NF1, neurofibromin 1, 4763
N. diseases: 380; N. variants: 935
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.360 | 17 | 31258500 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.800 | 1.000 | 34 | 1990 | 2016 | ||||||||
|
0.790 | 0.320 | 17 | 31229061 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.710 | 1.000 | 9 | 1997 | 2015 | ||||||||
|
0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 17 | 31338739 | stop gained | C/A;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.710 | 1.000 | 12 | 1995 | 2016 | |||||||
|
0.807 | 0.280 | 17 | 31334927 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.730 | 1.000 | 9 | 1990 | 2008 | ||||||||
|
0.827 | 0.280 | 17 | 31235729 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.800 | 1.000 | 37 | 1990 | 2016 | |||||||
|
0.827 | 0.280 | 17 | 31327839 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.710 | 1.000 | 13 | 2000 | 2014 | ||||||||
|
0.827 | 0.280 | 17 | 31357308 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 11 | 1995 | 2017 | ||||||||
|
0.827 | 0.280 | 17 | 31327719 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 8 | 2003 | 2015 | ||||||||
|
0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 7 | 2000 | 2017 | ||||||
|
0.827 | 0.280 | 17 | 31206297 | stop gained | C/T | snv | 8.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 6 | 1995 | 2013 | |||||||
|
0.827 | 0.280 | 17 | 31235773 | splice donor variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 3 | 2000 | 2013 | ||||||||
|
0.827 | 0.280 | 17 | 31232832 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2007 | 2016 | ||||||||
|
0.827 | 0.280 | 17 | 31335032 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2000 | 2013 | ||||||||
|
0.827 | 0.280 | 17 | 31227232 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.280 | 17 | 31340553 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 17 | 31260481 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 17 | 31330468 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 17 | 31335016 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 17 | 31352348 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.710 | 1.000 | 7 | 1994 | 2014 | ||||||||
|
0.851 | 0.240 | 17 | 31352411 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.200 | 17 | 31327535 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 11 | 1994 | 2013 | ||||||||
|
0.882 | 0.200 | 17 | 31261733 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.710 | 1.000 | 7 | 1997 | 2019 | ||||||
|
0.882 | 0.240 | 17 | 31221932 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 6 | 1994 | 2015 | ||||||||
|
0.882 | 0.120 | 17 | 31327718 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.710 | 1.000 | 6 | 2003 | 2015 |