NF2 (Merlin) variants and mutations
NF2 (also known as Merlin) is a human protein-coding gene encoding a merlin protein. Its merlin product links membrane and cytoskeletal signaling to contact-dependent growth control. Germline loss-of-function variants cause NF2-related schwannomatosis with vestibular schwannomas, meningiomas, and other nervous-system tumors. This analysis covers 1,898 NF2 variants and mutations. Of these, 36% have computational variant effect predictions. Disease context includes NF2-related schwannomatosis, schwannomatosis, and SMARCB1-related schwannomatosis. Example NF2 variants include M1T, M1V, and A2S.
Variant analysis overview
- Gene: NF2
- Protein: Merlin
- UniProt accession: P35240
- Organism: Homo sapiens
- Variants analyzed: 1898
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,760 unspecified-consequence records; 52 missense variants; 77 synonymous variants; 5 stop-gained variants; 1 in-frame deletions; 2 splice-region variants; 1 substitution
- Prediction scores: 675 variants have prediction scores (36% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: NF2-related schwannomatosis, schwannomatosis, SMARCB1-related schwannomatosis, familial meningioma, acoustic neuroma, pleural mesothelioma, hereditary neoplastic syndrome, Inherited cancer-predisposing syndrome, neurofibromatosis, meningioma, schwannoma, renal cell carcinoma.
Protein structure and variant hotspots
- Protein features: 1 domains; 2 post-translational modification sites.
- Structural context: 1,149 variants have structural context.
- PTM context: 2 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable NF2 variants
Examples include M1T, M1V, A2S, A2T, A2D, A2V, A2A, G3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs1555978325, ClinGen CA411145667, ClinVar RCV000599193, ClinVar RCV006463513, Likely benign, Neurofibromatosis, type 2
- M1V (p.Met1Val), rs1319282473, ClinGen CA411145658, ClinVar RCV001229737, ClinVar RCV001751446, Conflicting interpretations, Neurofibromatosis, type 2; not provided
- A2S (p.Ala2Ser), rs1601515682, ClinGen CA411145682, ClinVar RCV000791157, ClinVar RCV000791158, REVEL 0.43, CADD 27.20, Uncertain significance, SMARCB1-related schwannomatosis; Neurofibromatosis, type 2; Familial meningioma
- A2T (p.Ala2Thr), gnomAD 22-29604002-G-A, REVEL 0.45, CADD 29.30
- A2D (p.Ala2Asp), gnomAD 22-29604003-C-A, REVEL 0.44, CADD 27.40
- A2V (p.Ala2Val), gnomAD 22-29604003-C-T, REVEL 0.49, CADD 28.10
- A2A (p.Ala2Ala), rs2064712585, gnomAD 22-29604004-C-T, CADD 12.10
- G3E (p.Gly3Glu), gnomAD rs1333560181, REVEL 0.48, CADD 24.70, Uncertain significance, Hereditary cancer-predisposing syndrome
- G3R (p.Gly3Arg), Ensembl rs2146659491, REVEL 0.53, CADD 25.50, Uncertain significance, Familial meningioma; Neurofibromatosis, type 2
- G3V (p.Gly3Val), gnomAD 22-29604006-G-T, REVEL 0.53, CADD 24.90
- G3G (p.Gly3Gly), rs1280487219, gnomAD 22-29604007-G-A, CADD 14.40
- A4S (p.Ala4Ser), rs2146659577, ClinGen CA411145719, ClinVar RCV001909560, ClinVar RCV002425232, REVEL 0.42, CADD 23.10, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- A4D (p.Ala4Asp), gnomAD 22-29604009-C-A, REVEL 0.50, CADD 24.10
- A4V (p.Ala4Val), gnomAD 22-29604009-C-T, REVEL 0.41, CADD 23.00
- A4A (p.Ala4Ala), rs144477078, gnomAD 22-29604010-C-T, CADD 16.20
- I5L (p.Ile5Leu), gnomAD rs1256317044
- I5M (p.Ile5Met), rs998779035, ClinGen CA323099675, ClinVar RCV000797514, ClinVar RCV002397595, REVEL 0.28, CADD 23.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- I5V (p.Ile5Val), gnomAD rs1256317044, REVEL 0.21, CADD 22.00, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- I5I (p.Ile5Ile), gnomAD 22-29604013-C-T, CADD 15.30
- A6D (p.Ala6Asp), rs2064713500, ClinGen CA411145761, ClinVar RCV001222566, Ensembl rs2064713500, REVEL 0.49, CADD 24.50, Uncertain significance, Neurofibromatosis, type 2
- A6P (p.Ala6Pro), rs1601515753, ClinGen CA411145753, ClinVar RCV001012795, Ensembl rs1601515753, Uncertain significance, Hereditary cancer-predisposing syndrome
- A6V (p.Ala6Val), NCI-TCGA Cosmic COSV5852, cosmic curated COSV58529, REVEL 0.49, CADD 24.40, Uncertain significance, Hereditary cancer-predisposing syndrome
- A6S (p.Ala6Ser), gnomAD 22-29604014-G-T, REVEL 0.41, CADD 23.20
- S7F (p.Ser7Phe), rs2146659687, ClinGen CA411145783, ClinVar RCV002255254, NCI-TCGA TCGA novel, REVEL 0.56, CADD 24.70, Uncertain significance, Hereditary cancer-predisposing syndrome
- S7Y (p.Ser7Tyr), NCI-TCGA TCGA novel, REVEL 0.54, CADD 24.40, Variant assessed as somatic; moderate impact.
