ClinVar Miner

List of variants in gene NF2 reported as pathogenic

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Gene type:
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Total variants: 100
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HGVS dbSNP
GRCh38/hg38 22q12.2(chr22:29602475-29639153)x1
NC_000022.10:g.[30057723_30063344del;30063345_30067790del]
NC_000022.11:g.(29668447_29671826)_(29681601_?)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
NC_000022.11:g.29600322_29604002del
NM_000268.3(NF2):c.-443-?_*3798+?del
NM_000268.3(NF2):c.675+1G>C rs1555994854
NM_000268.3(NF2):c.810+1G>A rs794728682
NM_000268.4(NF2):c.1003G>T (p.Glu335Ter) rs1601643866
NM_000268.4(NF2):c.1006dup (p.Arg336fs) rs1601643896
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.1056del (p.Arg353fs) rs1601644130
NM_000268.4(NF2):c.1060del (p.Asp354fs) rs1601644146
NM_000268.4(NF2):c.1079T>C (p.Leu360Pro) rs74315492
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.1219C>T (p.Gln407Ter) rs74315501
NM_000268.4(NF2):c.1228C>T (p.Gln410Ter) rs1556000842
NM_000268.4(NF2):c.1229del (p.Gln410fs) rs1601648452
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.4(NF2):c.125_126insG (p.Gly43fs) rs587776564
NM_000268.4(NF2):c.1332_1333AG[1] (p.Glu445fs) rs1601649018
NM_000268.4(NF2):c.1340+2T>G rs1601649049
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)
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.1575-2A>G
NM_000268.4(NF2):c.1579G>T (p.Glu527Ter) rs74315505
NM_000268.4(NF2):c.1604T>C (p.Leu535Pro) rs74315493
NM_000268.4(NF2):c.1613A>C (p.Gln538Pro) rs74315494
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.179_185del (p.Trp60fs) rs1601579095
NM_000268.4(NF2):c.180G>A (p.Trp60Ter) rs780872661
NM_000268.4(NF2):c.185T>C (p.Phe62Ser) rs121434261
NM_000268.4(NF2):c.193C>T (p.Gln65Ter)
NM_000268.4(NF2):c.205_211del (p.Lys69fs) rs587776565
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.285_287CTT[1] (p.Phe96del) rs121434260
NM_000268.4(NF2):c.30del (p.Phe11fs) rs1601515836
NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer)
NM_000268.4(NF2):c.322del (p.Glu108fs)
NM_000268.4(NF2):c.37_38TC[2] (p.Leu14fs)
NM_000268.4(NF2):c.431dup (p.Tyr144Ter)
NM_000268.4(NF2):c.432C>G (p.Tyr144Ter) rs1060503667
NM_000268.4(NF2):c.43A>T (p.Lys15Ter) rs1555978356
NM_000268.4(NF2):c.447+1del
NM_000268.4(NF2):c.461_479dup (p.Gly161fs) rs1569293373
NM_000268.4(NF2):c.493C>T (p.Gln165Ter) rs1601611973
NM_000268.4(NF2):c.531T>A (p.Tyr177Ter)
NM_000268.4(NF2):c.544G>T (p.Glu182Ter) rs74315495
NM_000268.4(NF2):c.563_564del (p.Ile188fs) rs1555993313
NM_000268.4(NF2):c.583_589del (p.His195fs) rs1569294187
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.600-2A>G rs1601618501
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.738_756del (p.Glu247fs) rs1555996156
NM_000268.4(NF2):c.745_752del (p.Arg249fs) rs1601624078
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.810+2T>C rs1601624296
NM_000268.4(NF2):c.863C>G (p.Ser288Ter)
NM_000268.4(NF2):c.885+1G>A
NM_000268.4(NF2):c.933del (p.Ala313fs) rs1601636894
NM_000268.4(NF2):c.958C>T (p.Gln320Ter) rs74315497
NM_000268.4(NF2):c.970del (p.Gln324fs) rs1555998851
NM_000268.4(NF2):c.995del (p.Lys332fs) rs587776563
NM_016418.5(NF2):c.1447-2del rs1556002457
NM_016418.5(NF2):c.1737+1G>T rs1556003799
NM_016418.5(NF2):c.240+1G>T rs587776562
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

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