	Y>C	Choroid plexus carcinoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000714280 rs1569294187	195	H>missing	Spindle cell sarcoma [ClinVar]	Yes	ClinVar dbSNP
RCV002358461 RCV000554782 rs1555993336 COSM22254 CA411142679 RCV000599281	196	R>*	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome soft_tissue meninges [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs749176138 RCV001024635 CA034087 COSM1415595 RCV001372483 COSM1415594	196	R>Q	Neurofibromatosis, type 2 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
VAR_043013	197	G>C	NF2 [UniProt]	Yes	UniProt
COSM1663043 COSM22432 rs1555993345 RCV000533078 CA411142708 RCV000712410	198	R>*	lung kidney Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. central_nervous_system soft_tissue [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000553734 rs1261707371 RCV001024724 CA411142713	199	A>T	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA411142722 RCV002357208 rs1487106309 RCV001352421	200	R>G	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1601618525 RCV002357184 RCV001343056	201	D>G	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA411142966 rs1601618525 RCV000796859	201	D>V	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000709606 rs1569295916 RCV001024908 CA411142984	204	E>Q	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA034466 rs747871414 RCV002257726 RCV000466594	205	M>T	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000234683 rs141629512 CA034441 RCV000455031 RCV001706246 RCV000565164	205	M>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1601618565 CA411143007 RCV001024994	207	Y>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1601618585 RCV000857311 CA411143060	214	L>P	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001232411 rs2066372172	216	M>T	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001313568 RCV002366162 CA411143087 rs776818377	218	G>C	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA034547 RCV002360733 RCV000689959 rs776818377	218	G>S	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000531744 rs1555994819	220	N>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000796728 RCV001578021 CA411143099 rs1601618646 VAR_000818	220	N>Y	Neurofibromatosis, type 2 NF2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
COSM71827 RCV000694486 CA034569 rs746025177 RCV001025472	221	Y>C	ovary Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000791971 rs1555994825 CA411143127 RCV002360910	224	I>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA411143134 rs1386029079 RCV002366076 RCV001244541	225	R>W	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA10650983 RCV000368005 RCV000572255 rs886057336	226	N>H	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2066466759 RCV001206494	227	K>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001025713 CA034790 RCV000632636 rs145384260	228	K>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000794708 rs1028670573 RCV002370076 CA323111820	229	G>C	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs770019352 RCV002552404 RCV001025806 CA034802	231	E>Q	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_009123	234	L>R	NF2; also found in retinal hamartoma; severe [UniProt]	Yes	UniProt
rs2066467805 RCV001296047	237	D>H	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs761195572 RCV001026080 RCV000701250 RCV002305530 COSM144202 CA323111825	238	A>V	Neurofibromatosis, type 2 liver Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
CA411143834 RCV000820738 rs1480040681	242	H>Q	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001308046 rs2066468739	244	Y>C	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs2066468835 RCV001219319 RCV002379827	245	D>N	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1569297802 RCV000700351 CA411143859	246	P>S	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2066469348 RCV001204936	248	N>S	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1601624078 RCV000990412	249	R>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000700763 RCV002388309 rs1432132718 CA411143890	250	L>Q	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002388250 CA035009 RCV000693842 rs773573049	253	K>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA411143976 RCV001862377 RCV001026687 rs1474769404	256	F>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000806949 rs753300935 RCV002397647 CA035071	257	P>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001322314 rs753300935 RCV000571634 CA411143999	257	P>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs777059212 RCV001349619 RCV002404830 CA323111841	257	P>S	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1601624186 CA411144010 RCV000817067	258	W>G	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA021439 RCV000003451 COSM1578860 rs74315496 COSM22000	262	R>*	ovary Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. soft_tissue meninges [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
COSM1415620 rs1450914413 COSM1415619 CA411144093 RCV002409389 RCV001040559	262	R>Q	Neurofibromatosis, type 2 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
CA411144141 RCV001026988 rs1601624241	265	S>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA411144163 rs917257652 RCV000632637	266	Y>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000566102 CA411144535 rs1555997534	272	T>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001027248 rs1368184325 RCV000709607 CA411144537	273	I>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2066578758 RCV001204287	274	K>E	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001017547 rs762883753 CA035426 RCV001206141	277	D>E	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1601630493 RCV001304633 CA411144627 RCV001017843	282	V>A	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000686768 rs764034925 CA035447	284	K>R	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA035473 RCV001306383 rs757074151	286	N>S	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001090178 rs2066580454	288	S>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA035525 RCV001018243 RCV000689082 rs755200117	291	R>H	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA411144785 RCV001215781 rs1442581021 RCV003163656	292	V>I	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001058423 rs2066685117	299	L>P	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV002369838 rs1255367068 CA411145608 RCV000992439 