- S7S (p.Ser7Ser), rs1208509021, gnomAD 22-29604019-C-T, CADD 14.80
- R8C (p.Arg8Cys), rs868416935, ClinGen CA411145791, ClinVar RCV001339071, TOPMed rs868416935, Uncertain significance, Neurofibromatosis, type 2
- R8H (p.Arg8His), rs775564806, ClinGen CA411145795, cosmic curated COSV10523, ClinVar RCV002450249, REVEL 0.41, CADD 26.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- R8L (p.Arg8Leu), rs775564806, ClinGen CA411145799, cosmic curated COSV10009, ClinVar RCV001976132, REVEL 0.55, CADD 23.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- R8P (p.Arg8Pro), rs775564806, ClinGen CA033605, ClinVar RCV001955970, ExAC rs775564806, Uncertain significance, Neurofibromatosis, type 2
- R8S (p.Arg8Ser), rs868416935, ClinGen CA323099679, cosmic curated COSV10009, ClinVar RCV002457548, REVEL 0.52, CADD 24.30, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- R8R (p.Arg8Arg), rs749452887, gnomAD 22-29604022-C-A, CADD 14.80
- M9T (p.Met9Thr), rs1729649719, ClinGen CA411145821, cosmic curated COSV58520, ClinVar RCV003607137, REVEL 0.71, CADD 28.10, Uncertain significance, Neurofibromatosis, type 2
- M9V (p.Met9Val), rs1249717688, ClinGen CA411145809, ClinVar RCV001016063, ClinVar RCV001873273, REVEL 0.66, CADD 26.60, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- M9R (p.Met9Arg), gnomAD 22-29604024-T-G, REVEL 0.74, CADD 31.00
- M9I (p.Met9Ile), gnomAD 22-29604025-G-C, REVEL 0.55, CADD 25.50
- S10I (p.Ser10Ile), gnomAD 22-29604027-G-T, REVEL 0.45, CADD 24.90
- S10S (p.Ser10Ser), gnomAD 22-29604028-C-T, CADD 15.40
- S10R (p.Ser10Arg), gnomAD 22-29604028-C-A, REVEL 0.36, CADD 23.20
- F11C (p.Phe11Cys), rs2064714417, ClinGen CA411145860, ClinVar RCV001337461, ClinVar RCV003294321, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- F11L (p.Phe11Leu), gnomAD 22-29604031-C-A, REVEL 0.31, CADD 22.90
- S12G (p.Ser12Gly), gnomAD 22-29604032-A-G, REVEL 0.26, CADD 23.20
- S12R (p.Ser12Arg), gnomAD 22-29604032-A-C, REVEL 0.26, CADD 22.50
- S12I (p.Ser12Ile), gnomAD 22-29604033-G-T, REVEL 0.27, CADD 23.30
- S12S (p.Ser12Ser), rs371800843, gnomAD 22-29604034-C-T, CADD 15.70
- S13Y (p.Ser13Tyr), gnomAD 22-29604036-C-A, REVEL 0.46, CADD 27.00
- L14F (p.Leu14Phe), gnomAD 22-29604038-C-T, REVEL 0.36, CADD 23.10
- L14V (p.Leu14Val), gnomAD 22-29604038-C-G, REVEL 0.38, CADD 23.90
- L14I (p.Leu14Ile), gnomAD 22-29604038-C-A, REVEL 0.36, CADD 24.20
- L14L (p.Leu14Leu), gnomAD 22-29604040-C-A, CADD 11.30
- K15* (p.Lys15Ter), rs1555978356, ClinGen CA411145908, ClinVar RCV000582954, Ensembl rs1555978356, Pathogenic
