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: rs28897759
rs28897759
BRCA2
0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.810 1.000 0 2014 2014
dbSNP: rs28897743
rs28897743
BRCA2
0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 1.000 0 2002 2013
dbSNP: rs41293511
rs41293511
BRCA2
0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 1.000 0 2004 2014
dbSNP: rs45580035
rs45580035
BRCA2
0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 1.000 0 1997 2014
dbSNP: rs80358979
rs80358979
BRCA2
1.000 0.120 13 32356521 missense variant T/C snv
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 1.000 0 2003 2003
dbSNP: rs80359014
rs80359014
BRCA2
0.763 0.320 13 32362596 missense variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 0
dbSNP: rs28897743
rs28897743
BRCA2
0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 0 2020 2020
dbSNP: rs80358807
rs80358807
BRCA2
0.763 0.280 13 32340146 stop gained C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 0 2017 2017
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.710 1.000 0 2013 2013
dbSNP: rs1057517566
rs1057517566
BRCA2
0.925 0.200 13 32337431 frameshift variant AA/- del
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1057517566
rs1057517566
BRCA2
0.925 0.200 13 32337431 frameshift variant AA/- del
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs1057517572
rs1057517572
BRCA2
0.925 0.200 13 32319315 frameshift variant -/T delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1057517572
rs1057517572
BRCA2
0.925 0.200 13 32319315 frameshift variant -/T delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs1057517595
rs1057517595
BRCA2
1.000 13 32339841 frameshift variant GT/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1057517636
rs1057517636
BRCA2
1.000 13 32338829 stop gained A/T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1057517865
rs1057517865
BRCA2
1.000 13 32371025 stop gained A/T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1057518635
rs1057518635
BRCA2
1.000 13 32340367 frameshift variant ATAG/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1057518635
rs1057518635
BRCA2
1.000 13 32340367 frameshift variant ATAG/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs1057518637
rs1057518637
BRCA2
1.000 13 32336621 stop gained C/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs1057518637
rs1057518637
BRCA2
1.000 13 32336621 stop gained C/G;T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1057518638
rs1057518638
BRCA2
1.000 13 32339317 stop gained T/A snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1057518638
rs1057518638
BRCA2
1.000 13 32339317 stop gained T/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs1057519559
rs1057519559
BRCA2
0.925 0.200 13 32339514 frameshift variant AACA/- delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs1057519559
rs1057519559
BRCA2
0.925 0.200 13 32339514 frameshift variant AACA/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1057520636
rs1057520636
BRCA2
1.000 13 32338581 stop gained T/A snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0