RCV000687514	302	G>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA411145642 RCV000533798 rs1555998800	304	H>R	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1399716137 RCV001351322 RCV003106204 CA411145679 RCV002377493	306	L>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs2066686693 RCV001346791 RCV002377471	308	M>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000528823 CA411145785 rs1169276398 RCV002377023	311	R>K	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000990414 rs1601636894	313	A>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1365006505 RCV002374958 CA411145840 RCV001062765	314	D>N	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000436646 RCV000561700 rs750633919 RCV000534581 CA035949	316	L>W	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001230695 rs996057882	318	V>F	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA323114520 RCV001222414 rs996057882 RCV002249811	318	V>I	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs74315497 COSM1717398 CA021453 RCV000003452	320	Q>*	Neurofibromatosis, type 2 pleura [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000632647 rs1555998851	324	Q>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001049541 rs74315500	324	Q>E	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs2066689643 RCV001209148	325	A>V	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV002381286 RCV000034593 rs200372028 CA021461 RCV000632655	328	E>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2066690499 RCV001233274	331	R>T	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000003445 rs587776563	332	K>missing	Meningioma [ClinVar]	Yes	ClinVar dbSNP
RCV002379536 CA411146221 RCV001048657 rs1469191017	333	Q>H	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002358458 rs1556000094 CA411146630 RCV000544876	334	M>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000793709 rs1601643866 CA411146667	335	E>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1601643866 RCV001341147	335	E>K	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000121645 CA021271 rs587778554 RCV001063079 RCV002426669 RCV001508929	336	R>Q	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002418790 RCV001229244 rs140266312 CA036517	336	R>W	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP
RCV000432645 CA036556 RCV001016950 RCV000559539 COSM184615 rs761795291	338	R>C	Neurofibromatosis, type 2 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000632652 rs768053145 CA036569 RCV001016957 COSM398148	338	R>H	lung Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001009688 rs780430071 CA16616604 RCV000477644	340	A>S	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000632653 rs780430071 RCV001009686 CA036618	340	A>T	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA021277 RCV000003453 rs74315499 COSM21990 COSM1136845 RCV000497720	341	R>*	kidney Neurofibromatosis, type 2 large_intestine Variant assessed as Somatic; impact. soft_tissue pleura meninges [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP
rs74315499 CA411146766 RCV001341353 RCV002412072	341	R>G	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000562485 rs754087071 RCV001050077 CA036649	341	R>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001017038 RCV000632639 rs754087071 CA036631	341	R>Q	Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000632654 CA411146842 rs1556000154	346	R>K	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2066801644 RCV001038052	346	R>S	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001308827 CA036693 rs747756728 RCV001017136	351	R>C	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA036706 RCV000457098 COSM1153986 RCV001017145 COSM1033211 VAR_029041 rs771675702	351	R>H	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs764441073 RCV000690349 COSM1682190 RCV002406553 COSM1682189 CA323116035 VAR_000821	352	T>M	Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue NF2 [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD
RCV000709608 rs1379674036 CA411146942 RCV001009764	353	R>S	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000990416 rs1601644146	354	D>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1435353346 CA411146946 RCV001009816	354	D>N	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA411146971 RCV002411607 rs1277506366 RCV001069581	355	E>D	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1178334764 RCV001327916	356	L>M	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA021284 VAR_000822 rs74315492 RCV000003443	360	L>P	Neurofibromatosis, type 2 NF2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001245353 rs2066804849	363	M>K	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs2066804849 RCV003160412 RCV001052574	363	M>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA411147101 RCV001017255 rs1601644296 RCV002549449	364	K>N	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002431870 RCV000632656 rs1556000214 CA411147155	368	T>I	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA411147161 rs1325119842 RCV001240544 RCV002436948	369	M>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000709609 rs142459414 CA411147199	371	N>K	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs577940601 RCV001038394 COSM3390158 RCV003160239 CA036832 COSM3390159	371	N>S	Neurofibromatosis, type 2 pancreas Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1556000763 CA411147960 RCV000538145	375	M>T	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA411147966 RCV002445398 RCV001145335 rs996964764	376	R>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000792747 CA323116559 rs996964764 RCV000564289	376	R>Q	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA323116556 rs867367858 RCV001224602 RCV002447128	376	R>W	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000705527 CA411147970 rs1569305865	377	S>A	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001210735 rs2066859618	388	A>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001854662 RCV001010065 RCV000121643 CA021299 rs587778553	388	A>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001320554 rs2066859953	389	Q>E	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001305131 rs1026724985 RCV002327668 CA323116566	392	E>K	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA411148094 RCV001010083 rs1601648303	395	A>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2066861004 RCV001352257	403	A>S	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001230738 rs2066861004	403	A>T	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs2066861383 RCV001069043	404	E>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