- K15E (p.Lys15Glu), gnomAD 22-29604041-A-G, REVEL 0.55, CADD 23.80
- K15R (p.Lys15Arg), gnomAD 22-29604042-A-G, REVEL 0.23, CADD 22.30
- K15K (p.Lys15Lys), gnomAD 22-29604043-G-A, CADD 14.60
- R16S (p.Arg16Ser), ExAC rs774973059, TOPMed rs774973059, gnomAD rs774973059, REVEL 0.59, CADD 23.40, Likely benign
- R16R (p.Arg16Arg), rs774973059, gnomAD 22-29604046-G-A, CADD 15.10
- K17Q (p.Lys17Gln), rs1006592023, ClinGen CA323099706, ClinVar RCV001963891, ClinVar RCV002334985, REVEL 0.53, CADD 26.30, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- K17R (p.Lys17Arg), rs2064714998, ClinGen CA411145941, ClinVar RCV001365277, ClinVar RCV002341773, REVEL 0.41, CADD 23.60, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- Q18E (p.Gln18Glu), gnomAD 22-29604050-C-G, REVEL 0.43, CADD 22.40
- Q18* (p.Gln18Ter), gnomAD 22-29604050-C-T, CADD 38.00
- Q18K (p.Gln18Lys), gnomAD 22-29604050-C-A, REVEL 0.35, CADD 22.40
- P19R (p.Pro19Arg), rs1601515928, ClinGen CA411145987, cosmic curated COSV58519, ClinVar RCV001024424, REVEL 0.46, CADD 22.90, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- P19S (p.Pro19Ser), rs1477242482, ClinGen CA411145980, ClinVar RCV002005538, ClinVar RCV002344167, Uncertain significance, not provided; Familial meningioma; Hereditary cancer-predisposing syndrome
- P19H (p.Pro19His), gnomAD 22-29604054-C-A, REVEL 0.45, CADD 23.20
- P19P (p.Pro19Pro), gnomAD 22-29604055-C-A, CADD 14.20
- K20* (p.Lys20Ter), rs2064715459, ClinGen CA411145998, cosmic curated COSV58522, ClinVar RCV001208229, Pathogenic
- K20Q (p.Lys20Gln), rs2064715459, ClinGen CA411145993, ClinVar RCV001040486, Ensembl rs2064715459, Uncertain significance, Neurofibromatosis, type 2
- K20R (p.Lys20Arg), TOPMed rs2064715710
- K20K (p.Lys20Lys), gnomAD 22-29604058-G-A, CADD 15.50
- T21M (p.Thr21Met), gnomAD rs1316115546, REVEL 0.53, CADD 23.30
- T21S (p.Thr21Ser), gnomAD 22-29604059-A-T, REVEL 0.25, CADD 22.50
- T21K (p.Thr21Lys), gnomAD 22-29604060-C-A, REVEL 0.53, CADD 23.00
- T21T (p.Thr21Thr), gnomAD 22-29604061-G-A, CADD 14.60
- F22S (p.Phe22Ser), Ensembl rs2146660240
- T23P (p.Thr23Pro), rs2064715937, ClinGen CA411146054, cosmic curated COSV10740, ClinVar RCV001338495, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- T23N (p.Thr23Asn), gnomAD 22-29604066-C-A, REVEL 0.16, CADD 18.90
- T23I (p.Thr23Ile), gnomAD 22-29604066-C-T, REVEL 0.19, CADD 22.80
- T23T (p.Thr23Thr), rs2064716137, gnomAD 22-29604067-C-A, CADD 13.70
- V24* (p.Val24Ter), NCI-TCGA Cosmic COSV5851, Variant assessed as somatic; high impact.
