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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 17 | 31259038 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 1997 | 2016 | ||||||||
|
1.000 | 0.120 | 17 | 31225134 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 2003 | 2014 | |||||||
|
1.000 | 0.120 | 17 | 31233092 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 2004 | 2017 | ||||||||
|
1.000 | 0.120 | 17 | 31260403 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 1997 | 2015 | ||||||||
|
1.000 | 0.120 | 17 | 31343098 | inframe deletion | AACTTT/- | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 1994 | 2015 | |||||||
|
1.000 | 0.120 | 17 | 31233030 | frameshift variant | AA/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2000 | 2011 | ||||||||
|
1.000 | 0.120 | 17 | 31248982 | splice acceptor variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 1997 | 2015 | |||||||
|
1.000 | 0.120 | 17 | 31206360 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2000 | 2013 | ||||||||
|
1.000 | 0.120 | 17 | 31163376 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2002 | 2015 | ||||||||
|
1.000 | 0.120 | 17 | 31200443 | stop gained | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 1998 | 2013 | |||||||
|
1.000 | 0.120 | 17 | 31227526 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2000 | 2014 | ||||||||
|
1.000 | 0.120 | 17 | 31200420 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 1999 | 2015 | ||||||||
|
1.000 | 0.120 | 17 | 31214524 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2001 | 2013 | ||||||
|
1.000 | 0.120 | 17 | 31227607 | splice donor variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2006 | 2015 | ||||||||
|
1.000 | 0.120 | 17 | 31229289 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2000 | 2011 | ||||||||
|
1.000 | 0.120 | 17 | 31227536 | missense variant | C/A;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2000 | 2016 | |||||||
|
1.000 | 0.120 | 17 | 31229145 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2000 | 2015 | ||||||||
|
1.000 | 0.120 | 17 | 31226460 | frameshift variant | C/-;CC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1995 | 2015 | ||||||||
|
1.000 | 0.120 | 17 | 31330830 | non coding transcript exon variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1996 | 2014 | ||||||||
|
1.000 | 0.120 | 17 | 31203089 | intron variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2000 | 2013 | ||||||||
|
1.000 | 0.120 | 17 | 31155981 | splice acceptor variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2008 | 2015 | ||||||||
|
1.000 | 0.120 | 17 | 31229466 | splice donor variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2007 | 2015 | ||||||||
|
1.000 | 0.120 | 17 | 31232841 | frameshift variant | CTCA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2003 | 2011 | ||||||||
|
1.000 | 0.120 | 17 | 31249093 | stop gained | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2000 | 2013 | |||||||
|
1.000 | 0.120 | 17 | 31227254 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2000 | 2011 |