COSM1415651 rs74315501 COSM23855 RCV000003454 CA021304	407	Q>*	Neurofibromatosis, type 2 large_intestine soft_tissue meninges [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1601648452 RCV000990417	410	Q>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs773296925 RCV000687839 RCV002360726 RCV000791140 CA037284	411	R>C	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.787e-05 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs201214090 RCV001198705 RCV000632640 CA037304 RCV001249076 RCV000765629 RCV001010465	411	R>H	Neurofibromatosis, type 2 Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001209061 rs2066862452	412	I>L	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA037317 VAR_043014 rs766974263 RCV001348048	413	K>E	Neurofibromatosis, type 2 NF2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
COSM1592913 VAR_000824 rs765540111 RCV002280136 RCV000692241 CA029287 RCV001010549 COSM1033212	418	R>C	Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium vestibular schwannoma [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000466433 CA029295 rs548217466 RCV000569005	418	R>H	Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001204233 rs2066863778 RCV002447055	422	E>missing	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001229613 rs2066864084	422	E>K	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000795518 RCV002256506 CA029355 COSM171741 rs763826793	424	R>C	Neurofibromatosis, type 2 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA10650988 rs763826793 RCV000323107	424	R>G	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001010660 rs751182657 CA029378 RCV001218134	424	R>H	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA029388 RCV000558170 rs751182657 RCV002377021	424	R>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001010652 rs763826793 RCV000811524 CA411148394	424	R>S	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs760382219 RCV001062818	427	E>A	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000551522 RCV003159756 rs1361867592 CA411148504	430	V>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001302745 CA411148555 rs1449875899	433	A>T	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001226115 COSM1751795 rs779721863 CA029439 COSM1751794 RCV002379863	433	A>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome urinary_tract [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA411148585 rs1601648832 RCV000800642	434	E>G	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs992662337 CA323116641 RCV000632645 RCV002385991	434	E>K	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000525241 CA323116644 CA029467 RCV002384063 rs772334382	435	V>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002549329 CA411148595 RCV001010869 rs772334382	435	V>M	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV003117609 rs1601649018 RCV000822317	445	E>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001059235 rs1335612753	446	R>G	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs2066868182 RCV001054899	447	R>M	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs2066911555 RCV001295382 RCV002379987	448	A>G	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002379919 RCV001240426 rs2066911470	448	A>T	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000522897 rs1556001351 RCV000528431	449	K>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000632643 CA411148854 rs1556001358	453	Q>E	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA411148884 RCV000632634 rs1318882444 RCV002385990	455	K>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs867419294 RCV001204568	456	Q>E	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001343078 rs2066912673	457	D>V	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001242605 rs1457638896 CA411148930	458	L>R	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002395739 rs771143279 RCV001339097 CA029840	462	R>C	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001562976 rs373650983 RCV001011276 CA029862 RCV000229162	462	R>H	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs74315503 RCV000003455 CA021321	463	E>*	Neurofibromatosis, type 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs74315503 COSM23876 VAR_035848 RCV000574319 RCV000232242 CA029905 RCV003150991	463	E>K	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome soft_tissue breast a breast cancer sample; somatic mutation [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1415661 RCV002395308 RCV000553100 CA030005 RCV002286750 rs776109136 COSM1415660	464	A>V	Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001294063 rs2066914171	466	R>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
COSM23667 RCV000992438 rs74315504 RCV002390087 RCV000003456 CA021327	466	R>*	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome central_nervous_system soft_tissue meninges [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs74315504 RCV002393164 CA16616585 RCV000459035	466	R>G	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000531371 rs866689896 RCV001011356 COSM1033213 CA323117380	466	R>Q	Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
COSM144203 CA411149046 RCV001011380 RCV000810207 rs1294032875	467	R>K	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
rs2066915159 RCV001204813	472	L>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001011577 rs145666157 RCV001860670 CA411149210	480	T>K	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA031370 rs145666157 RCV001011579 RCV000361452	480	T>M	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2066916034 RCV001307236	481	Y>C	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA031430 RCV002388018 rs766339217 RCV000632635	482	P>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000571543 RCV001048459 rs766339217 CA323117433	482	P>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001051265 rs2067022285	483	P>A	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA021334 RCV000121644 rs141538143 RCV000229917 RCV000571402	484	M>T	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1182896077 CA411149540 RCV000632644 RCV001011649	484	M>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001011659 CA411149549 RCV001052829 RCV002290528 rs1601658875	485	N>Y	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001045754 rs147506929 CA411149561 RCV001011680	487	I>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
