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: rs758732038
rs758732038
BRCA2
1.000 0.200 13 32316420 splice acceptor variant GA/- delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 3 2010 2018
dbSNP: rs1555280053
rs1555280053
BRCA2
1.000 13 32316420 splice acceptor variant A/G snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1060499566
rs1060499566
BRCA2
1.000 13 32316421 splice acceptor variant G/A snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1555280073
rs1555280073
BRCA2
13 32316454 start lost TAAAAATGCCTATTGG/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs761283611
rs761283611
BRCA2
1.000 0.200 13 32316457 start lost A/- delins 8.0E-06 7.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 3 2003 2014
dbSNP: rs863224464
rs863224464
BRCA2
0.925 0.200 13 32316461 start lost A/G snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs80358547
rs80358547
BRCA2
0.851 0.200 13 32316462 start lost T/A;C;G snv 8.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 8 2003 2018
dbSNP: rs80358547
rs80358547
BRCA2
0.851 0.200 13 32316462 start lost T/A;C;G snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2003 2014
dbSNP: rs80358547
rs80358547
BRCA2
0.851 0.200 13 32316462 start lost T/A;C;G snv 8.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 2 2003 2015
dbSNP: rs80358650
rs80358650
BRCA2
0.925 0.200 13 32316463 start lost G/A;T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 12 2003 2015
dbSNP: rs80358650
rs80358650
BRCA2
0.925 0.200 13 32316463 start lost G/A;T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 2008 2019
dbSNP: rs80358650
rs80358650
BRCA2
0.925 0.200 13 32316463 start lost G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2008 2015
dbSNP: rs80359418
rs80359418
BRCA2
1.000 13 32316463 frameshift variant G/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs80359418
rs80359418
BRCA2
1.000 13 32316463 frameshift variant G/- del
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs397507820
rs397507820
BRCA2
1.000 13 32316464 frameshift variant C/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1555280093
rs1555280093
BRCA2
13 32316466 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs397507571
rs397507571
BRCA2
1.000 13 32316470 stop gained G/T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1064795072
rs1064795072
BRCA2
1.000 13 32316474 frameshift variant C/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs80359298
rs80359298
BRCA2
1.000 13 32316476 frameshift variant AA/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs397507623
rs397507623
BRCA2
0.925 0.200 13 32316478 frameshift variant AGAG/-;AG delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 3 2004 2016
dbSNP: rs397507623
rs397507623
BRCA2
0.925 0.200 13 32316478 frameshift variant AGAG/-;AG delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 2 2004 2012
dbSNP: rs80359343
rs80359343
BRCA2
0.925 0.200 13 32316485 frameshift variant C/- delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 7 1997 2012
dbSNP: rs80359343
rs80359343
BRCA2
0.925 0.200 13 32316485 frameshift variant C/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1997 2016
dbSNP: rs80359343
rs80359343
BRCA2
0.925 0.200 13 32316485 frameshift variant C/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 1988 2012
dbSNP: rs80359393
rs80359393
BRCA2
0.925 0.200 13 32316491 frameshift variant T/-;TT delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0