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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.790 | 0.160 | 10 | 87933106 | frameshift variant | ACAAT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 10 | 87957914 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 10 | 87952211 | frameshift variant | C/- | del | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||
|
0.790 | 0.160 | 10 | 87864506 | frameshift variant | AA/-;AAA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 10 | 87960893 | splice acceptor variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 10 | 87952130 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.732 | 0.360 | 10 | 87960952 | stop gained | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.776 | 0.160 | 10 | 87952258 | stop gained | C/A;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 1975 | 2014 | |||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.720 | 1.000 | 8 | 1997 | 2015 | ||||||||
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0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1997 | 2013 | |||||||
|
0.776 | 0.160 | 10 | 87957955 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 1999 | 2017 | ||||||||
|
0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2007 | 2017 | ||||||||
|
0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||
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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 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
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 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.160 | 10 | 87952260 | splice donor variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.160 | 10 | 87925562 | splice region variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.160 | 10 | 87952264 | splice region variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.160 | 10 | 87931042 | splice acceptor variant | AGTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.160 | 10 | 87931094 | splice region variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.160 | 10 | 87933252 | splice donor variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.160 | 10 | 87952263 | splice region variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.240 | 10 | 87925558 | splice region variant | AGTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
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 | 1 | 2017 | 2017 |