Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80359527
rs80359527
BRCA2
0.925 0.200 13 32340035 stop gained -/A delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 9 2001 2012
dbSNP: rs80359773
rs80359773
BRCA2
0.882 0.280 13 32398184 frameshift variant -/A delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 9 2002 2014
dbSNP: rs80359328
rs80359328
BRCA2
0.882 0.240 13 32336684 frameshift variant -/A delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 8 2002 2016
dbSNP: rs398122789
rs398122789
BRCA2
0.925 0.200 13 32339318 stop gained -/A delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 7 2007 2016
dbSNP: rs80359328
rs80359328
BRCA2
0.882 0.240 13 32336684 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2002 2014
dbSNP: rs80359328
rs80359328
BRCA2
0.882 0.240 13 32336684 frameshift variant -/A delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 2003 2016
dbSNP: rs80359335
rs80359335
BRCA2
0.925 0.200 13 32336936 frameshift variant -/A delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1998 2014
dbSNP: rs80359773
rs80359773
BRCA2
0.882 0.280 13 32398184 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1999 2016
dbSNP: rs80359527
rs80359527
BRCA2
0.925 0.200 13 32340035 stop gained -/A delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2001 2012
dbSNP: rs397507683
rs397507683
BRCA2
0.925 0.200 13 32338103 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2002 2016
dbSNP: rs397507826
rs397507826
BRCA2
0.925 0.200 13 32340432 frameshift variant -/A delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 4 2008 2014
dbSNP: rs80359335
rs80359335
BRCA2
0.925 0.200 13 32336936 frameshift variant -/A delins 7.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 4 2000 2014
dbSNP: rs80359527
rs80359527
BRCA2
0.925 0.200 13 32340035 stop gained -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2006 2019
dbSNP: rs1566249353
rs1566249353
BRCA2
1.000 0.200 13 32371055 frameshift variant -/A delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 3 2001 2018
dbSNP: rs397507683
rs397507683
BRCA2
0.925 0.200 13 32338103 frameshift variant -/A delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 3 2002 2018
dbSNP: rs397507826
rs397507826
BRCA2
0.925 0.200 13 32340432 frameshift variant -/A delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 3 2008 2014
dbSNP: rs397507833
rs397507833
BRCA2
1.000 13 32340556 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1999 2016
dbSNP: rs397507899
rs397507899
BRCA2
1.000 13 32355024 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2009 2013
dbSNP: rs398122789
rs398122789
BRCA2
0.925 0.200 13 32339318 stop gained -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2011 2015
dbSNP: rs80359438
rs80359438
BRCA2
0.925 0.200 13 32338630 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2004 2017
dbSNP: rs80359438
rs80359438
BRCA2
0.925 0.200 13 32338630 frameshift variant -/A delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 2 2004 2017
dbSNP: rs80359676
rs80359676
BRCA2
0.925 0.200 13 32357842 frameshift variant -/A delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 2 2011 2015
dbSNP: rs1566237861
rs1566237861
BRCA2
1.000 0.200 13 32346887 frameshift variant -/A delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs276174819
rs276174819
BRCA2
0.925 0.200 13 32336524 frameshift variant -/A delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs276174819
rs276174819
BRCA2
0.925 0.200 13 32336524 frameshift variant -/A delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016