TSC2, TSC complex subunit 2, 7249
N. diseases: 410; N. variants: 317
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 16 | 2088294 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 9 | 1998 | 2016 | ||||||||
|
0.925 | 0.120 | 16 | 2076141 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 9 | 1998 | 2015 | ||||||||
|
0.925 | 0.120 | 16 | 2084965 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 4 | 2001 | 2013 | ||||||||
|
0.925 | 0.120 | 16 | 2081734 | stop gained | C/A;G;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 4 | 2001 | 2017 | |||||||
|
1.000 | 0.120 | 16 | 2058765 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2001 | 2001 | ||||||||
|
1.000 | 0.120 | 16 | 2079357 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2001 | 2001 | ||||||||
|
0.925 | 0.160 | 16 | 2086283 | frameshift variant | AAGGACTGCCA/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 16 | 2055518 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.120 | 16 | 2070531 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 16 | 2088293 | inframe insertion | CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 16 | 2085238 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 16 | 2055520 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 16 | 2087897 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 16 | 2054441 | splice donor variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 16 | 2062982 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 16 | 2086834 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 16 | 2064302 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 16 | 2062533 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 16 | 2079096 | missense variant | G/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 16 | 2084552 | missense variant | C/G;T | snv | 4.2E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.200 | 16 | 2070571 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 16 | 2064342 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.120 | 16 | 2071534 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 2083754 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 16 | 2080366 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |