Source: CURATED

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: rs1060501772
rs1060501772
BRIP1
1.000 0.080 17 61776412 frameshift variant -/C delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060501778
rs1060501778
BRIP1
0.925 0.200 17 61847180 frameshift variant A/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060501779
rs1060501779
BRIP1
0.925 0.200 17 61808753 splice acceptor variant G/-;GG delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502347
rs1060502347
BRCA1
1.000 0.080 17 43091902 missense variant T/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502687
rs1060502687
CHEK2
1.000 0.080 22 28711917 frameshift variant TT/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502710
rs1060502710
CHEK2
1.000 0.080 22 28711922 stop gained G/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502734
rs1060502734
PALB2
1.000 0.080 16 23634872 frameshift variant ATAA/- delins 4.0E-06; 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502738
rs1060502738
PALB2
1.000 0.080 16 23635994 frameshift variant G/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502748
rs1060502748
PALB2
1.000 0.080 16 23629779 stop gained G/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502759
rs1060502759
PALB2
1.000 0.080 16 23630447 frameshift variant TTTT/-;TT;TTT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502760
rs1060502760
PALB2
1.000 0.080 16 23636191 frameshift variant G/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502761
rs1060502761
PALB2
1.000 0.080 16 23635111 stop gained G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502764
rs1060502764
PALB2
1.000 0.080 16 23603671 splice acceptor variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502771
rs1060502771
PALB2
1.000 0.080 16 23630098 frameshift variant T/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502772
rs1060502772
PALB2
1.000 0.080 16 23635613 frameshift variant -/G ins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502781
rs1060502781
PALB2
1.000 0.080 16 23623029 frameshift variant C/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502785
rs1060502785
PALB2
1.000 0.080 16 23635180 stop gained C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502787
rs1060502787
PALB2
0.925 0.160 16 23626399 splice acceptor variant T/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502788
rs1060502788
PALB2
1.000 0.080 16 23635498 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502800
rs1060502800
PALB2
1.000 0.080 16 23635592 frameshift variant AC/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502803
rs1060502803
PALB2
1.000 0.080 16 23630412 frameshift variant A/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1060502804
rs1060502804
PALB2
1.000 0.080 16 23624095 splice acceptor variant C/A;G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1064792931
rs1064792931
BARD1
1.000 0.080 2 214752490 frameshift variant AGCAGCAATAGCGATTTCATACTTTCATCATCTGT/CGC delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1064795824
rs1064795824
PALB2
1.000 0.080 16 23623087 frameshift variant G/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1064795953
rs1064795953
PALB2
1.000 0.080 16 23635998 frameshift variant C/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0