- V24A (p.Val24Ala), rs773714780, ClinGen CA036034, ClinVar RCV001026153, ClinVar RCV001862356, REVEL 0.62, CADD 29.20, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- V24M (p.Val24Met), Ensembl rs2146660333, REVEL 0.67, CADD 31.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- V24L (p.Val24Leu), gnomAD 22-29604068-G-T, REVEL 0.65, CADD 25.30
- V24V (p.Val24Val), rs761062232, gnomAD 22-29604070-G-C, CADD 13.90
- R25G (p.Arg25Gly), rs2064716522, ClinGen CA411146088, ClinVar RCV001367085, TOPMed rs2064716522, REVEL 0.70, CADD 24.10, Uncertain significance, Neurofibromatosis, type 2
- R25K (p.Arg25Lys), rs1569259813, ClinGen CA411146095, ClinVar RCV000703501, ClinVar RCV001026507, REVEL 0.33, CADD 21.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma; Neurofibromatosis
- R25W (p.Arg25Trp), rs2064716522, ClinGen CA411146091, ClinVar RCV001041379, TOPMed rs2064716522, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- R25M (p.Arg25Met), gnomAD 22-29604072-G-T, REVEL 0.67, CADD 27.60
- R25R (p.Arg25Arg), gnomAD 22-29604073-G-A, CADD 15.70
- I26M (p.Ile26Met), rs2064716954, ClinGen CA411146124, ClinVar RCV001055704, Ensembl rs2064716954, Uncertain significance, Neurofibromatosis, type 2
- I26T (p.Ile26Thr), rs1064795612, ClinGen CA16621093, ClinVar RCV000480221, ClinVar RCV002526623, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Neurofibromatosis, type 2
- I26V (p.Ile26Val), rs2064716753, ClinGen CA411146114, ClinVar RCV002258524, ClinVar RCV004005559, REVEL 0.15, CADD 21.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- I26I (p.Ile26Ile), rs2064716954, gnomAD 22-29604076-C-T, CADD 15.30
- V27F (p.Val27Phe), rs965231734, ClinGen CA323099729, ClinVar RCV003501827, ClinVar RCV006411868, REVEL 0.55, CADD 20.80, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- V27I (p.Val27Ile), rs965231734, ClinGen CA411146127, ClinVar RCV004015652, TOPMed rs965231734, REVEL 0.20, CADD 17.90, Uncertain significance, Neurofibromatosis, type 2
- V27L (p.Val27Leu), TOPMed rs965231734, gnomAD rs965231734, Uncertain significance
- T28T (p.Thr28Thr), gnomAD 22-29604082-C-A, CADD 11.30
- M29L (p.Met29Leu), Ensembl rs2064717331, Uncertain significance, Hereditary cancer-predisposing syndrome
- M29V (p.Met29Val), rs2064717331, ClinGen CA411146162, ClinVar RCV001052677, ClinVar RCV004031653, REVEL 0.55, CADD 22.70, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- M29T (p.Met29Thr), gnomAD 22-29604084-T-C, REVEL 0.74, CADD 24.50
- D30G (p.Asp30Gly), rs563168478, ClinGen CA037062, ClinVar RCV001370531, ClinVar RCV005372684, REVEL 0.66, CADD 26.50, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- D30H (p.Asp30His), Ensembl rs1601516058, Uncertain significance
- D30N (p.Asp30Asn), rs1601516058, ClinGen CA411146184, ClinVar RCV001018483, ClinVar RCV004773224, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- D30D (p.Asp30Asp), gnomAD 22-29604088-C-T, CADD 14.90
- A31T (p.Ala31Thr), Ensembl rs2064717672, REVEL 0.51, CADD 26.20
- A31D (p.Ala31Asp), gnomAD 22-29604090-C-A, REVEL 0.70, CADD 27.80
- A31V (p.Ala31Val), gnomAD 22-29604090-C-T, REVEL 0.66, CADD 27.40
- A31A (p.Ala31Ala), rs1601516078, gnomAD 22-29604091-C-A, CADD 14.90
- E32A (p.Glu32Ala), rs2146660903, ClinGen CA411146239, ClinVar RCV001901032, Ensembl rs2146660903, Uncertain significance, Neurofibromatosis, type 2
