PTEN, phosphatase and tensin homolog, 5728
N. diseases: 1349; N. variants: 384
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 18 | 1998 | 2015 | ||||||||
|
0.790 | 0.160 | 10 | 87925550 | missense variant | T/A;C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 13 | 1998 | 2015 | ||||||||
|
0.776 | 0.160 | 10 | 87957955 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 10 | 1999 | 2017 | ||||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 9 | 1997 | 2015 | ||||||||
|
0.925 | 0.240 | 10 | 87933037 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 9 | 2005 | 2018 | ||||||||
|
0.790 | 0.160 | 10 | 87933154 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 9 | 2006 | 2017 | ||||||||
|
0.776 | 0.200 | 10 | 87957852 | splice acceptor variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 9 | 1998 | 2017 | ||||||||
|
0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 2000 | 2016 | ||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 1997 | 2014 | ||||||||
|
0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 1998 | 2015 | ||||||||
|
0.790 | 0.160 | 10 | 87933129 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 1997 | 2018 | ||||||||
|
0.925 | 0.240 | 10 | 87957973 | missense variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 2005 | 2018 | ||||||||
|
0.925 | 0.240 | 10 | 87957940 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 2005 | 2018 | ||||||||
|
0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 2000 | 2017 | ||||||||
|
0.925 | 0.080 | 10 | 87933166 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 1998 | 2014 | ||||||||
|
0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2000 | 2017 | ||||||||
|
0.790 | 0.160 | 10 | 87952135 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 1997 | 2011 | ||||||||
|
0.882 | 0.160 | 10 | 87961042 | frameshift variant | ACTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 1997 | 2015 | ||||||||
|
0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 1997 | 2017 | ||||||||
|
0.827 | 0.200 | 10 | 87933165 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2000 | 2014 | ||||||||
|
0.790 | 0.160 | 10 | 87931045 | splice acceptor variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 1998 | 2017 | ||||||||
|
0.776 | 0.280 | 10 | 87933079 | missense variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2013 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 87933246 | frameshift variant | AA/-;A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2002 | 2014 | ||||||||
|
1.000 | 0.080 | 10 | 87958019 | splice donor variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1998 | 2011 | ||||||||
|
0.790 | 0.160 | 10 | 87894049 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1998 | 2016 |