ClinVar Miner

List of variants in gene NF2 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 152
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000022.10:g.(?_29998545)_(30095589_?)del
NC_000022.10:g.(?_29999982)_(30090797_?)del
NC_000022.10:g.(?_29999988)_(30032875_?)del
NC_000022.10:g.(?_29999988)_(30090791_?)del
NC_000022.10:g.(?_30032730)_(30064445_?)del
NC_000022.10:g.(?_30032730)_(30090791_?)del
NC_000022.10:g.(?_30050636)_(30051675_?)del
NC_000022.10:g.(?_30051485)_30051628del
NC_000022.10:g.(?_30070815)_(30077600_?)del
NC_000022.10:g.(?_30077418)_(30090791_?)del
NC_000022.11:g.(?_29603989)_(29604122_?)del
NC_000022.11:g.(?_29603989)_(29636886_?)del
NC_000022.11:g.(?_29603989)_(29681611_?)del
NC_000022.11:g.(?_29603999)_(29604122_?)del
NC_000022.11:g.(?_29603999)_(29642295_?)del
NC_000022.11:g.(?_29636741)_(29639222_?)del
NC_000022.11:g.(?_29636741)_(29661349_?)del
NC_000022.11:g.(?_29642196)_(29642291_?)del
NC_000022.11:g.(?_29658157)_(29661364_?)del
NC_000022.11:g.(?_29668327)_(29678329_?)del
NC_000022.11:g.(?_29671816)_(29678333_?)del
NC_000022.11:g.(?_29673259)_(29673496_?)del
NM_000268.3(NF2):c.-443-?_*3798+?del
NM_000268.4(NF2):c.1003G>T (p.Glu335Ter) rs1601643866
NM_000268.4(NF2):c.1006dup (p.Arg336fs) rs1601643896
NM_000268.4(NF2):c.1015dup (p.Leu339fs)
NM_000268.4(NF2):c.1019_1022del (p.Ala340fs)
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.1022del (p.Arg341fs) rs2147071740
NM_000268.4(NF2):c.1026del (p.Lys343fs)
NM_000268.4(NF2):c.1051del (p.Arg351fs) rs2147072473
NM_000268.4(NF2):c.1074del (p.Arg359fs) rs2147073084
NM_000268.4(NF2):c.1084C>T (p.Gln362Ter)
NM_000268.4(NF2):c.1096_1097del (p.Glu366fs)
NM_000268.4(NF2):c.10del (p.Ala4fs) rs2064712705
NM_000268.4(NF2):c.111C>A (p.Cys37Ter)
NM_000268.4(NF2):c.1122+1G>A rs1569304774
NM_000268.4(NF2):c.1123-2A>G rs2147082167
NM_000268.4(NF2):c.112G>T (p.Glu38Ter)
NM_000268.4(NF2):c.1162del (p.Ala388fs) rs2066859618
NM_000268.4(NF2):c.1174G>T (p.Glu392Ter)
NM_000268.4(NF2):c.118A>T (p.Lys40Ter)
NM_000268.4(NF2):c.1198C>T (p.Gln400Ter) rs2147082728
NM_000268.4(NF2):c.1198del (p.Gln400fs)
NM_000268.4(NF2):c.1210G>T (p.Glu404Ter) rs2066861383
NM_000268.4(NF2):c.1219C>T (p.Gln407Ter) rs74315501
NM_000268.4(NF2):c.1229dup (p.Arg411fs)
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.4(NF2):c.1261G>T (p.Glu421Ter) rs2147083330
NM_000268.4(NF2):c.1264G>T (p.Glu422Ter) rs2066864084
NM_000268.4(NF2):c.1284del (p.Lys429fs)
NM_000268.4(NF2):c.1300G>T (p.Glu434Ter) rs992662337
NM_000268.4(NF2):c.1334_1337del (p.Glu445fs) rs1601649018
NM_000268.4(NF2):c.1340+1G>T rs2147084279
NM_000268.4(NF2):c.1340+2T>G rs1601649049
NM_000268.4(NF2):c.1341-1G>A rs2147091894
NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.4(NF2):c.1387G>T (p.Glu463Ter) rs74315503
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.1413_1428del (p.Leu472fs) rs2066915159
NM_000268.4(NF2):c.1447-1G>A rs2147107697
NM_000268.4(NF2):c.1490del (p.Ser497fs) rs2147108214
NM_000268.4(NF2):c.14_15insG (p.Ile5fs)
NM_000268.4(NF2):c.1514del (p.Leu505fs)
NM_000268.4(NF2):c.1521del (p.Phe507fs)
NM_000268.4(NF2):c.1564_1567del (p.Glu522fs)
NM_000268.4(NF2):c.1574+1G>A
NM_000268.4(NF2):c.1574+2T>A
NM_000268.4(NF2):c.1575-2A>G rs2067131272
NM_000268.4(NF2):c.1575-6C>A rs1350177470
NM_000268.4(NF2):c.1606C>T (p.Gln536Ter) rs2147122581
NM_000268.4(NF2):c.1612C>T (p.Gln538Ter) rs2147122623
NM_000268.4(NF2):c.1621G>T (p.Glu541Ter) rs2147122741
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter) rs878853925
NM_000268.4(NF2):c.1627_1628del (p.Lys543fs) rs2147122795
