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: 58
Download table as spreadsheet
HGVS dbSNP
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
NC_000022.11:g.29600322_29604002del
NM_000268.3(NF2):c.-443-?_*3798+?del
NM_000268.4(NF2):c.1003G>T (p.Glu335Ter) rs1601643866
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.10del (p.Ala4fs)
NM_000268.4(NF2):c.1162del (p.Ala388fs)
NM_000268.4(NF2):c.1210G>T (p.Glu404Ter)
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.4(NF2):c.1332_1333AG[1] (p.Glu445fs) rs1601649018
NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.1413_1428del (p.Leu472fs)
NM_000268.4(NF2):c.1575-2A>G
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter) rs878853925
NM_000268.4(NF2):c.1646T>A (p.Leu549Ter) rs1601666156
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.1737+2T>C
NM_000268.4(NF2):c.193C>T (p.Gln65Ter)
NM_000268.4(NF2):c.240+1G>A
NM_000268.4(NF2):c.240+1G>C
NM_000268.4(NF2):c.251dup (p.His84fs)
NM_000268.4(NF2):c.273del (p.Val92fs) rs1555987647
NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer)
NM_000268.4(NF2):c.322del (p.Glu108fs)
NM_000268.4(NF2):c.431dup (p.Tyr144Ter)
NM_000268.4(NF2):c.432C>G (p.Tyr144Ter) rs1060503667
NM_000268.4(NF2):c.447+1del
NM_000268.4(NF2):c.531T>A (p.Tyr177Ter)
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)
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
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.679A>T (p.Lys227Ter)
NM_000268.4(NF2):c.69dup (p.Val24fs) rs1601515970
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.970del (p.Gln324fs) rs1555998851
NM_016418.5(NF2):c.1737+1G>T rs1556003799
NM_016418.5(NF2):c.516+1G>A rs1601612044
NM_016418.5(NF2):c.517-1G>A rs1064796632
NM_016418.5(NF2):c.517-2A>G rs1060503670
NM_016418.5(NF2):c.517-92_568del rs1601613230
NM_016418.5(NF2):c.676-2A>G rs1060503666
NM_016418.5(NF2):c.999+1G>A rs1569302393

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.