VHL, von Hippel-Lindau tumor suppressor, 7428
N. diseases: 372; N. variants: 215
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 | 0.160 | 3 | 10142023 | frameshift variant | GGCCCGTGCTGCGC/- | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 3 | 10142038 | missense variant | G/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 8 | 1998 | 2014 | ||||||||
|
0.925 | 0.160 | 3 | 10142071 | inframe deletion | TCT/- | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2002 | 2016 | ||||||||
|
0.925 | 0.160 | 3 | 10142073 | frameshift variant | TT/- | del |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10142080 | missense variant | A/C;G;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10142092 | missense variant | G/C;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 7 | 2000 | 2016 | ||||||||
|
0.925 | 0.160 | 3 | 10142103 | frameshift variant | C/-;CC | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10142104 | missense variant | C/G;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 10 | 1998 | 2016 | ||||||||
|
0.925 | 0.160 | 3 | 10142109 | missense variant | T/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 10 | 1995 | 2016 | ||||||||
|
0.925 | 0.160 | 3 | 10142111 | missense variant | G/C;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 1995 | 2011 | ||||||||
|
0.851 | 0.320 | 3 | 10142113 | missense variant | T/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 3 | 10142124 | missense variant | G/A;C;T | snv | 4.5E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1996 | 2007 | |||||||
|
0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 9 | 1995 | 2014 | |||||||
|
0.851 | 0.280 | 3 | 10142166 | missense variant | C/G;T | snv | 4.5E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 3 | 10142178 | missense variant | A/G;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 10 | 1995 | 2016 | ||||||||
|
0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 3 | 10142184 | stop gained | C/A;T | snv | 4.6E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 3 | 10142187 | missense variant | G/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 9 | 1994 | 2016 | ||||||||
|
0.925 | 0.160 | 3 | 10146526 | missense variant | T/C;G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.882 | 0.200 | 3 | 10146528 | missense variant | T/C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2005 | 2013 | ||||||||
|
0.925 | 0.160 | 3 | 10146530 | missense variant | C/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.925 | 0.160 | 3 | 10146535 | missense variant | A/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1994 | 2015 | ||||||||
|
0.925 | 0.160 | 3 | 10146543 | missense variant | A/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2003 | 2013 | ||||||||
|
0.925 | 0.160 | 3 | 10146543 | frameshift variant | AC/- | delins |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 10146549 | missense variant | G/A;C;T | snv | 2.0E-05 |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 3 | 2003 | 2012 |