PALB2, partner and localizer of BRCA2, 79728
N. diseases: 260; N. variants: 410
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.730 | 1.000 | 10 | 2010 | 2016 | ||||||
|
0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.720 | 1.000 | 5 | 2007 | 2013 | |||||||
|
0.882 | 0.080 | 16 | 23637886 | frameshift variant | ACAA/- | delins | 4.0E-05 | 3.5E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.720 | 1.000 | 3 | 2013 | 2019 | ||||||
|
0.925 | 0.080 | 16 | 23638074 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
0.882 | 0.200 | 16 | 23629897 | stop gained | G/A;T | snv | 2.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 3 | 2007 | 2019 | |||||||
|
0.882 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2010 | 2018 | |||||||
|
0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23641140 | synonymous variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 15 | 2007 | 2016 | |||||||
|
1.000 | 0.080 | 16 | 23607911 | frameshift variant | AG/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 8 | 2006 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23635787 | frameshift variant | -/A | delins | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 8 | 2012 | 2017 | |||||||
|
1.000 | 0.080 | 16 | 23603512 | frameshift variant | AG/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 8 | 2009 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23622982 | frameshift variant | -/A | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 7 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23603563 | frameshift variant | -/T | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 7 | 2009 | 2016 | ||||||||
|
0.925 | 0.200 | 16 | 23637865 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 6 | 2011 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 23603526 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 6 | 2007 | 2015 | ||||||
|
1.000 | 0.080 | 16 | 23603497 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23603476 | frameshift variant | -/AA | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23603477 | frameshift variant | AATA/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23607860 | splice region variant | T/C;G | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2016 | |||||||
|
1.000 | 0.080 | 16 | 23621427 | frameshift variant | A/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2012 | 2016 | ||||||||
|
0.851 | 0.280 | 16 | 23635788 | frameshift variant | AG/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2007 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23635229 | frameshift variant | C/- | delins | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2010 | 2016 | |||||||
|
1.000 | 0.080 | 16 | 23635505 | frameshift variant | CTTTT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2013 | 2014 | ||||||||
|
0.925 | 0.200 | 16 | 23623003 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 |