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: rs1555600876
rs1555600876
BRCA1 ; NBR2
1.000 17 43124027 inframe deletion ACT/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 18 1995 2014
dbSNP: rs45444999
rs45444999
BRCA1
1.000 17 43063882 missense variant C/A;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 13 2001 2019
dbSNP: rs80357074
rs80357074
BRCA1
17 43057075 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1998 2011
dbSNP: rs80357798
rs80357798
BRCA1
1.000 17 43091752 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1995 2016
dbSNP: rs80357442
rs80357442
BRCA1
17 43057077 missense variant C/A;G;T snv 3.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2003 2011
dbSNP: rs397509243
rs397509243
BRCA1
17 43057086 missense variant C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1975 2016
dbSNP: rs80356905
rs80356905
BRCA1
17 43051113 missense variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2000 2010
dbSNP: rs80357065
rs80357065
BRCA1
1.000 17 43049168 missense variant A/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2004 2015
dbSNP: rs80357222
rs80357222
BRCA1
1.000 17 43063883 missense variant T/A;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2004 2015
dbSNP: rs80357571
rs80357571
BRCA1
1.000 17 43091905 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1997 2003
dbSNP: rs80357808
rs80357808
BRCA1
1.000 17 43092089 frameshift variant C/- del 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2008 2018
dbSNP: rs80358073
rs80358073
BRCA1
1.000 17 43049116 splice region variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1997 2014
dbSNP: rs41293461
rs41293461
BRCA1
1.000 17 43063373 stop gained C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1997 2014
dbSNP: rs80357111
rs80357111
BRCA1 ; NBR2
1.000 17 43124095 start lost A/C;G snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 4 2000 2011
dbSNP: rs80357243
rs80357243
BRCA1
17 43063885 missense variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2005 2015
dbSNP: rs80357401
rs80357401
BRCA1
1.000 17 43070933 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2004 2015
dbSNP: rs80358345
rs80358345
BRCA1
1.000 17 43063946 inframe deletion GCA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2003 2014
dbSNP: rs1555592354
rs1555592354
BRCA1
17 43094377 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2015 2016
dbSNP: rs397508877
rs397508877
BRCA1
1.000 17 43094018 stop gained T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2002 2012
dbSNP: rs397509035
rs397509035
BRCA1
1.000 17 43092409 stop gained G/A;C snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 3 2005 2016
dbSNP: rs80356873
rs80356873
BRCA1
1.000 17 43045734 stop gained G/A;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 3 2005 2012
dbSNP: rs80356875
rs80356875
BRCA1
1.000 17 43093373 stop gained C/A;T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1999 2015
dbSNP: rs80357762
rs80357762
BRCA1
1.000 17 43099827 frameshift variant -/A delins 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2002 2018
dbSNP: rs80357822
rs80357822
BRCA1
1.000 17 43092764 frameshift variant CTGT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2006 2017
dbSNP: rs1057517637
rs1057517637
BRCA1
1.000 17 43047669 frameshift variant -/C delins 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 2000 2016