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: rs80359075
rs80359075
BRCA2
1.000 13 32370420 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 2002 2018
dbSNP: rs80359026
rs80359026
BRCA2
1.000 13 32362692 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2005 2017
dbSNP: rs80359083
rs80359083
BRCA2
13 32370448 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2008 2018
dbSNP: rs80358810
rs80358810
BRCA2
1.000 13 32326564 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1996 2017
dbSNP: rs80359575
rs80359575
BRCA2
1.000 13 32329445 frameshift variant GA/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1999 2017
dbSNP: rs81002853
rs81002853
BRCA2
1.000 13 32326240 splice acceptor variant A/C;G snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 2007 2016
dbSNP: rs80359012
rs80359012
BRCA2
1.000 13 32362585 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2002 2018
dbSNP: rs80359024
rs80359024
BRCA2
1.000 13 32362681 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2001 2018
dbSNP: rs80359064
rs80359064
BRCA2
1.000 13 32363379 missense variant A/G snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2002 2018
dbSNP: rs80359066
rs80359066
BRCA2
13 32363390 missense variant G/C;T snv 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2002 2019
dbSNP: rs397507849
rs397507849
BRCA2
1.000 13 32340747 frameshift variant ATTA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2002 2016
dbSNP: rs80359021
rs80359021
BRCA2
1.000 13 32362657 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2008 2013
dbSNP: rs80359421
rs80359421
BRCA2
1.000 13 32338392 frameshift variant CT/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1999 2014
dbSNP: rs81002802
rs81002802
BRCA2
1.000 13 32379914 splice donor variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2004 2015
dbSNP: rs81002813
rs81002813
BRCA2
1.000 13 32376796 splice region variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2009 2015
dbSNP: rs276174913
rs276174913
BRCA2
1.000 13 32379431 stop gained C/T snv 4.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 4 2008 2015
dbSNP: rs80359657
rs80359657
BRCA2
1.000 13 32356531 frameshift variant A/-;AA delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2003 2016
dbSNP: rs80359736
rs80359736
BRCA2
1.000 13 32379769 inframe deletion CATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2010 2015
dbSNP: rs81002873
rs81002873
BRCA2
1.000 13 32362694 splice donor variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2008 2017
dbSNP: rs276174860
rs276174860
BRCA2
1.000 13 32339993 frameshift variant AAAT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2002 2015
dbSNP: rs397507320
rs397507320
BRCA2
1.000 13 32325155 stop gained T/A snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 3 2008 2016
dbSNP: rs397507858
rs397507858
BRCA2
1.000 13 32340801 frameshift variant -/TA delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 3 2002 2014
dbSNP: rs397508047
rs397508047
BRCA2
1.000 13 32394763 stop gained G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2011 2016
dbSNP: rs80359080
rs80359080
BRCA2
1.000 13 32370433 stop gained G/A;C;T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 3 2008 2015
dbSNP: rs80359421
rs80359421
BRCA2
1.000 13 32338392 frameshift variant CT/- del
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 3 1999 2008