CA411149564 rs1601658904 RCV000807873	487	I>T	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001011703 rs1173959854 RCV001759691 RCV001800918 CA411149572	488	P>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs1601658938 RCV001011526	489	A>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002284426 CA031751 rs765100922 RCV001011729 RCV000688163	490	P>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002390670 rs776076922 CA031739 RCV000817812	490	P>S	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2067024378 RCV001247953	494	D>H	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1556002511 CA411149614 RCV000552063	495	I>R	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs900545157 RCV001011871 RCV000455655 CA16609788 RCV000804584	497	S>T	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV003126878 CA031798 rs767682136 RCV000632646 RCV001011925	501	I>T	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002388265 rs1315864916 CA411149652 RCV000696206	501	I>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1556002536 RCV000660135	503	D>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs756366940 CA031826 RCV001347799	504	S>I	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs756366940 CA411149673 RCV000818645	504	S>N	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs970051210 RCV000697559 CA323119256	506	S>C	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001012002 rs749326764 RCV001340322 CA031859	508	D>N	Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001234764 rs749326764	508	D>Y	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000264227 rs886057337 RCV002402068 CA10653290	510	K>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs201527155 RCV001350594	514	M>L	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
COSM327310 RCV001812175 RCV000565248 CA021341 rs201527155 RCV000203209	514	M>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2067027566 RCV001238097	515	K>R	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA411149755 rs1569309694 RCV001012056 RCV000695910	516	R>Q	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000660136 RCV002397341 rs1556002568 RCV001567642 CA411149762	517	L>P	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1601659358 RCV000820145 CA411149777 RCV001759604	519	M>I	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001297155 RCV002402825 rs2067028599	523	K>E	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001320074 RCV002402892 rs1060503673	525	K>N	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs74315505 CA021349 RCV000003457	527	E>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000703849 rs780818183 CA032332 RCV000569105	529	M>T	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002404818 RCV001347457 CA411150008 rs1456599218	529	M>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_043015	533	K>T	NF2 [UniProt]	Yes	UniProt
CA032373 rs769370159 RCV001059647	534	H>Y	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_000825 CA021356 RCV000003447 rs74315493	535	L>P	Neurofibromatosis, type 2 NF2; late onset [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002388213 rs946609084 CA411150072 RCV000688105	537	E>D	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs74315494 CA021363 RCV000003448 VAR_000826	538	Q>P	Neurofibromatosis, type 2 NF2; mild [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_043016	539	L>H	NF2 [UniProt]	Yes	UniProt
CA032390 RCV000685036 RCV000765630 RCV001012452 rs774824164	540	N>S	Neurofibromatosis, type 2 Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs878853925 RCV000232701 CA10583924 RCV002399811	543	K>*	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA032408 RCV001352498 rs762953921	544	T>A	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002404314 CA411150124 rs1556003698 RCV000499490 RCV000703302	545	E>D	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000573923 rs199669486 RCV000547087 CA032474	547	E>K	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000816884 rs1601666156 CA411150163	549	L>*	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000804920 rs1601666191	554	R>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA411150232 rs1601666203 RCV001210048 RCV002393473	554	R>G	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2067134618 RCV001234174 RCV002402733	554	R>K	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001324237 rs1601666203	554	R>W	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001064118 CA323120976 rs917012886 RCV001012608	559	D>Y	Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
RCV000696085 rs557347747 CA323120994 RCV001012613	560	I>V	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002408952 CA10583925 RCV000230079 rs878853926	562	H>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs768303416 RCV000792025 RCV001012713 CA323121011	563	N>S	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002397729 RCV000822796 CA411150374 rs1601666359	565	N>Y	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001012778 RCV000557509 RCV000765631 CA10175568 rs1049732514	567	D>E	Neurofibromatosis, type 2 Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV003148796 rs757586383 RCV000693900 RCV000562953 CA032649	567	D>N	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002397656 rs755032702 RCV000808513	568	R>missing	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA411150411 RCV000793791 rs1318481716	568	R>G	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002511013 RCV001860721 RCV001012754 CA032703 rs781488145	569	G>D	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2067137196 RCV003166477 RCV001237925	571	S>N	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA411150460 RCV001508930 RCV001325308 rs1379683835 RCV002402912	572	S>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1601666509 RCV001347919	574	H>P	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1601666509 RCV001012847 CA411150500 RCV001873240	574	H>R	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs867707782 RCV001319917	574	H>Y	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000709610 rs1569312127 CA411150517	575	N>S	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA411150525 RCV001220620 rs1601666549 RCV001012906	576	T>S	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001208733 rs2067138210	578	K>R	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_043017	579	K>M	NF2 [UniProt]	Yes	UniProt
