BARD1, BRCA1 associated RING domain 1, 580
N. diseases: 75; N. variants: 176
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 214730416 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 214728968 | frameshift variant | CCCAC/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||||||
|
0.925 | 0.200 | 2 | 214730458 | stop gained | CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
0.882 | 0.080 | 2 | 214767532 | frameshift variant | -/TG | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2003 | 2006 | ||||||||
|
1.000 | 0.080 | 2 | 214752424 | splice donor variant | CCAAAGCTAAATCCATACTTACTAC/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214809411 | splice donor variant | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214781510 | splice acceptor variant | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.882 | 0.080 | 2 | 214767531 | missense variant | CA/AG;TG | mnv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2003 | 2006 | ||||||||
|
0.925 | 0.200 | 2 | 214797118 | splice acceptor variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214797099 | frameshift variant | TC/- | delins | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 2 | 214728724 | stop gained | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 2 | 214728911 | frameshift variant | C/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 2 | 214728931 | frameshift variant | -/T | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 2 | 214797092 | frameshift variant | A/- | del |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.080 | 2 | 214728935 | missense variant | A/G | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 2 | 214769302 | frameshift variant | G/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 214780940 | stop gained | T/A;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 214752490 | frameshift variant | AGCAGCAATAGCGATTTCATACTTTCATCATCTGT/CGC | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 214780763 | stop gained | T/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 214781258 | stop gained | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 214745136 | frameshift variant | -/A | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 214745728 | frameshift variant | GTCAAACTCAGTATATTTT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 214752460 | frameshift variant | -/TAGCTGAGGATGATTCATTCTTCTCTGGT | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 214767550 | frameshift variant | -/T | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 214767643 | stop gained | G/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 |