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: 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: 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: rs1060502432
rs1060502432
BRCA2
13 32363371 missense variant T/A;C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2002 2002
dbSNP: rs1555284442
rs1555284442
BRCA2
13 32340234 frameshift variant G/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2004 2004
dbSNP: rs398122710
rs398122710
BRCA2
13 32371100 missense variant G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs587782612
rs587782612
BRCA2
13 32396957 missense variant T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2010 2010
dbSNP: rs80359161
rs80359161
BRCA2
13 32379878 missense variant G/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2008 2008
dbSNP: rs876659229
rs876659229
BRCA2
13 32356423 splice acceptor variant AGAT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2010 2010
dbSNP: rs886037797
rs886037797
BRCA2
13 32332667 frameshift variant AACTAACC/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1555280073
rs1555280073
BRCA2
13 32316454 start lost TAAAAATGCCTATTGG/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		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: rs1555280102
rs1555280102
BRCA2
13 32316492 frameshift variant TT/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555280383
rs1555280383
BRCA2
13 32319226 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555280423
rs1555280423
BRCA2
13 32319278 frameshift variant -/GTAC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555280854
rs1555280854
BRCA2
13 32325126 frameshift variant AAAA/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555280855
rs1555280855
BRCA2
13 32325128 frameshift variant AAT/TA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555281890
rs1555281890
BRCA2
13 32332870 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555281937
rs1555281937
BRCA2
13 32333013 frameshift variant -/TA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555282120
rs1555282120
BRCA2
13 32333321 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555282390
rs1555282390
BRCA2
13 32336345 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555282454
rs1555282454
BRCA2
13 32336460 frameshift variant TT/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555282563
rs1555282563
BRCA2
13 32336599 stop gained C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555282584
rs1555282584
BRCA2
13 32336614 frameshift variant AATC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555282680
rs1555282680
BRCA2
13 32336807 frameshift variant TCAA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555283072
rs1555283072
BRCA2
13 32337520 frameshift variant TCA/CC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0