RCV001297621 rs2067138432	579	K>Q	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs1601688849 RCV001012916 CA411152120	581	T>P	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001071119 rs2067498896	582	L>S	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs145446060 RCV002402567 RCV001201516	585	A>S	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs145446060 RCV000121647 RCV000232875 CA021394 RCV001013017	585	A>T	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1341371726 CA411152247 RCV002411898 RCV001243579 RCV001565668	588	R>*	Neurofibromatosis, type 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV002400215 rs766689587 CA040493 RCV001036052	588	R>Q	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1293851600 RCV000632649 CA411152257 RCV001013030	589	V>M	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA411152287 RCV001295641 rs1246154574	590	A>V	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001306432 rs2067500115	592	F>missing	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinVar dbSNP
rs764972504 RCV000997902 CA040529 RCV001269377 RCV001013097 RCV000468324	592	F>L	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1601689027 RCV000795725 CA411152378 RCV001013140	595	L>F	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA411152389 RCV000680047 rs1569319775	596	L>Q	Neurofibromatosis, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000599193 rs1555978325	1	M>T		No	ClinVar dbSNP
CA411145707 rs1333560181	3	G>E		No	ClinGen gnomAD
CA411145733 rs1256317044	5	I>V		No	ClinGen gnomAD
TCGA novel	7	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775564806 CA411145795	8	R>H		No	ClinGen ExAC gnomAD
rs775564806 CA411145799	8	R>L		No	ClinGen ExAC gnomAD
rs775564806 CA033605	8	R>P		No	ClinGen ExAC gnomAD
CA323099679 rs868416935	8	R>S		No	ClinGen gnomAD
RCV001009248 rs1601515836	11	F>missing		No	ClinVar dbSNP
rs774973059 CA034969	16	R>S		No	ClinGen ExAC TOPMed gnomAD
CA323099706 rs1006592023	17	K>Q		No	ClinGen TOPMed
rs1477242482 CA411145980	19	P>S		No	ClinGen gnomAD
rs1316115546 CA411146023	21	T>M		No	ClinGen gnomAD
rs965231734 CA323099729	27	V>F		No	ClinGen gnomAD
CA411146130 rs965231734	27	V>L		No	ClinGen gnomAD
CA037062 rs563168478	30	D>G		No	ClinGen 1000Genomes ExAC gnomAD
RCV001171721 rs2064717929	34	E>missing		No	ClinVar dbSNP
rs753425376 CA029336	34	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA411146291 rs1601516107	35	F>C		No	ClinGen Ensembl
rs976153071 CA323099732	35	F>L		No	ClinGen Ensembl
CA411146297 rs1332525934	36	N>D		No	ClinGen TOPMed gnomAD
rs1183208160 CA411146308	36	N>K		No	ClinGen TOPMed
CA031129 rs370147621	45	D>Y		No	ClinGen ESP ExAC gnomAD
VAR_000809	46	L>R	vestibular schwannoma; loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex [UniProt]	No	UniProt
CA031103 rs759129920	49	L>M		No	ClinGen ExAC gnomAD
rs1185209056 CA411152501	52	R>Q		No	ClinGen gnomAD
rs762440698 CA031061	54	L>R		No	ClinGen ExAC gnomAD
CA031054 rs764089682	55	G>R		No	ClinGen ExAC gnomAD
CA031012 rs780872661 CA030999	60	W>C		No	ClinGen ExAC gnomAD
CA411152544 rs1383283673	60	W>R		No	ClinGen Ensembl
COSM1415549 rs541636141 CA030964 COSM1415550	65	Q>R	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs778460074 CA030947	68	I>V		No	ClinGen ExAC gnomAD
CA323119396 rs559558673	70	D>Y		No	ClinGen 1000Genomes
rs1214018840 CA411152617	71	T>A		No	ClinGen gnomAD
CA323119397 rs998713939	77	M>I		No	ClinGen TOPMed
CA323119405 rs17851784	78	D>N		No	ClinGen Ensembl
VAR_000811	79	K>E	vestibular schwannoma [UniProt]	No	UniProt
rs1368647887 CA411152950	81	V>I		No	ClinGen gnomAD
TCGA novel	83	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374512699 CA030413	84	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA411152998 rs1347744596	84	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA030376 rs142380707	86	V>I		No	ClinGen ESP ExAC TOPMed
TCGA novel	92	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411153184 rs1351169677	95	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA411153236 rs1060503668	98	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411153256 rs1240469044	101	Y>C		No	ClinGen TOPMed
rs1355376652 CA411153260	102	P>T		No	ClinGen TOPMed
CA411153341 rs1328289194	113	I>F		No	ClinGen gnomAD
VAR_000814	117	L>I	sporadic meningioma [UniProt]	No	UniProt
VAR_000815	119	F>del	sporadic meningioma; no effect on interaction with SCHIP1 [UniProt]	No	UniProt
VAR_000816	122	V>del	sporadic meningioma [UniProt]	No	UniProt
rs139779327 CA031669	123	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA031871 rs780483061	126	I>V		No	ClinGen ExAC
CA411153776 rs878853927	131	I>F		No	ClinGen gnomAD
rs759344163 CA033237	133	C>S		No	ClinGen ExAC gnomAD
CA411153849 rs1388544922	142	A>V		No	ClinGen TOPMed
CA411153888 rs1160614926	149	K>E		No	ClinGen gnomAD
TCGA novel	151	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	152	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	153	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411142133 rs1330473001	154	D>H		No	ClinGen TOPMed gnomAD
CA411142132 rs1330473001	154	D>N		No	ClinGen TOPMed gnomAD
rs1247428319 CA411142162	158	H>Y		No	ClinGen TOPMed
rs1569293373 RCV000712409	161	G>missing		No	ClinVar dbSNP
CA411142180 rs1303879665	161	G>R		No	ClinGen gnomAD
CA411142186 RCV000489141 rs1085307593	162	F>L		No	ClinGen ClinVar dbSNP gnomAD
rs1232015629 CA411142199	163	L>F		No	ClinGen gnomAD
rs1197697212 CA411142250	171	K>E		No	ClinGen TOPMed gnomAD
CA411142260 rs1437469963	172	R>S		No	ClinGen TOPMed gnomAD
CA323110100 rs866605024	173	V>A		No	ClinGen Ensembl
TCGA novel	176	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	177	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA034036 rs745315897	180	T>A		No	ClinGen ExAC gnomAD
TCGA novel	187	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411142655 rs1427589827	193	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1175984329 CA411142659	193	A>V		No	ClinGen TOPMed
CA323110116 rs374494685	194	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1601613682 CA411142672 COSM3842437	195	H>P	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs796274139 CA323110118	195	H>Y		No	ClinGen Ensembl
CA411142957 rs1156687503	200	R>S		No	ClinGen gnomAD