NM_000268.4(NF2):c.1646T>A (p.Leu549Ter) rs1601666156
NM_000268.4(NF2):c.1660_1661del (p.Arg554fs) rs1601666191
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.1737+1G>C
NM_000268.4(NF2):c.1737+1G>T rs1556003799
NM_000268.4(NF2):c.1737+2T>C rs1556003801
NM_000268.4(NF2):c.179G>A (p.Trp60Ter)
NM_000268.4(NF2):c.180G>A (p.Trp60Ter) rs780872661
NM_000268.4(NF2):c.193C>T (p.Gln65Ter) rs2065661533
NM_000268.4(NF2):c.229del (p.Met77fs) rs2146854677
NM_000268.4(NF2):c.240+1G>A rs587776562
NM_000268.4(NF2):c.240+1G>C rs587776562
NM_000268.4(NF2):c.240+1G>T rs587776562
NM_000268.4(NF2):c.240+2T>C rs2146854993
NM_000268.4(NF2):c.241-1G>A
NM_000268.4(NF2):c.241-2A>G rs2146869427
NM_000268.4(NF2):c.241_249delinsAG (p.Val81fs)
NM_000268.4(NF2):c.251dup (p.His84fs) rs2065728187
NM_000268.4(NF2):c.270del (p.Glu90fs)
NM_000268.4(NF2):c.273del (p.Val92fs) rs1555987647
NM_000268.4(NF2):c.290del (p.Leu97fs)
NM_000268.4(NF2):c.302_303del (p.Tyr101fs) rs2146871313
NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer) rs2065731800
NM_000268.4(NF2):c.320_321del (p.Glu107fs) rs2146871865
NM_000268.4(NF2):c.322del (p.Glu108fs) rs2065731921
NM_000268.4(NF2):c.361C>T (p.Gln121Ter)
NM_000268.4(NF2):c.363+1G>T rs1601583839
NM_000268.4(NF2):c.363+2T>C rs2146873271
NM_000268.4(NF2):c.375_376del (p.Gln125fs) rs2146892921
NM_000268.4(NF2):c.41_42del (p.Leu14fs) rs1418675250
NM_000268.4(NF2):c.431dup (p.Tyr144Ter) rs2065831369
NM_000268.4(NF2):c.432C>G (p.Tyr144Ter) rs1060503667
NM_000268.4(NF2):c.433_434del (p.Ala145fs)
NM_000268.4(NF2):c.439C>T (p.Gln147Ter) rs2146894926
NM_000268.4(NF2):c.447+1del rs2065832124
NM_000268.4(NF2):c.448-2A>G rs2146966211
NM_000268.4(NF2):c.452del (p.Gly151fs) rs2146966294
NM_000268.4(NF2):c.457dup (p.Tyr153fs) rs2146966417
NM_000268.4(NF2):c.481G>T (p.Gly161Ter) rs1303879665
NM_000268.4(NF2):c.483del (p.Leu163fs)
NM_000268.4(NF2):c.503T>A (p.Leu168Ter)
NM_000268.4(NF2):c.516+1G>A rs1601612044
NM_000268.4(NF2):c.516+2T>G rs1569293488
NM_000268.4(NF2):c.517-1G>A rs1064796632
NM_000268.4(NF2):c.517-2A>G rs1060503670
NM_000268.4(NF2):c.517-92_568del rs1601613230
NM_000268.4(NF2):c.531T>A (p.Tyr177Ter) rs780880330
NM_000268.4(NF2):c.563_564del (p.Ile188fs) rs1555993313
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.58A>T (p.Lys20Ter) rs2064715459
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.4(NF2):c.599+1G>A rs1555993352
NM_000268.4(NF2):c.599+1G>T rs1555993352
NM_000268.4(NF2):c.599+2T>G rs2146974102
NM_000268.4(NF2):c.627_628del (p.Lys209fs)
NM_000268.4(NF2):c.634C>T (p.Gln212Ter) rs2146989887
NM_000268.4(NF2):c.643G>T (p.Glu215Ter)
NM_000268.4(NF2):c.643del (p.Glu215fs)
NM_000268.4(NF2):c.648_649dup (p.Tyr217fs) rs2146990314
NM_000268.4(NF2):c.656_657insA (p.Asn220fs) rs1555994819
NM_000268.4(NF2):c.658A>T (p.Asn220Tyr) rs1601618646
NM_000268.4(NF2):c.676-1G>T
NM_000268.4(NF2):c.676-2A>G rs1060503666
NM_000268.4(NF2):c.679A>T (p.Lys227Ter) rs2066466759
NM_000268.4(NF2):c.69dup (p.Val24fs) rs1601515970
NM_000268.4(NF2):c.771del (p.Trp258fs)
NM_000268.4(NF2):c.774G>A (p.Trp258Ter) rs2147010427
NM_000268.4(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.4(NF2):c.798C>G (p.Tyr266Ter) rs917257652
NM_000268.4(NF2):c.805A>T (p.Lys269Ter)
NM_000268.4(NF2):c.810+1G>A rs794728682
NM_000268.4(NF2):c.892C>T (p.Gln298Ter) rs2147051643
NM_000268.4(NF2):c.934A>T (p.Lys312Ter) rs2147052253
NM_000268.4(NF2):c.970del (p.Gln324fs) rs1555998851
NM_000268.4(NF2):c.999+1G>A rs1569302393
NM_000268.4(NF2):c.999+2T>G rs2147053345
NM_000268.4(NF2):c.999+2_999+3del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.