ClinVar Miner

List of variants in gene NF2 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP
GRCh38/hg38 22q12.2(chr22:29602475-29639153)x1
NC_000022.10:g.(?_29999978)_(30000111_?)del
NC_000022.10:g.(?_29999978)_(30077600_?)del
NC_000022.10:g.(?_30032730)_(30035211_?)del
NC_000022.10:g.(?_30032730)_(30057338_?)del
NC_000022.10:g.(?_30038185)_(30038280_?)del
NC_000022.10:g.(?_30064316)_(30074318_?)del
NC_000022.10:g.(?_30069248)_(30069485_?)del
NC_000022.10:g.[30057723_30063344del;30063345_30067790del]
NC_000022.11:g.(29668447_29671826)_(29681601_?)del
NM_000268.3(NF2):c.-443-?_*3798+?del
NM_000268.3(NF2):c.1003G>T (p.Glu335Ter)
NM_000268.3(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.3(NF2):c.1079T>C (p.Leu360Pro) rs74315492
NM_000268.3(NF2):c.1219C>T (p.Gln407Ter) rs74315501
NM_000268.3(NF2):c.1228C>T (p.Gln410Ter) rs1556000842
NM_000268.3(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.3(NF2):c.125_126insG (p.Gly43fs) rs587776564
NM_000268.3(NF2):c.1332_1333AG[1] (p.Glu445fs)
NM_000268.3(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.3(NF2):c.1387G>T (p.Glu463Ter) rs74315503
NM_000268.3(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.3(NF2):c.1447-2del rs1556002457
NM_000268.3(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.3(NF2):c.1579G>T (p.Glu527Ter) rs74315505
NM_000268.3(NF2):c.1604T>C (p.Leu535Pro) rs74315493
NM_000268.3(NF2):c.1613A>C (p.Gln538Pro) rs74315494
NM_000268.3(NF2):c.1627A>T (p.Lys543Ter) rs878853925
NM_000268.3(NF2):c.1646T>A (p.Leu549Ter)
NM_000268.3(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.3(NF2):c.1737+1G>T rs1556003799
NM_000268.3(NF2):c.1786T>C (p.Ter596Gln) rs1569319775
NM_000268.3(NF2):c.180G>A (p.Trp60Ter) rs780872661
NM_000268.3(NF2):c.185T>C (p.Phe62Ser) rs121434261
NM_000268.3(NF2):c.205_211del (p.Lys69fs) rs587776565
NM_000268.3(NF2):c.240+1G>T rs587776562
NM_000268.3(NF2):c.273del (p.Val92fs) rs1555987647
NM_000268.3(NF2):c.285_287CTT[1] (p.Phe96del) rs121434260
NM_000268.3(NF2):c.432C>G (p.Tyr144Ter) rs1060503667
NM_000268.3(NF2):c.43A>T (p.Lys15Ter) rs1555978356
NM_000268.3(NF2):c.461_479dup (p.Gly161fs) rs1569293373
NM_000268.3(NF2):c.516+1G>A
NM_000268.3(NF2):c.517-1G>A rs1064796632
NM_000268.3(NF2):c.517-2A>G rs1060503670
NM_000268.3(NF2):c.517-98_562del
NM_000268.3(NF2):c.544G>T (p.Glu182Ter) rs74315495
NM_000268.3(NF2):c.563_564del (p.Ile188fs) rs1555993313
NM_000268.3(NF2):c.583_589del (p.His195fs) rs1569294187
NM_000268.3(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.3(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.3(NF2):c.656_657insA (p.Asn220fs) rs1555994819
NM_000268.3(NF2):c.658A>T (p.Asn220Tyr)
NM_000268.3(NF2):c.675+1G>C rs1555994854
NM_000268.3(NF2):c.676-2A>G rs1060503666
NM_000268.3(NF2):c.69dup (p.Val24fs)
NM_000268.3(NF2):c.738_756del (p.Glu247fs) rs1555996156
NM_000268.3(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.3(NF2):c.798C>G (p.Tyr266Ter) rs917257652
NM_000268.3(NF2):c.810+1G>A rs794728682
NM_000268.3(NF2):c.958C>T (p.Gln320Ter) rs74315497
NM_000268.3(NF2):c.970del (p.Gln324fs) rs1555998851
NM_000268.3(NF2):c.995del (p.Lys332fs) rs587776563
NM_000268.3(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.