COSM1484145 CA411143068 COSM444851 rs1309079426	215	E>D	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM22454 VAR_000817 rs1555994816 CA411143093 RCV000520911	219	V>M	soft_tissue meninges vestibular schwannoma; changed interaction with SCHIP1 [Cosmic, UniProt]	No	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs1298953582 CA411143132	224	I>M		No	ClinGen gnomAD
rs543087642 CA034581	225	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1468744457 COSM1535305 CA411143711 COSM1535306	230	T>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	237	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	238	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601623969 CA411143815	239	L>P		No	ClinGen Ensembl
CA411143832 rs1463287930	242	H>L		No	ClinGen gnomAD
CA323111830 rs771371228	242	H>N		No	ClinGen Ensembl
CA034900 rs774996651	243	I>V		No	ClinGen ExAC
CA411143855 rs1601624031	245	D>E		No	ClinGen Ensembl
RCV000518300 rs1555996156	247	E>missing		No	ClinVar dbSNP
CA323111834 rs1015291245	251	T>I		No	ClinGen TOPMed
CA411144118 rs1255835564	264	I>V		No	ClinGen TOPMed
RCV000585587 rs1555997533 CA411144527	271	F>C		No	ClinGen ClinVar Ensembl dbSNP
VAR_000819	273	I>F	breast ductal carcinoma [UniProt]	No	UniProt
rs549225513 CA035392	276	L>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	277	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	279	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296989223 CA411144599	281	D>H		No	ClinGen gnomAD
rs764034925 CA035459	284	K>M		No	ClinGen ExAC gnomAD
rs754093587 COSM1592914 CA035504 COSM1033210	291	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1405561483 CA411145534	296	I>V		No	ClinGen gnomAD
rs867836772 CA323114474	300	C>R		No	ClinGen Ensembl
rs199957176 CA323114478	301	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752879150 CA035867	301	I>V		No	ClinGen ExAC gnomAD
rs200272173 CA323114499	304	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411145728 rs1462083103	308	M>T		No	ClinGen gnomAD
CA035964 rs373606097	316	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327070383 CA411145939	321	M>L		No	ClinGen gnomAD
CA036022 rs746175548	322	K>N		No	ClinGen ExAC gnomAD
rs1276473501 CA411145997	323	A>S		No	ClinGen gnomAD
rs1317525094 CA411146005	323	A>V		No	ClinGen gnomAD
rs74315500 CA323114542 COSM22453	324	Q>*	Variant assessed as Somatic; impact. soft_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1275464115 CA411146037	325	A>S		No	ClinGen gnomAD
CA411146050 rs1569302357	326	R>G		No	ClinGen Ensembl
rs748792522 CA036070	326	R>K		No	ClinGen ExAC gnomAD
rs1263123754 CA411146096	328	E>K		No	ClinGen gnomAD
CA411146672 rs1305519234	335	E>G		No	ClinGen TOPMed
rs1601643896 RCV000992437	336	R>missing		No	ClinVar dbSNP
rs781468821 CA036539	336	R>GGSCL*		No	ClinGen ExAC
VAR_000820	339	L>F	sporadic meningioma [UniProt]	No	UniProt
rs1601644053 CA411146874	348	E>G		No	ClinGen Ensembl
CA036671 rs778412102	350	E>K		No	ClinGen ExAC gnomAD
TCGA novel	351	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001009090 rs1601644130	353	R>missing		No	ClinVar dbSNP
CA411146951 rs1601644179	354	D>G		No	ClinGen Ensembl
rs770949972 CA036777	358	R>S		No	ClinGen ExAC gnomAD
CA411147020 rs1465752977	359	R>G		No	ClinGen gnomAD
TCGA novel	359	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1580318 COSM22250 rs74315498 CA323116053	362	Q>*	central_nervous_system soft_tissue meninges [Cosmic]	No	ClinGen cosmic curated Ensembl
CA036791 rs776499914	363	M>V		No	ClinGen ExAC
VAR_000823	364	K>I	melanoma [UniProt]	No	UniProt
TCGA novel	365	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	367	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745637107 CA036810	369	M>T		No	ClinGen ExAC gnomAD
rs1445118992 CA411147175	370	A>T		No	ClinGen gnomAD
CA036865 rs761933185	373	A>T		No	ClinGen ExAC gnomAD
CA411147235 rs1280154812	374	L>R		No	ClinGen gnomAD
rs1468789751 CA411147991	380	T>A		No	ClinGen gnomAD
rs780987048 CA037045	380	T>R		No	ClinGen ExAC gnomAD
rs1476976440 CA411148043	388	A>T		No	ClinGen gnomAD
CA411148071 COSM1415649 COSM1415648 rs1407501982	392	E>G	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA411148070 rs1026724985	392	E>Q		No	ClinGen gnomAD
TCGA novel	397	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411148107 rs1324529447	397	L>V		No	ClinGen TOPMed
rs546551743 CA323116576	403	A>V		No	ClinGen Ensembl
RCV000498250 rs1556000842 COSM22209 CA411148247 COSM1415652	410	Q>*	large_intestine soft_tissue meninges [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1298310583 CA411148253	410	Q>L		No	ClinGen gnomAD
rs773296925 CA411148259	411	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	414	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA037335 rs776970251	415	T>P		No	ClinGen ExAC gnomAD
rs1216540232 CA411148337	419	T>K		No	ClinGen gnomAD
rs1216540232 TCGA novel CA411148341	419	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA029327 rs758128105	420	E>K		No	ClinGen ExAC gnomAD
CA323116629 rs1034099232	426	M>I		No	ClinGen TOPMed gnomAD
rs926406926 CA411148413	426	M>L		No	ClinGen TOPMed
rs926406926 CA323116626	426	M>V		No	ClinGen TOPMed
CA323116635 rs760382219	427	E>G		No	ClinGen gnomAD
CA411148621 rs1215998665	437	A>V		No	ClinGen gnomAD
CA411148654 rs1185801855	440	M>L		No	ClinGen gnomAD
rs1237243804 CA411148657	440	M>T		No	ClinGen gnomAD
rs1470741536 CA411148675	442	E>*		No	ClinGen gnomAD
CA411148685 rs1181051479	443	E>K		No	ClinGen gnomAD
TCGA novel	448	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1556001351	449	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1274431013 CA411148868	454	L>V		No	ClinGen gnomAD
COSM1415658 COSM1415657 CA323117342 rs867419294	456	Q>K	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1220807117 CA411148917	457	D>E		No	ClinGen gnomAD
rs1478205485 CA411149042	467	R>G		No	ClinGen TOPMed
TCGA novel	475	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761378464 CA031350	477	T>I		No	ClinGen ExAC gnomAD
CA323117422 rs768587800	479	P>S		No	ClinGen Ensembl
rs771692777 CA031659	483	P>L		No	ClinGen ExAC gnomAD
TCGA novel	483	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	485	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147506929 COSM23885 CA031714	487	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed
CA411149576 rs1156963577	489	A>E		No	ClinGen gnomAD
rs776076922 CA031726	490	P>A		No	ClinGen ExAC TOPMed gnomAD
CA411149591 rs1395872275	492	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1194776777 CA411149610	495	I>V		No	ClinGen TOPMed
rs1379773294 CA411149623	497	S>G		No	ClinGen gnomAD