- E32K (p.Glu32Lys), rs373337083, ClinGen CA323099731, cosmic curated COSV99052, ClinVar RCV001019416, REVEL 0.59, CADD 32.00, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- E32* (p.Glu32Ter), gnomAD 22-29604092-G-T, CADD 40.00
- E32D (p.Glu32Asp), gnomAD 22-29604094-G-C, REVEL 0.30, CADD 23.50
- M33V (p.Met33Val), rs2064718134, ClinGen CA411146252, ClinVar RCV003608343, Ensembl rs2064718134, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- M33L (p.Met33Leu), gnomAD 22-29604095-A-C, REVEL 0.29, CADD 22.10
- M33I (p.Met33Ile), gnomAD 22-29604097-G-A, REVEL 0.32, CADD 26.40
- E34Q (p.Glu34Gln), rs753425376, ClinGen CA029336, ClinVar RCV001365016, ClinVar RCV002438846, REVEL 0.56, CADD 26.10, Conflicting interpretations, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- E34* (p.Glu34Ter), gnomAD 22-29604098-G-T, CADD 43.00
- E34D (p.Glu34Asp), gnomAD 22-29604100-G-T, REVEL 0.33, CADD 24.10
- F35C (p.Phe35Cys), rs1601516107, ClinGen CA411146291, ClinVar RCV003608082, ClinVar RCV005455848, REVEL 0.82, CADD 32.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- F35L (p.Phe35Leu), Ensembl rs976153071, REVEL 0.58, CADD 24.50, Uncertain significance, Neurofibromatosis, type 2
- F35F (p.Phe35Phe), rs976153071, gnomAD 22-29604103-C-T, CADD 15.80
- N36D (p.Asn36Asp), rs1332525934, ClinGen CA411146297, ClinVar RCV002410947, ClinVar RCV003447628, REVEL 0.23, CADD 23.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- N36I (p.Asn36Ile), rs372279458, ClinGen CA411146303, ClinVar RCV001009871, ClinVar RCV006464978, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- N36K (p.Asn36Lys), TOPMed rs1183208160
- N36S (p.Asn36Ser), rs372279458, ClinGen CA021291, cosmic curated COSV58522, ClinVar RCV000121642, REVEL 0.16, CADD 19.10, Conflicting interpretations, NF2-related disorder; Familial meningioma; Neurofibromatosis, type 2
- C37F (p.Cys37Phe), gnomAD 22-29604108-G-T, REVEL 0.56, CADD 32.00
- C37C (p.Cys37Cys), rs1302428933, gnomAD 22-29604109-C-T, CADD 17.50
- C37* (p.Cys37Ter), gnomAD 22-29604109-C-A, CADD 37.00
- E38K (p.Glu38Lys), gnomAD 22-29604110-G-A, REVEL 0.65, CADD 27.30
- E38* (p.Glu38Ter), gnomAD 22-29604110-G-T, CADD 44.00
- M39I (p.Met39Ile), Ensembl rs2146851495, cosmic curated COSV58519, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- M39K (p.Met39Lys), Ensembl rs2146851457
- M39L (p.Met39Leu), ExAC rs761188569, Uncertain significance
- M39R (p.Met39Arg), Ensembl rs2146851457
- M39T (p.Met39Thr), Ensembl rs2146851457, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- M39V (p.Met39Val), rs761188569, ClinGen CA031138, ClinVar RCV001241361, ClinVar RCV002375276, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- K40* (p.Lys40Ter), rs2146851519, ClinGen CA411152414, ClinVar RCV003608427, Ensembl rs2146851519, Pathogenic
- K40E (p.Lys40Glu), Ensembl rs2146851519, Pathogenic
- K40M (p.Lys40Met), Ensembl rs2146851539
- K40N (p.Lys40Asn), gnomAD rs1245544443, Likely benign
- K40R (p.Lys40Arg), cosmic curated COSV58520, Ensembl rs2146851539, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- K40K (p.Lys40Lys), rs1245544443, gnomAD 22-29636756-G-A, CADD 8.59
- W41* (p.Trp41Ter), rs1555986860, ClinGen CA411152423, cosmic curated COSV58522, ClinVar RCV000523383, Pathogenic
