NF2, neurofibromin 2, 4771

N. diseases: 312; N. variants: 54
Disease: Neurofibromatosis 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434261
rs121434261 		1.000 0.160 22 29636821 missense variant T/C snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.810 1.000 18 1993 2017
dbSNP: rs74315492
rs74315492 		1.000 0.160 22 29671905 missense variant T/C snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 17 1993 2017
dbSNP: rs74315493
rs74315493 		1.000 0.160 22 29681468 missense variant T/C snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 17 1993 2017
dbSNP: rs74315494
rs74315494 		1.000 0.160 22 29681477 missense variant A/C snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 17 1993 2017
dbSNP: rs764441073
rs764441073 		1.000 0.160 22 29671881 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 14 1993 2010
dbSNP: rs74315504
rs74315504 		1.000 0.160 22 29674891 stop gained C/G;T snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 7 1994 2015
dbSNP: rs1555993336
rs1555993336 		1.000 0.160 22 29655663 stop gained C/T snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 1995 2016
dbSNP: rs121434259
rs121434259 		0.925 0.160 22 29636805 stop gained C/T snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 1993 2018
dbSNP: rs1555993345
rs1555993345 		1.000 0.160 22 29655669 stop gained C/T snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 1995 2015
dbSNP: rs1555986860
rs1555986860 		1.000 0.160 22 29636758 stop gained G/A snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 1998 2016
dbSNP: rs1569304774
rs1569304774 		1.000 0.160 22 29671949 splice donor variant G/A snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 1996 2007
dbSNP: rs1555994854
rs1555994854 		1.000 0.160 22 29658265 splice donor variant G/A;C snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1998 2007
dbSNP: rs1569293488
rs1569293488 		1.000 0.160 22 29654727 splice donor variant T/G snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1998 2007
dbSNP: rs1569302393
rs1569302393 		1.000 0.160 22 29668447 splice donor variant G/A snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1998 2007
dbSNP: rs1060503666
rs1060503666 		1.000 0.160 22 29661203 splice acceptor variant A/G snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1060503667
rs1060503667 		1.000 0.160 22 29642270 stop gained C/G;T snv 8.0E-06
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1060503670
rs1060503670 		1.000 0.160 22 29655592 splice acceptor variant A/G snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121434260
rs121434260 		1.000 0.160 22 29639134 inframe deletion CTT/- delins
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555978356
rs1555978356 		1.000 0.160 22 29604041 stop gained A/T snv
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555978369
rs1555978369 		1.000 0.160 22 29604056 frameshift variant AAGA/GT delins
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555987647
rs1555987647 		1.000 0.160 22 29639122 frameshift variant A/- del
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555987732
rs1555987732 		1.000 0.160 22 29639201 inframe deletion CTT/- delins
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555992948
rs1555992948 		1.000 0.160 22 29654671 frameshift variant C/- delins
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555993301
rs1555993301 		1.000 0.160 22 29655633 frameshift variant GA/- delins
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555993313
rs1555993313 		1.000 0.160 22 29655640 frameshift variant TT/- del
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0