TCGA novel	501	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA031809 rs552115565	502	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA323119270 rs140025001	511	D>V		No	ClinGen ESP
CA323119280 rs762588182	516	R>W		No	ClinGen Ensembl
rs1407304929 CA411149771	519	M>V		No	ClinGen gnomAD
CA411149791 rs1433909523	521	I>T		No	ClinGen gnomAD
CA411149801 rs1178488286	522	E>D		No	ClinGen gnomAD
rs770627371 CA032313	527	E>D		No	ClinGen ExAC gnomAD
rs745432431 CA032355	533	K>R		No	ClinGen ExAC gnomAD
CA411150087 rs1272126376	540	N>D		No	ClinGen gnomAD
CA411150103 rs1223799516	542	L>F		No	ClinGen gnomAD
CA323120931 rs935176708	544	T>I		No	ClinGen Ensembl
rs768422432 CA032438	545	E>Q		No	ClinGen ExAC
TCGA novel	552	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	553	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA032497 rs766752048	556	T>I		No	ClinGen ExAC gnomAD
rs754087219 CA032511	557	A>T		No	ClinGen ExAC gnomAD
rs765386271 COSM1134560 CA032541 COSM461127	558	L>V	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA032567 rs557347747	560	I>F		No	ClinGen ExAC TOPMed gnomAD
rs778127814 CA032603	562	H>Y		No	ClinGen ExAC gnomAD
rs1416009957 CA411150364	564	E>G		No	ClinGen TOPMed
rs1179425098 CA411150416	568	R>K		No	ClinGen TOPMed
CA411150447 rs1601666455	571	S>G		No	ClinGen Ensembl
rs1269401460 CA411150458	571	S>R		No	ClinGen gnomAD
CA411150463 rs1379683835	572	S>G		No	ClinGen TOPMed gnomAD
CA411150482 rs1229934044	573	K>T		No	ClinGen gnomAD
CA323121029 rs867707782	574	H>N		No	ClinGen Ensembl
CA040404 rs749475992	580	L>F		No	ClinGen ExAC gnomAD
CA411152126 rs1195615885	581	T>N		No	ClinGen gnomAD
CA411152132 rs1359450650	582	L>V		No	ClinGen TOPMed
rs761874138 CA040439	584	S>N		No	ClinGen ExAC gnomAD
TCGA novel	584	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA040475 rs761191666	587	S>F		No	ClinGen ExAC gnomAD
CA040515 rs759278621	591	F>L		No	ClinGen ExAC
rs1267811070 CA411152315	591	F>L		No	ClinGen gnomAD
rs1219624155 CA411152331	592	F>S		No	ClinGen gnomAD

2 associated diseases with P35240

[MIM: 101000]: Schwannomatosis, vestibular (SWNV)

An autosomal dominant neoplasia syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Affected individuals usually present with bilateral vestibular schwannomas but can have schwannomas on other cranial, spinal, and peripheral/cutaneous nerves. Meningiomas are common, whereas 20 to 35% of affected individuals develop intramedullary spinal cord tumors called ependymomas. The condition is also characterized by several ophthalmic features such as lenticular opacities, retinal hamartoma, epiretinal membranes. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 156240]: Mesothelioma, malignant (MESOM)

An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. . Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant neoplasia syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Affected individuals usually present with bilateral vestibular schwannomas but can have schwannomas on other cranial, spinal, and peripheral/cutaneous nerves. Meningiomas are common, whereas 20 to 35% of affected individuals develop intramedullary spinal cord tumors called ependymomas. The condition is also characterized by several ophthalmic features such as lenticular opacities, retinal hamartoma, epiretinal membranes. . Note=The disease is caused by variants affecting the gene represented in this entry.
An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. . Note=The disease may be caused by variants affecting the gene represented in this entry.

10 regional properties for P35240

Type	Name	Position	InterPro Accession
domain	FERM domain	22 - 311	IPR000299
domain	Ezrin/radixin/moesin, C-terminal	519 - 595	IPR011259
domain	FERM, N-terminal	28 - 86	IPR018979
domain	FERM, C-terminal PH-like domain	226 - 315	IPR018980
conserved_site	FERM conserved site	74 - 104	IPR019747-1
conserved_site	FERM conserved site	192 - 221	IPR019747-2
domain	FERM central domain	106 - 222	IPR019748
domain	Band 4.1 domain	18 - 222	IPR019749
domain	ERM family, FERM domain C-lobe	216 - 312	IPR041789
domain	Ezrin/radixin/moesin, alpha-helical domain	346 - 465	IPR046810

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cell projection, filopodium membrane; Peripheral membrane protein; Cytoplasmic side Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side Nucleus	In a fibroblastic cell line, isoform 1 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia Colocalizes with MPP1 in non-myelin-forming Schwann cells Binds with DCAF1 in the nucleus The intramolecular association of the FERM domain with the C-terminal tail promotes nuclear accumulation The unphosphorylated form accumulates predominantly in the nucleus while the phosphorylated form is largely confined to the non-nuclear fractions
PANTHER Family	PTHR23281	MERLIN/MOESIN/EZRIN/RADIXIN
PANTHER Subfamily	PTHR23281:SF23	MERLIN
PANTHER Protein Class	cytoskeletal protein actin or actin-binding cytoskeletal protein
PANTHER Pathway Category	No pathway information available

19 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
apical part of cell	The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue.
cell body	The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections.
cleavage furrow	The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm.
cortical actin cytoskeleton	The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
filopodium	Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft.
filopodium membrane	The portion of the plasma membrane surrounding a filopodium.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.

2 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
integrin binding	Binding to an integrin.

33 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
cell-cell junction organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells.
ectoderm development	The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation.
hippocampus development	The progression of the hippocampus over time from its initial formation until its mature state.
lens fiber cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a lens fiber cell, any of the elongated, tightly packed cells that make up the bulk of the mature lens in the camera-type eye. The cytoplasm of a lens fiber cell is devoid of most intracellular organelles including the cell nucleus, and contains primarily crystallins, a group of water-soluble proteins expressed in vary large quantities.