- W41C (p.Trp41Cys), Ensembl rs2146851659, Uncertain significance, Hereditary cancer-predisposing syndrome
- W41L (p.Trp41Leu), Ensembl rs1555986860, Pathogenic
- W41S (p.Trp41Ser), Ensembl rs1555986860, Pathogenic
- W41R (p.Trp41Arg), gnomAD 22-29636757-T-C, REVEL 0.57, CADD 25.20
- K42I (p.Lys42Ile), Ensembl rs2146851684
- K42N (p.Lys42Asn), Ensembl rs1601578848, Likely benign
- K42R (p.Lys42Arg), Ensembl rs2146851684
- K42K (p.Lys42Lys), rs1601578848, gnomAD 22-29636762-A-G, CADD 10.50
- G43A (p.Gly43Ala), Ensembl rs2146851797
- G43E (p.Gly43Glu), cosmic curated COSV58524, Ensembl rs2146851797
- G43R (p.Gly43Arg), Ensembl rs2146851753
- G43V (p.Gly43Val), cosmic curated COSV10464, Ensembl rs2146851797
- G43W (p.Gly43Trp), cosmic curated COSV10740, Ensembl rs2146851753
- K44* (p.Lys44Ter), cosmic curated COSV58519, Ensembl rs2146851850, Uncertain significance
- K44E (p.Lys44Glu), rs2146851850, ClinGen CA411152444, ClinVar RCV001913460, Ensembl rs2146851850, Uncertain significance, Neurofibromatosis, type 2
- K44N (p.Lys44Asn), Ensembl rs1224221346, Uncertain significance, Hereditary cancer-predisposing syndrome
- K44K (p.Lys44Lys), rs1224221346, gnomAD 22-29636768-G-A, CADD 11.00
- D45A (p.Asp45Ala), Ensembl rs2146851936, Uncertain significance, Hereditary cancer-predisposing syndrome
- D45G (p.Asp45Gly), rs2146851936, ClinGen CA411152454, ClinVar RCV002387907, Ensembl rs2146851936, REVEL 0.90, CADD 33.00, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- D45H (p.Asp45His), ESP rs370147621, ExAC rs370147621, TOPMed rs370147621, gnomAD rs370147621, Uncertain significance, Hereditary cancer-predisposing syndrome
- D45N (p.Asp45Asn), rs370147621, ClinGen CA411152451, cosmic curated COSV58533, ClinVar RCV001315989, REVEL 0.45, CADD 29.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- D45V (p.Asp45Val), Ensembl rs2146851936, Uncertain significance, Hereditary cancer-predisposing syndrome
- D45Y (p.Asp45Tyr), rs370147621, ClinGen CA031129, ClinVar RCV002387688, ClinVar RCV004572404, REVEL 0.65, CADD 25.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- D45D (p.Asp45Asp), rs752664255, gnomAD 22-29636771-C-T, CADD 11.40
- L46F (p.Leu46Phe), cosmic curated COSV10464, Ensembl rs2146851994
- L46H (p.Leu46His), Ensembl rs2146852020, REVEL 0.96, CADD 27.90
- L46I (p.Leu46Ile), Ensembl rs2146851994
- L46P (p.Leu46Pro), Ensembl rs2146852020
- L46R (p.Leu46Arg), UniProt VAR 000809, Uncertain significance, in vestibular schwannoma
- L46V (p.Leu46Val), Ensembl rs2146851994
- F47I (p.Phe47Ile), Ensembl rs2146852081
- F47L (p.Phe47Leu), Ensembl rs2146852133
- F47S (p.Phe47Ser), rs2146852097, ClinGen CA411152468, ClinVar RCV001899073, Ensembl rs2146852097, Uncertain significance, Neurofibromatosis, type 2
- F47Y (p.Phe47Tyr), Ensembl rs2146852097, Uncertain significance
- D48E (p.Asp48Glu), Ensembl rs1018147647, Likely benign
- D48G (p.Asp48Gly), Ensembl rs2146852191
- D48H (p.Asp48His), TOPMed rs1352608076, gnomAD rs1352608076, Uncertain significance
- D48N (p.Asp48Asn), rs1352608076, ClinGen CA411152472, ClinVar RCV001047860, ClinVar RCV002393236, REVEL 0.49, CADD 32.00, Uncertain significance, Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
Public NF2 analysis runs
- NF2 analysis run — NF2 (1,898 variants) — completed 2026-08-18