MAPK cascade	An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers
mesoderm formation	The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts.
negative regulation of cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of cell-cell adhesion	Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell.
negative regulation of cell-matrix adhesion	Any process that stops, prevents, or reduces the rate or extent of cell adhesion to the extracellular matrix.
negative regulation of MAPK cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the MAPKKK cascade.
negative regulation of osteoblast proliferation	Any process that stops, prevents or reduces the rate or extent of osteoblast proliferation.
negative regulation of receptor signaling pathway via JAK-STAT	Any process that stops, prevents, or reduces the frequency, rate or extent of a receptor signaling pathway via JAK-STAT.
negative regulation of Schwann cell proliferation	Any process that decreases the frequency or extent of the multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system.
negative regulation of tyrosine phosphorylation of STAT protein	Any process that stops, prevents, or reduces the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein.
odontogenesis of dentin-containing tooth	The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel.
osteoblast proliferation	The multiplication or reproduction of osteoblasts, resulting in the expansion of an osteoblast cell population. An osteoblast is a bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone.
positive regulation of cell differentiation	Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of early endosome to late endosome transport	Any process that activates or increases the frequency, rate or extent of early endosome to late endosome transport.
positive regulation of protein localization to early endosome	Any process that activates or increases the frequency, rate or extent of protein localization to early endosome.
positive regulation of stress fiber assembly	Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of gliogenesis	Any process that modulates the frequency, rate or extent of gliogenesis, the formation of mature glia.
regulation of hippo signaling	Any process that modulates the frequency, rate or extent of hippo signaling.
regulation of neural precursor cell proliferation	Any process that modulates the frequency, rate or extent of neural precursor cell proliferation.
regulation of organelle assembly	Any process that modulates the frequency, rate or extent of organelle assembly.
regulation of protein localization to nucleus	Any process that modulates the frequency, rate or extent of protein localization to nucleus.
regulation of protein stability	Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation.
regulation of stem cell proliferation	Any process that modulates the frequency, rate or extent of stem cell proliferation. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
Schwann cell proliferation	The multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system.

21 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P31976	EZR	Ezrin	Bos taurus (Bovine)	PR
Q2HJ49	MSN	Moesin	Bos taurus (Bovine)	PR
Q32LP2	RDX	Radixin	Bos taurus (Bovine)	SS
Q9PU45	RDX	Radixin	Gallus gallus (Chicken)	PR
P46150	Moe	Moesin/ezrin/radixin homolog 1	Drosophila melanogaster (Fruit fly)	SS
Q24564	Mer	Moesin/ezrin/radixin homolog 2	Drosophila melanogaster (Fruit fly)	SS
Q3KP66	INAVA	Innate immunity activator protein	Homo sapiens (Human)	PR
P26038	MSN	Moesin	Homo sapiens (Human)	EV
P15311	EZR	Ezrin	Homo sapiens (Human)	EV
P35241	RDX	Radixin	Homo sapiens (Human)	SS
A2AD83	Frmd7	FERM domain-containing protein 7	Mus musculus (Mouse)	PR
P26040	Ezr	Ezrin	Mus musculus (Mouse)	SS
P26041	Msn	Moesin	Mus musculus (Mouse)	SS
P26043	Rdx	Radixin	Mus musculus (Mouse)	SS
P46662	Nf2	Merlin	Mus musculus (Mouse)	SS
P26042	MSN	Moesin	Sus scrofa (Pig)	PR
P26044	RDX	Radixin	Sus scrofa (Pig)	SS
O35763	Msn	Moesin	Rattus norvegicus (Rat)	SS
P31977	Ezr	Ezrin	Rattus norvegicus (Rat)	SS
Q63648	Nf2	Merlin	Rattus norvegicus (Rat)	SS
Q6Q413	nf2b	NF2, moesin-ezrin-radixin-like	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MAGAIASRMS	FSSLKRKQPK	TFTVRIVTMD	AEMEFNCEMK	WKGKDLFDLV	CRTLGLRETW
70	80	90	100	110	120
FFGLQYTIKD	TVAWLKMDKK	VLDHDVSKEE	PVTFHFLAKF	YPENAEEELV	QEITQHLFFL
130	140	150	160	170	180
QVKKQILDEK	IYCPPEASVL	LASYAVQAKY	GDYDPSVHKR	GFLAQEELLP	KRVINLYQMT
190	200	210	220	230	240
PEMWEERITA	WYAEHRGRAR	DEAEMEYLKI	AQDLEMYGVN	YFAIRNKKGT	ELLLGVDALG
250	260	270	280	290	300
LHIYDPENRL	TPKISFPWNE	IRNISYSDKE	FTIKPLDKKI	DVFKFNSSKL	RVNKLILQLC
310	320	330	340	350	360
IGNHDLFMRR	RKADSLEVQQ	MKAQAREEKA	RKQMERQRLA	REKQMREEAE	RTRDELERRL
370	380	390	400	410	420
LQMKEEATMA	NEALMRSEET	ADLLAEKAQI	TEEEAKLLAQ	KAAEAEQEMQ	RIKATAIRTE
430	440	450	460	470	480
EEKRLMEQKV	LEAEVLALKM	AEESERRAKE	ADQLKQDLQE	AREAERRAKQ	KLLEIATKPT
490	500	510	520	530	540
YPPMNPIPAP	LPPDIPSFNL	IGDSLSFDFK	DTDMKRLSME	IEKEKVEYME	KSKHLQEQLN
550	560	570	580	590
ELKTEIEALK	LKERETALDI	LHNENSDRGG	SSKHNTIKKL	TLQSAKSRVA	FFEEL